INPPL1 — 721 ClinVar variants
All ClinVar germline INPPL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 295 flagged for review →
22 Pathogenic · 3 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 8 Conflicting · 32 Benign · 11 Benign/Likely benign · 303 Likely benign · 323 Uncertain significance
Full INPPL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 295
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
INPPL1 p.Ala212Val
Conflicting
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ala973Val
Conflicting
Single submitter
Inborn genetic diseases
- INPPL1 p.Phe921Leu Conflicting Single submitter
- INPPL1 p.Pro1169His Conflicting Single submitter
-
INPPL1 p.Ser1194Gly
Conflicting
Single submitter
Inborn genetic diseases
-
INPPL1 p.Thr569Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 226
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 226
-
INPPL1 p.Ala1245Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Ala212Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1078Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1086His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1142Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1156Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1156Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1164Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg1172His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- INPPL1 p.Arg1174Gln Uncertain significance Multiple submitters
-
INPPL1 p.Arg1174Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg129Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg198Lys
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Arg209Cys
Uncertain significance
Multiple submitters
opsismodysplasia
- INPPL1 p.Arg209His Uncertain significance Multiple submitters
-
INPPL1 p.Arg216Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg350Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg372Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg387Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg571Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg598Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg873Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg878Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg878His
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Arg907Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg90Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Arg953Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Asn865Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Gln1153His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Glu1198Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Glu936Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Gly1082Arg
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Gly1157Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Gly1195Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Gly199Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Leu1188Arg
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Leu1254Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Pro1091Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Pro1186Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- INPPL1 p.Pro123Leu Uncertain significance Multiple submitters
-
INPPL1 p.Pro698Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Pro938Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Pro952Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Pro999Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Thr213Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Thr333Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Thr805Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Ala1023Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ala1085Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ala1114Gly Uncertain significance Single submitter
-
INPPL1 p.Ala112Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ala1138Pro Uncertain significance Single submitter
-
INPPL1 p.Ala1144Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ala1144Val Uncertain significance Single submitter
- INPPL1 p.Ala1199Ser Uncertain significance Single submitter
-
INPPL1 p.Ala1245Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ala170Gly Uncertain significance Single submitter
-
INPPL1 p.Ala201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ala7Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ala920Val
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg1030Trp Uncertain significance Single submitter
- INPPL1 p.Arg1033Cys Uncertain significance Single submitter
-
INPPL1 p.Arg1033His
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg1078Trp Uncertain significance Single submitter
-
INPPL1 p.Arg1086Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg1086Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg1086Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg1119Trp Uncertain significance Single submitter
- INPPL1 p.Arg1142Cys Uncertain significance Single submitter
-
INPPL1 p.Arg1156Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg1156Pro Uncertain significance Single submitter
- INPPL1 p.Arg1174Trp Uncertain significance Single submitter
- INPPL1 p.Arg1206Gln Uncertain significance Single submitter
-
INPPL1 p.Arg1212His
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg121Pro Uncertain significance Single submitter
- INPPL1 p.Arg144Cys Uncertain significance Single submitter
-
INPPL1 p.Arg302Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg342Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg350Gln Uncertain significance Single submitter
- INPPL1 p.Arg363His Uncertain significance Single submitter
- INPPL1 p.Arg387Gln Uncertain significance Single submitter
-
INPPL1 p.Arg479His
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg581Gln Uncertain significance Single submitter
- INPPL1 p.Arg611His Uncertain significance Single submitter
-
