PTCH1 — 4610 ClinVar variants

All ClinVar germline PTCH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2096 flagged for review →

382 Pathogenic · 24 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 468 Conflicting · 92 Benign · 109 Benign/Likely benign · 1324 Likely benign · 2086 Uncertain significance

Full PTCH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2096

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

PTCH1 p.Arg195Lys Pathogenic Single submitter
nevoid basal cell carcinoma syndrome

Predictors agree, ClinVar conflicts 280

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 280

PTCH1 p.Ala1044Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1061Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala111Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1130Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1208Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1208Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1208Val Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1247Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1251Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala1344Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1353Val Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala151Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala167Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala167Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala174Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala300Val Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Ala306Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala398Thr Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala412Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala412Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala507Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala521Thr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala569Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ala953Thr Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Arg1025His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1113His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1192Cys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1192His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1206His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1239Pro Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1297Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1303His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1303Leu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1304Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1308Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1317Gly Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1338Cys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1338His Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1342Cys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1345Cys Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1345Gly Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1345His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1350Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg135Gln Conflicting Single submitter
basal cell nevus syndrome 1
PTCH1 p.Arg138His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1394Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1442Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg1442Trp Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Arg144Cys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg144His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg187His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg255Leu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg255Trp Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg294His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg441His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg85Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg945Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg945Gly Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Arg982Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1188Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1348Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1348Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1348Ser Conflicting Single submitter
holoprosencephaly 7
PTCH1 p.Asn1351Asp Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Asn1351Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1351Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1447Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn1447Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn154Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn272Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn298Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn871Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn872Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn940Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asn979Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp1110Asn Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1305Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp1305Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp217Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp260Ala Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp260Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp293Gly Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Asp436Glu Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp857Gly Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp878Glu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp879Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Asp894Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Cys1398Tyr Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Cys92Phe Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln11Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gln1245Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gln1253Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gln1253Pro Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln1300Leu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gln184Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln184His Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gln242Glu Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln938Glu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu1236Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu1273Ala Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu1273Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu127Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu1438Lys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Glu380Lys Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu63Gln Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu992Gly Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1012Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1109Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly110Ala Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1129Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1189Cys Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1189Ser Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1217Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1246Asp Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1248Ala Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1248Glu Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Gly1249Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1310Asp Conflicting Single submitter
pituitary stalk interruption syndrome
PTCH1 p.Gly1310Val Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1340Asp Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1343Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly134Glu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1363Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1388Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1395Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1400Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly1443Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly344Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Gly68Glu Conflicting Single submitter
basal cell nevus syndrome 1
PTCH1 p.Gly891Ser Conflicting Single submitter
basal cell nevus syndrome 1
PTCH1 p.Gly980Ser Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1215Asn Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1252Asp Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1252Tyr Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1266Gln Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1276Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.His1347Tyr Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.His1417Asn Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.His189Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.His289Arg Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.His408Arg Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1022Leu Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile1074Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile108Met Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1092Met Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1108Val Conflicting Single submitter
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile1148Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1158Leu Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1161Val Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 p.Ile1430Val Conflicting Single submitter
nevoid basal cell carcinoma syndrome

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

PTCH1 c.2704-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
PTCH1 c.395-1G>A Conflicting Single submitter
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Glu2fs Conflicting Single submitter
basal cell nevus syndrome 1
PTCH1 p.Tyr1316fs Conflicting Single submitter
nevoid basal cell carcinoma syndrome

Predictors lean, ClinVar uncertain 1170

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1170

PTCH1 p.Ala1157Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala118Pro Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala118Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1208Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1243Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1247Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1247Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1322Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1322Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1322Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1337Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1344Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1344Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala167Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala182Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala300Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala357Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala359Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala549Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala563Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala569Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala58Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala58Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala59Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala75Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala75Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala81Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala858Ser Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Ala858Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala933Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala935Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1025Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1113Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1192Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1192Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1304Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1304Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1304Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1317Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1320Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1338Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1419Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1422Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1423Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1440Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1440Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1440Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1442Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg144Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg441Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg73Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg85Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg942Pro Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg960Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn1000Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1011Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1049Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1166Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn1188Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn1191His Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1281Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1281Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1335Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1335His Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Asn1335Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn1392Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn141Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn194Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn258Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn272His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn283Tyr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn298Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn386Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn388Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn528His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn528Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn872Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn940Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn979His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp1110Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp1321Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp1405Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp180Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp180His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp293Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp301Tyr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp513Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp857Ala Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp857Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp894Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp909His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp911Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp951Asn Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Cys1398Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Cys1420Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys1437Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys1437Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys226Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys234Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln1228Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln1245Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln1284Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln1301Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln145Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln218Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln218Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln274Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln400His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln417Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln64Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln84Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln889Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln905Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1095Gln Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1199Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu122Ala Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1242Ala Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1257Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1328Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1403Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1421Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1439Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu208Ala Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu263Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu280Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu389Lys Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Glu63Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu63Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1023Ala Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1054Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1069Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1093Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly115Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1249Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1291Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1296Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1296Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1299Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1299Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1363Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1388Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1390Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1390Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly1395Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1396Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1396Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly166Ser Uncertain significance Multiple submitters
PTCH1-related disorder
PTCH1 p.Gly214Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly214Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly378Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 641

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 641

PTCH1 p.Ala1088Thr Benign/Likely benign Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1103Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1154Pro Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1154Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1373Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1375Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala1380Pro Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala1380Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala239Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala308Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala320Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala443Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala443Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala472Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala472Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala482Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala498Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala521Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala558Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala563Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala572Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala572Thr Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Ala58Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala61Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ala61Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala70Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala70Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala918Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala936Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ala966Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1150Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1150Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1206Cys Likely benign Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg1423Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg1423Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg187Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg459Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg906Cys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Arg942Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Arg982Trp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asn1166Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn168Asp Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Asn298His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn310Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asn349Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp1110His Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1219Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1411Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1411Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1411Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp1434Gly Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp1434Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp217Tyr Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Asp303His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp428Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp429Tyr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp513Asn Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Asp930Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Asp951Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys462Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Cys56Tyr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gln177His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln242Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln338Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gln95Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1120Lys Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Glu1144Asp Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1224Gln Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu122Gln Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1237Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1324Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1428Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu1428Lys Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Glu1436Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu524Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Glu989Lys Likely benign Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1005Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly1075Arg Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Gly288Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly288Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly290Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly325Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly345Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly445Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly509Val Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly526Glu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Gly854Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly866Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Gly99Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.His1121Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.His1121Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.His1382Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.His1382Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.His1413Arg Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.His1413Tyr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.His375Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.His944Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile1074Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile1085Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile108Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile108Thr Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Ile1092Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile1092Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile1158Phe Benign/Likely benign Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile147Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Ile220Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile342Thr Uncertain significance Multiple submitters
basal cell carcinoma, susceptibility to, 1
PTCH1 p.Ile914Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Ile963Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1024Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1047Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1078Phe Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Leu1102Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1119Val Uncertain significance Multiple submitters
basal cell nevus syndrome 1
PTCH1 p.Leu1156Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1162Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu1432Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu227Phe Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Leu323Met Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Leu330Val Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Leu448Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Leu570Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Lys1077Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Lys163Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Lys205Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Lys333Asn Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Lys432Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met1063Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met1071Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Met1122Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met1122Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met1122Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met158Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met281Thr Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Met335Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met363Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met372Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Met372Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe1031Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe1046Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe1068Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe109Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe109Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe1264Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Phe1323Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe1409Ser Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Phe495Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe533Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
PTCH1 p.Phe560Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome
PTCH1 p.Phe88Leu Uncertain significance Multiple submitters
nevoid basal cell carcinoma syndrome

All PTCH1 variants

Pathogenic 382

Showing the top 300 by review status; the full set is in the sitemap.

