ERBIN — 973 ClinVar variants
All ClinVar germline ERBIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 525 flagged for review →
6 Conflicting · 34 Benign · 16 Benign/Likely benign · 324 Likely benign · 593 Uncertain significance
Full ERBIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 525
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 406
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 406
-
ERBIN p.Ala942Val
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Arg1096Gln Uncertain significance Multiple submitters
- ERBIN p.Arg1166Gln Uncertain significance Multiple submitters
-
ERBIN p.Asn1035Ser
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Asn650Ser Uncertain significance Multiple submitters
- ERBIN p.Asp530Tyr Uncertain significance Multiple submitters
- ERBIN p.His521Arg Uncertain significance Multiple submitters
-
ERBIN p.His587Arg
Uncertain significance
Multiple submitters
ERBIN-related disorder
-
ERBIN p.Ile318Val
Uncertain significance
Multiple submitters
ERBIN-related disorder
-
ERBIN p.Met289Ile
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Pro1153Ser Uncertain significance Multiple submitters
-
ERBIN p.Pro339Ala
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Thr962Ala Uncertain significance Multiple submitters
- ERBIN p.Tyr1381Cys Uncertain significance Multiple submitters
-
ERBIN p.Tyr920Cys
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Val531Met Uncertain significance Multiple submitters
- ERBIN p.Val627Ile Uncertain significance Multiple submitters
- ERBIN p.Val899Ile Uncertain significance Multiple submitters
- ERBIN p.Ala1003Gly Uncertain significance Single submitter
- ERBIN p.Ala1041Val Uncertain significance Single submitter
- ERBIN p.Ala1051Val Uncertain significance Single submitter
- ERBIN p.Ala1068Glu Uncertain significance Single submitter
- ERBIN p.Ala1084Thr Uncertain significance Single submitter
- ERBIN p.Ala1113Val Uncertain significance Single submitter
- ERBIN p.Ala1145Gly Uncertain significance Single submitter
- ERBIN p.Ala1206Val Uncertain significance Single submitter
- ERBIN p.Ala1268Glu Uncertain significance Single submitter
- ERBIN p.Ala1318Thr Uncertain significance Single submitter
- ERBIN p.Ala581Gly Uncertain significance Single submitter
- ERBIN p.Ala628Val Uncertain significance Single submitter
- ERBIN p.Ala86Gly Uncertain significance Single submitter
- ERBIN p.Ala86Val Uncertain significance Single submitter
- ERBIN p.Ala942Pro Uncertain significance Single submitter
- ERBIN p.Arg1037Gly Uncertain significance Single submitter
- ERBIN p.Arg1064Gln Uncertain significance Single submitter
- ERBIN p.Arg1071Gln Uncertain significance Single submitter
- ERBIN p.Arg1095Lys Uncertain significance Single submitter
- ERBIN p.Arg1096Trp Uncertain significance Single submitter
- ERBIN p.Arg1141Gly Uncertain significance Single submitter
- ERBIN p.Arg1146Gln Uncertain significance Single submitter
- ERBIN p.Arg1166Trp Uncertain significance Single submitter
- ERBIN p.Arg1172Ile Uncertain significance Single submitter
- ERBIN p.Arg1194Cys Uncertain significance Single submitter
- ERBIN p.Arg1202Gln Uncertain significance Single submitter
- ERBIN p.Arg1265Gly Uncertain significance Single submitter
- ERBIN p.Arg1265Ser Uncertain significance Single submitter
- ERBIN p.Arg1323Gln Uncertain significance Single submitter
- ERBIN p.Arg1323Leu Uncertain significance Single submitter
- ERBIN p.Arg1325Lys Uncertain significance Single submitter
- ERBIN p.Arg516Gly Uncertain significance Single submitter
- ERBIN p.Arg740Gln Uncertain significance Single submitter
- ERBIN p.Arg740Leu Uncertain significance Single submitter
- ERBIN p.Arg959Thr Uncertain significance Single submitter
- ERBIN p.Asn1027Asp Uncertain significance Single submitter
- ERBIN p.Asn1027His Uncertain significance Single submitter
- ERBIN p.Asn1029His Uncertain significance Single submitter
- ERBIN p.Asn102Thr Uncertain significance Single submitter
- ERBIN p.Asn1032His Uncertain significance Single submitter
- ERBIN p.Asn1032Ser Uncertain significance Single submitter
- ERBIN p.Asn1039Thr Uncertain significance Single submitter
- ERBIN p.Asn1087Thr Uncertain significance Single submitter
- ERBIN p.Asn1234Tyr Uncertain significance Single submitter
- ERBIN p.Asn1269Asp Uncertain significance Single submitter
- ERBIN p.Asn1345Ser Uncertain significance Single submitter
- ERBIN p.Asn146His Uncertain significance Single submitter
- ERBIN p.Asn254Lys Uncertain significance Single submitter
- ERBIN p.Asn277Ser Uncertain significance Single submitter
- ERBIN p.Asn309Ser Uncertain significance Single submitter
- ERBIN p.Asn446Ser Uncertain significance Single submitter
- ERBIN p.Asn511Ser Uncertain significance Single submitter
- ERBIN p.Asn590Ser Uncertain significance Single submitter