INPPL1 p.Arg633Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg649Gln Uncertain significance Single submitter
- INPPL1 p.Arg662His Uncertain significance Single submitter
- INPPL1 p.Arg665Gln Uncertain significance Single submitter
- INPPL1 p.Arg665Leu Uncertain significance Single submitter
-
INPPL1 p.Arg668Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg691Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg70Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg801Cys Uncertain significance Single submitter
- INPPL1 p.Arg801His Uncertain significance Single submitter
- INPPL1 p.Arg917His Uncertain significance Single submitter
- INPPL1 p.Arg91His Uncertain significance Single submitter
- INPPL1 p.Arg949Gln Uncertain significance Single submitter
- INPPL1 p.Arg953Pro Uncertain significance Single submitter
- INPPL1 p.Asn176Ser Uncertain significance Single submitter
-
INPPL1 p.Asn413Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asn441Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asn575Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asn705Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asp1243Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Asp362Asn Uncertain significance Single submitter
- INPPL1 p.Asp77Glu Uncertain significance Single submitter
- INPPL1 p.Asp894Glu Uncertain significance Single submitter
-
INPPL1 p.Cys59Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gln17Leu Uncertain significance Single submitter
- INPPL1 p.Gln850Arg Uncertain significance Single submitter
- INPPL1 p.Glu1000Lys Uncertain significance Single submitter
- INPPL1 p.Glu33Lys Uncertain significance Single submitter
-
INPPL1 p.Gly1027Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Gly1035Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gly1081Arg Uncertain significance Single submitter
-
INPPL1 p.Gly1190Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gly1195Arg Uncertain significance Single submitter
- INPPL1 p.Gly1221Ser Uncertain significance Single submitter
- INPPL1 p.Gly12Ser Uncertain significance Single submitter
- INPPL1 p.Gly146Ser Uncertain significance Single submitter
-
INPPL1 p.Gly155Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gly341Arg Uncertain significance Single submitter
-
INPPL1 p.Gly6Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Gly846Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Gly9Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gly9Asp Uncertain significance Single submitter
-
INPPL1 p.His1029Gln
Uncertain significance
Single submitter
opsismodysplasia
- INPPL1 p.His1246Leu Uncertain significance Single submitter
-
INPPL1 p.His601Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.His718Tyr Uncertain significance Single submitter
- INPPL1 p.Ile150Thr Uncertain significance Single submitter
-
INPPL1 p.Ile466Asn
Uncertain significance
Single submitter
opsismodysplasia
-
INPPL1 p.Ile655Phe
Uncertain significance
Single submitter
opsismodysplasia
- INPPL1 p.Ile99Phe Uncertain significance Single submitter
- INPPL1 p.Leu1048Val Uncertain significance Single submitter
-
INPPL1 p.Leu1065Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Leu1099Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Leu109Val Uncertain significance Single submitter
- INPPL1 p.Leu1158Arg Uncertain significance Single submitter
- INPPL1 p.Leu1225Val Uncertain significance Single submitter
-
INPPL1 p.Leu334Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Leu455Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Leu602Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Leu739Phe Uncertain significance Single submitter
- INPPL1 p.Leu774Pro Uncertain significance Single submitter
- INPPL1 p.Lys1016Arg Uncertain significance Single submitter
- INPPL1 p.Lys490Arg Uncertain significance Single submitter
- INPPL1 p.Lys736Glu Uncertain significance Single submitter
- INPPL1 p.Lys795Arg Uncertain significance Single submitter
-
INPPL1 p.Lys918Gln
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 63
The independent predictors disagree with each other — read with care.
-
INPPL1 p.Arg363Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Asn520Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Leu1250Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- INPPL1 p.Leu632Ile Benign Multiple submitters
-
INPPL1 p.Lys305Asn
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Thr358Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INPPL1 p.Val117Ile
Uncertain significance
Multiple submitters
opsismodysplasia
-
INPPL1 p.Arg1206Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg216Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg350Pro Uncertain significance Single submitter
- INPPL1 p.Arg390Cys Uncertain significance Single submitter
-
INPPL1 p.Arg390His
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Arg486His
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Arg498His Uncertain significance Single submitter
- INPPL1 p.Arg641Gln Uncertain significance Single submitter
-
INPPL1 p.Arg682Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asn106Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asn638Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Asp48Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gln371His Uncertain significance Single submitter
- INPPL1 p.Gln418His Uncertain significance Single submitter
- INPPL1 p.Glu1132Lys Uncertain significance Single submitter
-
INPPL1 p.Glu1175Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Glu420Lys Uncertain significance Single submitter
-
INPPL1 p.Glu887Lys
Likely pathogenic
Single submitter
opsismodysplasia
- INPPL1 p.Gly228Val Uncertain significance Single submitter
-
INPPL1 p.Gly429Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Gly991Arg Uncertain significance Single submitter
- INPPL1 p.Ile1177Ser Uncertain significance Single submitter
- INPPL1 p.Ile394Phe Uncertain significance Single submitter
- INPPL1 p.Ile813Thr Uncertain significance Single submitter
- INPPL1 p.Leu232Met Uncertain significance Single submitter
