FERMT1 — 601 ClinVar variants
All ClinVar germline FERMT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →
38 Pathogenic · 15 Likely pathogenic · 15 Conflicting · 107 Benign · 8 Benign/Likely benign · 171 Likely benign · 247 Uncertain significance
Full FERMT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 165
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FERMT1 p.Ala534Thr
Conflicting
Single submitter
Kindler syndrome
-
FERMT1 p.Gly598Arg
Conflicting
Single submitter
Inborn genetic diseases
-
FERMT1 p.Ile190Thr
Conflicting
Single submitter
Inborn genetic diseases
-
FERMT1 p.Val29Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FERMT1 p.Ala232Val
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Ala345Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ala359Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ala539Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FERMT1 p.Arg100His Uncertain significance Multiple submitters
-
FERMT1 p.Arg108Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg17His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg522Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg554Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg656His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg98Cys
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Asn22Asp
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Asp665Asn
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Cys307Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Gln214Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Gln223His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Glu339Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Gly175Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FERMT1 p.Ile124Thr Uncertain significance Multiple submitters
-
FERMT1 p.Ile262Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ile599Leu
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Leu372Arg
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Leu664Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FERMT1 p.Lys147Asn Uncertain significance Multiple submitters
-
FERMT1 p.Pro102Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Pro141Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Pro224Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Pro547Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ser207Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ser326Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ser3Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Thr607Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Thr76Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Trp56Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ala120Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ala220Thr Uncertain significance Single submitter
-
FERMT1 p.Ala345Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ala533Val Uncertain significance Single submitter
-
FERMT1 p.Ala558Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Arg110Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Arg17Cys Uncertain significance Single submitter
-
FERMT1 p.Arg238Gln
Uncertain significance
Single submitter
Kindler syndrome
- FERMT1 p.Arg238Gly Uncertain significance Single submitter
-
FERMT1 p.Arg271Gly
Uncertain significance
Single submitter
Kindler syndrome
- FERMT1 p.Arg297Ser Uncertain significance Single submitter
-
FERMT1 p.Arg421Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Arg535Trp Uncertain significance Single submitter
- FERMT1 p.Arg589Ser Uncertain significance Single submitter
- FERMT1 p.Arg619Gln Uncertain significance Single submitter
-
FERMT1 p.Asn22Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Asn247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Asn349His
Uncertain significance
Single submitter
Kindler syndrome
- FERMT1 p.Asn430Lys Uncertain significance Single submitter
-
FERMT1 p.Asn514Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Asn661Ser Uncertain significance Single submitter
- FERMT1 p.Cys307Arg Uncertain significance Single submitter
-
FERMT1 p.Cys455Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Cys468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Cys68Phe Uncertain significance Single submitter
- FERMT1 p.Gln214Lys Uncertain significance Single submitter
-
FERMT1 p.Gln226Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Gln263Arg Uncertain significance Single submitter
- FERMT1 p.Gln463Arg Uncertain significance Single submitter
- FERMT1 p.Gln531Glu Uncertain significance Single submitter
-
FERMT1 p.Gln541Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Glu13Lys Uncertain significance Single submitter
-
FERMT1 p.Glu259Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Glu424Lys Uncertain significance Single submitter
- FERMT1 p.Glu509Lys Uncertain significance Single submitter
- FERMT1 p.Gly175Asp Uncertain significance Single submitter
- FERMT1 p.Gly181Cys Uncertain significance Single submitter
-
FERMT1 p.Gly261Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Gly649Ser Uncertain significance Single submitter
