DISP1 — 484 ClinVar variants
All ClinVar germline DISP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 314 flagged for review →
2 Pathogenic · 6 Likely pathogenic · 11 Conflicting · 39 Benign · 5 Benign/Likely benign · 97 Likely benign · 324 Uncertain significance
Full DISP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 314
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.
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- DISP1 p.Asp1179Ala Conflicting Single submitter
- DISP1 p.Glu592Lys Conflicting Single submitter
- DISP1 p.Gly1311Ser Conflicting Single submitter
- DISP1 p.Ile1006Val Conflicting Single submitter
-
DISP1 p.Pro189Leu
Conflicting
Single submitter
microform holoprosencephaly
- DISP1 p.Ser1303Gly Conflicting Single submitter
- DISP1 p.Thr92Ser Conflicting Single submitter
Predictors lean, ClinVar uncertain 217
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 217
- DISP1 p.Ala1204Thr Uncertain significance Multiple submitters
-
DISP1 p.Ala248Val
Uncertain significance
Multiple submitters
holoprosencephaly
- DISP1 p.Asp1067Asn Uncertain significance Multiple submitters
- DISP1 p.Asp187Asn Uncertain significance Multiple submitters
- DISP1 p.Gln602Lys Uncertain significance Multiple submitters
- DISP1 p.Gln689Arg Uncertain significance Multiple submitters
- DISP1 p.Glu1218Gln Uncertain significance Multiple submitters
- DISP1 p.Glu1323Lys Uncertain significance Multiple submitters
- DISP1 p.Gly902Glu Uncertain significance Multiple submitters
- DISP1 p.His1263Pro Uncertain significance Multiple submitters
- DISP1 p.His1331Pro Uncertain significance Multiple submitters
- DISP1 p.His94Arg Uncertain significance Multiple submitters
- DISP1 p.Leu1280Met Uncertain significance Multiple submitters
- DISP1 p.Met117Val Uncertain significance Multiple submitters
- DISP1 p.Met3Val Uncertain significance Multiple submitters
- DISP1 p.Pro1230Ser Uncertain significance Multiple submitters
-
DISP1 p.Pro1352Ser
Uncertain significance
Multiple submitters
holoprosencephaly 10
- DISP1 p.Ser114Leu Uncertain significance Multiple submitters
- DISP1 p.Ser1398Asn Uncertain significance Multiple submitters
- DISP1 p.Ser612Arg Uncertain significance Multiple submitters
- DISP1 p.Tyr974Cys Uncertain significance Multiple submitters
- DISP1 p.Val1046Ile Uncertain significance Multiple submitters
- DISP1 p.Val1312Met Uncertain significance Multiple submitters
- DISP1 p.Val968Phe Uncertain significance Multiple submitters
- DISP1 p.Ala1053Pro Uncertain significance Single submitter
- DISP1 p.Ala1082Val Uncertain significance Single submitter
- DISP1 p.Ala1087Pro Uncertain significance Single submitter
- DISP1 p.Ala108Thr Uncertain significance Single submitter
- DISP1 p.Ala1123Thr Uncertain significance Single submitter
- DISP1 p.Ala1175Ser Uncertain significance Single submitter
- DISP1 p.Ala1234Gly Uncertain significance Single submitter
- DISP1 p.Ala1321Thr Uncertain significance Single submitter
- DISP1 p.Ala1365Thr Uncertain significance Single submitter
- DISP1 p.Ala182Ser Uncertain significance Single submitter
- DISP1 p.Ala19Val Uncertain significance Single submitter
- DISP1 p.Ala359Thr Uncertain significance Single submitter
- DISP1 p.Ala36Val Uncertain significance Single submitter
- DISP1 p.Ala534Glu Uncertain significance Single submitter
- DISP1 p.Ala604Thr Uncertain significance Single submitter
- DISP1 p.Ala654Glu Uncertain significance Single submitter
- DISP1 p.Ala733Thr Uncertain significance Single submitter
- DISP1 p.Ala819Asp Uncertain significance Single submitter
- DISP1 p.Ala822Thr Uncertain significance Single submitter
- DISP1 p.Arg1078His Uncertain significance Single submitter
- DISP1 p.Arg1397Gly Uncertain significance Single submitter
- DISP1 p.Arg269Gly Uncertain significance Single submitter
-
DISP1 p.Arg331Thr
Uncertain significance
Single submitter
DISP1-related Holoprosencephaly
- DISP1 p.Arg373Gln Uncertain significance Single submitter