- ERBIN p.Asn631Ser Uncertain significance Single submitter
- ERBIN p.Asn632Lys Uncertain significance Single submitter
- ERBIN p.Asn654Ser Uncertain significance Single submitter
- ERBIN p.Asn671Ser Uncertain significance Single submitter
- ERBIN p.Asn67Thr Uncertain significance Single submitter
- ERBIN p.Asn764Lys Uncertain significance Single submitter
- ERBIN p.Asn764Ser Uncertain significance Single submitter
- ERBIN p.Asn768Ser Uncertain significance Single submitter
- ERBIN p.Asn799Ser Uncertain significance Single submitter
- ERBIN p.Asn820Lys Uncertain significance Single submitter
- ERBIN p.Asn834His Uncertain significance Single submitter
- ERBIN p.Asn890Thr Uncertain significance Single submitter
- ERBIN p.Asn956Thr Uncertain significance Single submitter
- ERBIN p.Asp1001Glu Uncertain significance Single submitter
- ERBIN p.Asp1063Asn Uncertain significance Single submitter
- ERBIN p.Asp1103Asn Uncertain significance Single submitter
- ERBIN p.Asp1135Asn Uncertain significance Single submitter
- ERBIN p.Asp1221Ala Uncertain significance Single submitter
- ERBIN p.Asp1225Gly Uncertain significance Single submitter
- ERBIN p.Asp1244Gly Uncertain significance Single submitter
- ERBIN p.Asp1351His Uncertain significance Single submitter
- ERBIN p.Asp517Gly Uncertain significance Single submitter
- ERBIN p.Asp523Gly Uncertain significance Single submitter
- ERBIN p.Asp523Val Uncertain significance Single submitter
- ERBIN p.Asp547Val Uncertain significance Single submitter
- ERBIN p.Asp54His Uncertain significance Single submitter
- ERBIN p.Asp592Asn Uncertain significance Single submitter
- ERBIN p.Asp593Glu Uncertain significance Single submitter
- ERBIN p.Asp699Glu Uncertain significance Single submitter
- ERBIN p.Asp710Gly Uncertain significance Single submitter
- ERBIN p.Asp724Tyr Uncertain significance Single submitter
- ERBIN p.Asp727Glu Uncertain significance Single submitter
- ERBIN p.Asp840Gly Uncertain significance Single submitter
- ERBIN p.Asp840His Uncertain significance Single submitter
- ERBIN p.Asp842Val Uncertain significance Single submitter
- ERBIN p.Asp855Val Uncertain significance Single submitter
- ERBIN p.Cys1309Tyr Uncertain significance Single submitter
- ERBIN p.Cys843Tyr Uncertain significance Single submitter
- ERBIN p.Gln1077Arg Uncertain significance Single submitter
- ERBIN p.Gln1098His Uncertain significance Single submitter
- ERBIN p.Gln1124Lys Uncertain significance Single submitter
- ERBIN p.Gln1215Glu Uncertain significance Single submitter
- ERBIN p.Gln1232Arg Uncertain significance Single submitter
- ERBIN p.Gln1272Leu Uncertain significance Single submitter
- ERBIN p.Gln1278Glu Uncertain significance Single submitter
- ERBIN p.Gln136Leu Uncertain significance Single submitter
- ERBIN p.Gln1399Arg Uncertain significance Single submitter
- ERBIN p.Gln172Arg Uncertain significance Single submitter
- ERBIN p.Gln231Arg Uncertain significance Single submitter
- ERBIN p.Gln267Arg Uncertain significance Single submitter
- ERBIN p.Gln320Arg Uncertain significance Single submitter
- ERBIN p.Gln320Leu Uncertain significance Single submitter
- ERBIN p.Gln336His Uncertain significance Single submitter
- ERBIN p.Gln392His Uncertain significance Single submitter
- ERBIN p.Gln418Arg Uncertain significance Single submitter
- ERBIN p.Gln707Leu Uncertain significance Single submitter
- ERBIN p.Gln831Arg Uncertain significance Single submitter
- ERBIN p.Gln831His Uncertain significance Single submitter
- ERBIN p.Gln966Arg Uncertain significance Single submitter
- ERBIN p.Gln970Glu Uncertain significance Single submitter
- ERBIN p.Gln976Arg Uncertain significance Single submitter
- ERBIN p.Gln980Arg Uncertain significance Single submitter
- ERBIN p.Gln996Arg Uncertain significance Single submitter
- ERBIN p.Glu1014Gly Uncertain significance Single submitter
- ERBIN p.Glu1362Lys Uncertain significance Single submitter
- ERBIN p.Glu22Asp Uncertain significance Single submitter
- ERBIN p.Glu247Asp Uncertain significance Single submitter
- ERBIN p.Glu253Asp Uncertain significance Single submitter
- ERBIN p.Glu358Val Uncertain significance Single submitter
- ERBIN p.Glu362Asp Uncertain significance Single submitter
- ERBIN p.Glu362Gln Uncertain significance Single submitter
- ERBIN p.Glu416Lys Uncertain significance Single submitter
- ERBIN p.Glu512Gly Uncertain significance Single submitter
- ERBIN p.Glu548Asp Uncertain significance Single submitter
- ERBIN p.Glu567Ala Uncertain significance Single submitter
- ERBIN p.Glu597Lys Uncertain significance Single submitter
- ERBIN p.Glu599Ala Uncertain significance Single submitter
- ERBIN p.Glu60Asp Uncertain significance Single submitter
- ERBIN p.Glu646Val Uncertain significance Single submitter
Predictors split 115
The independent predictors disagree with each other — read with care.