-
INPPL1 p.Leu34Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Leu562Phe Uncertain significance Single submitter
-
INPPL1 p.Lys325Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Phe332Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Phe393Leu Uncertain significance Single submitter
-
INPPL1 p.Phe550Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Phe605Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Phe628Tyr Uncertain significance Single submitter
-
INPPL1 p.Phe78Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Phe78Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Pro1050Leu Uncertain significance Single submitter
-
INPPL1 p.Pro1054Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Pro1054Leu Uncertain significance Single submitter
- INPPL1 p.Pro1055Ser Uncertain significance Single submitter
- INPPL1 p.Pro105Arg Uncertain significance Single submitter
-
INPPL1 p.Pro105His
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Pro105Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Pro143Leu Uncertain significance Single submitter
-
INPPL1 p.Pro308Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Pro993Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ser182Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
INPPL1 p.Ser214Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ser240Arg Uncertain significance Single submitter
-
INPPL1 p.Ser584Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Ser624Arg Uncertain significance Single submitter
-
INPPL1 p.Thr772Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Tyr986Cys Uncertain significance Single submitter
- INPPL1 p.Val796Leu Uncertain significance Single submitter
-
INPPL1 p.Val87Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- INPPL1 p.Val87Met Uncertain significance Single submitter
- INPPL1 p.Val336Met Uncertain significance No assertion criteria
All INPPL1 variants
Pathogenic 22
- p.Arg949Ter Multiple submitters INPPL1-related disorders
- p.Glu32fs Multiple submitters opsismodysplasia
- c.939+1G>A Single submitter opsismodysplasia
- p.Arg1212_Tyr1213insTer Single submitter
- p.Gln1189Ter Single submitter
- p.Gln259fs Single submitter
- p.Gly327fs Single submitter
- p.Leu1188fs Single submitter opsismodysplasia
- p.Leu268fs Single submitter
- p.Phe852_Leu853insTer Single submitter
- p.Pro1075fs Single submitter
- p.Pro977fs Single submitter
- p.Thr1129fs Single submitter
- p.Tyr102Ter Single submitter opsismodysplasia
- p.Tyr1135Ter Single submitter
- c.2415+1G>A No assertion criteria opsismodysplasia
- p.Arg401Trp No assertion criteria opsismodysplasia
- p.Arg691Trp No assertion criteria opsismodysplasia
- p.Gln93fs No assertion criteria opsismodysplasia
- p.Ile616fs No assertion criteria opsismodysplasia
- p.Phe722Ile No assertion criteria opsismodysplasia
- p.Pro659Ser No assertion criteria opsismodysplasia
Pathogenic/Likely pathogenic 3
- c.2213-2A>C Multiple submitters opsismodysplasia
- p.Arg649Ter Multiple submitters opsismodysplasia
- p.Glu258fs Multiple submitters INPPL1-related disorders
Likely pathogenic 19
- c.182+1G>A Single submitter
- c.2213-189_2270del Single submitter
- c.2503+2T>C Single submitter
- c.518+1G>T Single submitter opsismodysplasia
- c.519-1_519inv Single submitter
- p.Arg1156fs Single submitter opsismodysplasia
- p.Gln786Ter Single submitter opsismodysplasia
- p.Glu1184fs Single submitter opsismodysplasia
- p.Glu887Lys Single submitter opsismodysplasia ⚠
- p.Gly39fs Single submitter opsismodysplasia
- p.Gly9fs Single submitter opsismodysplasia
- p.Lys645Ter Single submitter opsismodysplasia
- p.Pro1032fs Single submitter
- p.Pro1097fs Single submitter INPPL1-related disorders
- p.Pro659Leu Single submitter opsismodysplasia
- p.Ser182Ter Single submitter opsismodysplasia
- p.Ser425Ter Single submitter INPPL1-related disorders
- p.Tyr671Ter Single submitter opsismodysplasia
- p.Val396fs Single submitter opsismodysplasia
Conflicting classifications of pathogenicity 8
- c.247-6C>T Single submitter
- p.Ala212Val Single submitter Inborn genetic diseases ⚠
- p.Ala973Val Single submitter Inborn genetic diseases ⚠
- p.Phe921Leu Single submitter ⚠
- p.Pro1169His Single submitter ⚠
- p.Ser1194Gly Single submitter Inborn genetic diseases ⚠
- p.Ser448Leu Single submitter
- p.Thr569Met Single submitter Inborn genetic diseases ⚠
Benign 32
- c.1091-25A>G Multiple submitters opsismodysplasia
- c.1198-153T>C Multiple submitters
- c.1198-28C>T Multiple submitters
- c.1497+27C>A Multiple submitters
- c.182+18_182+45del Multiple submitters
- c.2040+35C>T Multiple submitters
- c.2504-7T>C Multiple submitters
- c.2880-16C>T Multiple submitters
- c.3553-22C>G Multiple submitters
- c.518+14C>G Multiple submitters opsismodysplasia
- c.753+31G>A Multiple submitters
- c.*268G>C Multiple submitters
- p.Ala1083Gly Multiple submitters
- p.Asp456= Multiple submitters
- p.Leu631= Multiple submitters
- p.Leu632Ile Multiple submitters ⚠
- p.Pro153= Multiple submitters
- p.Ser329= Multiple submitters opsismodysplasia
- p.Ser740= Multiple submitters
- p.Val426= Multiple submitters
- c.1198-3del Single submitter
- c.1497+11dup Single submitter
- c.1712+9dup Single submitter
- c.182+220A>G Single submitter
- c.2213-180C>T Single submitter
- c.2415+101AG[10] Single submitter
- c.2415+118_2415+119insAGTGTG Single submitter
- c.2415+118GT[15] Single submitter
- c.2415+118GT[17] Single submitter
- c.2415+118GT[19] Single submitter
- c.2738+8dup Single submitter
- c.518+11dup Single submitter
Benign/Likely benign 11
- c.1497+11del Multiple submitters
- c.1497+7G>A Multiple submitters
- c.1713-16G>A Multiple submitters
- c.3686+14T>C Multiple submitters
- c.659+21del Multiple submitters
- p.Arg1164Gln Multiple submitters
- p.Arg1172Cys Multiple submitters
- p.Leu343= Multiple submitters
- p.Lys303Asn Multiple submitters opsismodysplasia
- p.Pro1098= Multiple submitters
- p.Pro126= Multiple submitters
Likely benign 303
Showing the top 300 by review status; the full set is in the sitemap.
