CEMIP — 262 ClinVar variants
All ClinVar germline CEMIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →
1 Conflicting · 57 Benign · 2 Benign/Likely benign · 26 Likely benign · 176 Uncertain significance
Full CEMIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 180
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.
Predictors lean, ClinVar uncertain 110
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEMIP p.Ala33Val Uncertain significance Multiple submitters
- CEMIP p.Gly870Asp Uncertain significance Multiple submitters
- CEMIP p.Ala150Val Uncertain significance Single submitter
- CEMIP p.Ala235Val Uncertain significance Single submitter
- CEMIP p.Ala463Ser Uncertain significance Single submitter
- CEMIP p.Ala729Thr Uncertain significance Single submitter
- CEMIP p.Arg1015Gln Uncertain significance Single submitter
- CEMIP p.Arg1332Gln Uncertain significance Single submitter
- CEMIP p.Arg206Gln Uncertain significance Single submitter
- CEMIP p.Arg206Trp Uncertain significance Single submitter
- CEMIP p.Arg357His Uncertain significance Single submitter
- CEMIP p.Arg390Gln Uncertain significance Single submitter
- CEMIP p.Arg400Gly Uncertain significance Single submitter
- CEMIP p.Arg588Cys Uncertain significance Single submitter
- CEMIP p.Arg734Gln Uncertain significance Single submitter
- CEMIP p.Arg776Trp Uncertain significance Single submitter
- CEMIP p.Arg797Cys Uncertain significance Single submitter
- CEMIP p.Arg853Ser Uncertain significance Single submitter
- CEMIP p.Arg901Trp Uncertain significance Single submitter
- CEMIP p.Arg909His Uncertain significance Single submitter
- CEMIP p.Arg982Gln Uncertain significance Single submitter
- CEMIP p.Asn165Ser Uncertain significance Single submitter
- CEMIP p.Asn312Ser Uncertain significance Single submitter
- CEMIP p.Asn418Ser Uncertain significance Single submitter
- CEMIP p.Asn513His Uncertain significance Single submitter
- CEMIP p.Asn681His Uncertain significance Single submitter
- CEMIP p.Asn911His Uncertain significance Single submitter
- CEMIP p.Asp1313His Uncertain significance Single submitter
- CEMIP p.Asp367Asn Uncertain significance Single submitter
- CEMIP p.Asp389Asn Uncertain significance Single submitter
- CEMIP p.Asp51Asn Uncertain significance Single submitter
- CEMIP p.Asp8Asn Uncertain significance Single submitter
- CEMIP p.Gln1059His Uncertain significance Single submitter
- CEMIP p.Gln1115Arg Uncertain significance Single submitter
- CEMIP p.Gln133Arg Uncertain significance Single submitter
- CEMIP p.Gln550His Uncertain significance Single submitter
- CEMIP p.Gln554His Uncertain significance Single submitter
- CEMIP p.Gln790Arg Uncertain significance Single submitter
- CEMIP p.Gln7Arg Uncertain significance Single submitter
- CEMIP p.Glu1147Asp Uncertain significance Single submitter
- CEMIP p.Glu1187Lys Uncertain significance Single submitter
- CEMIP p.Glu1243Ala Uncertain significance Single submitter
- CEMIP p.Glu374Lys Uncertain significance Single submitter
- CEMIP p.Glu747Lys Uncertain significance Single submitter
- CEMIP p.Glu90Lys Uncertain significance Single submitter
- CEMIP p.Glu967Lys Uncertain significance Single submitter
- CEMIP p.Gly1158Val Uncertain significance Single submitter
- CEMIP p.Gly1201Ala Uncertain significance Single submitter
- CEMIP p.Gly171Ala Uncertain significance Single submitter
- CEMIP p.Gly27Glu Uncertain significance Single submitter
- CEMIP p.Gly479Arg Uncertain significance Single submitter
- CEMIP p.Gly799Arg Uncertain significance Single submitter
