CDK12 — 1651 ClinVar variants
All ClinVar germline CDK12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1045 flagged for review →
1 Likely pathogenic · 1 Conflicting · 19 Benign · 5 Benign/Likely benign · 584 Likely benign · 1041 Uncertain significance
Full CDK12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1045
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CDK12 p.Thr1447Ser
Conflicting
Single submitter
Hereditary cancer
Predictors lean, ClinVar uncertain 658
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 658
- CDK12 p.Ala1029Val Uncertain significance Single submitter
- CDK12 p.Ala1085Ser Uncertain significance Single submitter
- CDK12 p.Ala1098Pro Uncertain significance Single submitter
- CDK12 p.Ala1101Glu Uncertain significance Single submitter
- CDK12 p.Ala1101Ser Uncertain significance Single submitter
- CDK12 p.Ala1101Val Uncertain significance Single submitter
- CDK12 p.Ala1152Ser Uncertain significance Single submitter
- CDK12 p.Ala1152Val Uncertain significance Single submitter
- CDK12 p.Ala1159Gly Uncertain significance Single submitter
- CDK12 p.Ala1159Ser Uncertain significance Single submitter
- CDK12 p.Ala1174Asp Uncertain significance Single submitter
- CDK12 p.Ala1174Ser Uncertain significance Single submitter
- CDK12 p.Ala1182Ser Uncertain significance Single submitter
- CDK12 p.Ala1185Ser Uncertain significance Single submitter
- CDK12 p.Ala1185Val Uncertain significance Single submitter
- CDK12 p.Ala1211Ser Uncertain significance Single submitter
- CDK12 p.Ala1224Gly Uncertain significance Single submitter
- CDK12 p.Ala1224Val Uncertain significance Single submitter
- CDK12 p.Ala1252Glu Uncertain significance Single submitter
- CDK12 p.Ala1252Val Uncertain significance Single submitter
- CDK12 p.Ala125Pro Uncertain significance Single submitter
- CDK12 p.Ala1289Gly Uncertain significance Single submitter
- CDK12 p.Ala1289Thr Uncertain significance Single submitter
- CDK12 p.Ala1310Thr Uncertain significance Single submitter
- CDK12 p.Ala1310Val Uncertain significance Single submitter
- CDK12 p.Ala1322Gly Uncertain significance Single submitter
- CDK12 p.Ala1322Pro Uncertain significance Single submitter
- CDK12 p.Ala1361Val Uncertain significance Single submitter
- CDK12 p.Ala1411Val Uncertain significance Single submitter
- CDK12 p.Ala1433Gly Uncertain significance Single submitter
- CDK12 p.Ala1433Val Uncertain significance Single submitter
- CDK12 p.Ala1450Asp Uncertain significance Single submitter
- CDK12 p.Ala1450Thr Uncertain significance Single submitter
- CDK12 p.Ala1455Thr Uncertain significance Single submitter
- CDK12 p.Ala1467Thr Uncertain significance Single submitter
- CDK12 p.Ala164Thr Uncertain significance Single submitter
- CDK12 p.Ala167Gly Uncertain significance Single submitter
- CDK12 p.Ala240Val Uncertain significance Single submitter
- CDK12 p.Ala361Gly Uncertain significance Single submitter
- CDK12 p.Ala361Val Uncertain significance Single submitter
- CDK12 p.Ala413Val Uncertain significance Single submitter
- CDK12 p.Ala507Ser Uncertain significance Single submitter
- CDK12 p.Ala507Thr Uncertain significance Single submitter
- CDK12 p.Ala533Val Uncertain significance Single submitter
- CDK12 p.Ala559Thr Uncertain significance Single submitter
- CDK12 p.Ala572Thr Uncertain significance Single submitter
- CDK12 p.Ala578Pro Uncertain significance Single submitter
- CDK12 p.Ala578Ser Uncertain significance Single submitter
- CDK12 p.Ala599Gly Uncertain significance Single submitter
- CDK12 p.Ala599Thr Uncertain significance Single submitter
- CDK12 p.Ala618Val Uncertain significance Single submitter
- CDK12 p.Ala61Thr Uncertain significance Single submitter
- CDK12 p.Ala808Val Uncertain significance Single submitter
- CDK12 p.Ala876Thr Uncertain significance Single submitter
- CDK12 p.Ala992Ser Uncertain significance Single submitter
- CDK12 p.Arg100Ser Uncertain significance Single submitter
- CDK12 p.Arg1049Cys Uncertain significance Single submitter
- CDK12 p.Arg1049Leu Uncertain significance Single submitter
- CDK12 p.Arg1051Gln Uncertain significance Single submitter
- CDK12 p.Arg107Gly Uncertain significance Single submitter
- CDK12 p.Arg117Gly Uncertain significance Single submitter
- CDK12 p.Arg118His Uncertain significance Single submitter
- CDK12 p.Arg1242Gln Uncertain significance Single submitter
- CDK12 p.Arg1242Gly Uncertain significance Single submitter
- CDK12 p.Arg1265Lys Uncertain significance Single submitter
- CDK12 p.Arg1324Lys Uncertain significance Single submitter
- CDK12 p.Arg1324Ser Uncertain significance Single submitter
- CDK12 p.Arg1331Gln Uncertain significance Single submitter
- CDK12 p.Arg1333Pro Uncertain significance Single submitter
- CDK12 p.Arg1374Gly Uncertain significance Single submitter
- CDK12 p.Arg1404Cys Uncertain significance Single submitter
- CDK12 p.Arg1473Pro Uncertain significance Single submitter
- CDK12 p.Arg1477Gly Uncertain significance Single submitter
- CDK12 p.Arg153Gly Uncertain significance Single submitter
- CDK12 p.Arg153His Uncertain significance Single submitter