- c.1090+43C>T Multiple submitters
- c.1497+10G>T Multiple submitters
- c.1712+10C>T Multiple submitters
- c.1952-26C>T Multiple submitters
- c.2122+14G>A Multiple submitters
- c.2879+15del Multiple submitters
- c.2879+52A>G Multiple submitters
- c.2880-20C>T Multiple submitters
- c.3552+18dup Multiple submitters
- c.518+8C>A Multiple submitters
- c.753+47T>C Multiple submitters
- c.754-4C>G Multiple submitters
- c.844-7C>G Multiple submitters
- c.-74G>C Multiple submitters
- p.Gly1195= Multiple submitters
- p.Gly12= Multiple submitters opsismodysplasia
- p.Gly155= Multiple submitters opsismodysplasia
- p.Ile845= Multiple submitters
- p.Leu1217= Multiple submitters
- p.Leu1236= Multiple submitters
- p.Leu320= Multiple submitters
- p.Leu407= Multiple submitters
- p.Leu608= Multiple submitters
- p.Lys764= Multiple submitters
- p.Lys807= Multiple submitters
- p.Phe56= Multiple submitters
- p.Ser182= Multiple submitters
- p.Ser335= Multiple submitters
- p.Ser448= Multiple submitters
- p.Tyr22= Multiple submitters
- p.Val197= Multiple submitters
- c.1090+20G>C Single submitter
- c.1091-17G>A Single submitter
- c.1091-5C>T Single submitter
- c.1197+8G>A Single submitter
- c.1198-10G>C Single submitter
- c.1198-144C>G Single submitter
- c.1198-5C>T Single submitter
- c.1198-7C>A Single submitter
- c.1198-7C>T Single submitter
- c.1300+10G>A Single submitter
- c.1300+10G>C Single submitter
- c.1300+10GGGCTG[3] Single submitter
- c.1300+12G>A Single submitter
- c.1300+12G>C Single submitter
- c.1300+9C>T Single submitter
- c.1301-16C>T Single submitter
- c.1301-20C>T Single submitter
- c.1301-8A>C Single submitter
- c.1301-9C>T Single submitter
- c.1497+13C>G Single submitter
- c.1497+16C>G Single submitter
- c.1497+9G>T Single submitter
- c.1498-11T>A Single submitter
- c.1615+14G>C Single submitter
- c.1615+20G>A Single submitter
- c.1615+283A>G Single submitter
- c.1615+57G>A Single submitter
- c.1616-137T>G Single submitter
- c.1616-162del Single submitter
- c.1712+11G>A Single submitter
- c.1712+12C>T Single submitter
- c.1712+17C>T Single submitter
- c.1712+7G>C Single submitter
- c.1713-12C>A Single submitter
- c.1713-17C>T Single submitter
- c.1713-6C>A Single submitter
- c.183-14T>C Single submitter
- c.183-19G>C Single submitter
- c.1851+13C>G Single submitter
- c.1851+13C>T Single submitter
- c.1852-11C>G Single submitter
- c.1852-11C>T Single submitter
- c.1852-16G>T Single submitter
- c.1852-17dup Single submitter
- c.1852-8C>T Single submitter
- c.1951+15G>A Single submitter
- c.1951+20G>A Single submitter
- c.2040+15C>T Single submitter
- c.2040+16G>A Single submitter
- c.2040+8A>C Single submitter
- c.2041-20G>C Single submitter
- c.2041-61G>A Single submitter
- c.2122+11C>A Single submitter
- c.2123-10C>T Single submitter
- c.2123-15A>C Single submitter
- c.2212+16A>G Single submitter
- c.2213-13C>T Single submitter
- c.2213-14C>T Single submitter
- c.2213-15_2213-13del Single submitter
- c.2213-19C>T Single submitter
- c.2213-6C>T Single submitter
- c.2326+10G>A Single submitter
- c.2327-12C>A Single submitter
- c.2415+101AG[11] Single submitter
- c.2415+118_2415+119insAGTG Single submitter
- c.2415+118_2415+119insAGTGTGTGTG Single submitter
- c.246+7del Single submitter
- c.247-15C>G Single submitter
- c.2504-6C>T Single submitter
- c.2504-9G>A Single submitter
- c.2659+13C>A Single submitter
- c.2660-12C>T Single submitter
- c.2660-14_2660-11del Single submitter
- c.2660-5C>G Single submitter
- c.2738+11G>A Single submitter
- c.2738+16G>A Single submitter
- c.2738+20A>G Single submitter
- c.2738+9G>A Single submitter
- c.2739-20C>G Single submitter
- c.2739-9C>T Single submitter
- c.2879+14C>T Single submitter
- c.2879+239G>A Single submitter
- c.2879+7G>A Single submitter
- c.2880-13C>T Single submitter
- c.2880-19G>A Single submitter
- c.2880-9C>T Single submitter
- c.3552+8G>C Single submitter
- c.3552+9A>G Single submitter
- c.3553-12C>T Single submitter
- c.3553-18C>T Single submitter
- c.3686+15G>A Single submitter
- c.3686+17_3686+34dup Single submitter
- c.3687-16C>T Single submitter
- c.397+53G>T Single submitter
- c.397+7C>G Single submitter
- c.397+8C>T Single submitter
- c.397+9del Single submitter
- c.398-12C>T Single submitter
- c.518+15C>G Single submitter
- c.518+19C>G Single submitter
- c.518+7C>A Single submitter
- c.518+7C>T Single submitter
- c.518+9C>G Single submitter
- c.659+64C>T Single submitter
- c.660-11G>A Single submitter
- c.753+11G>A Single submitter
- c.753+18C>A Single submitter
- c.754-4C>A Single submitter
- c.843+7T>C Single submitter
- c.844-7C>T Single submitter
- c.844-8C>G Single submitter
- c.939+16G>A Single submitter
- c.940-20C>T Single submitter