- CEMIP p.Gly864Arg Uncertain significance Single submitter
- CEMIP p.Gly963Asp Uncertain significance Single submitter
- CEMIP p.His169Tyr Uncertain significance Single submitter
- CEMIP p.His262Asn Uncertain significance Single submitter
- CEMIP p.His307Tyr Uncertain significance Single submitter
- CEMIP p.His783Asn Uncertain significance Single submitter
- CEMIP p.His919Arg Uncertain significance Single submitter
- CEMIP p.His919Tyr Uncertain significance Single submitter
- CEMIP p.Ile1334Leu Uncertain significance Single submitter
- CEMIP p.Ile190Thr Uncertain significance Single submitter
- CEMIP p.Ile202Leu Uncertain significance Single submitter
- CEMIP p.Ile785Val Uncertain significance Single submitter
- CEMIP p.Leu1028Pro Uncertain significance Single submitter
- CEMIP p.Leu1093Ile Uncertain significance Single submitter
- CEMIP p.Leu1093Val Uncertain significance Single submitter
- CEMIP p.Leu532Val Uncertain significance Single submitter
- CEMIP p.Leu898Val Uncertain significance Single submitter
- CEMIP p.Lys410Arg Uncertain significance Single submitter
- CEMIP p.Lys535Glu Uncertain significance Single submitter
- CEMIP p.Lys723Asn Uncertain significance Single submitter
- CEMIP p.Lys751Thr Uncertain significance Single submitter
- CEMIP p.Met1016Lys Uncertain significance Single submitter
- CEMIP p.Met366Thr Uncertain significance Single submitter
- CEMIP p.Met849Val Uncertain significance Single submitter
- CEMIP p.Met950Thr Uncertain significance Single submitter
- CEMIP p.Phe1090Ser Uncertain significance Single submitter
- CEMIP p.Phe11Leu Uncertain significance Single submitter
- CEMIP p.Phe1264Leu Uncertain significance Single submitter
- CEMIP p.Phe1277Leu Uncertain significance Single submitter
- CEMIP p.Pro1045Arg Uncertain significance Single submitter
- CEMIP p.Pro268Ala Uncertain significance Single submitter
- CEMIP p.Pro26Ser Uncertain significance Single submitter
- CEMIP p.Pro406Arg Uncertain significance Single submitter
- CEMIP p.Pro406Ser Uncertain significance Single submitter
- CEMIP p.Pro510Ser Uncertain significance Single submitter
- CEMIP p.Pro556Leu Uncertain significance Single submitter
- CEMIP p.Ser1127Asn Uncertain significance Single submitter
- CEMIP p.Ser1242Leu Uncertain significance Single submitter
- CEMIP p.Ser645Gly Uncertain significance Single submitter
- CEMIP p.Ser761Phe Uncertain significance Single submitter
- CEMIP p.Thr1035Ile Uncertain significance Single submitter
- CEMIP p.Thr1060Met Uncertain significance Single submitter
- CEMIP p.Thr1107Met Uncertain significance Single submitter
- CEMIP p.Thr1262Arg Uncertain significance Single submitter
- CEMIP p.Thr31Ala Uncertain significance Single submitter
- CEMIP p.Thr31Lys Uncertain significance Single submitter
- CEMIP p.Thr523Ile Uncertain significance Single submitter
- CEMIP p.Thr847Met Uncertain significance Single submitter
- CEMIP p.Thr974Met Uncertain significance Single submitter
- CEMIP p.Tyr137His Uncertain significance Single submitter
- CEMIP p.Val1193Met Uncertain significance Single submitter
- CEMIP p.Val1298Ala Uncertain significance Single submitter
- CEMIP p.Val485Met Uncertain significance Single submitter
- CEMIP p.Val702Ile Uncertain significance Single submitter
- CEMIP p.Val708Met Uncertain significance Single submitter
- CEMIP p.Val845Met Uncertain significance Single submitter
- CEMIP p.Val930Ile Uncertain significance Single submitter
- CEMIP p.Val965Met Uncertain significance Single submitter
Predictors split 69
The independent predictors disagree with each other — read with care.