- CDK12 p.Arg153Leu Uncertain significance Single submitter
- CDK12 p.Arg175Gly Uncertain significance Single submitter
- CDK12 p.Arg197Gly Uncertain significance Single submitter
- CDK12 p.Arg297Lys Uncertain significance Single submitter
- CDK12 p.Arg315Gly Uncertain significance Single submitter
- CDK12 p.Arg315Ile Uncertain significance Single submitter
- CDK12 p.Arg350Lys Uncertain significance Single submitter
- CDK12 p.Arg35Cys Uncertain significance Single submitter
- CDK12 p.Arg35Leu Uncertain significance Single submitter
- CDK12 p.Arg374Lys Uncertain significance Single submitter
- CDK12 p.Arg37Gly Uncertain significance Single submitter
- CDK12 p.Arg37Leu Uncertain significance Single submitter
- CDK12 p.Arg429Gly Uncertain significance Single submitter
- CDK12 p.Arg449Gly Uncertain significance Single submitter
- CDK12 p.Arg449Ser Uncertain significance Single submitter
- CDK12 p.Arg44Gly Uncertain significance Single submitter
- CDK12 p.Arg661Lys Uncertain significance Single submitter
- CDK12 p.Arg663His Uncertain significance Single submitter
- CDK12 p.Arg6Thr Uncertain significance Single submitter
- CDK12 p.Arg701Gly Uncertain significance Single submitter
- CDK12 p.Arg708Cys Uncertain significance Single submitter
- CDK12 p.Arg708His Uncertain significance Single submitter
- CDK12 p.Arg722Cys Uncertain significance Single submitter
- CDK12 p.Arg784Pro Uncertain significance Single submitter
- CDK12 p.Arg93Pro Uncertain significance Single submitter
- CDK12 p.Arg950Gln Uncertain significance Single submitter
- CDK12 p.Arg99Gly Uncertain significance Single submitter
- CDK12 p.Asn1154Ser Uncertain significance Single submitter
- CDK12 p.Asn1230Ser Uncertain significance Single submitter
- CDK12 p.Asn1335Asp Uncertain significance Single submitter
- CDK12 p.Asn1335Lys Uncertain significance Single submitter
- CDK12 p.Asn1335Thr Uncertain significance Single submitter
- CDK12 p.Asn1357Tyr Uncertain significance Single submitter
- CDK12 p.Asn1373Asp Uncertain significance Single submitter
- CDK12 p.Asn1428Ser Uncertain significance Single submitter
- CDK12 p.Asn258His Uncertain significance Single submitter
- CDK12 p.Asn258Ser Uncertain significance Single submitter
- CDK12 p.Asn3Ser Uncertain significance Single submitter
- CDK12 p.Asn432Asp Uncertain significance Single submitter
- CDK12 p.Asn432His Uncertain significance Single submitter
- CDK12 p.Asn762Ser Uncertain significance Single submitter
- CDK12 p.Asn894Asp Uncertain significance Single submitter
- CDK12 p.Asn939Ser Uncertain significance Single submitter
- CDK12 p.Asn96Lys Uncertain significance Single submitter
- CDK12 p.Asp1004Glu Uncertain significance Single submitter
- CDK12 p.Asp1038His Uncertain significance Single submitter
- CDK12 p.Asp1106Glu Uncertain significance Single submitter
- CDK12 p.Asp1128Asn Uncertain significance Single submitter
- CDK12 p.Asp1169Asn Uncertain significance Single submitter
- CDK12 p.Asp1169Val Uncertain significance Single submitter
- CDK12 p.Asp1233Gly Uncertain significance Single submitter
- CDK12 p.Asp12Glu Uncertain significance Single submitter
- CDK12 p.Asp1342His Uncertain significance Single submitter
- CDK12 p.Asp1352Gly Uncertain significance Single submitter
- CDK12 p.Asp1352Val Uncertain significance Single submitter
- CDK12 p.Asp1354Gly Uncertain significance Single submitter
- CDK12 p.Asp145Glu Uncertain significance Single submitter
- CDK12 p.Asp160Ala Uncertain significance Single submitter
- CDK12 p.Asp160Asn Uncertain significance Single submitter
- CDK12 p.Asp229Ala Uncertain significance Single submitter
- CDK12 p.Asp234Glu Uncertain significance Single submitter
- CDK12 p.Asp234Gly Uncertain significance Single submitter
- CDK12 p.Asp235Gly Uncertain significance Single submitter
- CDK12 p.Asp247Asn Uncertain significance Single submitter
- CDK12 p.Asp260Glu Uncertain significance Single submitter
- CDK12 p.Asp416Val Uncertain significance Single submitter
- CDK12 p.Asp439Gly Uncertain significance Single submitter
- CDK12 p.Asp459Gly Uncertain significance Single submitter
- CDK12 p.Asp477His Uncertain significance Single submitter
- CDK12 p.Asp477Val Uncertain significance Single submitter
- CDK12 p.Asp502Gly Uncertain significance Single submitter
- CDK12 p.Asp643Val Uncertain significance Single submitter
- CDK12 p.Asp679Glu Uncertain significance Single submitter
- CDK12 p.Asp684His Uncertain significance Single submitter
- CDK12 p.Asp718Glu Uncertain significance Single submitter
Predictors split 386
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 386
-
CDK12 p.Pro1275Leu
Benign/Likely benign
Multiple submitters
hereditary breast ovarian cancer syndrome
-
CDK12 p.Thr1195Met
Benign/Likely benign
Multiple submitters
hereditary breast ovarian cancer syndrome
- CDK12 p.Ala1211Val Uncertain significance Single submitter
- CDK12 p.Ala1296Val Uncertain significance Single submitter
- CDK12 p.Ala1299Thr Uncertain significance Single submitter
- CDK12 p.Ala1300Val Uncertain significance Single submitter