c.1348-1G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1348-2A>G Multiple submitters PTCH1-related disorder
c.1503+1G>C Multiple submitters nevoid basal cell carcinoma syndrome
c.1602+1G>T Multiple submitters basal cell carcinoma, susceptibility to, 1
c.202-2A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.2561-1G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.2561-2A>G Multiple submitters basal cell nevus syndrome 1
c.394+1G>A Multiple submitters hereditary neoplastic syndrome
c.394+1G>C Multiple submitters nevoid basal cell carcinoma syndrome
c.585-1G>C Multiple submitters nevoid basal cell carcinoma syndrome
c.654+1G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.945+1G>A Multiple submitters hereditary neoplastic syndrome
p.Ala151fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg135Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg85fs Multiple submitters hereditary neoplastic syndrome
p.Asn1011fs Multiple submitters hereditary neoplastic syndrome
p.Asp857fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Cys92_Tyr93insTer Multiple submitters hereditary neoplastic syndrome
p.Cys98Ter Multiple submitters hereditary neoplastic syndrome
p.Gln242fs Multiple submitters PTCH1-related disorder
p.Gln400Ter Multiple submitters hereditary neoplastic syndrome
p.Gln413Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln501Ter Multiple submitters PTCH1-related disorder
p.Gln527Ter Multiple submitters Inborn genetic diseases
p.Gln901Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln905Ter Multiple submitters basal cell nevus syndrome 1
p.Gln95Ter Multiple submitters hereditary neoplastic syndrome
p.Glu127Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu150Ter Multiple submitters hereditary neoplastic syndrome
p.Glu221Ter Multiple submitters hereditary neoplastic syndrome
p.Glu539fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu63Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1093Arg Multiple submitters PTCH1-related disorder
p.Gly290_Tyr291insTer Multiple submitters hereditary neoplastic syndrome
p.Gly445fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1036Ter Multiple submitters Inborn genetic diseases
p.Leu87fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Lys198fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Lys269_Lys270insTer Multiple submitters hereditary neoplastic syndrome
p.Met1122fs Multiple submitters hereditary neoplastic syndrome
p.Phe1015fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Phe1046_Leu1047insTer Multiple submitters hereditary neoplastic syndrome
p.Phe88fs Multiple submitters hereditary neoplastic syndrome
p.Ser313Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Ser383Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Ser435fs Multiple submitters hereditary neoplastic syndrome
p.Thr314fs Multiple submitters hereditary neoplastic syndrome
p.Thr551fs Multiple submitters basal cell nevus syndrome 1
p.Trp129Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Trp278Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Trp399Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Trp460Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Trp78Ter Multiple submitters Inborn genetic diseases
p.Trp948fs Multiple submitters hereditary neoplastic syndrome
p.Tyr1009Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Tyr193Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Tyr224Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr247Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Tyr373Ter Multiple submitters PTCH1-related disorder
p.Tyr403Ter Multiple submitters hereditary neoplastic syndrome
p.Val1173fs Multiple submitters hereditary neoplastic syndrome
p.Val275fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Val411fs Multiple submitters hereditary neoplastic syndrome
c.1067+1G>T Single submitter nevoid basal cell carcinoma syndrome
c.1067+2T>A Single submitter nevoid basal cell carcinoma syndrome
c.1068-2A>C Single submitter nevoid basal cell carcinoma syndrome
c.1068-2A>G Single submitter nevoid basal cell carcinoma syndrome
c.1068-2A>T Single submitter nevoid basal cell carcinoma syndrome
c.1347+2T>A Single submitter nevoid basal cell carcinoma syndrome
c.1347+354_1347+357del Single submitter nevoid basal cell carcinoma syndrome
c.1348-14_1370del Single submitter nevoid basal cell carcinoma syndrome
c.1348-1G>C Single submitter nevoid basal cell carcinoma syndrome
c.1503+1G>T Single submitter nevoid basal cell carcinoma syndrome
c.1503+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.1504-2A>C Single submitter hereditary neoplastic syndrome
c.1504-2A>T Single submitter hereditary neoplastic syndrome
c.1602+1G>A Single submitter nevoid basal cell carcinoma syndrome
c.1602+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.1602+3A>T Single submitter nevoid basal cell carcinoma syndrome
c.1603-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.1603-2A>C Single submitter hereditary neoplastic syndrome
c.1728+1G>T Single submitter basal cell carcinoma, susceptibility to, 1
c.1728+2T>A Single submitter nevoid basal cell carcinoma syndrome
c.202-1G>C Single submitter nevoid basal cell carcinoma syndrome
c.2560+1G>T Single submitter hereditary neoplastic syndrome
c.2561-2A>T Single submitter nevoid basal cell carcinoma syndrome
c.2703+2T>A Single submitter
c.3168+1G>T Single submitter nevoid basal cell carcinoma syndrome
c.3168+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.3168+5G>A Single submitter nevoid basal cell carcinoma syndrome
c.3298_3306+3del Single submitter hereditary neoplastic syndrome
c.3306+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.3449+1G>A Single submitter nevoid basal cell carcinoma syndrome
c.3450-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.3450-1G>C Single submitter nevoid basal cell carcinoma syndrome
c.3450-2_3483del Single submitter nevoid basal cell carcinoma syndrome
c.3450-2A>C Single submitter nevoid basal cell carcinoma syndrome
c.3450-2A>G Single submitter nevoid basal cell carcinoma syndrome
c.3450delG Single submitter hereditary neoplastic syndrome
c.3549+2T>G Single submitter nevoid basal cell carcinoma syndrome
c.3549+5G>A Single submitter nevoid basal cell carcinoma syndrome
c.3550del Single submitter nevoid basal cell carcinoma syndrome
c.554_584+1dup Single submitter nevoid basal cell carcinoma syndrome
c.585-15_586del Single submitter hereditary neoplastic syndrome
c.585-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.740_746+1delinsT Single submitter nevoid basal cell carcinoma syndrome
c.746+1G>A Single submitter nevoid basal cell carcinoma syndrome
c.746+1G>C Single submitter hereditary neoplastic syndrome
c.746+1G>T Single submitter nevoid basal cell carcinoma syndrome
c.746+2dup Single submitter nevoid basal cell carcinoma syndrome
c.746+2T>G Single submitter nevoid basal cell carcinoma syndrome
c.747-2A>G Single submitter nevoid basal cell carcinoma syndrome
c.945+1dup Single submitter nevoid basal cell carcinoma syndrome
c.945+2T>C Single submitter hereditary neoplastic syndrome
c.945+2T>G Single submitter nevoid basal cell carcinoma syndrome
p.Ala1044fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala1088_Ser1089insTer Single submitter hereditary neoplastic syndrome
p.Ala1103_Phe1104insTer Single submitter hereditary neoplastic syndrome
p.Ala111fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala1141fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala1154fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala118fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala119fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala239fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala300fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala306fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala308fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala412fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala451fs Single submitter hereditary neoplastic syndrome
p.Ala453fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala563_Leu564insTer Single submitter nevoid basal cell carcinoma syndrome
p.Ala586fs Single submitter hereditary neoplastic syndrome
p.Ala858fs Single submitter nevoid basal cell carcinoma syndrome
p.Ala925fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg1114fs Single submitter hereditary neoplastic syndrome
p.Arg135_Val136insTer Single submitter nevoid basal cell carcinoma syndrome
p.Arg135fs Single submitter hereditary neoplastic syndrome
p.Arg144fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg195Lys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg255_Trp256insTer Single submitter nevoid basal cell carcinoma syndrome
p.Arg294fs Single submitter hereditary neoplastic syndrome
p.Arg441fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg543fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg942fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn1112fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn1166fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn124fs Single submitter hereditary neoplastic syndrome
p.Asn168fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn258fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn324fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn349fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn386fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn496Ter Single submitter nevoid basal cell carcinoma syndrome
p.Asn528fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn915delinsHisHisTer Single submitter nevoid basal cell carcinoma syndrome
p.Asn915fs Single submitter nevoid basal cell carcinoma syndrome
p.Asn979fs Single submitter nevoid basal cell carcinoma syndrome
p.Asp293fs Single submitter hereditary neoplastic syndrome
p.Asp301fs Single submitter nevoid basal cell carcinoma syndrome
p.Asp436fs Single submitter nevoid basal cell carcinoma syndrome
p.Asp514del Single submitter nevoid basal cell carcinoma syndrome
p.Asp862fs Single submitter hereditary neoplastic syndrome
p.Asp894fs Single submitter hereditary neoplastic syndrome
p.Asp954_Pro957delinsTer Single submitter
p.Cys1043fs Single submitter nevoid basal cell carcinoma syndrome
p.Cys203fs Single submitter hereditary neoplastic syndrome
p.Cys234Ter Single submitter nevoid basal cell carcinoma syndrome
p.Cys304Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln1020Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln156Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln160Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln177Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln184Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln196Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln338Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln361Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln365fs Single submitter nevoid basal cell carcinoma syndrome
p.Gln365Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln409fs Single submitter nevoid basal cell carcinoma syndrome
p.Gln409Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln466fs Single submitter hereditary neoplastic syndrome
p.Gln576Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln714Ter Single submitter hereditary neoplastic syndrome
p.Gln84fs Single submitter nevoid basal cell carcinoma syndrome
p.Gln84Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gln856Ter Single submitter hereditary neoplastic syndrome
p.Gln905fs Single submitter
p.Gln938Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu1019Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu1066Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu1095fs Single submitter nevoid basal cell carcinoma syndrome
p.Glu1095Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu1183fs Single submitter hereditary neoplastic syndrome
p.Glu126Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu149Ter Single submitter hereditary neoplastic syndrome
p.Glu164Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu165fs Single submitter
p.Glu221fs Single submitter nevoid basal cell carcinoma syndrome
p.Glu374Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu380Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu397fs Single submitter nevoid basal cell carcinoma syndrome
p.Glu864Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu958fs Single submitter hereditary neoplastic syndrome
p.Glu967Ter Single submitter
p.Glu989Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu992Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gly1054delinsAlaLeuSerSerCysTer Single submitter nevoid basal cell carcinoma syndrome
p.Gly1075Ter Single submitter nevoid basal cell carcinoma syndrome
p.Gly1091_Ile1092insTer Single submitter nevoid basal cell carcinoma syndrome
p.Gly1142_Ser1143insTer Single submitter nevoid basal cell carcinoma syndrome
p.Gly1163fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly134_Arg135insTer Single submitter nevoid basal cell carcinoma syndrome
p.Gly166fs Single submitter hereditary neoplastic syndrome
p.Gly214fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly290fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly344fs Single submitter
p.Gly352fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly378_Tyr379insTer Single submitter hereditary neoplastic syndrome
p.Gly473fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly484Arg Single submitter nevoid basal cell carcinoma syndrome
p.Gly509Arg Single submitter nevoid basal cell carcinoma syndrome
p.Gly876Ter Single submitter
p.Gly880fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly99fs Single submitter nevoid basal cell carcinoma syndrome
p.His1121fs Single submitter nevoid basal cell carcinoma syndrome
p.His189fs Single submitter basal cell carcinoma, susceptibility to, 1
p.His201fs Single submitter nevoid basal cell carcinoma syndrome
p.His328fs Single submitter nevoid basal cell carcinoma syndrome
p.His336fs Single submitter nevoid basal cell carcinoma syndrome
p.His384fs Single submitter nevoid basal cell carcinoma syndrome
p.His520fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile1032fs Single submitter
p.Ile1108fs Single submitter basal cell nevus syndrome 1
p.Ile210fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile220fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile228fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile342fs Single submitter PTCH1-related disorder
p.Ile531fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile553fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile565fs Single submitter hereditary neoplastic syndrome
p.Ile941fs Single submitter hereditary neoplastic syndrome
p.Ile969fs Single submitter nevoid basal cell carcinoma syndrome
p.Ile997fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu1030fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu1047fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu1062fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu1156fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu1165fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu116Ter Single submitter nevoid basal cell carcinoma syndrome
p.Leu1175fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu183fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu202fs Single submitter
p.Leu227Ter Single submitter nevoid basal cell carcinoma syndrome
p.Leu241Ter Single submitter nevoid basal cell carcinoma syndrome
p.Leu248fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu249fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu254fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu341Ter Single submitter hereditary neoplastic syndrome
p.Leu354fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu366Ter Single submitter nevoid basal cell carcinoma syndrome
p.Leu447fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu448fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu479fs Single submitter
p.Leu487fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu564Ter Single submitter nevoid basal cell carcinoma syndrome
p.Leu570fs Single submitter nevoid basal cell carcinoma syndrome
p.Leu978fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys117Ter Single submitter nevoid basal cell carcinoma syndrome
p.Lys205fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys205Ter Single submitter hereditary neoplastic syndrome
p.Lys251fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys270_Ile271insTer Single submitter nevoid basal cell carcinoma syndrome
p.Lys270fs Single submitter hereditary neoplastic syndrome
p.Lys270Ter Single submitter nevoid basal cell carcinoma syndrome
p.Lys315fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys418fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys529Ter Single submitter
p.Lys542Ter Single submitter nevoid basal cell carcinoma syndrome
p.Lys82fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys904Ter Single submitter hereditary neoplastic syndrome
p.Met152fs Single submitter hereditary neoplastic syndrome
p.Met319fs Single submitter hereditary neoplastic syndrome
p.Met363fs Single submitter
p.Met372_Tyr373insTer Single submitter hereditary neoplastic syndrome
p.Met449del Single submitter nevoid basal cell carcinoma syndrome
p.Met561fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe1031fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe1068fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe109fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe1147fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe1153fs Single submitter hereditary neoplastic syndrome
p.Phe1177fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe259fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe376fs Single submitter nevoid basal cell carcinoma syndrome
p.Phe434_Ser435insTer Single submitter
p.Phe495fs Single submitter nevoid basal cell carcinoma syndrome
p.Pro896fs Single submitter nevoid basal cell carcinoma syndrome
p.Pro957fs Single submitter nevoid basal cell carcinoma syndrome
p.Pro975fs Single submitter nevoid basal cell carcinoma syndrome
p.Ser1008_Tyr1009insTer Single submitter nevoid basal cell carcinoma syndrome