- p.Ala1023= Single submitter
- p.Ala112= Single submitter
- p.Ala168= Single submitter
- p.Ala293= Single submitter
- p.Ala36= Single submitter
- p.Ala501= Single submitter
- p.Ala511= Single submitter
- p.Ala902= Single submitter
- p.Ala924= Single submitter
- p.Ala973= Single submitter
- p.Ala974= Single submitter
- p.Arg1119= Single submitter
- p.Arg1142= Single submitter
- p.Arg1164= Single submitter
- p.Arg37= Single submitter
- p.Arg479= Single submitter
- p.Arg486= Single submitter
- p.Arg691= Single submitter
- p.Arg859= Single submitter
- p.Asn1015= Single submitter
- p.Asn106= Single submitter
- p.Asn1220= Single submitter
- p.Asn441= Single submitter
- p.Asn609= Single submitter
- p.Asp1118= Single submitter
- p.Asp1224= Single submitter
- p.Asp1243= Single submitter
- p.Asp136= Single submitter
- p.Asp613= Single submitter
- p.Asp829= Single submitter
- p.Cys111= Single submitter
- p.Cys215= Single submitter
- p.Cys405= Single submitter
- p.Cys709= Single submitter
- p.Gln1153= Single submitter
- p.Gln1255= Single submitter
- p.Gln349= Single submitter
- p.Glu1151= Single submitter
- p.Glu517= Single submitter
- p.Glu640= Single submitter
- p.Glu936= Single submitter
- p.Gly1074= Single submitter
- p.Gly11= Single submitter
- p.Gly1139= Single submitter
- p.Gly1148= Single submitter
- p.Gly1163= Single submitter
- p.Gly1197= Single submitter
- p.Gly146= Single submitter
- p.Gly15= Single submitter
- p.Gly477= Single submitter
- p.Gly487= Single submitter
- p.Gly542= Single submitter
- p.Gly545= Single submitter
- p.Gly586= Single submitter
- p.Gly860= Single submitter
- p.Gly868= Single submitter
- p.His1028= Single submitter
- p.His1094= Single submitter
- p.His183= Single submitter
- p.His203= Single submitter
- p.His518= Single submitter
- p.His561= Single submitter
- p.His644= Single submitter
- p.His65= Single submitter
- p.His820= Single submitter
- p.Ile1208= Single submitter
- p.Ile1231= Single submitter
- p.Ile307= Single submitter
- p.Ile364= Single submitter
- p.Ile394= Single submitter
- p.Ile466= Single submitter
- p.Ile579= Single submitter
- p.Ile595= Single submitter
- p.Ile692= Single submitter
- p.Ile713= Single submitter
- p.Ile753= Single submitter
- p.Ile813= Single submitter
- p.Ile99= Single submitter
- p.Leu101= Single submitter
- p.Leu1026= Single submitter
- p.Leu1065= Single submitter
- p.Leu1069= Single submitter
- p.Leu109= Single submitter
- p.Leu1124= Single submitter
- p.Leu114= Single submitter
- p.Leu141= Single submitter
- p.Leu266= Single submitter
- p.Leu286= Single submitter
- p.Leu316= Single submitter
- p.Leu334= Single submitter
- p.Leu484= Single submitter
- p.Leu485= Single submitter
- p.Leu505= Single submitter
- p.Leu580= Single submitter
- p.Leu612= Single submitter
- p.Leu639= Single submitter
- p.Lys531= Single submitter
- p.Phe44= Single submitter
- p.Phe603= Single submitter
- p.Phe733= Single submitter
- p.Pro1002= Single submitter
- p.Pro1024= Single submitter
- p.Pro1059= Single submitter
- p.Pro1066Ser Single submitter Inborn genetic diseases
- p.Pro1073= Single submitter
- p.Pro1095= Single submitter
- p.Pro1159= Single submitter
- p.Pro143= Single submitter
- p.Pro175= Single submitter
- p.Pro242= Single submitter
- p.Pro308= Single submitter
- p.Pro421= Single submitter
- p.Pro720= Single submitter
- p.Pro804= Single submitter
- p.Pro927= Single submitter
- p.Pro938= Single submitter
- p.Pro993= Single submitter
- p.Pro999= Single submitter
- p.Ser1003= Single submitter
- p.Ser1104= Single submitter
- p.Ser1122= Single submitter
- p.Ser1131= Single submitter
- p.Ser1160= Single submitter
- p.Ser16= Single submitter
- p.Ser241= Single submitter
- p.Ser290= Single submitter
- p.Ser564= Single submitter
- p.Ser584= Single submitter
- p.Ser624= Single submitter
- p.Ser84= Single submitter
- p.Ser847= Single submitter
- p.Ser914= Single submitter
- p.Thr1129= Single submitter
- p.Thr1232= Single submitter
- p.Thr1253= Single submitter
- p.Thr148= Single submitter
- p.Thr165= Single submitter
- p.Thr180= Single submitter
- p.Thr213= Single submitter
- p.Thr245= Single submitter
- p.Thr357= Single submitter
- p.Thr447= Single submitter
- p.Thr527= Single submitter
- p.Thr68= Single submitter
- p.Thr700= Single submitter
- p.Thr730= Single submitter
- p.Thr759= Single submitter
- p.Thr941= Single submitter
- p.Thr958= Single submitter
- p.Tyr102= Single submitter
- p.Tyr576= Single submitter
- p.Tyr671= Single submitter
- p.Tyr770= Single submitter
- p.Val1021= Single submitter
- p.Val721= Single submitter
- p.Val89= Single submitter
Uncertain significance 323
Showing the top 300 by review status; the full set is in the sitemap.