- CDK12 p.Ala408Val Uncertain significance Single submitter
- CDK12 p.Ala409Val Uncertain significance Single submitter
- CDK12 p.Ala411Ser Uncertain significance Single submitter
- CDK12 p.Ala617Gly Uncertain significance Single submitter
- CDK12 p.Ala808Ser Uncertain significance Single submitter
- CDK12 p.Ala938Ser Uncertain significance Single submitter
- CDK12 p.Arg118Cys Uncertain significance Single submitter
- CDK12 p.Arg120Trp Uncertain significance Single submitter
- CDK12 p.Arg1404His Uncertain significance Single submitter
- CDK12 p.Arg1407Met Uncertain significance Single submitter
- CDK12 p.Arg1473Gln Uncertain significance Single submitter
- CDK12 p.Arg1473Trp Uncertain significance Single submitter
- CDK12 p.Arg1477Thr Uncertain significance Single submitter
- CDK12 p.Arg1481Gly Uncertain significance Single submitter
- CDK12 p.Arg188Gln Uncertain significance Single submitter
- CDK12 p.Arg197Leu Uncertain significance Single submitter
- CDK12 p.Arg202Gly Uncertain significance Single submitter
- CDK12 p.Arg219Ser Uncertain significance Single submitter
- CDK12 p.Arg225Gly Uncertain significance Single submitter
- CDK12 p.Arg271Ile Uncertain significance Single submitter
- CDK12 p.Arg272Ser Uncertain significance Single submitter
- CDK12 p.Arg290Trp Uncertain significance Single submitter
- CDK12 p.Arg307Gly Uncertain significance Single submitter
- CDK12 p.Arg307Lys Uncertain significance Single submitter
- CDK12 p.Arg307Ser Uncertain significance Single submitter
- CDK12 p.Arg315Lys Uncertain significance Single submitter
- CDK12 p.Arg315Thr Uncertain significance Single submitter
- CDK12 p.Arg330Ser Uncertain significance Single submitter
- CDK12 p.Arg340Pro Uncertain significance Single submitter
- CDK12 p.Arg350Gly Uncertain significance Single submitter
- CDK12 p.Arg356Gly Uncertain significance Single submitter
- CDK12 p.Arg374Ile Uncertain significance Single submitter
- CDK12 p.Arg378His Uncertain significance Single submitter
- CDK12 p.Arg378Leu Uncertain significance Single submitter
- CDK12 p.Arg37Cys Uncertain significance Single submitter
- CDK12 p.Arg380His Uncertain significance Single submitter
- CDK12 p.Arg712Ile Uncertain significance Single submitter
- CDK12 p.Arg99Cys Uncertain significance Single submitter
- CDK12 p.Asn1121Lys Uncertain significance Single submitter
- CDK12 p.Asn1139Lys Uncertain significance Single submitter
- CDK12 p.Asn885Thr Uncertain significance Single submitter
- CDK12 p.Asn970Ser Uncertain significance Single submitter
- CDK12 p.Asp1022Asn Uncertain significance Single submitter
- CDK12 p.Asp1169Tyr Uncertain significance Single submitter
- CDK12 p.Asp1400His Uncertain significance Single submitter
- CDK12 p.Asp484Tyr Uncertain significance Single submitter
- CDK12 p.Asp639His Uncertain significance Single submitter
- CDK12 p.Asp639Val Uncertain significance Single submitter
- CDK12 p.Asp640Asn Uncertain significance Single submitter
- CDK12 p.Asp640Gly Uncertain significance Single submitter
- CDK12 p.Asp641Tyr Uncertain significance Single submitter
- CDK12 p.Asp643Asn Uncertain significance Single submitter
- CDK12 p.Asp668Glu Uncertain significance Single submitter
- CDK12 p.Asp679Ala Uncertain significance Single submitter
- CDK12 p.Asp679Val Uncertain significance Single submitter
- CDK12 p.Asp85His Uncertain significance Single submitter
- CDK12 p.Asp995Gly Uncertain significance Single submitter
- CDK12 p.Cys922Ser Uncertain significance Single submitter
- CDK12 p.Gln1109Glu Uncertain significance Single submitter
- CDK12 p.Gln1149His Uncertain significance Single submitter
- CDK12 p.Gln1207Arg Uncertain significance Single submitter
- CDK12 p.Gln562Arg Uncertain significance Single submitter
- CDK12 p.Gln872His Uncertain significance Single submitter
- CDK12 p.Gln872Lys Uncertain significance Single submitter
- CDK12 p.Glu1012Gln Uncertain significance Single submitter
- CDK12 p.Glu1193Lys Uncertain significance Single submitter
- CDK12 p.Glu173Lys Uncertain significance Single submitter
- CDK12 p.Glu182Lys Uncertain significance Single submitter
- CDK12 p.Glu189Lys Uncertain significance Single submitter
- CDK12 p.Glu205Gln Uncertain significance Single submitter
- CDK12 p.Glu454Gln Uncertain significance Single submitter
- CDK12 p.Glu511Asp Uncertain significance Single submitter
- CDK12 p.Glu524Gly Uncertain significance Single submitter
- CDK12 p.Glu72Asp Uncertain significance Single submitter
- CDK12 p.Glu751Gln Uncertain significance Single submitter
- CDK12 p.Glu833Asp Uncertain significance Single submitter
- CDK12 p.Glu910Gln Uncertain significance Single submitter
- CDK12 p.Gly1054Cys Uncertain significance Single submitter
- CDK12 p.Gly1054Ser Uncertain significance Single submitter
- CDK12 p.Gly1097Trp Uncertain significance Single submitter
- CDK12 p.Gly1099Arg Uncertain significance Single submitter
- CDK12 p.Gly1271Arg Uncertain significance Single submitter
- CDK12 p.Gly1399Arg Uncertain significance Single submitter
- CDK12 p.Gly13Arg Uncertain significance Single submitter
- CDK12 p.Gly1461Cys Uncertain significance Single submitter