- DISP1 p.Arg373Gly Uncertain significance Single submitter
- DISP1 p.Arg416His Uncertain significance Single submitter
- DISP1 p.Arg661Pro Uncertain significance Single submitter
- DISP1 p.Arg703Gln Uncertain significance Single submitter
- DISP1 p.Asn1174Ser Uncertain significance Single submitter
- DISP1 p.Asn1354His Uncertain significance Single submitter
- DISP1 p.Asn1451Thr Uncertain significance Single submitter
- DISP1 p.Asn1478Asp Uncertain significance Single submitter
- DISP1 p.Asn1492His Uncertain significance Single submitter
- DISP1 p.Asn324Asp Uncertain significance Single submitter
- DISP1 p.Asn413Ser Uncertain significance Single submitter
- DISP1 p.Asn665Ser Uncertain significance Single submitter
- DISP1 p.Asn71Lys Uncertain significance Single submitter
- DISP1 p.Asn8Ser Uncertain significance Single submitter
- DISP1 p.Asp1065Gly Uncertain significance Single submitter
- DISP1 p.Asp1246Glu Uncertain significance Single submitter
- DISP1 p.Asp1246Gly Uncertain significance Single submitter
- DISP1 p.Asp1275Ala Uncertain significance Single submitter
- DISP1 p.Asp1292Asn Uncertain significance Single submitter
- DISP1 p.Asp1408Glu Uncertain significance Single submitter
- DISP1 p.Asp155Asn Uncertain significance Single submitter
- DISP1 p.Asp272Gly Uncertain significance Single submitter
- DISP1 p.Asp273Asn Uncertain significance Single submitter
- DISP1 p.Asp572Gly Uncertain significance Single submitter
-
DISP1 p.Asp587His
Uncertain significance
Single submitter
DISP1-related disorder
- DISP1 p.Asp797Gly Uncertain significance Single submitter
- DISP1 p.Asp982Asn Uncertain significance Single submitter
- DISP1 p.Cys1406Ser Uncertain significance Single submitter
- DISP1 p.Cys1483Arg Uncertain significance Single submitter
- DISP1 p.Cys148Tyr Uncertain significance Single submitter
- DISP1 p.Cys55Ser Uncertain significance Single submitter
- DISP1 p.Cys55Tyr Uncertain significance Single submitter
-
DISP1 p.Cys865Ser
Uncertain significance
Single submitter
DISP1-related disorder
- DISP1 p.Gln1128His Uncertain significance Single submitter
- DISP1 p.Gln1137Leu Uncertain significance Single submitter
- DISP1 p.Gln1223Arg Uncertain significance Single submitter
- DISP1 p.Gln1361Leu Uncertain significance Single submitter
- DISP1 p.Gln160His Uncertain significance Single submitter
- DISP1 p.Gln390Arg Uncertain significance Single submitter
- DISP1 p.Gln408Leu Uncertain significance Single submitter
- DISP1 p.Gln689Leu Uncertain significance Single submitter
- DISP1 p.Gln846Lys Uncertain significance Single submitter
- DISP1 p.Gln977His Uncertain significance Single submitter
- DISP1 p.Gln977Pro Uncertain significance Single submitter
- DISP1 p.Glu1033Lys Uncertain significance Single submitter
- DISP1 p.Glu1206Asp Uncertain significance Single submitter
- DISP1 p.Glu1382Asp Uncertain significance Single submitter
- DISP1 p.Glu1513Lys Uncertain significance Single submitter
- DISP1 p.Glu762Gln Uncertain significance Single submitter
- DISP1 p.Glu854Lys Uncertain significance Single submitter
- DISP1 p.Glu884Asp Uncertain significance Single submitter
- DISP1 p.Gly1018Arg Uncertain significance Single submitter
- DISP1 p.Gly1182Val Uncertain significance Single submitter
- DISP1 p.Gly1291Val Uncertain significance Single submitter
- DISP1 p.Gly1346Arg Uncertain significance Single submitter
- DISP1 p.Gly1400Glu Uncertain significance Single submitter
- DISP1 p.Gly1429Ala Uncertain significance Single submitter
- DISP1 p.Gly207Arg Uncertain significance Single submitter
-
DISP1 p.Gly222Ser
Uncertain significance
Single submitter
microform holoprosencephaly
- DISP1 p.Gly227Arg Uncertain significance Single submitter
- DISP1 p.Gly245Glu Uncertain significance Single submitter
- DISP1 p.His1156Arg Uncertain significance Single submitter
- DISP1 p.His1177Gln Uncertain significance Single submitter
- DISP1 p.His1189Arg Uncertain significance Single submitter