- ERBIN p.Cys658Ser Uncertain significance Multiple submitters
-
ERBIN p.Ile318Thr
Uncertain significance
Multiple submitters
ERBIN-related disorder
- ERBIN p.Met609Thr Benign Multiple submitters
- ERBIN p.Ser1382Gly Uncertain significance Multiple submitters
- ERBIN p.Trp992Cys Uncertain significance Multiple submitters
- ERBIN p.Val1192Ala Uncertain significance Multiple submitters
- ERBIN p.Ala1365Thr Uncertain significance Single submitter
- ERBIN p.Ala458Val Uncertain significance Single submitter
- ERBIN p.Arg1076Leu Uncertain significance Single submitter
- ERBIN p.Arg10Gln Uncertain significance Single submitter
- ERBIN p.Arg1125Ser Uncertain significance Single submitter
- ERBIN p.Arg1130Gly Uncertain significance Single submitter
- ERBIN p.Arg1130Leu Uncertain significance Single submitter
- ERBIN p.Arg1176Gly Uncertain significance Single submitter
- ERBIN p.Arg1287Thr Uncertain significance Single submitter
- ERBIN p.Arg15Cys Uncertain significance Single submitter
- ERBIN p.Arg15His Uncertain significance Single submitter
- ERBIN p.Arg18Gln Uncertain significance Single submitter
- ERBIN p.Arg457Gln Uncertain significance Single submitter
- ERBIN p.Arg663Gln Uncertain significance Single submitter
- ERBIN p.Arg663Trp Uncertain significance Single submitter
- ERBIN p.Asn1032Asp Uncertain significance Single submitter
- ERBIN p.Asn156Lys Uncertain significance Single submitter
- ERBIN p.Asn650Lys Uncertain significance Single submitter
- ERBIN p.Asn90Asp Uncertain significance Single submitter
- ERBIN p.Asp1195Glu Uncertain significance Single submitter
- ERBIN p.Asp147Glu Uncertain significance Single submitter
- ERBIN p.Asp147Gly Uncertain significance Single submitter
- ERBIN p.Asp414Glu Uncertain significance Single submitter
- ERBIN p.Asp54Asn Uncertain significance Single submitter
- ERBIN p.Asp666Val Uncertain significance Single submitter
- ERBIN p.Asp921Val Uncertain significance Single submitter
- ERBIN p.Asp98Asn Uncertain significance Single submitter
- ERBIN p.Cys464Arg Uncertain significance Single submitter
- ERBIN p.Glu167Asp Uncertain significance Single submitter
- ERBIN p.Glu187Lys Uncertain significance Single submitter
- ERBIN p.Glu198Lys Uncertain significance Single submitter
- ERBIN p.Glu20Lys Uncertain significance Single submitter
- ERBIN p.Glu22Lys Uncertain significance Single submitter
- ERBIN p.Glu246Lys Uncertain significance Single submitter
- ERBIN p.Glu312Gly Uncertain significance Single submitter
- ERBIN p.Glu451Lys Uncertain significance Single submitter
- ERBIN p.Glu466Lys Uncertain significance Single submitter
- ERBIN p.Glu477Val Uncertain significance Single submitter
- ERBIN p.Glu606Val Uncertain significance Single submitter
- ERBIN p.Gly1258Glu Uncertain significance Single submitter
- ERBIN p.Gly1341Arg Uncertain significance Single submitter
- ERBIN p.Gly1342Cys Uncertain significance Single submitter
- ERBIN p.Gly1344Glu Uncertain significance Single submitter
- ERBIN p.Gly1372Ala Uncertain significance Single submitter
- ERBIN p.Gly19Arg Uncertain significance Single submitter
- ERBIN p.Gly297Arg Uncertain significance Single submitter
- ERBIN p.Gly478Arg Uncertain significance Single submitter
- ERBIN p.His1203Arg Uncertain significance Single submitter
- ERBIN p.His331Arg Uncertain significance Single submitter
- ERBIN p.His353Arg Uncertain significance Single submitter
- ERBIN p.Ile1204Thr Uncertain significance Single submitter
- ERBIN p.Ile272Thr Uncertain significance Single submitter
- ERBIN p.Ile407Leu Uncertain significance Single submitter
- ERBIN p.Ile41Thr Uncertain significance Single submitter
- ERBIN p.Ile621Thr Conflicting Single submitter
- ERBIN p.Ile910Lys Uncertain significance Single submitter
- ERBIN p.Ile910Thr Uncertain significance Single submitter
- ERBIN p.Ile979Thr Uncertain significance Single submitter
- ERBIN p.Leu1290Pro Uncertain significance Single submitter
- ERBIN p.Leu1296Val Uncertain significance Single submitter
- ERBIN p.Leu1332Phe Uncertain significance Single submitter
- ERBIN p.Leu258Val Uncertain significance Single submitter
- ERBIN p.Leu298Ile Uncertain significance Single submitter
- ERBIN p.Leu304Val Likely benign Single submitter
- ERBIN p.Leu321Phe Uncertain significance Single submitter
- ERBIN p.Leu449Phe Uncertain significance Single submitter
- ERBIN p.Leu735Trp Uncertain significance Single submitter
- ERBIN p.Lys101Asn Uncertain significance Single submitter
- ERBIN p.Lys115Glu Uncertain significance Single submitter
- ERBIN p.Lys1171Glu Uncertain significance Single submitter
- ERBIN p.Lys1396Thr Uncertain significance Single submitter
- ERBIN p.Lys625Glu Uncertain significance Single submitter
- ERBIN p.Lys633Asn Uncertain significance Single submitter