- CDK12 p.Gly1482Ala Uncertain significance Single submitter
- CDK12 p.Gly1482Val Uncertain significance Single submitter
- CDK12 p.Gly243Cys Uncertain significance Single submitter
- CDK12 p.Gly26Glu Uncertain significance Single submitter
- CDK12 p.Gly317Asp Uncertain significance Single submitter
- CDK12 p.Gly417Arg Uncertain significance Single submitter
- CDK12 p.Gly678Arg Uncertain significance Single submitter
- CDK12 p.His1035Arg Uncertain significance Single submitter
- CDK12 p.His1035Leu Uncertain significance Single submitter
- CDK12 p.His113Gln Uncertain significance Single submitter
- CDK12 p.His116Tyr Uncertain significance Single submitter
- CDK12 p.His194Gln Uncertain significance Single submitter
- CDK12 p.His194Tyr Uncertain significance Single submitter
- CDK12 p.His365Leu Uncertain significance Single submitter
- CDK12 p.His381Leu Uncertain significance Single submitter
- CDK12 p.His42Tyr Uncertain significance Single submitter
- CDK12 p.His45Leu Uncertain significance Single submitter
- CDK12 p.His7Asp Uncertain significance Single submitter
- CDK12 p.His830Pro Uncertain significance Single submitter
- CDK12 p.His830Tyr Uncertain significance Single submitter
- CDK12 p.His999Arg Uncertain significance Single submitter
- CDK12 p.Ile1131Asn Uncertain significance Single submitter
- CDK12 p.Ile384Ser Uncertain significance Single submitter
- CDK12 p.Ile704Phe Uncertain significance Single submitter
- CDK12 p.Ile729Val Uncertain significance Single submitter
- CDK12 p.Ile76Thr Uncertain significance Single submitter
- CDK12 p.Ile917Val Uncertain significance Single submitter
- CDK12 p.Ile935Val Uncertain significance Single submitter
- CDK12 p.Leu1020Ile Uncertain significance Single submitter
- CDK12 p.Leu1042Met Uncertain significance Single submitter
- CDK12 p.Leu1104Arg Uncertain significance Single submitter
- CDK12 p.Leu1116Phe Uncertain significance Single submitter
- CDK12 p.Leu1150Val Uncertain significance Single submitter
- CDK12 p.Leu1160Arg Uncertain significance Single submitter
-
CDK12 p.Leu1189Arg
Uncertain significance
Single submitter
hereditary breast ovarian cancer syndrome
- CDK12 p.Leu1197His Uncertain significance Single submitter
- CDK12 p.Leu1197Phe Uncertain significance Single submitter
- CDK12 p.Leu1210Phe Uncertain significance Single submitter
- CDK12 p.Leu1210Val Uncertain significance Single submitter
- CDK12 p.Leu1213Ile Uncertain significance Single submitter
- CDK12 p.Leu1260Phe Uncertain significance Single submitter
- CDK12 p.Leu1286Phe Uncertain significance Single submitter
- CDK12 p.Leu1304Phe Uncertain significance Single submitter
- CDK12 p.Leu1304Val Uncertain significance Single submitter
- CDK12 p.Leu1403Phe Uncertain significance Single submitter
- CDK12 p.Leu179Phe Uncertain significance Single submitter
- CDK12 p.Leu21Phe Uncertain significance Single submitter
- CDK12 p.Leu38Phe Uncertain significance Single submitter
- CDK12 p.Leu38Trp Uncertain significance Single submitter
- CDK12 p.Leu483Phe Uncertain significance Single submitter
- CDK12 p.Leu508Met Uncertain significance Single submitter
- CDK12 p.Leu529Ile Uncertain significance Single submitter
- CDK12 p.Leu529Phe Uncertain significance Single submitter
- CDK12 p.Leu560Phe Uncertain significance Single submitter
- CDK12 p.Leu566Arg Uncertain significance Single submitter
- CDK12 p.Leu649Phe Uncertain significance Single submitter
- CDK12 p.Leu671Phe Uncertain significance Single submitter
- CDK12 p.Leu680Gln Uncertain significance Single submitter
- CDK12 p.Leu680Val Uncertain significance Single submitter
All CDK12 variants
Likely pathogenic 1
- p.Gly879Val No assertion criteria lung adenocarcinoma
Conflicting classifications of pathogenicity 1
- p.Thr1447Ser Single submitter Hereditary cancer ⚠
Benign 19
- c.2666+17A>C Multiple submitters hereditary breast ovarian cancer syndrome
- c.2769-74G>A Multiple submitters hereditary breast ovarian cancer syndrome
- c.2846+157G>T Multiple submitters
- c.2963+111T>A Multiple submitters
- c.2963+133G>A Multiple submitters
- c.3308-116C>T Multiple submitters
- c.3760+88A>G Multiple submitters
- c.-105C>T Multiple submitters
- p.Ser238= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Thr1161= Multiple submitters hereditary breast ovarian cancer syndrome
- c.1047-169G>A Single submitter
- c.1932-181dup Single submitter
- c.1932-221T>C Single submitter
- c.2248+276G>T Single submitter
- c.2248+291_2248+292dup Single submitter
- c.2249-208G>A Single submitter
- c.2420-33dup Single submitter
- c.2963+252T>C Single submitter
- c.3307+194C>T Single submitter
Benign/Likely benign 5
- c.2108+56T>A Multiple submitters hereditary breast ovarian cancer syndrome
- p.Ile1131Val Multiple submitters hereditary breast ovarian cancer syndrome
- p.Pro1275Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Ser434= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Thr1195Met Multiple submitters hereditary breast ovarian cancer syndrome ⚠
Likely benign 584
Showing the top 300 by review status; the full set is in the sitemap.