Pathogenic/Likely pathogenic 24

c.1068-1G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1216-1G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1504-1G>C Multiple submitters nevoid basal cell carcinoma syndrome
c.1603-2A>G Multiple submitters basal cell nevus syndrome 1
c.202-2A>C Multiple submitters PTCH1-related disorder
c.584+1G>A Multiple submitters hereditary neoplastic syndrome
c.747-1G>A Multiple submitters hereditary neoplastic syndrome
p.Ala453_Cys454insTer Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg945Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln145Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln242Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln501Arg Multiple submitters hereditary neoplastic syndrome
p.Gln973Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu405Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly115Ter Multiple submitters
p.Gly509Asp Multiple submitters hereditary neoplastic syndrome
p.Gly509Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile868fs Multiple submitters hereditary neoplastic syndrome
p.Leu1156Arg Multiple submitters nevoid basal cell carcinoma syndrome
p.Lys370fs Multiple submitters basal cell nevus syndrome 1
p.Pro253fs Multiple submitters basal cell nevus syndrome 1
p.Ser1132Phe Multiple submitters hereditary neoplastic syndrome
p.Ser1132Pro Multiple submitters hereditary neoplastic syndrome
p.Tyr403fs Multiple submitters basal cell carcinoma, susceptibility to, 1

Likely pathogenic 125

c.1068-1G>T Multiple submitters basal cell nevus syndrome 1
c.1347+1G>C Multiple submitters hereditary neoplastic syndrome
c.3169-1G>A Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln501His Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1163Val Multiple submitters hereditary neoplastic syndrome
p.Leu107fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Ser554Arg Multiple submitters nevoid basal cell carcinoma syndrome
p.Trp129Arg Multiple submitters hereditary neoplastic syndrome
p.Trp844Gly Multiple submitters hereditary neoplastic syndrome
c.1347+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.1348-1G>T Single submitter hereditary neoplastic syndrome
c.1503+2T>A Single submitter hereditary neoplastic syndrome
c.1779_2195del Single submitter nevoid basal cell carcinoma syndrome
c.1847+3A>T Single submitter hereditary neoplastic syndrome
c.201+1G>A Single submitter hereditary neoplastic syndrome
c.201+1G>T Single submitter nevoid basal cell carcinoma syndrome
c.2251-1G>C Single submitter hereditary neoplastic syndrome
c.2702_2703+4del Single submitter nevoid basal cell carcinoma syndrome
c.2703+1G>A Single submitter nevoid basal cell carcinoma syndrome
c.2703+2T>C Single submitter nevoid basal cell carcinoma syndrome
c.2704-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.2704-1G>T Single submitter basal cell carcinoma, susceptibility to, 1
c.2887+1G>A Single submitter nevoid basal cell carcinoma syndrome
c.2887+2T>C Single submitter Inborn genetic diseases
c.3168+1G>C Single submitter hereditary neoplastic syndrome
c.3168+3G>C Single submitter hereditary neoplastic syndrome
c.3169-1G>C Single submitter basal cell nevus syndrome 1
c.3169-2A>G Single submitter basal cell nevus syndrome 1
c.3306+2T>G Single submitter PTCH1-related disorder
c.3307-115_3339del Single submitter nevoid basal cell carcinoma syndrome
c.3307-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.3307-8T>G Single submitter basal cell nevus syndrome 1
c.3450-11T>A Single submitter hereditary neoplastic syndrome
c.3450-3_3450del Single submitter nevoid basal cell carcinoma syndrome
c.3549+1G>A Single submitter Inborn genetic diseases
c.3550-2A>C Single submitter nevoid basal cell carcinoma syndrome
c.3550-2A>T Single submitter basal cell nevus syndrome 1
c.361_362insALU Single submitter hereditary neoplastic syndrome
c.394+4del Single submitter hereditary neoplastic syndrome
c.586_591delCAGTGG Single submitter hereditary neoplastic syndrome
c.654+1_654+3del Single submitter PTCH1-related disorder
c.654+1G>T Single submitter PTCH1-related disorder
c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC Single submitter nevoid basal cell carcinoma syndrome
c.655-1G>T Single submitter nevoid basal cell carcinoma syndrome
c.655-2A>G Single submitter nevoid basal cell carcinoma syndrome
c.741_746+1del Single submitter nevoid basal cell carcinoma syndrome
c.747-54_1261del Single submitter nevoid basal cell carcinoma syndrome
c.945+1G>T Single submitter hereditary neoplastic syndrome
c.945+2_945+8delinsCGCT Single submitter nevoid basal cell carcinoma syndrome
c.945+5G>C Single submitter nevoid basal cell carcinoma syndrome
c.945+5G>T Single submitter
c.946-1G>A Single submitter nevoid basal cell carcinoma syndrome
c.946-2A>G Single submitter basal cell nevus syndrome 1
p.Ala1107fs Single submitter
p.Ala1130fs Single submitter PTCH1-related disorder
p.Ala185Asp Single submitter
p.Ala246fs Single submitter basal cell nevus syndrome 1
p.Ala569fs Single submitter PTCH1-related disorder
p.Arg1308fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg1336fs Single submitter basal cell nevus syndrome 1
p.Arg187fs Single submitter nevoid basal cell carcinoma syndrome
p.Arg945fs Single submitter holoprosencephaly 7
p.Asn97fs Single submitter nevoid basal cell carcinoma syndrome
p.Asp1128fs Single submitter nevoid basal cell carcinoma syndrome
p.Asp57fs Single submitter PTCH1-related disorder
p.Asp930fs Single submitter hereditary neoplastic syndrome
p.Cys296fs Single submitter nevoid basal cell carcinoma syndrome
p.Cys304Arg Single submitter nevoid basal cell carcinoma syndrome
p.Cys488Arg Single submitter hereditary neoplastic syndrome
p.Cys98fs Single submitter nevoid basal cell carcinoma syndrome
p.Gln1020_Leu1029del Single submitter nevoid basal cell carcinoma syndrome
p.Gln365_Leu366insTer Single submitter nevoid basal cell carcinoma syndrome
p.Glu1019_Trp1027delinsGly Single submitter
p.Glu1120fs Single submitter basal cell nevus syndrome 1
p.Glu1183Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu173Ter Single submitter basal cell nevus syndrome 1
p.Glu237Lys Single submitter nevoid basal cell carcinoma syndrome
p.Glu279fs Single submitter basal cell nevus syndrome 1
p.Glu280Ter Single submitter nevoid basal cell carcinoma syndrome
p.Glu340fs Single submitter basal cell nevus syndrome 1
p.Glu52fs Single submitter basal cell nevus syndrome 1
p.Gly1069Arg Single submitter hereditary neoplastic syndrome
p.Gly1069Asp Single submitter hereditary neoplastic syndrome
p.Gly1091fs Single submitter holoprosencephaly 7
p.Gly1136Arg Single submitter
p.Gly1163Arg Single submitter nevoid basal cell carcinoma syndrome
p.Gly1167Arg Single submitter hereditary neoplastic syndrome
p.Gly24fs Single submitter nevoid basal cell carcinoma syndrome
p.Gly473_Val477del Single submitter nevoid basal cell carcinoma syndrome
p.Gly511Arg Single submitter nevoid basal cell carcinoma syndrome
p.Gly91Arg Single submitter hereditary neoplastic syndrome
p.Gly91fs Single submitter PTCH1-related disorder
p.His189_Val190del Single submitter
p.Ile1092Lys Single submitter
p.Leu1004fs Single submitter PTCH1-related disorder
p.Leu1102Ter Single submitter basal cell nevus syndrome 1
p.Leu487Arg Single submitter nevoid basal cell carcinoma syndrome
p.Leu822Pro Single submitter hereditary neoplastic syndrome
p.Lys163fs Single submitter PTCH1-related disorder
p.Lys60fs Single submitter nevoid basal cell carcinoma syndrome
p.Lys89fs Single submitter basal cell nevus syndrome 1
p.Phe1147Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro1198fs Single submitter PTCH1-related disorder
p.Pro504Gln Single submitter nevoid basal cell carcinoma syndrome
p.Pro566fs Single submitter PTCH1-related disorder
p.Ser206Ter Single submitter nevoid basal cell carcinoma syndrome
p.Ser552fs Single submitter PTCH1-related disorder
p.Ser877fs Single submitter basal cell nevus syndrome 1
p.Ser985fs Single submitter PTCH1-related disorder
p.Thr1133_Leu1134delinsMet Single submitter hereditary neoplastic syndrome
p.Thr346fs Single submitter basal cell nevus syndrome 1
p.Thr499Arg Single submitter basal cell nevus syndrome 1
p.Trp197Cys Single submitter
p.Trp926Gly Single submitter nevoid basal cell carcinoma syndrome
p.Trp926Ser Single submitter nevoid basal cell carcinoma syndrome
p.Tyr1021Cys Single submitter hereditary skin disorder
p.Tyr1021Ter Single submitter PTCH1-related disorder
p.Tyr31fs Single submitter nevoid basal cell carcinoma syndrome
p.Val548fs Single submitter PTCH1-related disorder
c.1347+1G>A No assertion criteria nevoid basal cell carcinoma syndrome
c.584+1dup No assertion criteria PTCH1-related disorder
p.Asp217fs No assertion criteria PTCH1-related disorder
p.Phe560fs No assertion criteria PTCH1-related disorder
p.Ser410fs No assertion criteria nevoid basal cell carcinoma syndrome
p.Tyr31Ter No assertion criteria rhabdomyosarcoma