- c.2326+9C>T Multiple submitters opsismodysplasia
- c.3551_3552+1del Multiple submitters opsismodysplasia
- c.3686+3G>T Multiple submitters
- c.754-3C>T Multiple submitters
- p.Ala1245Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala212Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1078Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1086His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1142Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg1156Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg1156Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1164Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1172His Multiple submitters Inborn genetic diseases ⚠
- p.Arg1174Gln Multiple submitters ⚠
- p.Arg1174Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg129Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg198Lys Multiple submitters opsismodysplasia ⚠
- p.Arg209Cys Multiple submitters opsismodysplasia ⚠
- p.Arg209His Multiple submitters ⚠
- p.Arg216Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg350Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg363Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg372Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg387Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg571Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg598Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg873Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg878Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg878His Multiple submitters opsismodysplasia ⚠
- p.Arg907Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg90Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg953Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn520Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn865Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln1153His Multiple submitters Inborn genetic diseases ⚠
- p.Glu1198Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu936Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly1082Arg Multiple submitters opsismodysplasia ⚠
- p.Gly1157Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly1195Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly199Asp Multiple submitters Inborn genetic diseases ⚠
- p.Leu1188Arg Multiple submitters opsismodysplasia ⚠
- p.Leu1250Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu1254Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys305Asn Multiple submitters opsismodysplasia ⚠
- p.Phe332_Leu334delinsLeuMetTrp Multiple submitters
- p.Pro1091Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro1186Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro123Leu Multiple submitters ⚠
- p.Pro698Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro938Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro952Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro999Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr213Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr333Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr358Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr805Met Multiple submitters Inborn genetic diseases ⚠
- p.Val117Ile Multiple submitters opsismodysplasia ⚠
- c.1090+6C>T Single submitter
- c.1198-3C>T Single submitter
- c.1497+5G>C Single submitter opsismodysplasia
- c.1498-12CT[2] Single submitter
- c.1615+4A>G Single submitter
- c.2122+3C>T Single submitter
- c.2122+3del Single submitter
- c.2659+6G>T Single submitter
- c.2879+3G>A Single submitter
- c.3687-3_3687-2del Single submitter
- p.Ala1023Val Single submitter Inborn genetic diseases ⚠
- p.Ala1085Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1114Gly Single submitter ⚠
- p.Ala112Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1138Pro Single submitter ⚠
- p.Ala1144Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1144Val Single submitter ⚠
- p.Ala1199Ser Single submitter ⚠
- p.Ala1245Thr Single submitter Inborn genetic diseases ⚠
- p.Ala170Gly Single submitter ⚠
- p.Ala201Thr Single submitter Inborn genetic diseases ⚠
- p.Ala7Val Single submitter Inborn genetic diseases ⚠
- p.Ala920Val Single submitter Inborn genetic diseases ⚠
- p.Arg1030Trp Single submitter ⚠
- p.Arg1033Cys Single submitter ⚠
- p.Arg1033His Single submitter Inborn genetic diseases ⚠
- p.Arg1078Trp Single submitter ⚠
- p.Arg1080_Gly1087del Single submitter
- p.Arg1086Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1086Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1086Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1119Trp Single submitter ⚠