- DISP1 p.His1333Arg Uncertain significance Single submitter
- DISP1 p.His1466Asn Uncertain significance Single submitter
- DISP1 p.His1466Tyr Uncertain significance Single submitter
- DISP1 p.His287Leu Uncertain significance Single submitter
- DISP1 p.His388Arg Uncertain significance Single submitter
- DISP1 p.Ile1042Thr Uncertain significance Single submitter
- DISP1 p.Ile1329Val Uncertain significance Single submitter
- DISP1 p.Ile166Val Uncertain significance Single submitter
- DISP1 p.Ile185Thr Uncertain significance Single submitter
- DISP1 p.Ile18Phe Uncertain significance Single submitter
- DISP1 p.Ile467Thr Uncertain significance Single submitter
- DISP1 p.Ile487Ser Uncertain significance Single submitter
- DISP1 p.Ile565Thr Uncertain significance Single submitter
- DISP1 p.Ile715Val Uncertain significance Single submitter
- DISP1 p.Ile853Asn Uncertain significance Single submitter
- DISP1 p.Ile853Val Uncertain significance Single submitter
- DISP1 p.Leu1441Val Uncertain significance Single submitter
- DISP1 p.Leu250Val Uncertain significance Single submitter
- DISP1 p.Leu428Val Uncertain significance Single submitter
- DISP1 p.Leu431Ser Uncertain significance Single submitter
- DISP1 p.Leu601Ser Uncertain significance Single submitter
- DISP1 p.Leu642Ser Uncertain significance Single submitter
-
DISP1 p.Leu722Gln
Uncertain significance
Single submitter
holoprosencephaly 10
- DISP1 p.Leu783Val Uncertain significance Single submitter
- DISP1 p.Leu802Arg Uncertain significance Single submitter
- DISP1 p.Leu870Pro Uncertain significance Single submitter
- DISP1 p.Leu925Val Uncertain significance Single submitter
- DISP1 p.Leu985Val Uncertain significance Single submitter
- DISP1 p.Lys176Thr Uncertain significance Single submitter
- DISP1 p.Lys279Arg Uncertain significance Single submitter
- DISP1 p.Lys410Arg Uncertain significance Single submitter
- DISP1 p.Lys417Arg Uncertain significance Single submitter
- DISP1 p.Lys681Arg Uncertain significance Single submitter
- DISP1 p.Lys857Gln Uncertain significance Single submitter
- DISP1 p.Met1096Val Uncertain significance Single submitter
- DISP1 p.Met1112Thr Uncertain significance Single submitter
- DISP1 p.Met1501Arg Uncertain significance Single submitter
- DISP1 p.Met195Val Uncertain significance Single submitter
Predictors split 89
The independent predictors disagree with each other — read with care.
- DISP1 p.Ala733Val Uncertain significance Multiple submitters
- DISP1 p.Arg1061His Uncertain significance Multiple submitters
- DISP1 p.Arg718His Uncertain significance Multiple submitters
- DISP1 p.Arg763His Uncertain significance Multiple submitters
- DISP1 p.Asn1035Ser Uncertain significance Multiple submitters
- DISP1 p.Glu707Lys Uncertain significance Multiple submitters
- DISP1 p.Gly1070Asp Benign Multiple submitters
- DISP1 p.Gly60Val Uncertain significance Multiple submitters
- DISP1 p.His829Tyr Uncertain significance Multiple submitters
- DISP1 p.Met773Ile Uncertain significance Multiple submitters
- DISP1 p.Ser594Leu Uncertain significance Multiple submitters
- DISP1 p.Thr446Met Uncertain significance Multiple submitters
- DISP1 p.Tyr768His Uncertain significance Multiple submitters
-
DISP1 p.Val206Gly
Uncertain significance
Multiple submitters
DISP1-related disorder
- DISP1 p.Val793Met Uncertain significance Multiple submitters
- DISP1 p.Ala604Ser Uncertain significance Single submitter
- DISP1 p.Ala637Val Uncertain significance Single submitter
- DISP1 p.Arg1061Cys Uncertain significance Single submitter
- DISP1 p.Arg1078Cys Uncertain significance Single submitter
- DISP1 p.Arg1132Gln Likely benign Single submitter
- DISP1 p.Arg277Lys Uncertain significance Single submitter
- DISP1 p.Arg383Trp Uncertain significance Single submitter
- DISP1 p.Arg631Gln Uncertain significance Single submitter
- DISP1 p.Arg661Trp Uncertain significance Single submitter
- DISP1 p.Arg718Cys Uncertain significance Single submitter