- c.3308-26A>G Multiple submitters hereditary breast ovarian cancer syndrome
- p.Arg1008= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Arg322= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Gly734= Multiple submitters
- p.Leu1189Gln Multiple submitters hereditary breast ovarian cancer syndrome
- p.Phe988= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Ser1096Pro Multiple submitters hereditary breast ovarian cancer syndrome
- p.Thr269= Multiple submitters hereditary breast ovarian cancer syndrome
- p.Val1416= Multiple submitters
- c.1932-47C>T Single submitter hereditary breast ovarian cancer syndrome
- c.2248+61T>G Single submitter hereditary breast ovarian cancer syndrome
- c.2249-32T>C Single submitter hereditary breast ovarian cancer syndrome
- c.2249-36C>T Single submitter hereditary breast ovarian cancer syndrome
- c.2667-12T>A Single submitter hereditary breast ovarian cancer syndrome
- c.2667-80T>C Single submitter hereditary breast ovarian cancer syndrome
- c.2846+44A>G Single submitter hereditary breast ovarian cancer syndrome
- c.2847-48G>C Single submitter hereditary breast ovarian cancer syndrome
- c.2964-84G>A Single submitter hereditary breast ovarian cancer syndrome
- p.Ala1085= Single submitter
- p.Ala1101= Single submitter
- p.Ala1105= Single submitter hereditary breast ovarian cancer syndrome
- p.Ala1117= Single submitter
- p.Ala1159= Single submitter
- p.Ala1174= Single submitter
- p.Ala1185= Single submitter
- p.Ala1192= Single submitter
- p.Ala1211= Single submitter
- p.Ala1296= Single submitter
- p.Ala1299= Single submitter
- p.Ala1361= Single submitter
- p.Ala1411= Single submitter
- p.Ala1423= Single submitter
- p.Ala1450= Single submitter
- p.Ala164= Single submitter
- p.Ala167= Single submitter
- p.Ala240= Single submitter
- p.Ala284= Single submitter
- p.Ala361= Single submitter
- p.Ala407= Single submitter
- p.Ala410= Single submitter
- p.Ala412= Single submitter
- p.Ala413= Single submitter
- p.Ala497= Single submitter
- p.Ala507= Single submitter
- p.Ala533= Single submitter
- p.Ala559= Single submitter
- p.Ala572= Single submitter
- p.Ala594= Single submitter
- p.Ala61= Single submitter
- p.Ala799= Single submitter
- p.Ala808= Single submitter
- p.Ala876= Single submitter
- p.Ala881= Single submitter
- p.Ala938= Single submitter
- p.Ala993= Single submitter
- p.Arg1051= Single submitter
- p.Arg112= Single submitter
- p.Arg1242= Single submitter
- p.Arg1265= Single submitter
- p.Arg1331= Single submitter
- p.Arg1374= Single submitter
- p.Arg1407= Single submitter
- p.Arg1473= Single submitter
- p.Arg1477= Single submitter
- p.Arg1486= Single submitter
- p.Arg175= Single submitter
- p.Arg185= Single submitter
- p.Arg202= Single submitter
- p.Arg218= Single submitter
- p.Arg221= Single submitter
- p.Arg272= Single submitter
- p.Arg307= Single submitter
- p.Arg309= Single submitter
- p.Arg315= Single submitter
- p.Arg329= Single submitter
- p.Arg340= Single submitter
- p.Arg344= Single submitter
- p.Arg378= Single submitter
- p.Arg401= Single submitter
- p.Arg429= Single submitter
- p.Arg44= Single submitter
- p.Arg501= Single submitter
- p.Arg713= Single submitter
- p.Arg773= Single submitter
- p.Arg890= Single submitter
- p.Arg93= Single submitter
- p.Arg94= Single submitter
- p.Arg99= Single submitter
- p.Asn1121= Single submitter
- p.Asn1154= Single submitter
- p.Asn1231= Single submitter
- p.Asn1235= Single submitter
- p.Asn1294= Single submitter
- p.Asn1335= Single submitter
- p.Asn1357= Single submitter
- p.Asn1428= Single submitter
- p.Asn31= Single submitter
- p.Asn464= Single submitter
- p.Asn469= Single submitter
- p.Asn864= Single submitter
- p.Asn885= Single submitter
- p.Asp1004= Single submitter
- p.Asp106= Single submitter
- p.Asp1106= Single submitter
- p.Asp12= Single submitter
- p.Asp1342= Single submitter
- p.Asp145= Single submitter
- p.Asp159= Single submitter
- p.Asp214= Single submitter
- p.Asp229= Single submitter
- p.Asp234= Single submitter
- p.Asp235= Single submitter
- p.Asp247= Single submitter
- p.Asp416= Single submitter
- p.Asp484= Single submitter
- p.Asp52= Single submitter
- p.Asp684= Single submitter
- p.Asp74= Single submitter
- p.Asp75= Single submitter
- p.Asp761= Single submitter
- p.Asp817= Single submitter
- p.Asp834= Single submitter
- p.Asp85= Single submitter
- p.Asp877= Single submitter
- p.Gln1037= Single submitter
- p.Gln1052= Single submitter
- p.Gln1133= Single submitter
- p.Gln1155= Single submitter
- p.Gln1239= Single submitter
- p.Gln1249= Single submitter
- p.Gln1291= Single submitter
- p.Gln1303= Single submitter
- p.Gln1321= Single submitter
- p.Gln134= Single submitter
- p.Gln1368= Single submitter
- p.Gln1396= Single submitter
- p.Gln244= Single submitter
- p.Gln286= Single submitter
- p.Gln612= Single submitter