- p.Arg1142Cys Single submitter ⚠
- p.Arg1156Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1156Pro Single submitter ⚠
- p.Arg1174Trp Single submitter ⚠
- p.Arg1206Gln Single submitter ⚠
- p.Arg1206Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1212His Single submitter Inborn genetic diseases ⚠
- p.Arg121Pro Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg216Trp Single submitter Inborn genetic diseases ⚠
- p.Arg302Cys Single submitter Inborn genetic diseases ⚠
- p.Arg342Gln Single submitter Inborn genetic diseases ⚠
- p.Arg350Gln Single submitter ⚠
- p.Arg350Pro Single submitter ⚠
- p.Arg363His Single submitter ⚠
- p.Arg365Cys Single submitter
- p.Arg365His Single submitter Inborn genetic diseases
- p.Arg372His Single submitter
- p.Arg387Gln Single submitter ⚠
- p.Arg390= Single submitter
- p.Arg390Cys Single submitter ⚠
- p.Arg390His Single submitter Inborn genetic diseases ⚠
- p.Arg399Gln Single submitter Inborn genetic diseases
- p.Arg479His Single submitter Inborn genetic diseases ⚠
- p.Arg486His Single submitter Inborn genetic diseases ⚠
- p.Arg498His Single submitter ⚠
- p.Arg581Gln Single submitter ⚠
- p.Arg611His Single submitter ⚠
- p.Arg633Lys Single submitter Inborn genetic diseases ⚠
- p.Arg641Gln Single submitter ⚠
- p.Arg649Gln Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg665Gln Single submitter ⚠
- p.Arg665Leu Single submitter ⚠
- p.Arg668Gln Single submitter Inborn genetic diseases ⚠
- p.Arg682Gln Single submitter Inborn genetic diseases ⚠
- p.Arg691Gln Single submitter Inborn genetic diseases ⚠
- p.Arg70Cys Single submitter Inborn genetic diseases ⚠
- p.Arg801Cys Single submitter ⚠
- p.Arg801His Single submitter ⚠
- p.Arg917His Single submitter ⚠
- p.Arg91Cys Single submitter
- p.Arg91His Single submitter ⚠
- p.Arg949Gln Single submitter ⚠
- p.Arg953Pro Single submitter ⚠
- p.Asn106Thr Single submitter Inborn genetic diseases ⚠
- p.Asn1220Ser Single submitter
- p.Asn176Ser Single submitter ⚠
- p.Asn413Ser Single submitter Inborn genetic diseases ⚠
- p.Asn441Thr Single submitter Inborn genetic diseases ⚠
- p.Asn575Ser Single submitter Inborn genetic diseases ⚠
- p.Asn638Ile Single submitter Inborn genetic diseases ⚠
- p.Asn705Ser Single submitter Inborn genetic diseases ⚠
- p.Asn790del Single submitter
- p.Asp1243Asn Single submitter Inborn genetic diseases ⚠
- p.Asp362Asn Single submitter ⚠
- p.Asp48Asn Single submitter Inborn genetic diseases ⚠
- p.Asp77Glu Single submitter ⚠
- p.Asp894Glu Single submitter ⚠
- p.Cys59Gly Single submitter Inborn genetic diseases ⚠
- p.Gln17Leu Single submitter ⚠
- p.Gln251= Single submitter
- p.Gln371His Single submitter ⚠
- p.Gln418His Single submitter ⚠
- p.Gln850Arg Single submitter ⚠
- p.Glu1000Lys Single submitter ⚠
- p.Glu1132Lys Single submitter ⚠
- p.Glu1175Lys Single submitter Inborn genetic diseases ⚠
- p.Glu33Lys Single submitter ⚠
- p.Glu420Lys Single submitter ⚠
- p.Glu76del Single submitter
- p.Gly1027Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1035Glu Single submitter Inborn genetic diseases ⚠
- p.Gly1081Arg Single submitter ⚠
- p.Gly1190Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1195Arg Single submitter ⚠
- p.Gly1197Val Single submitter
- p.Gly1221Ser Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly155Glu Single submitter Inborn genetic diseases ⚠
- p.Gly228Val Single submitter ⚠
- p.Gly341Arg Single submitter ⚠
- p.Gly429Ser Single submitter Inborn genetic diseases ⚠
- p.Gly6Ala Single submitter Inborn genetic diseases ⚠
- p.Gly846Ser Single submitter Inborn genetic diseases ⚠
- p.Gly991Arg Single submitter ⚠
- p.Gly9Ala Single submitter Inborn genetic diseases ⚠
- p.Gly9Asp Single submitter ⚠
- p.His1029Gln Single submitter opsismodysplasia ⚠
- p.His1246Leu Single submitter ⚠
- p.His601Asn Single submitter Inborn genetic diseases ⚠
- p.His718Tyr Single submitter ⚠
- p.Ile1177Ser Single submitter ⚠
- p.Ile150Thr Single submitter ⚠
- p.Ile394Phe Single submitter ⚠
- p.Ile466Asn Single submitter opsismodysplasia ⚠
- p.Ile655Phe Single submitter opsismodysplasia ⚠
- p.Ile813Thr Single submitter ⚠
- p.Ile99Phe Single submitter ⚠
- p.Leu1048Val Single submitter ⚠
- p.Leu1065Arg Single submitter Inborn genetic diseases ⚠
- p.Leu1099Arg Single submitter Inborn genetic diseases ⚠
- p.Leu109Val Single submitter ⚠
- p.Leu1158Arg Single submitter ⚠
- p.Leu1225Val Single submitter ⚠
- p.Leu141Met Single submitter
- p.Leu232Met Single submitter ⚠
- p.Leu334Arg Single submitter Inborn genetic diseases ⚠
- p.Leu34Arg Single submitter Inborn genetic diseases ⚠