Conflicting classifications of pathogenicity 468

Showing the top 300 by review status; the full set is in the sitemap.

c.1067+5G>C Single submitter basal cell carcinoma, susceptibility to, 1
c.1215+10C>T Single submitter nevoid basal cell carcinoma syndrome
c.1215+14C>T Single submitter holoprosencephaly 7
c.1215+5A>T Single submitter hereditary neoplastic syndrome
c.1216-6C>A Single submitter hereditary neoplastic syndrome
c.1347+6G>A Single submitter hereditary neoplastic syndrome
c.1347+6G>T Single submitter nevoid basal cell carcinoma syndrome
c.1503+4C>A Single submitter hereditary neoplastic syndrome
c.1503+6A>G Single submitter nevoid basal cell carcinoma syndrome
c.1504-3T>C Single submitter nevoid basal cell carcinoma syndrome
c.1504-4del Single submitter hereditary neoplastic syndrome
c.1504-5T>C Single submitter hereditary neoplastic syndrome
c.1602+5T>C Single submitter hereditary neoplastic syndrome
c.1602+9A>G Single submitter nevoid basal cell carcinoma syndrome
c.1728+4A>G Single submitter hereditary neoplastic syndrome
c.2703+12G>A Single submitter holoprosencephaly 7
c.2704-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.2704-3T>C Single submitter hereditary neoplastic syndrome
c.2704-5del Single submitter nevoid basal cell carcinoma syndrome
c.2887+10G>A Single submitter nevoid basal cell carcinoma syndrome
c.2887+5G>A Single submitter hereditary neoplastic syndrome
c.3307-3C>G Single submitter PTCH1-related disorder
c.3307-3C>T Single submitter hereditary neoplastic syndrome
c.3307-4A>G Single submitter hereditary neoplastic syndrome
c.3449+10C>T Single submitter basal cell carcinoma, susceptibility to, 1
c.3449+11G>A Single submitter basal cell nevus syndrome 1
c.3450-5C>T Single submitter hereditary neoplastic syndrome
c.394+6_394+17del Single submitter nevoid basal cell carcinoma syndrome
c.395-1G>A Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
c.395-5G>C Single submitter hereditary neoplastic syndrome
c.395-8T>A Single submitter nevoid basal cell carcinoma syndrome
c.585-11_585-7del Single submitter nevoid basal cell carcinoma syndrome
c.585-17_585-13del Single submitter nevoid basal cell carcinoma syndrome
c.654+3A>G Single submitter nevoid basal cell carcinoma syndrome
c.654+4T>C Single submitter nevoid basal cell carcinoma syndrome
c.655-5G>T Single submitter hereditary neoplastic syndrome
c.746+3_746+6del Single submitter basal cell nevus syndrome 1
c.945+3_945+6del Single submitter hereditary neoplastic syndrome
c.945+5G>A Single submitter hereditary neoplastic syndrome
c.946-5T>A Single submitter nevoid basal cell carcinoma syndrome
c.946-5T>C Single submitter nevoid basal cell carcinoma syndrome
c.*1132G>A Single submitter holoprosencephaly 7
c.*2276A>T Single submitter nevoid basal cell carcinoma syndrome
c.*450A>C Single submitter holoprosencephaly 7
p.509GV[1] Single submitter nevoid basal cell carcinoma syndrome
p.Ala1044Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1061Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1080Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1088= Single submitter nevoid basal cell carcinoma syndrome
p.Ala111Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1124= Single submitter hereditary neoplastic syndrome
p.Ala1124Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala1130Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1141= Single submitter hereditary neoplastic syndrome
p.Ala1141Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1208= Single submitter holoprosencephaly 7
p.Ala1208Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1208Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1208Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala1247Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1251Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala1344Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala1353Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala1380Thr Single submitter Hereditary cancer ⚠
p.Ala151Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala167Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala167Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala174Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala182Val Single submitter hereditary neoplastic syndrome
p.Ala300Val Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Ala306Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala398Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ala398Val Single submitter hereditary neoplastic syndrome
p.Ala412Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala412Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala451Thr Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Ala497= Single submitter hereditary neoplastic syndrome
p.Ala497Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala507Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala521Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala569Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala61Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala936= Single submitter hereditary neoplastic syndrome
p.Ala953Thr Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Arg1025His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1113Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1113His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1192Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1192His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1206His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1239Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg1297Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1303His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1303Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg1304Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1308Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg1317Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1319Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1319His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1320= Single submitter hereditary neoplastic syndrome
p.Arg1338Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1338His Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg1342Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1345Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg1345Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg1345His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1350Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg135Gln Single submitter basal cell nevus syndrome 1 ⚠
p.Arg138Cys Single submitter holoprosencephaly 7 ⚠
p.Arg138His Single submitter hereditary neoplastic syndrome ⚠
p.Arg1394Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1442Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1442Trp Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Arg144Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg144His Single submitter hereditary neoplastic syndrome ⚠
p.Arg187His Single submitter hereditary neoplastic syndrome ⚠
p.Arg195Thr Single submitter hereditary neoplastic syndrome
p.Arg255Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg255Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg294His Single submitter hereditary neoplastic syndrome ⚠
p.Arg441His Single submitter hereditary neoplastic syndrome ⚠
p.Arg459Cys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg459His Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg543Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg543His Single submitter hereditary neoplastic syndrome ⚠
p.Arg571Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg73Trp Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg80Lys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg80Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg85Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg893Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg906His Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg942Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg945Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg945Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg982Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg982Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asn1000= Single submitter hereditary neoplastic syndrome
p.Asn1188Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn1191= Single submitter hereditary neoplastic syndrome
p.Asn1348Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn1348Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn1348Ser Single submitter holoprosencephaly 7 ⚠
p.Asn1351Asp Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Asn1351Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn1351Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Asn1447Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn1447Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn154Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn272Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn298Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Asn555Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn871Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn872Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn940Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn979Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp1110Asn Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Asp1146Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp1219His Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Asp1222Asn Single submitter basal cell nevus syndrome 1
p.Asp1305Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp1305Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp1434= Single submitter hereditary neoplastic syndrome
p.Asp217Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp260Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp260Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp293Gly Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Asp301Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp429Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp436Glu Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Asp461Asn Single submitter hereditary neoplastic syndrome
p.Asp857Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp878Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp879Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp894Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp930Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp951Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Cys1043Phe Single submitter hereditary neoplastic syndrome ⚠
p.Cys1365Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys1398Tyr Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Cys56Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Cys92Phe Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Cys92Tyr Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Cys98Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Gln11Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln1245Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln1253Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln1253Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gln1300Leu Single submitter hereditary neoplastic syndrome ⚠
p.Gln156His Single submitter hereditary neoplastic syndrome ⚠
p.Gln184Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gln184His Single submitter hereditary neoplastic syndrome ⚠
p.Gln242Glu Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gln361= Single submitter hereditary neoplastic syndrome
p.Gln501= Single submitter nevoid basal cell carcinoma syndrome
p.Gln938Glu Single submitter hereditary neoplastic syndrome ⚠
p.Glu1236Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu1273Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu1273Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu127Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu1438Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu1438Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu267= Single submitter hereditary neoplastic syndrome
p.Glu2fs Single submitter basal cell nevus syndrome 1 ⚠
p.Glu339= Single submitter hereditary neoplastic syndrome
p.Glu374Lys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Glu380Lys Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Glu48del Single submitter hereditary neoplastic syndrome
p.Glu53Gln Single submitter nevoid basal cell carcinoma syndrome
p.Glu63Gln Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Glu947Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu970Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu992Gly Single submitter hereditary neoplastic syndrome ⚠
p.Gly1012Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1109Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly110Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly1129Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1163Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1189Cys Single submitter hereditary neoplastic syndrome ⚠
p.Gly1189Ser Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1217Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1246Asp Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1248Ala Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1248Glu Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Gly1249Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1299= Single submitter nevoid basal cell carcinoma syndrome
p.Gly1310Asp Single submitter pituitary stalk interruption syndrome ⚠
p.Gly1310Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1329= Single submitter hereditary neoplastic syndrome
p.Gly1340= Single submitter hereditary neoplastic syndrome
p.Gly1340Asp Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly1343Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly134Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly1363Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly1388Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly1395Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly1400Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly1443Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly288Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Gly344Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly352= Single submitter nevoid basal cell carcinoma syndrome
p.Gly68Glu Single submitter basal cell nevus syndrome 1 ⚠
p.Gly854= Single submitter hereditary neoplastic syndrome
p.Gly866Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly891Ser Single submitter basal cell nevus syndrome 1 ⚠
p.Gly980Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly99Cys Single submitter hereditary neoplastic syndrome ⚠
p.His1215Asn Single submitter hereditary neoplastic syndrome ⚠
p.His1252Asp Single submitter hereditary neoplastic syndrome ⚠
p.His1252Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His1266Gln Single submitter hereditary neoplastic syndrome ⚠
p.His1276Arg Single submitter hereditary neoplastic syndrome ⚠
p.His1287_Pro1302del Single submitter nevoid basal cell carcinoma syndrome
p.His1347= Single submitter hereditary neoplastic syndrome
p.His1347Tyr Single submitter nevoid basal cell carcinoma syndrome ⚠
p.His1382Tyr Single submitter nevoid basal cell carcinoma syndrome
p.His1417Asn Single submitter nevoid basal cell carcinoma syndrome ⚠
p.His189Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.His289Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.His328Leu Single submitter hereditary neoplastic syndrome ⚠
p.His408Arg Single submitter hereditary neoplastic syndrome ⚠
p.His408del Single submitter hereditary neoplastic syndrome
p.Ile1022= Single submitter holoprosencephaly 7
p.Ile1022Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ile1074Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile108Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile1092Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile1108Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ile1148Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile1158Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile1161Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile1430Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Ile220Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile440Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile491Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile531Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ile565Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile899Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile921Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile991Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile997Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu1004Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu1016Phe Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu1024Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu1030Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu1060= Single submitter hereditary neoplastic syndrome
p.Leu106Arg Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu1086Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu1135Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu1159Pro Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu1175= Single submitter hereditary neoplastic syndrome
p.Leu121Phe Single submitter hereditary neoplastic syndrome
p.Leu121Val Single submitter basal cell carcinoma, susceptibility to, 1 ⚠
p.Leu1311Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu1311Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu170Val Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Leu223Ile Single submitter hereditary neoplastic syndrome ⚠
p.Leu396Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu448Ile Single submitter hereditary neoplastic syndrome ⚠
p.Lys1077= Single submitter nevoid basal cell carcinoma syndrome