- p.Gln714= Single submitter
- p.Gln797= Single submitter
- p.Gln842= Single submitter
- p.Gln977= Single submitter
- p.Glu1012= Single submitter
- p.Glu1069= Single submitter
- p.Glu1095= Single submitter
- p.Glu1177= Single submitter
- p.Glu1229= Single submitter
- p.Glu1250= Single submitter
- p.Glu129= Single submitter
- p.Glu1292= Single submitter
- p.Glu1327= Single submitter
- p.Glu1442= Single submitter
- p.Glu157= Single submitter
- p.Glu173= Single submitter
- p.Glu182= Single submitter
- p.Glu431= Single submitter
- p.Glu436= Single submitter
- p.Glu443= Single submitter
- p.Glu471= Single submitter
- p.Glu517= Single submitter
- p.Glu59= Single submitter
- p.Glu657= Single submitter
- p.Glu735= Single submitter
- p.Glu751= Single submitter
- p.Glu774= Single submitter
- p.Glu825= Single submitter
- p.Glu833= Single submitter
- p.Glu845= Single submitter
- p.Glu905= Single submitter
- p.Glu911= Single submitter
- p.Glu928= Single submitter
- p.Glu941= Single submitter
- p.Glu98= Single submitter
- p.Glu985= Single submitter
- p.Gly101= Single submitter
- p.Gly1054= Single submitter
- p.Gly1097= Single submitter
- p.Gly1225= Single submitter
- p.Gly1240= Single submitter
- p.Gly1271= Single submitter
- p.Gly1284= Single submitter
- p.Gly13= Single submitter
- p.Gly1339= Single submitter
- p.Gly1343= Single submitter
- p.Gly1391= Single submitter
- p.Gly1393= Single submitter
- p.Gly1399= Single submitter
- p.Gly141= Single submitter
- p.Gly1444= Single submitter
- p.Gly1460= Single submitter
- p.Gly1469= Single submitter
- p.Gly1474= Single submitter
- p.Gly1483= Single submitter
- p.Gly1485= Single submitter
- p.Gly15= Single submitter
- p.Gly19= Single submitter
- p.Gly193= Single submitter
- p.Gly243= Single submitter
- p.Gly27= Single submitter
- p.Gly28= Single submitter
- p.Gly317= Single submitter
- p.Gly321= Single submitter
- p.Gly396= Single submitter
- p.Gly417= Single submitter
- p.Gly677= Single submitter
- p.Gly710= Single submitter
- p.Gly720= Single submitter
- p.Gly731= Single submitter
- p.Gly739= Single submitter
- p.Gly8= Single submitter
- p.Gly822= Single submitter
- p.Gly827= Single submitter
- p.Gly846= Single submitter
- p.Gly871= Single submitter
- p.Gly909= Single submitter
- p.Gly923= Single submitter
- p.His113= Single submitter
- p.His1315= Single submitter
- p.His1320= Single submitter
- p.His1382= Single submitter
- p.His1413= Single submitter
- p.His1432= Single submitter
- p.His254= Single submitter
- p.His369= Single submitter
- p.His42= Single submitter
- p.His45= Single submitter
- p.His49= Single submitter
- p.His830= Single submitter
- p.Ile1131= Single submitter
- p.Ile1140= Single submitter
- p.Ile1157= Single submitter
- p.Ile1209= Single submitter
- p.Ile1259= Single submitter
- p.Ile506Val Single submitter
- p.Ile512= Single submitter
- p.Ile557Val Single submitter
- p.Ile691= Single submitter
- p.Ile704= Single submitter
- p.Ile730= Single submitter
- p.Ile76= Single submitter
- p.Ile769= Single submitter
- p.Ile775= Single submitter
- p.Ile777= Single submitter
- p.Ile792= Single submitter
- p.Ile865= Single submitter
- p.Ile964= Single submitter
- p.Ile989= Single submitter
- p.Leu1001= Single submitter
- p.Leu1003= Single submitter
- p.Leu1015= Single submitter
- p.Leu1025= Single submitter
- p.Leu1033= Single submitter
- p.Leu1042= Single submitter
- p.Leu1104= Single submitter
- p.Leu1111= Single submitter
- p.Leu1120= Single submitter
- p.Leu1122= Single submitter
- p.Leu1129= Single submitter
- p.Leu1137= Single submitter
- p.Leu1138= Single submitter
- p.Leu1150= Single submitter
- p.Leu1160= Single submitter
- p.Leu1189= Single submitter
- p.Leu1197Pro Single submitter
- p.Leu122= Single submitter
- p.Leu1227= Single submitter
- p.Leu123= Single submitter
- p.Leu1281= Single submitter
- p.Leu1302= Single submitter
- p.Leu1362= Single submitter
- p.Leu1366= Single submitter
- p.Leu1370= Single submitter
- p.Leu1380= Single submitter
- p.Leu1410= Single submitter
- p.Leu1412= Single submitter
- p.Leu1421= Single submitter
- p.Leu1457= Single submitter
- p.Leu179= Single submitter
- p.Leu190= Single submitter
- p.Leu21= Single submitter
- p.Leu337= Single submitter
- p.Leu342= Single submitter
- p.Leu347= Single submitter
- p.Leu391= Single submitter
- p.Leu399= Single submitter
- p.Leu462= Single submitter
- p.Leu468= Single submitter
- p.Leu491= Single submitter
- p.Leu508= Single submitter
- p.Leu539= Single submitter
- p.Leu55= Single submitter
- p.Leu566= Single submitter
- p.Leu630= Single submitter
- p.Leu632= Single submitter
- p.Leu635= Single submitter
- p.Leu636= Single submitter
- p.Leu675= Single submitter
- p.Leu680= Single submitter
- p.Leu755= Single submitter
Uncertain significance 1041
Showing the top 300 by review status; the full set is in the sitemap.