- CEMIP p.Glu215Asp Likely benign Multiple submitters
- CEMIP p.Ala1312Val Uncertain significance Single submitter
- CEMIP p.Ala225Val Uncertain significance Single submitter
- CEMIP p.Ala295Pro Uncertain significance Single submitter
- CEMIP p.Arg1332Trp Uncertain significance Single submitter
- CEMIP p.Arg298Gln Uncertain significance Single submitter
- CEMIP p.Arg298Trp Uncertain significance Single submitter
- CEMIP p.Arg390Trp Uncertain significance Single submitter
- CEMIP p.Arg400Gln Uncertain significance Single submitter
- CEMIP p.Arg400Trp Uncertain significance Single submitter
- CEMIP p.Arg728Gln Uncertain significance Single submitter
- CEMIP p.Arg754Gln Uncertain significance Single submitter
- CEMIP p.Arg807Trp Uncertain significance Single submitter
- CEMIP p.Asn596Ser Uncertain significance Single submitter
- CEMIP p.Asn844Asp Uncertain significance Single submitter
- CEMIP p.Asp1076Asn Uncertain significance Single submitter
- CEMIP p.Asp1285Gly Uncertain significance Single submitter
- CEMIP p.Asp195Asn Uncertain significance Single submitter
- CEMIP p.Asp38Tyr Uncertain significance Single submitter
- CEMIP p.Asp626Tyr Uncertain significance Single submitter
- CEMIP p.Asp771Asn Uncertain significance Single submitter
- CEMIP p.Asp861Tyr Uncertain significance Single submitter
- CEMIP p.Asp953Asn Uncertain significance Single submitter
- CEMIP p.Gln304Arg Uncertain significance Single submitter
- CEMIP p.Gln44Pro Uncertain significance Single submitter
- CEMIP p.Glu453Lys Uncertain significance Single submitter
- CEMIP p.Glu841Lys Uncertain significance Single submitter
- CEMIP p.Gly104Arg Uncertain significance Single submitter
- CEMIP p.Gly104Glu Uncertain significance Single submitter
- CEMIP p.Gly144Ala Uncertain significance Single submitter
- CEMIP p.Gly308Asp Uncertain significance Single submitter
- CEMIP p.Gly380Val Uncertain significance Single submitter
- CEMIP p.Gly49Asp Uncertain significance Single submitter
- CEMIP p.Gly533Arg Uncertain significance Single submitter
- CEMIP p.Gly569Arg Uncertain significance Single submitter
- CEMIP p.Gly594Ser Uncertain significance Single submitter
- CEMIP p.His55Tyr Uncertain significance Single submitter
- CEMIP p.Ile1078Met Uncertain significance Single submitter
- CEMIP p.Ile1251Thr Uncertain significance Single submitter
- CEMIP p.Ile781Val Uncertain significance Single submitter
- CEMIP p.Leu151Phe Uncertain significance Single submitter
- CEMIP p.Leu632His Uncertain significance Single submitter
- CEMIP p.Met647Ile Uncertain significance Single submitter
- CEMIP p.Phe1110Leu Uncertain significance Single submitter
- CEMIP p.Phe1264Ile Uncertain significance Single submitter
- CEMIP p.Phe401Tyr Uncertain significance Single submitter
- CEMIP p.Pro278Ser Likely benign Single submitter
- CEMIP p.Pro435Arg Uncertain significance Single submitter
- CEMIP p.Pro772Leu Uncertain significance Single submitter
- CEMIP p.Pro91Leu Uncertain significance Single submitter
- CEMIP p.Pro931Leu Uncertain significance Single submitter
- CEMIP p.Thr1104Met Uncertain significance Single submitter
- CEMIP p.Thr1304Pro Uncertain significance Single submitter
- CEMIP p.Thr167Asn Uncertain significance Single submitter
- CEMIP p.Thr16Asn Uncertain significance Single submitter