- ERBIN p.Met1157Ile Uncertain significance Single submitter
- ERBIN p.Met396Val Uncertain significance Single submitter
- ERBIN p.Met609Arg Uncertain significance Single submitter
- ERBIN p.Met664Thr Uncertain significance Single submitter
- ERBIN p.Phe107Leu Uncertain significance Single submitter
- ERBIN p.Phe134Leu Uncertain significance Single submitter
- ERBIN p.Phe1398Ser Uncertain significance Single submitter
- ERBIN p.Phe157Leu Uncertain significance Single submitter
- ERBIN p.Phe212Leu Uncertain significance Single submitter
- ERBIN p.Phe445Ser Uncertain significance Single submitter
- ERBIN p.Phe44Ser Uncertain significance Single submitter
- ERBIN p.Pro1126Thr Uncertain significance Single submitter
- ERBIN p.Pro1193Leu Uncertain significance Single submitter
-
ERBIN p.Pro1285Ala
Uncertain significance
Single submitter
ERBIN-related disorder
- ERBIN p.Pro1330Leu Uncertain significance Single submitter
- ERBIN p.Pro1346Gln Uncertain significance Single submitter
- ERBIN p.Pro13Ser Uncertain significance Single submitter
- ERBIN p.Pro488Ser Uncertain significance Single submitter
- ERBIN p.Pro624Arg Uncertain significance Single submitter
- ERBIN p.Ser1144Asn Uncertain significance Single submitter
- ERBIN p.Ser1190Arg Uncertain significance Single submitter
- ERBIN p.Ser294Cys Uncertain significance Single submitter
- ERBIN p.Ser354Phe Uncertain significance Single submitter
- ERBIN p.Ser870Tyr Uncertain significance Single submitter
- ERBIN p.Thr197Met Uncertain significance Single submitter
- ERBIN p.Thr280Lys Uncertain significance Single submitter
- ERBIN p.Trp1057Arg Uncertain significance Single submitter
- ERBIN p.Tyr1107Cys Likely benign Single submitter
- ERBIN p.Tyr1293His Uncertain significance Single submitter
- ERBIN p.Tyr52Cys Uncertain significance Single submitter
- ERBIN p.Tyr52Ser Uncertain significance Single submitter
- ERBIN p.Val12Ala Uncertain significance Single submitter
- ERBIN p.Val349Met Uncertain significance Single submitter
- ERBIN p.Val502Leu Uncertain significance Single submitter
- ERBIN p.Val911Gly Uncertain significance Single submitter
-
ERBIN p.Asn446Lys
Uncertain significance
No assertion criteria
ERBIN-related disorder
All ERBIN variants
Conflicting classifications of pathogenicity 6
- p.Asn1163Ser Single submitter ⚠
- p.Gln831Pro Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile621Thr Single submitter ⚠
- p.Thr1216Ile Single submitter ⚠
- p.Val120= Single submitter ERBIN-related disorder
Benign 34
- c.1903+14G>A Multiple submitters
- c.1904-12G>A Multiple submitters
- c.4131+27dup Multiple submitters
- p.Arg1076= Multiple submitters
- p.Gln966= Multiple submitters
- p.Gly1089Val Multiple submitters
- p.Ile119Val Multiple submitters
- p.Leu1105= Multiple submitters
- p.Leu189= Multiple submitters
- p.Lys746Glu Multiple submitters
- p.Lys914Arg Multiple submitters
- p.Met609Thr Multiple submitters ⚠
- p.Pro952= Multiple submitters
- p.Ser1112Leu Multiple submitters
- p.Ser274Leu Multiple submitters
- p.Thr322Ile Multiple submitters
- c.1137-8dup Single submitter
- c.1306+6A>G Single submitter
- c.189+56A>G Single submitter
- c.308-5del Single submitter
- c.386+100C>G Single submitter
- c.4057-11del Single submitter
- c.4057-11dup Single submitter
- c.4131+26_4131+27dup Single submitter
- c.477-10del Single submitter
- c.597+119A>T Single submitter
- c.597+125T>C Single submitter
- c.673-10_673-9dup Single submitter
- c.673-9dup Single submitter
- c.891-10del Single submitter
- c.891-10dup Single submitter
- p.Asn1087Ser Single submitter
- p.Leu1009= Single submitter
- p.Val1359= Single submitter
Benign/Likely benign 16
- c.1137-15A>G Multiple submitters
- c.190-18C>A Multiple submitters
- c.4131+15T>C Multiple submitters
- c.4131+27del Multiple submitters
- c.4132-9C>T Multiple submitters
- c.477-10dup Multiple submitters
- p.Asp906= Multiple submitters
- p.Glu817= Multiple submitters
- p.His1045Tyr Multiple submitters
- p.Leu1368= Multiple submitters
- p.Leu370= Multiple submitters
- p.Pro1091Ser Multiple submitters
- p.Pro615= Multiple submitters
- p.Pro998= Multiple submitters
- p.Ser274= Multiple submitters
- p.Tyr333= Multiple submitters
Likely benign 324
Showing the top 300 by review status; the full set is in the sitemap.
- c.1020+8A>G Multiple submitters
- c.1137-5T>C Multiple submitters
- c.1306+14A>G Multiple submitters
- c.1788+11A>G Multiple submitters
- c.3634-3271A>T Multiple submitters
- p.Ala1041= Multiple submitters
- p.Arg912= Multiple submitters
- p.His806Arg Multiple submitters
- p.Ile88Val Multiple submitters
- p.Leu1127= Multiple submitters
- p.Leu770= Multiple submitters
- p.Phe8= Multiple submitters
- p.Pro292= Multiple submitters
- p.Ser354= Multiple submitters