- c.1047-2A>G Single submitter
- p.Ala1029Val Single submitter ⚠
- p.Ala1085Ser Single submitter ⚠
- p.Ala1098Pro Single submitter ⚠
- p.Ala1101Glu Single submitter ⚠
- p.Ala1101Ser Single submitter ⚠
- p.Ala1101Val Single submitter ⚠
- p.Ala1152Ser Single submitter ⚠
- p.Ala1152Val Single submitter ⚠
- p.Ala1159Gly Single submitter ⚠
- p.Ala1159Ser Single submitter ⚠
- p.Ala1174Asp Single submitter ⚠
- p.Ala1174Ser Single submitter ⚠
- p.Ala1182Ser Single submitter ⚠
- p.Ala1185Ser Single submitter ⚠
- p.Ala1185Val Single submitter ⚠
- p.Ala1211Ser Single submitter ⚠
- p.Ala1211Val Single submitter ⚠
- p.Ala1224Gly Single submitter ⚠
- p.Ala1224Val Single submitter ⚠
- p.Ala1252Glu Single submitter ⚠
- p.Ala1252Val Single submitter ⚠
- p.Ala125Pro Single submitter ⚠
- p.Ala1289Gly Single submitter ⚠
- p.Ala1289Thr Single submitter ⚠
- p.Ala1296Val Single submitter ⚠
- p.Ala1299Thr Single submitter ⚠
- p.Ala1300Val Single submitter ⚠
- p.Ala1310Thr Single submitter ⚠
- p.Ala1310Val Single submitter ⚠
- p.Ala1322Gly Single submitter ⚠
- p.Ala1322Pro Single submitter ⚠
- p.Ala1361Val Single submitter ⚠
- p.Ala1411Val Single submitter ⚠
- p.Ala1433Gly Single submitter ⚠
- p.Ala1433Val Single submitter ⚠
- p.Ala1450Asp Single submitter ⚠
- p.Ala1450Thr Single submitter ⚠
- p.Ala1455Thr Single submitter ⚠
- p.Ala1467Thr Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala167Gly Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala361Gly Single submitter ⚠
- p.Ala361Val Single submitter ⚠
- p.Ala408Val Single submitter ⚠
- p.Ala409Val Single submitter ⚠
- p.Ala411Ser Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Ala507Ser Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala533Val Single submitter ⚠
- p.Ala559Thr Single submitter ⚠
- p.Ala572Thr Single submitter ⚠
- p.Ala578Pro Single submitter ⚠
- p.Ala578Ser Single submitter ⚠
- p.Ala599Gly Single submitter ⚠
- p.Ala599Thr Single submitter ⚠
- p.Ala617Gly Single submitter ⚠
- p.Ala618Val Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala808Ser Single submitter ⚠
- p.Ala808Val Single submitter ⚠
- p.Ala876Thr Single submitter ⚠
- p.Ala938Ser Single submitter ⚠
- p.Ala992Ser Single submitter ⚠
- p.Arg100Ser Single submitter ⚠
- p.Arg1049Cys Single submitter ⚠
- p.Arg1049Leu Single submitter ⚠
- p.Arg1051Gln Single submitter ⚠
- p.Arg107Gly Single submitter ⚠
- p.Arg117Gly Single submitter ⚠
- p.Arg118Cys Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg1242Gln Single submitter ⚠
- p.Arg1242Gly Single submitter ⚠
- p.Arg1265Lys Single submitter ⚠
- p.Arg1324Lys Single submitter ⚠
- p.Arg1324Ser Single submitter ⚠
- p.Arg1331Gln Single submitter ⚠
- p.Arg1333Pro Single submitter ⚠
- p.Arg1374Gly Single submitter ⚠
- p.Arg1404Cys Single submitter ⚠
- p.Arg1404His Single submitter ⚠
- p.Arg1407Met Single submitter ⚠
- p.Arg1473Gln Single submitter ⚠
- p.Arg1473Pro Single submitter ⚠
- p.Arg1473Trp Single submitter ⚠
- p.Arg1477Gly Single submitter ⚠
- p.Arg1477Thr Single submitter ⚠
- p.Arg1481Gly Single submitter ⚠
- p.Arg153Gly Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg153Leu Single submitter ⚠
- p.Arg175Gly Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg197Gly Single submitter ⚠
- p.Arg197Leu Single submitter ⚠
- p.Arg202Gly Single submitter ⚠
- p.Arg219Ser Single submitter ⚠
- p.Arg225Gly Single submitter ⚠
- p.Arg271Ile Single submitter ⚠
- p.Arg272Ser Single submitter ⚠
- p.Arg290Trp Single submitter ⚠
- p.Arg297Lys Single submitter ⚠
- p.Arg307Gly Single submitter ⚠
- p.Arg307Lys Single submitter ⚠
- p.Arg307Ser Single submitter ⚠
- p.Arg315Gly Single submitter ⚠
- p.Arg315Ile Single submitter ⚠
- p.Arg315Lys Single submitter ⚠
- p.Arg315Thr Single submitter ⚠
- p.Arg330Ser Single submitter ⚠
- p.Arg340Pro Single submitter ⚠
- p.Arg350Gly Single submitter ⚠
- p.Arg350Lys Single submitter ⚠
- p.Arg356Gly Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Arg374Ile Single submitter ⚠
- p.Arg374Lys Single submitter ⚠
- p.Arg378His Single submitter ⚠
- p.Arg378Leu Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg37Gly Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg380His Single submitter ⚠
- p.Arg429Gly Single submitter ⚠
- p.Arg449Gly Single submitter ⚠
- p.Arg449Ser Single submitter ⚠
- p.Arg44Gly Single submitter ⚠
- p.Arg661Lys Single submitter ⚠
- p.Arg663His Single submitter ⚠
- p.Arg6Thr Single submitter ⚠
- p.Arg701Gly Single submitter ⚠
- p.Arg708Cys Single submitter ⚠
- p.Arg708His Single submitter ⚠
- p.Arg712Ile Single submitter ⚠
- p.Arg722Cys Single submitter ⚠
- p.Arg784Pro Single submitter ⚠
- p.Arg784Ter Single submitter
- p.Arg93Pro Single submitter ⚠
- p.Arg950Gln Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Arg99Gly Single submitter ⚠
- p.Asn1121Lys Single submitter ⚠
- p.Asn1139Lys Single submitter ⚠
- p.Asn1154Ser Single submitter ⚠
- p.Asn1230Ser Single submitter ⚠
- p.Asn1335Asp Single submitter ⚠
- p.Asn1335Lys Single submitter ⚠