Benign 92

c.1067+107G>A Multiple submitters
c.1067+139T>C Multiple submitters
c.1067+74A>G Multiple submitters
c.1216-201C>T Multiple submitters
c.1348-136C>T Multiple submitters
c.1504-51C>G Multiple submitters
c.1504-8T>C Multiple submitters hereditary neoplastic syndrome
c.198+261G>T Multiple submitters
c.201+101T>A Multiple submitters
c.201+272T>C Multiple submitters
c.201+275T>C Multiple submitters
c.2561-80G>C Multiple submitters
c.2887+21A>G Multiple submitters hereditary neoplastic syndrome
c.3307-152G>A Multiple submitters
c.3307-66G>C Multiple submitters
c.3449+129A>G Multiple submitters
c.394+71A>G Multiple submitters
c.395-172T>C Multiple submitters
c.747-114C>T Multiple submitters
c.747-55T>C Multiple submitters
c.-8727A>T Multiple submitters
c.*1+37A>G Multiple submitters
c.*1373G>C Multiple submitters holoprosencephaly 7
c.*1616A>C Multiple submitters holoprosencephaly 7
c.*1702C>T Multiple submitters holoprosencephaly 7
c.*1709G>A Multiple submitters holoprosencephaly 7
c.*1905C>G Multiple submitters holoprosencephaly 7
c.*2175G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.*2275T>A Multiple submitters holoprosencephaly 7
c.*237G>C Multiple submitters holoprosencephaly 7
c.*3030A>G Multiple submitters holoprosencephaly 7
c.*3232G>T Multiple submitters holoprosencephaly 7
p.Asn555= Multiple submitters hereditary neoplastic syndrome
p.Asp55His Multiple submitters
p.Gly1189= Multiple submitters hereditary neoplastic syndrome
p.Pro1307Ala Multiple submitters hereditary neoplastic syndrome
p.Pro1315Leu Multiple submitters basal cell nevus syndrome 1
p.Tyr971= Multiple submitters hereditary neoplastic syndrome
c.1504-8del Single submitter nevoid basal cell carcinoma syndrome
c.198+492G>A Single submitter
c.201+115_201+122del Single submitter
c.201+119_201+120del Single submitter
c.201+123_201+126del Single submitter
c.201+242GT[8] Single submitter
c.201+242GT[9] Single submitter
c.202-609C>G Single submitter
c.2561-207C>G Single submitter
c.2703+282G>A Single submitter
c.2704-69C>A Single submitter
c.2888-271G>A Single submitter
c.3306+83dup Single submitter
c.3805-197T>A Single submitter
c.3805-225C>T Single submitter
c.395-231T>C Single submitter
c.395-276_395-275insT Single submitter
c.395-82T>A Single submitter
c.584+177G>A Single submitter
c.-8_-7insGGC Single submitter
c.*105G>A Single submitter nevoid basal cell carcinoma syndrome
c.*1066A>C Single submitter holoprosencephaly 7
c.*1708C>T Single submitter holoprosencephaly 7
c.*1866TG[7] Single submitter
c.*1884CGTG[4] Single submitter
c.*2-5T>A Single submitter hereditary neoplastic syndrome
c.*2001C>T Single submitter nevoid basal cell carcinoma syndrome
c.*2070C>G Single submitter holoprosencephaly 7
c.*248C>T Single submitter holoprosencephaly 7
c.*3157G>A Single submitter holoprosencephaly 7
c.*664dup Single submitter
c.*780C>T Single submitter holoprosencephaly 7
c.*801C>T Single submitter holoprosencephaly 7
c.*851G>C Single submitter holoprosencephaly 7
p.Ala119Thr Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Arg1350Gly Single submitter nevoid basal cell carcinoma syndrome
p.Arg73Gly Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Glu339Gly Single submitter
p.Gly1217Glu Single submitter nevoid basal cell carcinoma syndrome
p.Gly1299Asp Single submitter nevoid basal cell carcinoma syndrome
p.His1266Tyr Single submitter nevoid basal cell carcinoma syndrome
p.His944Arg Single submitter nevoid basal cell carcinoma syndrome
p.Ile1085= Single submitter nevoid basal cell carcinoma syndrome
p.Leu1311= Single submitter nevoid basal cell carcinoma syndrome
p.Leu202Phe Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Lys418Asn Single submitter nevoid basal cell carcinoma syndrome
p.Phe112Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Phe376Leu Single submitter nevoid basal cell carcinoma syndrome ⚠
p.Pro1202Leu Single submitter
p.Pro1315Ala Single submitter nevoid basal cell carcinoma syndrome
p.Ser54= Single submitter nevoid basal cell carcinoma syndrome
p.Val1042= Single submitter nevoid basal cell carcinoma syndrome
p.Val1269Leu Single submitter ovarian cancer
p.Val1270Ala Single submitter nevoid basal cell carcinoma syndrome