- DISP1 p.Arg756Trp Uncertain significance Single submitter
- DISP1 p.Arg763Cys Uncertain significance Single submitter
- DISP1 p.Arg899Met Uncertain significance Single submitter
- DISP1 p.Arg899Ser Uncertain significance Single submitter
- DISP1 p.Asn315Asp Uncertain significance Single submitter
- DISP1 p.Asn800Ser Uncertain significance Single submitter
- DISP1 p.Asp1067His Uncertain significance Single submitter
- DISP1 p.Cys140Tyr Uncertain significance Single submitter
- DISP1 p.Cys85Tyr Uncertain significance Single submitter
- DISP1 p.Gln341Arg Uncertain significance Single submitter
- DISP1 p.Glu1069Gly Uncertain significance Single submitter
- DISP1 p.Glu1517Ala Uncertain significance Single submitter
- DISP1 p.Glu946Val Uncertain significance Single submitter
- DISP1 p.Gly1138Ser Uncertain significance Single submitter
- DISP1 p.Ile1115Thr Uncertain significance Single submitter
- DISP1 p.Ile491Thr Uncertain significance Single submitter
- DISP1 p.Ile853Thr Uncertain significance Single submitter
- DISP1 p.Leu1351Met Uncertain significance Single submitter
- DISP1 p.Leu361Val Uncertain significance Single submitter
- DISP1 p.Leu469Ser Uncertain significance Single submitter
- DISP1 p.Leu560Phe Uncertain significance Single submitter
- DISP1 p.Leu563Phe Uncertain significance Single submitter
- DISP1 p.Leu888Arg Uncertain significance Single submitter
- DISP1 p.Lys247Glu Uncertain significance Single submitter
- DISP1 p.Lys805Gln Uncertain significance Single submitter
- DISP1 p.Met608Val Uncertain significance Single submitter
- DISP1 p.Met785Leu Uncertain significance Single submitter
- DISP1 p.Met895Lys Uncertain significance Single submitter
- DISP1 p.Phe175Ser Uncertain significance Single submitter
- DISP1 p.Phe286Leu Uncertain significance Single submitter
- DISP1 p.Phe609Leu Uncertain significance Single submitter
- DISP1 p.Phe667Leu Uncertain significance Single submitter
- DISP1 p.Phe840Cys Uncertain significance Single submitter
- DISP1 p.Pro145Leu Uncertain significance Single submitter
- DISP1 p.Ser1077Gly Uncertain significance Single submitter
- DISP1 p.Ser1161Ile Uncertain significance Single submitter
- DISP1 p.Ser332Phe Uncertain significance Single submitter
- DISP1 p.Ser347Phe Uncertain significance Single submitter
- DISP1 p.Ser757Leu Uncertain significance Single submitter
- DISP1 p.Ser956Ile Uncertain significance Single submitter
- DISP1 p.Thr1330Met Uncertain significance Single submitter
- DISP1 p.Thr138Lys Uncertain significance Single submitter
- DISP1 p.Thr1405Met Uncertain significance Single submitter
- DISP1 p.Thr1446Met Likely benign Single submitter
- DISP1 p.Thr419Asn Uncertain significance Single submitter
- DISP1 p.Thr441Met Conflicting Single submitter
- DISP1 p.Thr561Ala Uncertain significance Single submitter
- DISP1 p.Thr61Met Uncertain significance Single submitter
- DISP1 p.Thr685Ile Uncertain significance Single submitter
-
DISP1 p.Thr788Ala
Uncertain significance
Single submitter
DISP1-related disorder
- DISP1 p.Thr849Ala Uncertain significance Single submitter
- DISP1 p.Thr855Ile Uncertain significance Single submitter
- DISP1 p.Tyr1060Phe Uncertain significance Single submitter
- DISP1 p.Tyr181His Uncertain significance Single submitter
- DISP1 p.Val1036Leu Uncertain significance Single submitter
- DISP1 p.Val1058Ile Uncertain significance Single submitter
- DISP1 p.Val1092Gly Uncertain significance Single submitter
- DISP1 p.Val1092Met Uncertain significance Single submitter
- DISP1 p.Val206Phe Uncertain significance Single submitter
- DISP1 p.Val414Met Uncertain significance Single submitter
- DISP1 p.Val481Ala Uncertain significance Single submitter
- DISP1 p.Val481Met Uncertain significance Single submitter
- DISP1 p.Val709Ala Uncertain significance Single submitter
-
DISP1 p.Val947Met
Likely pathogenic
Single submitter
holoprosencephaly 10
All DISP1 variants
Pathogenic 2
- p.Gln158Ter Single submitter