- p.Leu455Val Single submitter Inborn genetic diseases ⚠
- p.Leu562Phe Single submitter ⚠
- p.Leu602Phe Single submitter Inborn genetic diseases ⚠
- p.Leu739Phe Single submitter ⚠
- p.Leu774Pro Single submitter ⚠
- p.Lys1014Glu Single submitter
- p.Lys1016Arg Single submitter ⚠
- p.Lys325Asn Single submitter Inborn genetic diseases ⚠
- p.Lys490Arg Single submitter ⚠
- p.Lys736Glu Single submitter ⚠
- p.Lys795Arg Single submitter ⚠
- p.Lys918Gln Single submitter Inborn genetic diseases ⚠
- p.Met1201Leu Single submitter ⚠
- p.Met614Val Single submitter ⚠
- p.Phe332Leu Single submitter Inborn genetic diseases ⚠
- p.Phe393Leu Single submitter ⚠
- p.Phe404Leu Single submitter Inborn genetic diseases ⚠
- p.Phe548del Single submitter
- p.Phe550Cys Single submitter Inborn genetic diseases ⚠
- p.Phe605Leu Single submitter Inborn genetic diseases ⚠
- p.Phe628Tyr Single submitter ⚠
- p.Phe78Leu Single submitter Inborn genetic diseases ⚠
- p.Phe78Ser Single submitter Inborn genetic diseases ⚠
- p.Phe932Leu Single submitter Inborn genetic diseases
- p.Pro1049His Single submitter Inborn genetic diseases ⚠
- p.Pro1050Leu Single submitter ⚠
- p.Pro1054Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1054Leu Single submitter ⚠
- p.Pro1055Ser Single submitter ⚠
- p.Pro105Arg Single submitter ⚠
- p.Pro105His Single submitter Inborn genetic diseases ⚠
- p.Pro105Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1066Ala Single submitter ⚠
- p.Pro1067Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1071Ser Single submitter ⚠
- p.Pro1075Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1089Thr Single submitter Inborn genetic diseases ⚠
- p.Pro10Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1101Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1105Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1154Arg Single submitter opsismodysplasia ⚠
- p.Pro1154Ser Single submitter Inborn genetic diseases ⚠
- p.Pro1244Ala Single submitter Inborn genetic diseases ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro143Leu Single submitter ⚠
- p.Pro242Ser Single submitter opsismodysplasia ⚠
- p.Pro295Ser Single submitter Inborn genetic diseases ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro308Ala Single submitter Inborn genetic diseases ⚠
- p.Pro308Leu Single submitter Inborn genetic diseases ⚠
- p.Pro437Thr Single submitter ⚠
- p.Pro438Leu Single submitter Inborn genetic diseases ⚠
- p.Pro499Leu Single submitter Inborn genetic diseases ⚠
- p.Pro630His Single submitter ⚠
- p.Pro678Leu Single submitter ⚠
- p.Pro903Ser Single submitter ⚠
- p.Pro945Ala Single submitter Inborn genetic diseases ⚠
- p.Pro945Leu Single submitter Inborn genetic diseases ⚠
- p.Pro947Ser Single submitter opsismodysplasia ⚠
- p.Pro956Leu Single submitter Inborn genetic diseases ⚠
- p.Pro976Gln Single submitter ⚠
- p.Pro993Arg Single submitter Inborn genetic diseases ⚠
- p.Pro998Ser Single submitter Inborn genetic diseases ⚠
- p.Pro998Thr Single submitter Inborn genetic diseases ⚠
- p.Pro999Leu Single submitter ⚠
- p.Ser1003Leu Single submitter ⚠
- p.Ser1061Leu Single submitter Inborn genetic diseases ⚠
- p.Ser1143Pro Single submitter ⚠
- p.Ser1160Trp Single submitter ⚠
- p.Ser1202Cys Single submitter Inborn genetic diseases ⚠
- p.Ser145Pro Single submitter ⚠
- p.Ser16Asn Single submitter ⚠
- p.Ser182Leu Single submitter Inborn genetic diseases ⚠
- p.Ser214Leu Single submitter Inborn genetic diseases ⚠
- p.Ser240Arg Single submitter ⚠
- p.Ser269Leu Single submitter Inborn genetic diseases
- p.Ser526Ile Single submitter ⚠
- p.Ser554Pro Single submitter ⚠
- p.Ser564Leu Single submitter Inborn genetic diseases ⚠
- p.Ser584Leu Single submitter Inborn genetic diseases ⚠
- p.Ser624Arg Single submitter ⚠
- p.Ser651Ile Single submitter ⚠
- p.Ser925Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1129Met Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr180Ala Single submitter ⚠
- p.Thr245Ile Single submitter Inborn genetic diseases
- p.Thr493Met Single submitter ⚠
- p.Thr68Met Single submitter Inborn genetic diseases ⚠
- p.Thr742Ile Single submitter ⚠
- p.Thr772Ile Single submitter Inborn genetic diseases ⚠
- p.Thr848Met Single submitter Inborn genetic diseases ⚠
- p.Thr876Met Single submitter Inborn genetic diseases ⚠
- p.Thr922Arg Single submitter Inborn genetic diseases ⚠
- p.Thr941Met Single submitter ⚠
- p.Thr958Ile Single submitter ⚠
- p.Tyr1135His Single submitter Inborn genetic diseases ⚠
- p.Tyr1162Cys Single submitter ⚠
- p.Tyr707= Single submitter opsismodysplasia
- p.Tyr986Cys Single submitter ⚠