Benign/Likely benign 109

c.1068-8T>C Multiple submitters nevoid basal cell carcinoma syndrome
c.1348-17del Multiple submitters nevoid basal cell carcinoma syndrome
c.1348-4G>A Multiple submitters hereditary neoplastic syndrome
c.1503+12G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1602+15_1602+17del Multiple submitters nevoid basal cell carcinoma syndrome
c.1603-9dup Multiple submitters nevoid basal cell carcinoma syndrome
c.1728+16T>A Multiple submitters nevoid basal cell carcinoma syndrome
c.2561-7T>C Multiple submitters nevoid basal cell carcinoma syndrome
c.2704-6T>C Multiple submitters basal cell nevus syndrome 1
c.2888-44C>T Multiple submitters
c.2888-8C>T Multiple submitters hereditary neoplastic syndrome
c.3169-12G>A Multiple submitters hereditary neoplastic syndrome
c.3169-17T>A Multiple submitters nevoid basal cell carcinoma syndrome
c.3169-5T>C Multiple submitters basal cell nevus syndrome 1
c.3804+32T>C Multiple submitters nevoid basal cell carcinoma syndrome
c.3805-9C>T Multiple submitters holoprosencephaly 7
c.584+10G>A Multiple submitters basal cell carcinoma, susceptibility to, 1
c.584+14C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.747-5del Multiple submitters nevoid basal cell carcinoma syndrome
c.945+20G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.946-13C>T Multiple submitters hereditary neoplastic syndrome
c.-132G>A Multiple submitters
c.*1535T>C Multiple submitters holoprosencephaly 7
c.*1545T>C Multiple submitters holoprosencephaly 7
c.*231T>C Multiple submitters holoprosencephaly 7
c.*3341T>C Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala1061= Multiple submitters basal cell nevus syndrome 1
p.Ala1080= Multiple submitters basal cell nevus syndrome 1
p.Ala1088Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala1115Val Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala1130= Multiple submitters hereditary neoplastic syndrome
p.Ala1353= Multiple submitters basal cell nevus syndrome 1
p.Ala393Thr Multiple submitters hereditary neoplastic syndrome
p.Ala562= Multiple submitters hereditary neoplastic syndrome
p.Ala58= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Ala933= Multiple submitters basal cell nevus syndrome 1
p.Ala933Thr Multiple submitters hereditary neoplastic syndrome
p.Ala953= Multiple submitters hereditary neoplastic syndrome
p.Arg1303Cys Multiple submitters holoprosencephaly 7
p.Arg1342His Multiple submitters hereditary neoplastic syndrome
p.Arg135= Multiple submitters hereditary neoplastic syndrome
p.Arg1350Trp Multiple submitters holoprosencephaly 7
p.Arg893His Multiple submitters hereditary neoplastic syndrome
p.Asn496= Multiple submitters hereditary neoplastic syndrome
p.Asn929= Multiple submitters holoprosencephaly 7
p.Asn979= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp1222= Multiple submitters basal cell nevus syndrome 1
p.Asp1321= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Asp436Asn Multiple submitters hereditary neoplastic syndrome
p.Asp878= Multiple submitters hereditary neoplastic syndrome
p.Asp898Asn Multiple submitters hereditary neoplastic syndrome
p.Gln274= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln413Arg Multiple submitters hereditary neoplastic syndrome
p.Glu1242Lys Multiple submitters hereditary neoplastic syndrome
p.Glu208= Multiple submitters hereditary neoplastic syndrome
p.Glu44Gly Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1023Ser Multiple submitters hereditary neoplastic syndrome
p.Gly105= Multiple submitters hereditary neoplastic syndrome
p.Gly1109= Multiple submitters hereditary neoplastic syndrome
p.Gly1129= Multiple submitters holoprosencephaly 7
p.Gly1212Ser Multiple submitters basal cell nevus syndrome 1
p.Gly1407Ser Multiple submitters hereditary neoplastic syndrome
p.Gly325= Multiple submitters hereditary neoplastic syndrome
p.His1406= Multiple submitters hereditary neoplastic syndrome
p.His189= Multiple submitters hereditary neoplastic syndrome
p.His358= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Ile1158Phe Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ile491= Multiple submitters hereditary neoplastic syndrome
p.Ile897Val Multiple submitters nevoid basal cell carcinoma syndrome
p.Ile913Val Multiple submitters hereditary neoplastic syndrome
p.Leu106= Multiple submitters holoprosencephaly 7
p.Leu107= Multiple submitters hereditary neoplastic syndrome
p.Leu116= Multiple submitters hereditary neoplastic syndrome
p.Lys353Arg Multiple submitters hereditary neoplastic syndrome
p.Lys391= Multiple submitters nevoid basal cell carcinoma syndrome
p.Met1209Val Multiple submitters hereditary neoplastic syndrome
p.Phe1145= Multiple submitters hereditary neoplastic syndrome
p.Phe1177= Multiple submitters hereditary neoplastic syndrome
p.Phe1264= Multiple submitters hereditary neoplastic syndrome
p.Phe422= Multiple submitters nevoid basal cell carcinoma syndrome
p.Pro1125= Multiple submitters hereditary neoplastic syndrome
p.Pro1196= Multiple submitters hereditary neoplastic syndrome
p.Pro1211= Multiple submitters hereditary neoplastic syndrome
p.Pro1279Leu Multiple submitters hereditary neoplastic syndrome
p.Pro1282Leu Multiple submitters hereditary neoplastic syndrome
p.Pro1294Leu Multiple submitters nevoid basal cell carcinoma syndrome
p.Pro1314Ser Multiple submitters hereditary neoplastic syndrome
p.Pro1318= Multiple submitters hereditary neoplastic syndrome
p.Pro1318Leu Multiple submitters hereditary neoplastic syndrome
p.Pro1362= Multiple submitters hereditary neoplastic syndrome
p.Pro870= Multiple submitters hereditary neoplastic syndrome
p.Pro964= Multiple submitters hereditary neoplastic syndrome
p.Ser1216= Multiple submitters hereditary neoplastic syndrome
p.Ser1280Leu Multiple submitters hereditary neoplastic syndrome
p.Ser1376= Multiple submitters holoprosencephaly 7
p.Ser547= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Thr1002= Multiple submitters hereditary neoplastic syndrome
p.Thr1195Ser Multiple submitters holoprosencephaly 7
p.Thr1229= Multiple submitters hereditary neoplastic syndrome
p.Thr1404Ala Multiple submitters ovarian cancer
p.Thr143= Multiple submitters nevoid basal cell carcinoma syndrome
p.Thr245= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Tyr373= Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Tyr379= Multiple submitters hereditary neoplastic syndrome
p.Val114= Multiple submitters hereditary neoplastic syndrome
p.Val1256Met Multiple submitters holoprosencephaly 7
c.*153T>C Single submitter nevoid basal cell carcinoma syndrome
c.*1889G>A Single submitter holoprosencephaly 7
c.*787C>T Single submitter nevoid basal cell carcinoma syndrome

Likely benign 1324

Showing the top 300 by review status; the full set is in the sitemap.