- p.Val11_Val12insTer Single submitter
Likely pathogenic 6
- c.664-2A>G Single submitter
- p.Cys688Ter Single submitter holoprosencephaly 10
- p.Glu1257fs Single submitter holoprosencephaly 10
- p.Gly1437fs Single submitter holoprosencephaly 10
- p.Ser144Cys Single submitter ⚠
- p.Val947Met Single submitter holoprosencephaly 10 ⚠
Conflicting classifications of pathogenicity 11
- p.Arg299Ter Single submitter holoprosencephaly 7
- p.Asp1179Ala Single submitter ⚠
- p.Glu592Lys Single submitter ⚠
- p.Gly1311Ser Single submitter ⚠
- p.His1331fs Single submitter holoprosencephaly 10
- p.Ile1006Val Single submitter ⚠
- p.Leu1520del Single submitter DISP1-related disorder
- p.Pro189Leu Single submitter microform holoprosencephaly ⚠
- p.Ser1303Gly Single submitter ⚠
- p.Thr441Met Single submitter ⚠
- p.Thr92Ser Single submitter ⚠
Benign 39
- c.509+213C>T Multiple submitters
- c.509+249A>T Multiple submitters
- c.510-40C>T Multiple submitters
- c.791+85T>G Multiple submitters
- c.890-14T>C Multiple submitters
- c.-17-40C>T Multiple submitters
- p.Ala1247Ser Multiple submitters
- p.Ala1247Thr Multiple submitters
- p.Asp1246= Multiple submitters
- p.Glu103Asp Multiple submitters
- p.Glu103Lys Multiple submitters
- p.Gly1070Asp Multiple submitters ⚠
- p.Leu1239Pro Multiple submitters
- p.Lys945= Multiple submitters
- p.Phe1091= Multiple submitters
- p.Pro1274= Multiple submitters
- p.Pro25= Multiple submitters
- p.Ser1163Gly Multiple submitters
- p.Thr1209Ala Multiple submitters
- p.Val1079Met Multiple submitters
- p.Val1261Met Multiple submitters
- p.Val512= Multiple submitters
- c.509+12G>A Single submitter
- c.510-131dup Single submitter
- c.510-132_510-131dup Single submitter
- c.510-208C>T Single submitter
- c.510-4del Single submitter
- c.510-5_510-4dup Single submitter
- c.539+202C>T Single submitter
- c.664-315A>T Single submitter
- c.988-347G>A Single submitter
- p.Asp1421= Single submitter
- p.Glu103Asn Single submitter
- p.Gly480= Single submitter
- p.Ser929= Single submitter
- p.Ser96Thr Single submitter
- p.Tyr974= Single submitter
- p.Val1322= Single submitter
- p.Val62= Single submitter
Benign/Likely benign 5
- p.Asp813= Multiple submitters
- p.Met1096Thr Multiple submitters
- p.Thr138= Multiple submitters
- p.Thr1405= Multiple submitters
- p.Thr650= Multiple submitters
Likely benign 97
- c.539+60T>C Multiple submitters
- p.Arg756Gln Multiple submitters
- p.Asn1281Ile Multiple submitters
- p.Asp1051= Multiple submitters
- p.Gln928Arg Multiple submitters
- p.Glu553= Multiple submitters
- p.Gly634= Multiple submitters
- p.Leu1076= Multiple submitters
- p.Pro1391= Multiple submitters
- p.Pro396= Multiple submitters
- p.Ser17= Multiple submitters
- p.Ser757= Multiple submitters
- p.Thr485= Multiple submitters
- c.509+11C>G Single submitter
- c.509+15del Single submitter
- c.510-15T>C Single submitter
- c.510-16C>T Single submitter
- c.539+129T>C Single submitter
- c.540-10T>C Single submitter
- c.890-18T>C Single submitter
- c.988-10A>C Single submitter
- c.988-231A>G Single submitter
- c.988-6C>T Single submitter
- c.-17-279G>A Single submitter
- p.Ala1045= Single submitter
- p.Ala1082= Single submitter
- p.Ala186= Single submitter
- p.Ala591= Single submitter
- p.Ala637= Single submitter
- p.Ala995= Single submitter
- p.Arg1132Gln Single submitter ⚠
- p.Arg280= Single submitter
- p.Asn1281= Single submitter
- p.Asn1310= Single submitter
- p.Asn15= Single submitter
- p.Asn413= Single submitter
- p.Asn466= Single submitter
- p.Asp1275Asn Single submitter
- p.Asp1447= Single submitter
- p.Asp294= Single submitter
- p.Asp435= Single submitter
- p.Cys1407= Single submitter
- p.Cys1417= Single submitter
- p.Cys1417Arg Single submitter
- p.Cys293= Single submitter
- p.Gly1283= Single submitter
- p.Gly1291= Single submitter
- p.Gly33= Single submitter
- p.Gly780= Single submitter
- p.Gly792= Single submitter
- p.His1232= Single submitter
- p.His1358= Single submitter
- p.His603= Single submitter