- p.Asn1335Thr Single submitter ⚠
- p.Asn1357Tyr Single submitter ⚠
- p.Asn1373Asp Single submitter ⚠
- p.Asn1428Ser Single submitter ⚠
- p.Asn258His Single submitter ⚠
- p.Asn258Ser Single submitter ⚠
- p.Asn3Ser Single submitter ⚠
- p.Asn432Asp Single submitter ⚠
- p.Asn432His Single submitter ⚠
- p.Asn762Ser Single submitter ⚠
- p.Asn885Thr Single submitter ⚠
- p.Asn894Asp Single submitter ⚠
- p.Asn939Ser Single submitter ⚠
- p.Asn96Lys Single submitter ⚠
- p.Asn970Ser Single submitter ⚠
- p.Asp1004Glu Single submitter ⚠
- p.Asp1022Asn Single submitter ⚠
- p.Asp1038His Single submitter ⚠
- p.Asp1106Glu Single submitter ⚠
- p.Asp1128Asn Single submitter ⚠
- p.Asp1169Asn Single submitter ⚠
- p.Asp1169Tyr Single submitter ⚠
- p.Asp1169Val Single submitter ⚠
- p.Asp1233Gly Single submitter ⚠
- p.Asp12Glu Single submitter ⚠
- p.Asp1342His Single submitter ⚠
- p.Asp1352Gly Single submitter ⚠
- p.Asp1352Val Single submitter ⚠
- p.Asp1354Gly Single submitter ⚠
- p.Asp1400His Single submitter ⚠
- p.Asp145Glu Single submitter ⚠
- p.Asp160Ala Single submitter ⚠
- p.Asp160Asn Single submitter ⚠
- p.Asp229Ala Single submitter ⚠
- p.Asp234Glu Single submitter ⚠
- p.Asp234Gly Single submitter ⚠
- p.Asp235Gly Single submitter ⚠
- p.Asp247Asn Single submitter ⚠
- p.Asp260Glu Single submitter ⚠
- p.Asp416Val Single submitter ⚠
- p.Asp439Gly Single submitter ⚠
- p.Asp459Gly Single submitter ⚠
- p.Asp477His Single submitter ⚠
- p.Asp477Val Single submitter ⚠
- p.Asp484Tyr Single submitter ⚠
- p.Asp502Gly Single submitter ⚠
- p.Asp639His Single submitter ⚠
- p.Asp639Val Single submitter ⚠
- p.Asp640Asn Single submitter ⚠
- p.Asp640Gly Single submitter ⚠
- p.Asp641Tyr Single submitter ⚠
- p.Asp643Asn Single submitter ⚠
- p.Asp643Val Single submitter ⚠
- p.Asp668Glu Single submitter ⚠
- p.Asp679Ala Single submitter ⚠
- p.Asp679Glu Single submitter ⚠
- p.Asp679Val Single submitter ⚠
- p.Asp684His Single submitter ⚠
- p.Asp718Glu Single submitter ⚠
- p.Asp718Tyr Single submitter ⚠
- p.Asp75Ala Single submitter ⚠
- p.Asp75Gly Single submitter ⚠
- p.Asp761Tyr Single submitter ⚠
- p.Asp834Glu Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Asp85His Single submitter ⚠
- p.Asp995Gly Single submitter ⚠
- p.Cys1009Tyr Single submitter ⚠
- p.Cys1255Arg Single submitter ⚠
- p.Cys1255Tyr Single submitter ⚠
- p.Cys723Arg Single submitter ⚠
- p.Cys922Ser Single submitter ⚠
- p.Gln1088Lys Single submitter ⚠
- p.Gln1109Glu Single submitter ⚠
- p.Gln1133Glu Single submitter ⚠
- p.Gln1148Arg Single submitter ⚠
- p.Gln1149His Single submitter ⚠
- p.Gln115Lys Single submitter ⚠
- p.Gln1166Pro Single submitter ⚠
- p.Gln1168Arg Single submitter ⚠
- p.Gln1207Arg Single submitter ⚠
- p.Gln1216Glu Single submitter ⚠
- p.Gln1239Glu Single submitter ⚠
- p.Gln127Arg Single submitter ⚠
- p.Gln127Glu Single submitter ⚠
- p.Gln127Leu Single submitter ⚠
- p.Gln127Lys Single submitter ⚠
- p.Gln127Pro Single submitter ⚠
- p.Gln1291Arg Single submitter ⚠
- p.Gln1291Glu Single submitter ⚠
- p.Gln1307Arg Single submitter ⚠
- p.Gln1396His Single submitter ⚠
- p.Gln1418Lys Single submitter ⚠
- p.Gln1438Glu Single submitter ⚠
- p.Gln165Leu Single submitter ⚠
- p.Gln244Glu Single submitter ⚠
- p.Gln244Lys Single submitter ⚠
- p.Gln244Pro Single submitter ⚠
- p.Gln286Arg Single submitter ⚠
- p.Gln286Lys Single submitter ⚠
- p.Gln498Arg Single submitter ⚠
- p.Gln547Arg Single submitter ⚠
- p.Gln547Pro Single submitter ⚠
- p.Gln562Arg Single submitter ⚠
- p.Gln563Arg Single submitter ⚠
- p.Gln598Glu Single submitter ⚠
- p.Gln598Leu Single submitter ⚠
- p.Gln598Pro Single submitter ⚠
- p.Gln714Pro Single submitter ⚠
- p.Gln740Arg Single submitter ⚠
- p.Gln797Arg Single submitter ⚠
- p.Gln797Glu Single submitter ⚠
- p.Gln872His Single submitter ⚠
- p.Gln872Lys Single submitter ⚠
- p.Glu1012Gln Single submitter ⚠
- p.Glu1077Val Single submitter ⚠
- p.Glu1193Lys Single submitter ⚠
- p.Glu1198Gly Single submitter ⚠
- p.Glu1222Lys Single submitter ⚠
- p.Glu1268Asp Single submitter ⚠
- p.Glu129Gly Single submitter ⚠
- p.Glu1319Lys Single submitter ⚠
- p.Glu1327Asp Single submitter ⚠
- p.Glu135Asp Single submitter ⚠
- p.Glu1434Asp Single submitter ⚠
- p.Glu1434Lys Single submitter ⚠
- p.Glu1442Asp Single submitter ⚠
- p.Glu156Asp Single submitter ⚠
- p.Glu157Gln Single submitter ⚠
- p.Glu157Gly Single submitter ⚠
- p.Glu173Lys Single submitter ⚠
- p.Glu182Lys Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu205Gln Single submitter ⚠
- p.Glu281Gly Single submitter ⚠
- p.Glu34Gly Single submitter ⚠
- p.Glu431Gln Single submitter ⚠
- p.Glu431Gly Single submitter ⚠
- p.Glu443Lys Single submitter ⚠
- p.Glu454Gln Single submitter ⚠
- p.Glu461Gln Single submitter ⚠
- p.Glu461Lys Single submitter ⚠
- p.Glu471Ala Single submitter ⚠
- p.Glu471Asp Single submitter ⚠
- p.Glu471Val Single submitter ⚠
- p.Glu488Lys Single submitter ⚠
- p.Glu510Gln Single submitter ⚠
- p.Glu511Asp Single submitter ⚠