c.1067+14C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.1068-9G>A Multiple submitters hereditary neoplastic syndrome
c.1215+143C>T Multiple submitters
c.1215+15G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1215+15G>T Multiple submitters nevoid basal cell carcinoma syndrome
c.1215+19C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.1216-10G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.1347+5C>T Multiple submitters hereditary neoplastic syndrome
c.1347+9C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.1503+19A>T Multiple submitters nevoid basal cell carcinoma syndrome
c.1504-3dup Multiple submitters hereditary neoplastic syndrome
c.1504-4G>A Multiple submitters hereditary neoplastic syndrome
c.1504-4G>C Multiple submitters hereditary neoplastic syndrome
c.1603-16_1603-15del Multiple submitters nevoid basal cell carcinoma syndrome
c.1603-246C>T Multiple submitters
c.201+119T>A Multiple submitters
c.201+16T>C Multiple submitters nevoid basal cell carcinoma syndrome
c.201+17C>A Multiple submitters nevoid basal cell carcinoma syndrome
c.2561-20C>A Multiple submitters nevoid basal cell carcinoma syndrome
c.2703+13C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.2704-10G>A Multiple submitters hereditary neoplastic syndrome
c.2704-11C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.2704-4G>A Multiple submitters hereditary neoplastic syndrome
c.2704-4G>T Multiple submitters hereditary neoplastic syndrome
c.2704-5T>C Multiple submitters hereditary neoplastic syndrome
c.3169-4C>G Multiple submitters hereditary neoplastic syndrome
c.3169-4C>T Multiple submitters hereditary neoplastic syndrome
c.3306+11C>A Multiple submitters nevoid basal cell carcinoma syndrome
c.3306+6G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.3307-4A>C Multiple submitters hereditary neoplastic syndrome
c.3449+15G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.3450-15C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.3805-14C>G Multiple submitters nevoid basal cell carcinoma syndrome
c.3805-4G>A Multiple submitters hereditary neoplastic syndrome
c.394+212C>A Multiple submitters
c.394+24C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.394+37C>G Multiple submitters
c.395-12C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.584+15G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.584+19A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.584+9C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.585-5A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.655-12T>C Multiple submitters nevoid basal cell carcinoma syndrome
c.747-14A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.945+10A>C Multiple submitters nevoid basal cell carcinoma syndrome
c.945+112G>A Multiple submitters
c.945+19C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.946-13del Multiple submitters hereditary neoplastic syndrome
c.-86A>T Multiple submitters
p.Ala1037= Multiple submitters hereditary neoplastic syndrome
p.Ala1101= Multiple submitters hereditary neoplastic syndrome
p.Ala111= Multiple submitters hereditary neoplastic syndrome
p.Ala113= Multiple submitters hereditary neoplastic syndrome
p.Ala1157= Multiple submitters hereditary neoplastic syndrome
p.Ala119= Multiple submitters hereditary neoplastic syndrome
p.Ala1247= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala1265Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1337= Multiple submitters hereditary neoplastic syndrome
p.Ala1373= Multiple submitters hereditary neoplastic syndrome
p.Ala1375= Multiple submitters hereditary neoplastic syndrome
p.Ala1380= Multiple submitters hereditary neoplastic syndrome
p.Ala167= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala239= Multiple submitters hereditary neoplastic syndrome
p.Ala285= Multiple submitters hereditary neoplastic syndrome
p.Ala300= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala306Thr Multiple submitters hereditary neoplastic syndrome
p.Ala392= Multiple submitters hereditary neoplastic syndrome
p.Ala451= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala453= Multiple submitters hereditary neoplastic syndrome
p.Ala468= Multiple submitters hereditary neoplastic syndrome
p.Ala483= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala519= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala546= Multiple submitters hereditary neoplastic syndrome
p.Ala558= Multiple submitters hereditary neoplastic syndrome
p.Ala572= Multiple submitters hereditary neoplastic syndrome
p.Ala910= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala935= Multiple submitters hereditary neoplastic syndrome
p.Ala972= Multiple submitters hereditary neoplastic syndrome
p.Ala990= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1114= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1206= Multiple submitters hereditary neoplastic syndrome
p.Arg1206Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1239Gln Multiple submitters hereditary neoplastic syndrome
p.Arg1239Trp Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1275= Multiple submitters hereditary neoplastic syndrome
p.Arg1297Trp Multiple submitters hereditary neoplastic syndrome
p.Arg1303= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1319= Multiple submitters hereditary neoplastic syndrome
p.Arg1338= Multiple submitters hereditary neoplastic syndrome
p.Arg1350= Multiple submitters hereditary neoplastic syndrome
p.Arg1391= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1391Gln Multiple submitters hereditary neoplastic syndrome
p.Arg1391Trp Multiple submitters hereditary neoplastic syndrome
p.Arg1419= Multiple submitters hereditary neoplastic syndrome
p.Arg1419Gln Multiple submitters hereditary neoplastic syndrome
p.Arg1423= Multiple submitters hereditary neoplastic syndrome
p.Arg1442= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg187= Multiple submitters hereditary neoplastic syndrome
p.Arg255= Multiple submitters hereditary neoplastic syndrome
p.Arg255Gln Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg294= Multiple submitters hereditary neoplastic syndrome
p.Arg441= Multiple submitters hereditary neoplastic syndrome
p.Arg536= Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg571= Multiple submitters hereditary neoplastic syndrome
p.Arg73= Multiple submitters hereditary neoplastic syndrome
p.Arg982= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn1011= Multiple submitters hereditary neoplastic syndrome
p.Asn1112= Multiple submitters hereditary neoplastic syndrome
p.Asn1188= Multiple submitters hereditary neoplastic syndrome
p.Asn120= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn1281= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn1335= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn1348= Multiple submitters hereditary neoplastic syndrome
p.Asn1392= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn258= Multiple submitters hereditary neoplastic syndrome
p.Asn310= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asn324= Multiple submitters hereditary neoplastic syndrome
p.Asn349= Multiple submitters hereditary neoplastic syndrome
p.Asn388= Multiple submitters hereditary neoplastic syndrome
p.Asn528= Multiple submitters hereditary neoplastic syndrome
p.Asn875= Multiple submitters hereditary neoplastic syndrome
p.Asn940= Multiple submitters hereditary neoplastic syndrome
p.Asn97= Multiple submitters hereditary neoplastic syndrome
p.Asp1128= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp1289= Multiple submitters hereditary neoplastic syndrome
p.Asp1305= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp1405= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp1411= Multiple submitters hereditary neoplastic syndrome
p.Asp1424= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp260= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp276= Multiple submitters hereditary neoplastic syndrome
p.Asp301= Multiple submitters hereditary neoplastic syndrome
p.Asp318= Multiple submitters hereditary neoplastic syndrome
p.Asp428= Multiple submitters hereditary neoplastic syndrome
p.Asp436= Multiple submitters hereditary neoplastic syndrome
p.Asp57= Multiple submitters hereditary neoplastic syndrome
p.Asp909= Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp954Asn Multiple submitters hereditary neoplastic syndrome
p.Asp983= Multiple submitters hereditary neoplastic syndrome
p.Asp986= Multiple submitters nevoid basal cell carcinoma syndrome
p.Cys1038= Multiple submitters hereditary neoplastic syndrome
p.Cys1043= Multiple submitters nevoid basal cell carcinoma syndrome
p.Cys1365= Multiple submitters hereditary neoplastic syndrome
p.Cys1398= Multiple submitters nevoid basal cell carcinoma syndrome
p.Cys1420Arg Multiple submitters hereditary neoplastic syndrome
p.Cys1437= Multiple submitters hereditary neoplastic syndrome
p.Cys234= Multiple submitters hereditary neoplastic syndrome
p.Cys327= Multiple submitters hereditary neoplastic syndrome
p.Cys540= Multiple submitters hereditary neoplastic syndrome
p.Cys56= Multiple submitters hereditary neoplastic syndrome
p.Gln1228= Multiple submitters hereditary neoplastic syndrome
p.Gln1244= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln1253= Multiple submitters hereditary neoplastic syndrome
p.Gln1284= Multiple submitters hereditary neoplastic syndrome
p.Gln1300= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln145= Multiple submitters hereditary neoplastic syndrome
p.Gln156= Multiple submitters hereditary neoplastic syndrome
p.Gln160= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln184= Multiple submitters hereditary neoplastic syndrome
p.Gln196= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln242= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln417= Multiple submitters hereditary neoplastic syndrome
p.Gln64= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln84= Multiple submitters hereditary neoplastic syndrome
p.Gln889= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln938= Multiple submitters hereditary neoplastic syndrome
p.Gln95= Multiple submitters hereditary neoplastic syndrome
p.Glu1120= Multiple submitters hereditary neoplastic syndrome
p.Glu1144= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu122= Multiple submitters hereditary neoplastic syndrome
p.Glu1224= Multiple submitters hereditary neoplastic syndrome
p.Glu1237= Multiple submitters hereditary neoplastic syndrome
p.Glu1242= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu126= Multiple submitters hereditary neoplastic syndrome
p.Glu127= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu139= Multiple submitters hereditary neoplastic syndrome
p.Glu1403= Multiple submitters hereditary neoplastic syndrome
p.Glu1410= Multiple submitters hereditary neoplastic syndrome
p.Glu1421= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu1436= Multiple submitters hereditary neoplastic syndrome
p.Glu149= Multiple submitters hereditary neoplastic syndrome
p.Glu173= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu221= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu280= Multiple submitters hereditary neoplastic syndrome
p.Glu340= Multiple submitters hereditary neoplastic syndrome
p.Glu380= Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu48_Asn49insGlu Multiple submitters hereditary neoplastic syndrome
p.Glu864= Multiple submitters hereditary neoplastic syndrome
p.Glu947= Multiple submitters hereditary neoplastic syndrome
p.Glu970= Multiple submitters hereditary neoplastic syndrome
p.Glu989Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1023= Multiple submitters hereditary neoplastic syndrome
p.Gly1054= Multiple submitters hereditary neoplastic syndrome
p.Gly1072= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1075= Multiple submitters hereditary neoplastic syndrome
p.Gly1136= Multiple submitters hereditary neoplastic syndrome
p.Gly1163= Multiple submitters hereditary neoplastic syndrome
p.Gly1167= Multiple submitters hereditary neoplastic syndrome
p.Gly1212= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1217= Multiple submitters hereditary neoplastic syndrome
p.Gly1233= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1291= Multiple submitters hereditary neoplastic syndrome
p.Gly1296= Multiple submitters hereditary neoplastic syndrome
p.Gly1310= Multiple submitters hereditary neoplastic syndrome
p.Gly133= Multiple submitters hereditary neoplastic syndrome
p.Gly1332= Multiple submitters hereditary neoplastic syndrome
p.Gly1343= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1363= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1363Ser Multiple submitters hereditary neoplastic syndrome
p.Gly1390= Multiple submitters hereditary neoplastic syndrome
p.Gly1395= Multiple submitters hereditary neoplastic syndrome
p.Gly1396= Multiple submitters hereditary neoplastic syndrome
p.Gly1407= Multiple submitters hereditary neoplastic syndrome
p.Gly166= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly29Val Multiple submitters
p.Gly329= Multiple submitters hereditary neoplastic syndrome
p.Gly445= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly473= Multiple submitters hereditary neoplastic syndrome
p.Gly68= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly72= Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly866= Multiple submitters hereditary neoplastic syndrome
p.Gly876= Multiple submitters hereditary neoplastic syndrome
p.Gly99= Multiple submitters hereditary neoplastic syndrome
p.His1099= Multiple submitters nevoid basal cell carcinoma syndrome
p.His1121= Multiple submitters hereditary neoplastic syndrome
p.His1213= Multiple submitters hereditary neoplastic syndrome
p.His1215= Multiple submitters hereditary neoplastic syndrome
p.His1252= Multiple submitters hereditary neoplastic syndrome
p.His1287= Multiple submitters nevoid basal cell carcinoma syndrome
p.His1382= Multiple submitters hereditary neoplastic syndrome
p.His1413= Multiple submitters hereditary neoplastic syndrome
p.His1417= Multiple submitters hereditary neoplastic syndrome
p.His289= Multiple submitters hereditary neoplastic syndrome
p.His336= Multiple submitters hereditary neoplastic syndrome
p.His384= Multiple submitters hereditary neoplastic syndrome
p.His408= Multiple submitters nevoid basal cell carcinoma syndrome
p.His520= Multiple submitters hereditary neoplastic syndrome
p.His950= Multiple submitters hereditary neoplastic syndrome
p.Ile1032= Multiple submitters hereditary neoplastic syndrome
p.Ile1087= Multiple submitters hereditary neoplastic syndrome
p.Ile1108= Multiple submitters hereditary neoplastic syndrome
p.Ile1161= Multiple submitters hereditary neoplastic syndrome
p.Ile1255= Multiple submitters hereditary neoplastic syndrome
p.Ile1325= Multiple submitters hereditary neoplastic syndrome
p.Ile1368= Multiple submitters hereditary neoplastic syndrome
p.Ile228= Multiple submitters hereditary neoplastic syndrome
p.Ile395Val Multiple submitters hereditary neoplastic syndrome
p.Ile430= Multiple submitters hereditary neoplastic syndrome
p.Ile531= Multiple submitters hereditary neoplastic syndrome
p.Ile897= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ile921= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ile941= Multiple submitters nevoid basal cell carcinoma syndrome
p.Ile969= Multiple submitters hereditary neoplastic syndrome
p.Leu1004= Multiple submitters hereditary neoplastic syndrome
p.Leu1006= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1016= Multiple submitters hereditary neoplastic syndrome
p.Leu1024= Multiple submitters hereditary neoplastic syndrome
p.Leu1029= Multiple submitters hereditary neoplastic syndrome
p.Leu1030= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1041= Multiple submitters hereditary neoplastic syndrome
p.Leu1067= Multiple submitters hereditary neoplastic syndrome
p.Leu1073= Multiple submitters hereditary neoplastic syndrome
p.Leu1086= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1105= Multiple submitters hereditary neoplastic syndrome
p.Leu1135= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1138= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1140= Multiple submitters hereditary neoplastic syndrome
p.Leu1159= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1162= Multiple submitters hereditary neoplastic syndrome
p.Leu121= Multiple submitters hereditary neoplastic syndrome
p.Leu1234= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu128= Multiple submitters hereditary neoplastic syndrome
p.Leu1293= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu1397= Multiple submitters hereditary neoplastic syndrome
p.Leu140= Multiple submitters hereditary neoplastic syndrome
p.Leu1432= Multiple submitters hereditary neoplastic syndrome
p.Leu170= Multiple submitters hereditary neoplastic syndrome
p.Leu175= Multiple submitters hereditary neoplastic syndrome
p.Leu176= Multiple submitters hereditary neoplastic syndrome
p.Leu199= Multiple submitters hereditary neoplastic syndrome
p.Leu265= Multiple submitters hereditary neoplastic syndrome
p.Leu282= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu323= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu341= Multiple submitters hereditary neoplastic syndrome
p.Leu354= Multiple submitters hereditary neoplastic syndrome
p.Leu427= Multiple submitters hereditary neoplastic syndrome
p.Leu448= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu450= Multiple submitters hereditary neoplastic syndrome
p.Leu455= Multiple submitters hereditary neoplastic syndrome
p.Leu479= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu485= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu490= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu506= Multiple submitters nevoid basal cell carcinoma syndrome
p.Leu508= Multiple submitters hereditary neoplastic syndrome
p.Leu517= Multiple submitters hereditary neoplastic syndrome
p.Leu518= Multiple submitters hereditary neoplastic syndrome
p.Leu564= Multiple submitters hereditary neoplastic syndrome
p.Leu79= Multiple submitters hereditary neoplastic syndrome
p.Leu87= Multiple submitters hereditary neoplastic syndrome
p.Leu886= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2086