- p.Ile18= Single submitter
- p.Ile358= Single submitter
- p.Leu1001= Single submitter
- p.Leu1267= Single submitter
- p.Leu722= Single submitter
- p.Leu870= Single submitter
- p.Leu888= Single submitter
- p.Lys672= Single submitter
- p.Lys769= Single submitter
- p.Met1083Ile Single submitter
- p.Phe1122= Single submitter
- p.Phe199= Single submitter
- p.Phe199Leu Single submitter
- p.Phe552= Single submitter
- p.Phe706= Single submitter
- p.Phe927= Single submitter
- p.Pro1066= Single submitter
- p.Pro1409= Single submitter
- p.Pro189= Single submitter
- p.Pro219= Single submitter
- p.Pro673= Single submitter
- p.Ser1039= Single submitter
- p.Ser114= Single submitter
- p.Ser1245Arg Single submitter
- p.Ser1392Leu Single submitter
- p.Ser750= Single submitter
- p.Ser878= Single submitter
- p.Ser953Asn Single submitter
- p.Ser957= Single submitter
- p.Thr1019= Single submitter
- p.Thr1302= Single submitter
- p.Thr138Ala Single submitter
- p.Thr1446Met Single submitter ⚠
- p.Thr61= Single submitter
- p.Thr930= Single submitter
- p.Tyr444= Single submitter
- p.Val1489= Single submitter
- p.Val191= Single submitter
- p.Val514= Single submitter
- p.Ala510= No assertion criteria DISP1-related disorder
- p.Asn622= No assertion criteria DISP1-related disorder
- p.Glu488= No assertion criteria DISP1-related disorder
- p.Leu1030= No assertion criteria DISP1-related disorder
- p.Pro27= No assertion criteria DISP1-related disorder
Uncertain significance 324
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1204Thr Multiple submitters ⚠
- p.Ala248Val Multiple submitters holoprosencephaly ⚠
- p.Ala733Val Multiple submitters ⚠
- p.Arg1061His Multiple submitters ⚠
- p.Arg718His Multiple submitters ⚠
- p.Arg763His Multiple submitters ⚠
- p.Asn1035Ser Multiple submitters ⚠
- p.Asp1067Asn Multiple submitters ⚠
- p.Asp187Asn Multiple submitters ⚠
- p.Gln602Lys Multiple submitters ⚠
- p.Gln689Arg Multiple submitters ⚠
- p.Glu1218Gln Multiple submitters ⚠
- p.Glu1323Lys Multiple submitters ⚠
- p.Glu707Lys Multiple submitters ⚠
- p.Gly1138fs Multiple submitters microform holoprosencephaly
- p.Gly60Val Multiple submitters ⚠
- p.Gly902Glu Multiple submitters ⚠
- p.His1263Pro Multiple submitters ⚠
- p.His1331Pro Multiple submitters ⚠
- p.His829Tyr Multiple submitters ⚠
- p.His94Arg Multiple submitters ⚠
- p.Leu1280Met Multiple submitters ⚠
- p.Met117Val Multiple submitters ⚠
- p.Met3Val Multiple submitters ⚠
- p.Met773Ile Multiple submitters ⚠
- p.Phe336fs Multiple submitters
- p.Pro1230Ser Multiple submitters ⚠
- p.Pro1352Ser Multiple submitters holoprosencephaly 10 ⚠
- p.Ser114Leu Multiple submitters ⚠
- p.Ser1398Asn Multiple submitters ⚠
- p.Ser594Leu Multiple submitters ⚠
- p.Ser612Arg Multiple submitters ⚠
- p.Thr446Met Multiple submitters ⚠
- p.Tyr1235Ter Multiple submitters
- p.Tyr768His Multiple submitters ⚠
- p.Tyr974Cys Multiple submitters ⚠
- p.Val1046Ile Multiple submitters ⚠
- p.Val1312Met Multiple submitters ⚠
- p.Val206Gly Multiple submitters DISP1-related disorder ⚠
- p.Val793Met Multiple submitters ⚠
- p.Val968Phe Multiple submitters ⚠
- c.540-10T>A Single submitter
- c.540-47_540-6del Single submitter
- p.Ala1053Pro Single submitter ⚠
- p.Ala1082Val Single submitter ⚠
- p.Ala1087Pro Single submitter ⚠
- p.Ala108Thr Single submitter ⚠
- p.Ala1123Thr Single submitter ⚠
- p.Ala1175Ser Single submitter ⚠
- p.Ala1234Gly Single submitter ⚠
- p.Ala1321Thr Single submitter ⚠
- p.Ala1365Thr Single submitter ⚠
- p.Ala182Ser Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala359Thr Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala403Ile Single submitter
- p.Ala534Glu Single submitter ⚠
- p.Ala604Ser Single submitter ⚠
- p.Ala604Thr Single submitter ⚠
- p.Ala637Val Single submitter ⚠
- p.Ala654Glu Single submitter ⚠
- p.Ala733Thr Single submitter ⚠
- p.Ala819Asp Single submitter ⚠
- p.Ala822Thr Single submitter ⚠
- p.Arg1061Cys Single submitter ⚠
- p.Arg1068Ter Single submitter