- p.Val911= Multiple submitters
- c.1020+14G>A Single submitter
- c.1020+17T>G Single submitter
- c.1020+18T>G Single submitter
- c.1021-7_1021-6del Single submitter
- c.1136+12T>C Single submitter
- c.1136+13A>C Single submitter
- c.1136+13A>G Single submitter
- c.1137-4A>G Single submitter
- c.1137-6del Single submitter
- c.1137-7C>T Single submitter
- c.1206+18A>G Single submitter
- c.1207-10C>T Single submitter
- c.1207-15A>G Single submitter
- c.1207-18T>G Single submitter
- c.1207-5T>C Single submitter
- c.1207-9C>T Single submitter
- c.1306+17C>G Single submitter
- c.1306+17C>T Single submitter
- c.1306+20T>C Single submitter
- c.1307-12A>G Single submitter
- c.1307-4C>T Single submitter
- c.1428+15_1428+18del Single submitter
- c.1428+15dup Single submitter
- c.1428+16A>G Single submitter
- c.1428+16dup Single submitter
- c.1428+17_1428+23del Single submitter
- c.1429-13T>A Single submitter
- c.1429-14T>C Single submitter
- c.1429-19A>G Single submitter
- c.1429-8T>C Single submitter
- c.1429-9T>C Single submitter
- c.1603-11C>G Single submitter
- c.1603-13T>G Single submitter
- c.1603-16C>A Single submitter
- c.1788+14A>G Single submitter
- c.1788+20C>G Single submitter
- c.1789-11C>T Single submitter
- c.1789-18T>C Single submitter
- c.1789-7T>C Single submitter
- c.189+10T>C Single submitter
- c.189+12C>G Single submitter
- c.189+18T>G Single submitter
- c.190-12T>C Single submitter
- c.190-7T>G Single submitter
- c.1903+16A>G Single submitter
- c.1904-10T>G Single submitter
- c.1904-18A>G Single submitter
- c.2087+10C>A Single submitter
- c.2087+16T>A Single submitter
- c.2087+20A>G Single submitter
- c.2088-12T>C Single submitter
- c.2088-13A>G Single submitter
- c.2088-4T>G Single submitter
- c.307+10T>C Single submitter
- c.307+13T>C Single submitter
- c.307+14T>A Single submitter
- c.307+19A>G Single submitter
- c.307+9T>G Single submitter
- c.308-13G>T Single submitter
- c.308-14T>C Single submitter
- c.308-16G>A Single submitter
- c.308-17C>G Single submitter
- c.308-17C>T Single submitter
- c.308-19A>G Single submitter
- c.3633+10_3633+13dup Single submitter
- c.3633+11A>C Single submitter
- c.3633+16T>C Single submitter
- c.3633+18T>C Single submitter
- c.3633+7_3633+19del Single submitter
- c.3633+7G>A Single submitter
- c.3634-14T>C Single submitter
- c.3634-19_3634-13del Single submitter
- c.3756+10C>T Single submitter
- c.3756+11G>A Single submitter
- c.3756+19A>G Single submitter
- c.3756+20A>G Single submitter
- c.3756+8C>T Single submitter
- c.3757-11G>A Single submitter
- c.3757-14C>G Single submitter
- c.3757-17C>T Single submitter
- c.3757-19T>C Single submitter
- c.386+11A>T Single submitter
- c.387-13G>T Single submitter
- c.387-5T>C Single submitter
- c.3963+12C>A Single submitter
- c.3963+16A>T Single submitter
- c.3963+18T>G Single submitter
- c.3963+19A>G Single submitter
- c.3964-6A>C Single submitter
- c.4056+17T>C Single submitter
- c.4056+18A>G Single submitter
- c.4056+19T>C Single submitter
- c.4057-19A>T Single submitter
- c.4057-4A>G Single submitter
- c.4057-5T>C Single submitter
- c.4057-7G>A Single submitter
- c.4131+12A>G Single submitter
- c.4131+16_4131+19del Single submitter
- c.4131+16C>T Single submitter
- c.4131+25_4131+27dup Single submitter
- c.4132-17C>G Single submitter
- c.4132-18G>A Single submitter
- c.4132-18G>T Single submitter
- c.4132-4C>T Single submitter
- c.4132-9C>G Single submitter
- c.477-11T>C Single submitter
- c.477-15T>G Single submitter
- c.477-19T>C Single submitter
- c.477-8T>G Single submitter
- c.477-9G>A Single submitter
- c.533+11G>A Single submitter
- c.533+19_533+21del Single submitter
- c.533+20T>C Single submitter
- c.534-11A>G Single submitter
- c.534-19A>G Single submitter
- c.597+10C>T Single submitter
- c.597+13C>G Single submitter
- c.597+17C>T Single submitter
- c.597+18T>A Single submitter
- c.598-14C>T Single submitter
- c.598-16A>T Single submitter
- c.598-19C>T Single submitter
- c.598-20C>G Single submitter
- c.598-8C>T Single submitter
- c.672+12A>G Single submitter
- c.672+19A>T Single submitter
- c.672+9A>G Single submitter
- c.673-12T>C Single submitter
- c.673-5T>C Single submitter
- c.818-15_818-14del Single submitter
- c.891-18T>G Single submitter
- p.Ala1026= Single submitter
- p.Ala1113= Single submitter
- p.Ala1145= Single submitter
- p.Ala1365= Single submitter
- p.Ala1378= Single submitter
- p.Ala1391= Single submitter
- p.Ala566= Single submitter
- p.Ala577= Single submitter
- p.Ala581= Single submitter
- p.Ala610= Single submitter
- p.Ala628= Single submitter
- p.Arg10= Single submitter
- p.Arg1047= Single submitter
- p.Arg1155= Single submitter
- p.Arg1176= Single submitter
- p.Arg1283= Single submitter
- p.Arg18= Single submitter
- p.Arg454= Single submitter