- CEMIP p.Thr71Met Uncertain significance Single submitter
- CEMIP p.Thr822Ile Uncertain significance Single submitter
- CEMIP p.Tyr1123Cys Uncertain significance Single submitter
- CEMIP p.Tyr725Cys Uncertain significance Single submitter
- CEMIP p.Val1096Ala Uncertain significance Single submitter
- CEMIP p.Val1111Met Uncertain significance Single submitter
- CEMIP p.Val1250Ala Uncertain significance Single submitter
- CEMIP p.Val220Ile Uncertain significance Single submitter
- CEMIP p.Val313Ile Uncertain significance Single submitter
- CEMIP p.Val323Gly Uncertain significance Single submitter
- CEMIP p.Val430Ala Uncertain significance Single submitter
- CEMIP p.Val603Ile Uncertain significance Single submitter
- CEMIP p.Val604Met Uncertain significance Single submitter
-
CEMIP p.Ala463Thr
Likely benign
No assertion criteria
CEMIP-related disorder
All CEMIP variants
Conflicting classifications of pathogenicity 1
- p.Glu1133Lys Single submitter ⚠
Benign 57
- c.1086+82T>A Multiple submitters
- c.1087-239G>A Multiple submitters
- c.1412-76G>A Multiple submitters
- c.1587+57A>G Multiple submitters
- c.1587+79G>A Multiple submitters
- c.1797+102T>C Multiple submitters
- c.2074-72G>A Multiple submitters
- c.2202+133A>C Multiple submitters
- c.2203-143G>T Multiple submitters
- c.2289-117C>T Multiple submitters
- c.242-144A>G Multiple submitters
- c.242-9C>T Multiple submitters
- c.3699+63C>G Multiple submitters
- c.3958+221C>T Multiple submitters
- c.3958+306A>G Multiple submitters
- c.3959-321A>G Multiple submitters
- c.797+26C>G Multiple submitters
- c.798-109G>T Multiple submitters
- c.798-159G>A Multiple submitters
- c.798-87C>T Multiple submitters
- c.869-61G>A Multiple submitters
- c.94+78G>C Multiple submitters
- p.Cys628= Multiple submitters
- p.Gly840= Multiple submitters
- p.His783Arg Multiple submitters
- p.Leu83= Multiple submitters
- p.Lys158= Multiple submitters
- p.Pro1273= Multiple submitters
- p.Pro657= Multiple submitters
- p.Pro755= Multiple submitters
- p.Thr1060= Multiple submitters
- p.Tyr711= Multiple submitters
- p.Val1259= Multiple submitters
- p.Val323Met Multiple submitters
- c.1587+182del Single submitter
- c.1798-267del Single submitter
- c.242-267G>C Single submitter
- c.2420+195A>G Single submitter
- c.2420+210T>C Single submitter
- c.2612+256T>C Single submitter
- c.3221+208C>T Single submitter
- c.3221+7G>A Single submitter
- c.3222-185T>C Single submitter
- c.3222-225G>A Single submitter
- c.3699+156C>T Single submitter
- c.381-263C>T Single submitter
- c.381-273A>G Single submitter
- c.3858-208T>C Single submitter
- c.3858-310C>T Single submitter
- c.3959-77T>C Single submitter
- c.94+168G>A Single submitter
- c.95-131G>A Single submitter
- c.964+256C>T Single submitter
- p.Ala1063Thr Single submitter
- p.Lys1360del Single submitter
- p.Ser317= Single submitter
- p.Asp929= No assertion criteria CEMIP-related disorder
Benign/Likely benign 2
- p.His1209Tyr Multiple submitters
- p.Leu411Val Multiple submitters
Likely benign 26
- p.Glu215Asp Multiple submitters ⚠
- c.869-5G>A Single submitter
- p.Arg1257His Single submitter
- p.Arg395Gln Single submitter
- p.Asp89Asn Single submitter
- p.Gln1103= Single submitter
- p.Gly290= Single submitter
- p.Gly59Ser Single submitter
- p.Lys1317Arg Single submitter