- p.Arg1078Cys Single submitter ⚠
- p.Arg1078His Single submitter ⚠
- p.Arg1397Gly Single submitter ⚠
- p.Arg269Gly Single submitter ⚠
- p.Arg277Lys Single submitter ⚠
- p.Arg331Thr Single submitter DISP1-related Holoprosencephaly ⚠
- p.Arg373Gln Single submitter ⚠
- p.Arg373Gly Single submitter ⚠
- p.Arg383Trp Single submitter ⚠
- p.Arg416His Single submitter ⚠
- p.Arg631Gln Single submitter ⚠
- p.Arg661Pro Single submitter ⚠
- p.Arg661Trp Single submitter ⚠
- p.Arg703Gln Single submitter ⚠
- p.Arg703Ter Single submitter DISP1-related disorder
- p.Arg718Cys Single submitter ⚠
- p.Arg756Trp Single submitter ⚠
- p.Arg763Cys Single submitter ⚠
- p.Arg899Met Single submitter ⚠
- p.Arg899Ser Single submitter ⚠
- p.Asn1174Ser Single submitter ⚠
- p.Asn1354His Single submitter ⚠
- p.Asn1451Thr Single submitter ⚠
- p.Asn1478Asp Single submitter ⚠
- p.Asn1492His Single submitter ⚠
- p.Asn315Asp Single submitter ⚠
- p.Asn324Asp Single submitter ⚠
- p.Asn413Ser Single submitter ⚠
- p.Asn665Ser Single submitter ⚠
- p.Asn71Lys Single submitter ⚠
- p.Asn800Ser Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asp1065Gly Single submitter ⚠
- p.Asp1067His Single submitter ⚠
- p.Asp1246Glu Single submitter ⚠
- p.Asp1246Gly Single submitter ⚠
- p.Asp1275Ala Single submitter ⚠
- p.Asp1292Asn Single submitter ⚠
- p.Asp1408Glu Single submitter ⚠
- p.Asp155Asn Single submitter ⚠
- p.Asp272Gly Single submitter ⚠
- p.Asp273Asn Single submitter ⚠
- p.Asp572Gly Single submitter ⚠
- p.Asp587His Single submitter DISP1-related disorder ⚠
- p.Asp679del Single submitter
- p.Asp797Gly Single submitter ⚠
- p.Asp982Asn Single submitter ⚠
- p.Cys1337fs Single submitter
- p.Cys1406Ser Single submitter ⚠
- p.Cys140Tyr Single submitter ⚠
- p.Cys1483Arg Single submitter ⚠
- p.Cys148Tyr Single submitter ⚠
- p.Cys55Ser Single submitter ⚠
- p.Cys55Tyr Single submitter ⚠
- p.Cys85Tyr Single submitter ⚠
- p.Cys865Ser Single submitter DISP1-related disorder ⚠
- p.Gln1128His Single submitter ⚠
- p.Gln1137Leu Single submitter ⚠
- p.Gln1223Arg Single submitter ⚠
- p.Gln1320Ter Single submitter
- p.Gln1361Leu Single submitter ⚠
- p.Gln160His Single submitter ⚠
- p.Gln341Arg Single submitter ⚠
- p.Gln390Arg Single submitter ⚠
- p.Gln408Leu Single submitter ⚠
- p.Gln689Leu Single submitter ⚠
- p.Gln689Ter Single submitter
- p.Gln846Lys Single submitter ⚠
- p.Gln977His Single submitter ⚠
- p.Gln977Pro Single submitter ⚠
- p.Glu1033Lys Single submitter ⚠
- p.Glu1069Gly Single submitter ⚠
- p.Glu1206Asp Single submitter ⚠
- p.Glu1382Asp Single submitter ⚠
- p.Glu1470Ter Single submitter
- p.Glu1513Lys Single submitter ⚠
- p.Glu1517Ala Single submitter ⚠
- p.Glu762Gln Single submitter ⚠
- p.Glu854Lys Single submitter ⚠
- p.Glu884Asp Single submitter ⚠
- p.Glu946Val Single submitter ⚠
- p.Gly1018Arg Single submitter ⚠
- p.Gly1138Ser Single submitter ⚠
- p.Gly1182Val Single submitter ⚠
- p.Gly1291Val Single submitter ⚠
- p.Gly1346Arg Single submitter ⚠
- p.Gly1400Glu Single submitter ⚠
- p.Gly1429Ala Single submitter ⚠
- p.Gly207Arg Single submitter ⚠
- p.Gly222Ser Single submitter microform holoprosencephaly ⚠
- p.Gly227Arg Single submitter ⚠
- p.Gly245Glu Single submitter ⚠
- p.His1156Arg Single submitter ⚠
- p.His1177Gln Single submitter ⚠
- p.His1189Arg Single submitter ⚠
- p.His1333Arg Single submitter ⚠
- p.His1466Asn Single submitter ⚠
- p.His1466Tyr Single submitter ⚠
- p.His287Leu Single submitter ⚠
- p.His388Arg Single submitter ⚠
- p.Ile1042Thr Single submitter ⚠
- p.Ile1115Thr Single submitter ⚠
- p.Ile1329Val Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile185Thr Single submitter ⚠
- p.Ile18Phe Single submitter ⚠
- p.Ile467Thr Single submitter ⚠
- p.Ile487Ser Single submitter ⚠
- p.Ile491Thr Single submitter ⚠
- p.Ile565Thr Single submitter ⚠
- p.Ile715Val Single submitter ⚠
- p.Ile853Asn Single submitter ⚠
- p.Ile853Thr Single submitter ⚠
- p.Ile853Val Single submitter ⚠
- p.Leu1351Met Single submitter ⚠