- p.Arg457= Single submitter
- p.Arg476= Single submitter
- p.Arg663= Single submitter
- p.Arg740= Single submitter
- p.Asn1034= Single submitter
- p.Asn1035= Single submitter
- p.Asn1062= Single submitter
- p.Asn110= Single submitter
- p.Asn113= Single submitter
- p.Asn1257= Single submitter
- p.Asn171= Single submitter
- p.Asn181= Single submitter
- p.Asn181Ser Single submitter
- p.Asn194= Single submitter
- p.Asn217= Single submitter
- p.Asn277Thr Single submitter
- p.Asn309= Single submitter
- p.Asn703= Single submitter
- p.Asn823= Single submitter
- p.Asp330= Single submitter
- p.Asp414= Single submitter
- p.Asp54= Single submitter
- p.Asp592= Single submitter
- p.Asp635= Single submitter
- p.Asp699= Single submitter
- p.Asp749= Single submitter
- p.Asp846= Single submitter
- p.Asp947= Single submitter
- p.Cys114= Single submitter
- p.Cys843= Single submitter
- p.Gln1124= Single submitter
- p.Gln1199= Single submitter
- p.Gln1306= Single submitter
- p.Gln1360= Single submitter
- p.Gln185= Single submitter
- p.Gln256= Single submitter
- p.Gln267= Single submitter
- p.Gln392= Single submitter
- p.Gln456= Single submitter
- p.Gln777= Single submitter
- p.Gln922= Single submitter
- p.Glu1055= Single submitter
- p.Glu187= Single submitter
- p.Glu246= Single submitter
- p.Glu303= Single submitter
- p.Glu362= Single submitter
- p.Glu597= Single submitter
- p.Glu611= Single submitter
- p.Glu646= Single submitter
- p.Glu700= Single submitter
- p.Glu732= Single submitter
- p.Glu827= Single submitter
- p.Glu96= Single submitter
- p.Gly1102= Single submitter
- p.Gly1178= Single submitter
- p.Gly1261= Single submitter
- p.Gly1338= Single submitter
- p.Gly1389= Single submitter
- p.Gly227= Single submitter
- p.Gly555= Single submitter
- p.Gly571= Single submitter
- p.Gly848= Single submitter
- p.Gly891= Single submitter
- p.His1111= Single submitter
- p.His1242= Single submitter
- p.His1300= Single submitter
- p.Ile1066Thr Single submitter
- p.Ile1227= Single submitter
- p.Ile1406= Single submitter
- p.Ile283= Single submitter
- p.Ile295= Single submitter
- p.Leu11= Single submitter
- p.Leu1255= Single submitter
- p.Leu1264= Single submitter
- p.Leu130= Single submitter
- p.Leu143= Single submitter
- p.Leu166= Single submitter
- p.Leu17= Single submitter
- p.Leu176= Single submitter
- p.Leu219= Single submitter
- p.Leu259= Single submitter
- p.Leu291= Single submitter
- p.Leu304Val Single submitter ⚠
- p.Leu350= Single submitter
- p.Leu352= Single submitter
- p.Leu573= Single submitter
- p.Leu629= Single submitter
- p.Leu991= Single submitter
- p.Lys345= Single submitter
- p.Lys411= Single submitter
- p.Lys492= Single submitter
- p.Phe107= Single submitter
- p.Phe1162= Single submitter
- p.Phe1355= Single submitter
- p.Phe152= Single submitter
- p.Phe327= Single submitter
- p.Phe387= Single submitter
- p.Phe42= Single submitter
- p.Pro1147= Single submitter
- p.Pro1214= Single submitter
- p.Pro1276= Single submitter
- p.Pro13= Single submitter
- p.Pro1303= Single submitter
- p.Pro1371= Single submitter
- p.Pro223= Single submitter
- p.Pro38= Single submitter
- p.Pro484= Single submitter
- p.Pro564= Single submitter
- p.Pro574= Single submitter
- p.Pro683= Single submitter
- p.Pro77= Single submitter
- p.Pro85= Single submitter
- p.Pro923= Single submitter
- p.Pro961= Single submitter
- p.Ser1031= Single submitter
- p.Ser1078= Single submitter
- p.Ser1236= Single submitter
- p.Ser1411= Single submitter
- p.Ser250= Single submitter
- p.Ser261= Single submitter
- p.Ser300= Single submitter
- p.Ser316= Single submitter
- p.Ser317= Single submitter
- p.Ser403= Single submitter
- p.Ser415= Single submitter
- p.Ser448= Single submitter
- p.Ser660= Single submitter
- p.Ser784= Single submitter
- p.Ser818= Single submitter
- p.Ser826= Single submitter
- p.Ser850= Single submitter
- p.Ser87= Single submitter
- p.Thr1040= Single submitter
- p.Thr197= Single submitter
- p.Thr233= Single submitter
- p.Thr271= Single submitter
Uncertain significance 593
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala942Val Multiple submitters ERBIN-related disorder ⚠
- p.Arg1076Gln Multiple submitters
- p.Arg1096Gln Multiple submitters ⚠
- p.Arg1166Gln Multiple submitters ⚠
- p.Asn1035Ser Multiple submitters ERBIN-related disorder ⚠
- p.Asn650Ser Multiple submitters ⚠
- p.Asp530Tyr Multiple submitters ⚠
- p.Cys658Ser Multiple submitters ⚠
- p.His521Arg Multiple submitters ⚠
- p.His587Arg Multiple submitters ERBIN-related disorder ⚠
- p.Ile318Thr Multiple submitters ERBIN-related disorder ⚠
- p.Ile318Val Multiple submitters ERBIN-related disorder ⚠
- p.Met289Ile Multiple submitters ERBIN-related disorder ⚠
- p.Pro1153Ser Multiple submitters ⚠
- p.Pro339Ala Multiple submitters ERBIN-related disorder ⚠