- p.Pro278Ser Single submitter ⚠
- p.Ser707= Single submitter
- p.Ser819= Single submitter
- p.Thr1180Ile Single submitter
- p.Thr746= Single submitter
- p.Val1174Ile Single submitter
- p.Val1213= Single submitter
- p.Val1298Ile Single submitter
- c.241+8A>G No assertion criteria CEMIP-related disorder
- p.Ala463Thr No assertion criteria CEMIP-related disorder ⚠
- p.Ile194= No assertion criteria CEMIP-related disorder
- p.Ile478= No assertion criteria CEMIP-related disorder
- p.Leu107= No assertion criteria CEMIP-related disorder
- p.Leu1138= No assertion criteria CEMIP-related disorder
- p.Pro1045= No assertion criteria CEMIP-related disorder
- p.Pro556= No assertion criteria CEMIP-related disorder
- p.Val1193= No assertion criteria CEMIP-related disorder
Uncertain significance 176
- p.Ala33Val Multiple submitters ⚠
- p.Gly870Asp Multiple submitters ⚠
- p.Ala1312Val Single submitter ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala225Val Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala295Pro Single submitter ⚠
- p.Ala463Ser Single submitter ⚠
- p.Ala729Thr Single submitter ⚠
- p.Arg1015Gln Single submitter ⚠
- p.Arg1332Gln Single submitter ⚠
- p.Arg1332Trp Single submitter ⚠
- p.Arg206Gln Single submitter ⚠
- p.Arg206Trp Single submitter ⚠
- p.Arg298Gln Single submitter ⚠
- p.Arg298Trp Single submitter ⚠
- p.Arg357His Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg390Trp Single submitter ⚠
- p.Arg400Gln Single submitter ⚠
- p.Arg400Gly Single submitter ⚠
- p.Arg400Trp Single submitter ⚠
- p.Arg588Cys Single submitter ⚠
- p.Arg728Gln Single submitter ⚠
- p.Arg734Gln Single submitter ⚠
- p.Arg754Gln Single submitter ⚠
- p.Arg776Trp Single submitter ⚠
- p.Arg797Cys Single submitter ⚠
- p.Arg807Trp Single submitter ⚠
- p.Arg853Ser Single submitter ⚠
- p.Arg901Trp Single submitter ⚠
- p.Arg909His Single submitter ⚠
- p.Arg982Gln Single submitter ⚠
- p.Asn165Ser Single submitter ⚠
- p.Asn312Ser Single submitter ⚠
- p.Asn418Ser Single submitter ⚠
- p.Asn513His Single submitter ⚠
- p.Asn596Ser Single submitter ⚠
- p.Asn681His Single submitter ⚠
- p.Asn844Asp Single submitter ⚠
- p.Asn911His Single submitter ⚠
- p.Asp1076Asn Single submitter ⚠
- p.Asp1285Gly Single submitter ⚠
- p.Asp1313His Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp389Asn Single submitter ⚠
- p.Asp38Tyr Single submitter ⚠
- p.Asp51Asn Single submitter ⚠
- p.Asp626Tyr Single submitter ⚠
- p.Asp771Asn Single submitter ⚠
- p.Asp861Tyr Single submitter ⚠
- p.Asp8Asn Single submitter ⚠
- p.Asp953Asn Single submitter ⚠
- p.Gln1059His Single submitter ⚠
- p.Gln1115Arg Single submitter ⚠
- p.Gln133Arg Single submitter ⚠
- p.Gln304Arg Single submitter ⚠
- p.Gln44Pro Single submitter ⚠
- p.Gln550His Single submitter ⚠
- p.Gln554His Single submitter ⚠
- p.Gln790Arg Single submitter ⚠
- p.Gln7Arg Single submitter ⚠
- p.Glu1147Asp Single submitter ⚠
- p.Glu1187Lys Single submitter ⚠
- p.Glu1243Ala Single submitter ⚠
- p.Glu374Lys Single submitter ⚠
- p.Glu453Lys Single submitter ⚠
- p.Glu747Lys Single submitter ⚠
- p.Glu841Lys Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Glu967Lys Single submitter ⚠
- p.Gly104Arg Single submitter ⚠
- p.Gly104Glu Single submitter ⚠
- p.Gly1158Val Single submitter ⚠
- p.Gly1201Ala Single submitter ⚠
- p.Gly144Ala Single submitter ⚠