- p.Leu1441Val Single submitter ⚠
- p.Leu1509fs Single submitter
- p.Leu250Val Single submitter ⚠
- p.Leu361Val Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Leu431Ser Single submitter ⚠
- p.Leu469Ser Single submitter ⚠
- p.Leu560Phe Single submitter ⚠
- p.Leu563Phe Single submitter ⚠
- p.Leu601Ser Single submitter ⚠
- p.Leu642Ser Single submitter ⚠
- p.Leu722Gln Single submitter holoprosencephaly 10 ⚠
- p.Leu783Val Single submitter ⚠
- p.Leu802Arg Single submitter ⚠
- p.Leu870Pro Single submitter ⚠
- p.Leu888Arg Single submitter ⚠
- p.Leu925Val Single submitter ⚠
- p.Leu985Val Single submitter ⚠
- p.Lys176Thr Single submitter ⚠
- p.Lys247Glu Single submitter ⚠
- p.Lys279Arg Single submitter ⚠
- p.Lys410Arg Single submitter ⚠
- p.Lys417Arg Single submitter ⚠
- p.Lys681Arg Single submitter ⚠
- p.Lys805Gln Single submitter ⚠
- p.Lys857Gln Single submitter ⚠
- p.Met1096Val Single submitter ⚠
- p.Met1112Thr Single submitter ⚠
- p.Met1501Arg Single submitter ⚠
- p.Met195Val Single submitter ⚠
- p.Met1Leu Single submitter
- p.Met240Val Single submitter ⚠
- p.Met3Thr Single submitter ⚠
- p.Met525Thr Single submitter ⚠
- p.Met532Val Single submitter ⚠
- p.Met608Val Single submitter ⚠
- p.Met77Leu Single submitter ⚠
- p.Met785Leu Single submitter ⚠
- p.Met895Lys Single submitter ⚠
- p.Phe1052Ser Single submitter ⚠
- p.Phe1265del Single submitter
- p.Phe1355Val Single submitter ⚠
- p.Phe1356Leu Single submitter ⚠
- p.Phe175Ser Single submitter ⚠
- p.Phe286Leu Single submitter ⚠
- p.Phe291Cys Single submitter ⚠
- p.Phe544Leu Single submitter ⚠
- p.Phe609Cys Single submitter ⚠
- p.Phe609Leu Single submitter ⚠
- p.Phe667Leu Single submitter ⚠
- p.Phe696Leu Single submitter ⚠
- p.Phe840Cys Single submitter ⚠
- p.Phe840Leu Single submitter ⚠
- p.Pro1099Leu Single submitter ⚠
- p.Pro109Leu Single submitter ⚠
- p.Pro1180Leu Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro30Ala Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro415Leu Single submitter ⚠
- p.Pro447Ser Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Ser1043Leu Single submitter ⚠
- p.Ser1077Gly Single submitter ⚠
- p.Ser1152Gly Single submitter ⚠
- p.Ser1161Ile Single submitter ⚠
- p.Ser1299Phe Single submitter ⚠
- p.Ser1401Leu Single submitter ⚠
- p.Ser1428Asn Single submitter ⚠
- p.Ser1444Ter Single submitter
- p.Ser1449Arg Single submitter ⚠
- p.Ser1449Thr Single submitter ⚠
- p.Ser1493Pro Single submitter ⚠
- p.Ser21Asn Single submitter ⚠
- p.Ser271fs Single submitter
- p.Ser332Phe Single submitter ⚠
- p.Ser347Phe Single submitter ⚠
- p.Ser365Trp Single submitter ⚠
- p.Ser478Pro Single submitter ⚠
- p.Ser538Tyr Single submitter ⚠
- p.Ser757Leu Single submitter ⚠
- p.Ser850Thr Single submitter ⚠
- p.Ser900Asn Single submitter ⚠
- p.Ser907Gly Single submitter ⚠
- p.Ser956Ile Single submitter ⚠
- p.Thr1124Ile Single submitter ⚠
- p.Thr1170Ser Single submitter ⚠
- p.Thr1330Met Single submitter ⚠
- p.Thr138Lys Single submitter ⚠
- p.Thr1405Met Single submitter ⚠
- p.Thr1446Lys Single submitter ⚠
- p.Thr344Asn Single submitter ⚠
- p.Thr419Asn Single submitter ⚠
- p.Thr46Ala Single submitter ⚠
- p.Thr561Ala Single submitter ⚠
- p.Thr600Asn Single submitter ⚠
- p.Thr615Ala Single submitter ⚠
- p.Thr61Met Single submitter ⚠
- p.Thr628Ile Single submitter ⚠
- p.Thr639Ile Single submitter holoprosencephaly ⚠
- p.Thr685Ile Single submitter ⚠
- p.Thr788Ala Single submitter DISP1-related disorder ⚠
- p.Thr849Ala Single submitter ⚠
- p.Thr855Ile Single submitter ⚠
- p.Thr919Ser Single submitter ⚠
- p.Trp651Leu Single submitter ⚠
- p.Trp684Arg Single submitter ⚠
- p.Trp724Ser Single submitter ⚠
- p.Trp826Ter Single submitter
- p.Trp966Ter Single submitter microform holoprosencephaly
- p.Tyr1060Phe Single submitter ⚠
- p.Tyr1277Phe Single submitter ⚠
- p.Tyr181His Single submitter ⚠
- p.Tyr181Ter Single submitter
- p.Tyr506Cys Single submitter ⚠
- p.Tyr678Asp Single submitter ⚠
- p.Tyr678His Single submitter ⚠
- p.Tyr734Ter Single submitter