- p.Ser1382Gly Multiple submitters ⚠
- p.Thr962Ala Multiple submitters ⚠
- p.Trp992Cys Multiple submitters ⚠
- p.Tyr1381Cys Multiple submitters ⚠
- p.Tyr920Cys Multiple submitters ERBIN-related disorder ⚠
- p.Val1192Ala Multiple submitters ⚠
- p.Val531Met Multiple submitters ⚠
- p.Val627Ile Multiple submitters ⚠
- p.Val899Ile Multiple submitters ⚠
- c.1021-3C>T Single submitter
- c.1021-3del Single submitter
- c.1136+4C>T Single submitter
- c.1307-7_1307-3del Single submitter
- c.1309_1313del5 Single submitter ERBIN-related disorder
- c.190-3T>C Single submitter
- c.1903+6A>C Single submitter
- c.2087+3G>A Single submitter
- c.2088-1G>C Single submitter
- c.308-17C>A Single submitter
- c.308-3T>C Single submitter
- c.3634-3256A>G Single submitter ERBIN-related disorder
- c.3634-3256A>T Single submitter ERBIN-related disorder
- c.3634-3T>C Single submitter
- c.3756+5G>A Single submitter
- c.3963+4A>G Single submitter
- c.4056+3A>G Single submitter
- c.4131+6T>C Single submitter
- c.476+5A>G Single submitter
- c.534-4A>G Single submitter
- c.597+4A>G Single submitter
- c.598-3C>T Single submitter
- c.672+7A>G Single submitter
- c.673-3T>C Single submitter
- p.Ala1003Gly Single submitter ⚠
- p.Ala1041Val Single submitter ⚠
- p.Ala1051Val Single submitter ⚠
- p.Ala1068Glu Single submitter ⚠
- p.Ala1084Thr Single submitter ⚠
- p.Ala1113Val Single submitter ⚠
- p.Ala1145Gly Single submitter ⚠
- p.Ala1206Val Single submitter ⚠
- p.Ala1268Glu Single submitter ⚠
- p.Ala1318Thr Single submitter ⚠
- p.Ala1365Thr Single submitter ⚠
- p.Ala458Val Single submitter ⚠
- p.Ala581Gly Single submitter ⚠
- p.Ala628Val Single submitter ⚠
- p.Ala754fs Single submitter
- p.Ala86Gly Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Ala942Pro Single submitter ⚠
- p.Arg1037Gly Single submitter ⚠
- p.Arg1064Gln Single submitter ⚠
- p.Arg1071Gln Single submitter ⚠
- p.Arg1076Leu Single submitter ⚠
- p.Arg1095Lys Single submitter ⚠
- p.Arg1096Trp Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg1125Ser Single submitter ⚠
- p.Arg1130Gln Single submitter
- p.Arg1130Gly Single submitter ⚠
- p.Arg1130Leu Single submitter ⚠
- p.Arg1141Gly Single submitter ⚠
- p.Arg1146Gln Single submitter ⚠
- p.Arg1166Trp Single submitter ⚠
- p.Arg1172Ile Single submitter ⚠
- p.Arg1176Gly Single submitter ⚠
- p.Arg1194Cys Single submitter ⚠
- p.Arg1202Gln Single submitter ⚠
- p.Arg1265Gly Single submitter ⚠
- p.Arg1265Ser Single submitter ⚠
- p.Arg1287Thr Single submitter ⚠
- p.Arg1323Gln Single submitter ⚠
- p.Arg1323Leu Single submitter ⚠
- p.Arg1323Ter Single submitter
- p.Arg1325Lys Single submitter ⚠
- p.Arg1408Gln Single submitter
- p.Arg159= Single submitter
- p.Arg15Cys Single submitter ⚠
- p.Arg15His Single submitter ⚠
- p.Arg18Gln Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg516Gly Single submitter ⚠
- p.Arg663Gln Single submitter ⚠
- p.Arg663Trp Single submitter ⚠
- p.Arg740Gln Single submitter ⚠
- p.Arg740Leu Single submitter ⚠
- p.Arg959Thr Single submitter ⚠
- p.Arg95Met Single submitter
- p.Asn1027Asp Single submitter ⚠
- p.Asn1027His Single submitter ⚠
- p.Asn1029His Single submitter ⚠
- p.Asn102Thr Single submitter ⚠
- p.Asn1032Asp Single submitter ⚠
- p.Asn1032His Single submitter ⚠
- p.Asn1032Ser Single submitter ⚠
- p.Asn1039Thr Single submitter ⚠
- p.Asn1087Thr Single submitter ⚠
- p.Asn1234Tyr Single submitter ⚠
- p.Asn1269Asp Single submitter ⚠
- p.Asn1345Ser Single submitter ⚠
- p.Asn146His Single submitter ⚠
- p.Asn156Lys Single submitter ⚠
- p.Asn254Lys Single submitter ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asn309Ser Single submitter ⚠
- p.Asn446Ser Single submitter ⚠
- p.Asn511Ser Single submitter ⚠
- p.Asn590Ser Single submitter ⚠
- p.Asn631Ser Single submitter ⚠
- p.Asn632del Single submitter
- p.Asn632Lys Single submitter ⚠
- p.Asn650Lys Single submitter ⚠
- p.Asn654Ser Single submitter ⚠
- p.Asn671Ser Single submitter ⚠
- p.Asn67Thr Single submitter ⚠
- p.Asn764Lys Single submitter ⚠
- p.Asn764Ser Single submitter ⚠
- p.Asn768Ser Single submitter ⚠
- p.Asn799Ser Single submitter ⚠
- p.Asn820Lys Single submitter ⚠
- p.Asn834His Single submitter ⚠
- p.Asn890Thr Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asn956Thr Single submitter ⚠
- p.Asp1001Glu Single submitter ⚠
- p.Asp1063Asn Single submitter ⚠
- p.Asp1103Asn Single submitter ⚠
- p.Asp1135Asn Single submitter ⚠
- p.Asp1195Glu Single submitter ⚠
- p.Asp1221Ala Single submitter ⚠
- p.Asp1225Gly Single submitter ⚠
- p.Asp1244Gly Single submitter ⚠
- p.Asp1292fs Single submitter
- p.Asp1351His Single submitter ⚠
- p.Asp147Glu Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp366Tyr Single submitter
- p.Asp414Glu Single submitter ⚠
- p.Asp435= Single submitter