- p.Gly171Ala Single submitter ⚠
- p.Gly27Glu Single submitter ⚠
- p.Gly308Asp Single submitter ⚠
- p.Gly380Val Single submitter ⚠
- p.Gly479Arg Single submitter ⚠
- p.Gly49Asp Single submitter ⚠
- p.Gly533Arg Single submitter ⚠
- p.Gly569Arg Single submitter ⚠
- p.Gly594Ser Single submitter ⚠
- p.Gly799Arg Single submitter ⚠
- p.Gly864Arg Single submitter ⚠
- p.Gly963Asp Single submitter ⚠
- p.His169Tyr Single submitter ⚠
- p.His262Asn Single submitter ⚠
- p.His307Tyr Single submitter ⚠
- p.His55Tyr Single submitter ⚠
- p.His783Asn Single submitter ⚠
- p.His919Arg Single submitter ⚠
- p.His919Tyr Single submitter ⚠
- p.Ile1078Met Single submitter ⚠
- p.Ile1251Thr Single submitter ⚠
- p.Ile1334Leu Single submitter ⚠
- p.Ile190Thr Single submitter ⚠
- p.Ile202Leu Single submitter ⚠
- p.Ile781Val Single submitter ⚠
- p.Ile785Val Single submitter ⚠
- p.Leu1028Pro Single submitter ⚠
- p.Leu1093Ile Single submitter ⚠
- p.Leu1093Val Single submitter ⚠
- p.Leu151Phe Single submitter ⚠
- p.Leu532Val Single submitter ⚠
- p.Leu632His Single submitter ⚠
- p.Leu898Val Single submitter ⚠
- p.Lys410Arg Single submitter ⚠
- p.Lys535Glu Single submitter ⚠
- p.Lys723Asn Single submitter ⚠
- p.Lys751Thr Single submitter ⚠
- p.Met1016Lys Single submitter ⚠
- p.Met366Thr Single submitter ⚠
- p.Met647Ile Single submitter ⚠
- p.Met849Val Single submitter ⚠
- p.Met950Thr Single submitter ⚠
- p.Phe1090Ser Single submitter ⚠
- p.Phe1110Leu Single submitter ⚠
- p.Phe11Leu Single submitter ⚠
- p.Phe1264Ile Single submitter ⚠
- p.Phe1264Leu Single submitter ⚠
- p.Phe1277Leu Single submitter ⚠
- p.Phe401Tyr Single submitter ⚠
- p.Pro1045Arg Single submitter ⚠
- p.Pro268Ala Single submitter ⚠
- p.Pro26Ser Single submitter ⚠
- p.Pro406Arg Single submitter ⚠
- p.Pro406Ser Single submitter ⚠
- p.Pro435Arg Single submitter ⚠
- p.Pro510Ser Single submitter ⚠
- p.Pro556Leu Single submitter ⚠
- p.Pro772Leu Single submitter ⚠
- p.Pro91Leu Single submitter ⚠
- p.Pro931Leu Single submitter ⚠
- p.Ser1127Asn Single submitter ⚠
- p.Ser1242Leu Single submitter ⚠
- p.Ser645Gly Single submitter ⚠
- p.Ser761Phe Single submitter ⚠
- p.Thr1035Ile Single submitter ⚠
- p.Thr1060Met Single submitter ⚠
- p.Thr1104Met Single submitter ⚠
- p.Thr1107Met Single submitter ⚠
- p.Thr1262Arg Single submitter ⚠
- p.Thr1304Pro Single submitter ⚠
- p.Thr167Asn Single submitter ⚠
- p.Thr16Asn Single submitter ⚠
- p.Thr31Ala Single submitter ⚠
- p.Thr31Lys Single submitter ⚠
- p.Thr523Ile Single submitter ⚠
- p.Thr71Met Single submitter ⚠
- p.Thr822Ile Single submitter ⚠
- p.Thr847Met Single submitter ⚠
- p.Thr974Met Single submitter ⚠
- p.Tyr1123Cys Single submitter ⚠
- p.Tyr137His Single submitter ⚠
- p.Tyr725Cys Single submitter ⚠
- p.Val1096Ala Single submitter ⚠
- p.Val1111Met Single submitter ⚠
- p.Val1193Met Single submitter ⚠
- p.Val1250Ala Single submitter ⚠
- p.Val1298Ala Single submitter ⚠
- p.Val220Ile Single submitter ⚠
- p.Val313Ile Single submitter ⚠
- p.Val323Gly Single submitter ⚠
- p.Val430Ala Single submitter ⚠
- p.Val485Met Single submitter ⚠
- p.Val603Ile Single submitter ⚠
- p.Val604Met Single submitter ⚠
- p.Val702Ile Single submitter ⚠
- p.Val708Met Single submitter ⚠
- p.Val845Met Single submitter ⚠
- p.Val930Ile Single submitter ⚠
- p.Val965Met Single submitter ⚠