Showing the top 300 by review status; the full set is in the sitemap.

c.1067+5G>T Multiple submitters hereditary neoplastic syndrome
c.1215+4A>T Multiple submitters hereditary neoplastic syndrome
c.1728+3G>A Multiple submitters hereditary neoplastic syndrome
c.1728+3G>C Multiple submitters hereditary neoplastic syndrome
c.201+3G>A Multiple submitters nevoid basal cell carcinoma syndrome
c.201+3G>T Multiple submitters nevoid basal cell carcinoma syndrome
c.201+5A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.2703+4C>T Multiple submitters nevoid basal cell carcinoma syndrome
c.2887+4A>G Multiple submitters hereditary neoplastic syndrome
c.3449+3A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.3549+5G>T Multiple submitters nevoid basal cell carcinoma syndrome
c.3804+2dup Multiple submitters hereditary neoplastic syndrome
c.3804+3_3804+6del Multiple submitters hereditary neoplastic syndrome
c.3804+6T>G Multiple submitters nevoid basal cell carcinoma syndrome
c.3805-2A>G Multiple submitters nevoid basal cell carcinoma syndrome
c.746+3A>G Multiple submitters hereditary neoplastic syndrome
c.945+3G>A Multiple submitters hereditary neoplastic syndrome
c.*3272C>T Multiple submitters holoprosencephaly 7
p.1387PG[3] Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Ala1088Val Multiple submitters hereditary neoplastic syndrome
p.Ala1103Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1154Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala1154Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1157Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala118Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala118Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala119del Multiple submitters hereditary neoplastic syndrome
p.Ala1208Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1243Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1247Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1247Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1322Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1322Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1322Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1337Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala1344Asn Multiple submitters hereditary neoplastic syndrome
p.Ala1344Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1344Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala1373Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1375Ser Multiple submitters hereditary neoplastic syndrome
p.Ala1375Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1380Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala1380Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala167Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala182Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala185Val Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala239Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala300Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala308Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala320Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala357Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala359Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala394Val Multiple submitters hereditary neoplastic syndrome
p.Ala443Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala443Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala472Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala472Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala482Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala498Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala519Tyr Multiple submitters hereditary neoplastic syndrome
p.Ala521Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala549Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala558Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala563Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala563Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala569Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala572Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala572Thr Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Ala572Val Multiple submitters nevoid basal cell carcinoma syndrome
p.Ala58Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala58Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala58Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala59Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala61Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala61Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala70Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala70Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala75Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala75Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala81Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala81Thr Multiple submitters hereditary neoplastic syndrome
p.Ala858Ser Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Ala858Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Ala918Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala933Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala935Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala936Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala966Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1025Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1113Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1150Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1150Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1192Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1192Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1304Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1304Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1304Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1317Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1320Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1338Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1394Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Arg1419Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1422Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1423Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1423Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1423Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1440Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1440Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1440Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg1442Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg144Leu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg187Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg441Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg459Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg73Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg85Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg906Cys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg942Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg942Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Arg960Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg982Trp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1000Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1011Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1049Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1166Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1166Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1188Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1191His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1281Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1281Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1335Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn1335His Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Asn1335Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1392Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn141Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn168Asp Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Asn194Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn258Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn272His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn283Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn298Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn298His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn310Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn349Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn386Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn388Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn414Lys Multiple submitters hereditary neoplastic syndrome
p.Asn528His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn528Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn872Thr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn940Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asn979His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1110His Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1110Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1219Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1321Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1405Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1411Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1411Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1411Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1434Gly Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp1434Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp180Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp180His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp217Tyr Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Asp293Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp301Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp303His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp390His Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp428Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp429Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp513Asn Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp513Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp535Asn Multiple submitters hereditary neoplastic syndrome
p.Asp535Glu Multiple submitters hereditary neoplastic syndrome
p.Asp57Asn Multiple submitters nevoid basal cell carcinoma syndrome
p.Asp857Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp857Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp894Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp909His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp911Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp930Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp951Asn Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Asp951Glu Multiple submitters hereditary neoplastic syndrome
p.Asp951Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1398Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Cys1420Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1437Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1437Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys226Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys234Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys462Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys56Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln1228Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln1245Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln1284Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln1284Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln1301Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln1301Ter Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln1433Leu Multiple submitters hereditary neoplastic syndrome
p.Gln145Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln177His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln218Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln218Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln242Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln274Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln338Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln400His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln417Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln64Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln64His Multiple submitters nevoid basal cell carcinoma syndrome
p.Gln84Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gln889Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln905Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln95Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1095Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1120Lys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Glu1144Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1199Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1224Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu122Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu122Gln Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1237Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1242Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1257Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1324Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1328Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1403Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1410_Asp1411insThrGlu Multiple submitters hereditary neoplastic syndrome
p.Glu1421Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1428Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1428Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu1431Lys Multiple submitters nevoid basal cell carcinoma syndrome
p.Glu1436Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1439Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1439Ter Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Glu150Gly Multiple submitters hereditary neoplastic syndrome
p.Glu165del Multiple submitters hereditary neoplastic syndrome
p.Glu200Lys Multiple submitters hereditary neoplastic syndrome
p.Glu208Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu263Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu280Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu389Lys Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Glu524Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu63Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Glu63Lys Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly1005Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1023Ala Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly1054Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly1069Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1075Arg Multiple submitters basal cell carcinoma, susceptibility to, 1 ⚠
p.Gly1093Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly115Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1212fs Multiple submitters basal cell carcinoma, susceptibility to, 1
p.Gly1233Asp Multiple submitters hereditary neoplastic syndrome
p.Gly1246_Gln1253del Multiple submitters hereditary neoplastic syndrome
p.Gly1249Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1291Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1296Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1296Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1299Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1299Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly1363Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1388Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1390Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1390Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly1395Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1396Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1396fs Multiple submitters nevoid basal cell carcinoma syndrome
p.Gly1396Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly166Ser Multiple submitters PTCH1-related disorder ⚠
p.Gly214Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly214Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly288Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly288Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly290Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly325Ser Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly345Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly378Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly445Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly445Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly470Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly492Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly526Glu Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly538Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly72Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly854Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly866Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly876Val Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly99Asp Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.Gly99Val Multiple submitters hereditary neoplastic syndrome ⚠
p.His1099Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His1121Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.His1121Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.His1252Arg Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.His1252Pro Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.His1271Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His1271Tyr Multiple submitters nevoid basal cell carcinoma syndrome ⚠
p.His1277Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His1277Gln Multiple submitters hereditary neoplastic syndrome ⚠