- p.Asp517Gly Single submitter ⚠
- p.Asp523Gly Single submitter ⚠
- p.Asp523Val Single submitter ⚠
- p.Asp547Val Single submitter ⚠
- p.Asp54Asn Single submitter ⚠
- p.Asp54His Single submitter ⚠
- p.Asp592Asn Single submitter ⚠
- p.Asp593Glu Single submitter ⚠
- p.Asp635fs Single submitter
- p.Asp641His Single submitter
- p.Asp666Val Single submitter ⚠
- p.Asp673Gly Single submitter
- p.Asp699Glu Single submitter ⚠
- p.Asp710Gly Single submitter ⚠
- p.Asp724Tyr Single submitter ⚠
- p.Asp727Glu Single submitter ⚠
- p.Asp755fs Single submitter
- p.Asp840Gly Single submitter ⚠
- p.Asp840His Single submitter ⚠
- p.Asp842Val Single submitter ⚠
- p.Asp855Val Single submitter ⚠
- p.Asp921Val Single submitter ⚠
- p.Asp98Asn Single submitter ⚠
- p.Cys1309Tyr Single submitter ⚠
- p.Cys464Arg Single submitter ⚠
- p.Cys843Tyr Single submitter ⚠
- p.Gln1077Arg Single submitter ⚠
- p.Gln1098His Single submitter ⚠
- p.Gln1124Lys Single submitter ⚠
- p.Gln1215Glu Single submitter ⚠
- p.Gln1224Ter Single submitter
- p.Gln1232Arg Single submitter ⚠
- p.Gln1272Leu Single submitter ⚠
- p.Gln1278Glu Single submitter ⚠
- p.Gln1320fs Single submitter
- p.Gln136Leu Single submitter ⚠
- p.Gln1399Arg Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gln231Arg Single submitter ⚠
- p.Gln267Arg Single submitter ⚠
- p.Gln320Arg Single submitter ⚠
- p.Gln320Leu Single submitter ⚠
- p.Gln335fs Single submitter
- p.Gln336His Single submitter ⚠
- p.Gln392His Single submitter ⚠
- p.Gln418Arg Single submitter ⚠
- p.Gln64= Single submitter
- p.Gln69Arg Single submitter
- p.Gln707Leu Single submitter ⚠
- p.Gln831Arg Single submitter ⚠
- p.Gln831His Single submitter ⚠
- p.Gln831Ter Single submitter
- p.Gln966Arg Single submitter ⚠
- p.Gln970Glu Single submitter ⚠
- p.Gln976Arg Single submitter ⚠
- p.Gln980Arg Single submitter ⚠
- p.Gln996Arg Single submitter ⚠
- p.Glu1014Gly Single submitter ⚠
- p.Glu1362Lys Single submitter ⚠
- p.Glu167Asp Single submitter ⚠
- p.Glu187Lys Single submitter ⚠
- p.Glu198Lys Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu22Asp Single submitter ⚠
- p.Glu22Lys Single submitter ⚠
- p.Glu246Lys Single submitter ⚠
- p.Glu247Asp Single submitter ⚠
- p.Glu253Asp Single submitter ⚠
- p.Glu312Gly Single submitter ⚠
- p.Glu358Val Single submitter ⚠
- p.Glu362Asp Single submitter ⚠
- p.Glu362Gln Single submitter ⚠
- p.Glu416Lys Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu466Lys Single submitter ⚠
- p.Glu477Val Single submitter ⚠
- p.Glu512Gly Single submitter ⚠
- p.Glu548Asp Single submitter ⚠
- p.Glu567Ala Single submitter ⚠
- p.Glu597Lys Single submitter ⚠
- p.Glu599Ala Single submitter ⚠
- p.Glu606Val Single submitter ⚠
- p.Glu60Asp Single submitter ⚠
- p.Glu646Val Single submitter ⚠
- p.Glu718Gln Single submitter ⚠
- p.Glu779Ala Single submitter ⚠
- p.Glu779Gln Single submitter ⚠
- p.Glu782Gln Single submitter ⚠
- p.Glu802Val Single submitter ⚠
- p.Glu827Ala Single submitter ⚠
- p.Glu953Ala Single submitter ⚠
- p.Glu953Lys Single submitter ⚠
- p.Glu953Ter Single submitter
- p.Glu96Lys Single submitter ⚠
- p.Gly1049Asp Single submitter ⚠
- p.Gly1089Cys Single submitter ⚠
- p.Gly1102Arg Single submitter ⚠
- p.Gly1188Glu Single submitter ⚠
- p.Gly1226Asp Single submitter ⚠
- p.Gly1258Glu Single submitter ⚠
- p.Gly1338Asp Single submitter ⚠
- p.Gly1338Val Single submitter ⚠
- p.Gly1341Arg Single submitter ⚠
- p.Gly1342Cys Single submitter ⚠
- p.Gly1344Glu Single submitter ⚠
- p.Gly1353Asp Single submitter ⚠
- p.Gly1372Ala Single submitter ⚠
- p.Gly1389Ala Single submitter ⚠
- p.Gly1389Val Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly208= Single submitter
- p.Gly297= Single submitter
- p.Gly297Arg Single submitter ⚠
- p.Gly478Arg Single submitter ⚠
- p.Gly515Glu Single submitter ⚠
- p.Gly532Cys Single submitter ⚠
- p.Gly532Val Single submitter ⚠
- p.Gly571Glu Single submitter ⚠
- p.Gly792Ala Single submitter ⚠
- p.Gly810Val Single submitter ⚠
- p.Gly880Arg Single submitter ⚠
- p.Gly880Glu Single submitter ⚠
- p.Gly960Cys Single submitter ⚠
- p.Gly973Asp Single submitter ⚠
- p.His1002Arg Single submitter ⚠
- p.His1053Arg Single submitter ⚠
- p.His1203Arg Single submitter ⚠
- p.His1213Tyr Single submitter ⚠
- p.His1274Arg Single submitter ⚠
- p.His1300Pro Single submitter ⚠
- p.His1308Arg Single submitter ⚠
- p.His1308Gln Single submitter ⚠
- p.His331Arg Single submitter ⚠
- p.His353Arg Single submitter ⚠
- p.His503Leu Single submitter ⚠
- p.His521Tyr Single submitter ⚠
- p.His591Arg Single submitter ⚠
- p.His688Arg Single submitter ⚠
- p.His72Gln Single submitter ⚠
- p.His806Pro Single submitter ⚠
- p.His825Tyr Single submitter ⚠
- p.His839Pro Single submitter ⚠
- p.His839Tyr Single submitter ⚠
- p.His871Asp Single submitter ⚠
- p.Ile1000Val Single submitter ⚠