- FERMT1 p.His20Gln Uncertain significance Single submitter
- FERMT1 p.His644Asn Uncertain significance Single submitter
-
FERMT1 p.Ile161Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Ile164Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ile395Met Uncertain significance Single submitter
- FERMT1 p.Ile395Phe Uncertain significance Single submitter
- FERMT1 p.Ile52Thr Uncertain significance Single submitter
- FERMT1 p.Ile609Thr Uncertain significance Single submitter
- FERMT1 p.Ile647Thr Uncertain significance Single submitter
- FERMT1 p.Ile651Asn Uncertain significance Single submitter
- FERMT1 p.Leu14Arg Uncertain significance Single submitter
- FERMT1 p.Leu385Pro Uncertain significance Single submitter
- FERMT1 p.Leu409Ile Uncertain significance Single submitter
-
FERMT1 p.Leu508Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Leu567Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Leu567Pro Uncertain significance Single submitter
-
FERMT1 p.Leu89Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Lys148Arg Uncertain significance Single submitter
-
FERMT1 p.Lys382Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Met203Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Met234Val Uncertain significance Single submitter
- FERMT1 p.Met258Thr Uncertain significance Single submitter
- FERMT1 p.Met451Ile Uncertain significance Single submitter
- FERMT1 p.Met477Val Uncertain significance Single submitter
-
FERMT1 p.Met511Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Met96Ile Uncertain significance Single submitter
- FERMT1 p.Phe272Ser Uncertain significance Single submitter
- FERMT1 p.Phe277Leu Uncertain significance Single submitter
-
FERMT1 p.Phe277Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Phe379Leu Uncertain significance Single submitter
-
FERMT1 p.Phe436Ser
Uncertain significance
Single submitter
Kindler syndrome
- FERMT1 p.Pro224His Uncertain significance Single submitter
-
FERMT1 p.Pro225Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ser176Pro Uncertain significance Single submitter
- FERMT1 p.Ser201Phe Uncertain significance Single submitter
- FERMT1 p.Ser207Arg Uncertain significance Single submitter
-
FERMT1 p.Ser529Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Ser53Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Thr597Ile Uncertain significance Single submitter
-
FERMT1 p.Thr673Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Thr73Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Thr8Ala Uncertain significance Single submitter
-
FERMT1 p.Trp464Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Tyr145Asp Uncertain significance Single submitter
- FERMT1 p.Val18Ile Uncertain significance Single submitter
- FERMT1 p.Val47Ala Uncertain significance Single submitter
- FERMT1 p.Val622Phe Uncertain significance Single submitter
- FERMT1 p.Val629Ile Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
-
FERMT1 p.Ala462Thr
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Arg255His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Arg288Gln
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Arg554Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Asp456Asn
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Glu550Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ile647Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Ser472Leu
Uncertain significance
Multiple submitters
Kindler syndrome
-
FERMT1 p.Val287Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FERMT1 p.Val486Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FERMT1 p.Ala346Glu Uncertain significance Single submitter
- FERMT1 p.Ala346Val Uncertain significance Single submitter
- FERMT1 p.Ala466Val Uncertain significance Single submitter
- FERMT1 p.Arg100Cys Uncertain significance Single submitter
- FERMT1 p.Arg271Gln Uncertain significance Single submitter
- FERMT1 p.Arg32Gly Uncertain significance Single submitter
- FERMT1 p.Arg421Thr Uncertain significance Single submitter
- FERMT1 p.Arg522Gln Uncertain significance Single submitter
- FERMT1 p.Arg535Gln Uncertain significance Single submitter
-
FERMT1 p.Arg619Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Asn247Lys Uncertain significance Single submitter
- FERMT1 p.Asp279Asn Uncertain significance Single submitter
- FERMT1 p.Asp428Asn Uncertain significance Single submitter
- FERMT1 p.Glu538Lys Uncertain significance Single submitter
-
FERMT1 p.His38Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ile305Thr Uncertain significance Single submitter
-
FERMT1 p.Ile314Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Leu636Pro Uncertain significance Single submitter
- FERMT1 p.Lys382Gln Uncertain significance Single submitter
- FERMT1 p.Phe396Cys Uncertain significance Single submitter
-
FERMT1 p.Phe90Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Pro521Leu Uncertain significance Single submitter
- FERMT1 p.Pro521Thr Uncertain significance Single submitter
-
FERMT1 p.Ser222Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Ser227Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- FERMT1 p.Ser520Thr Uncertain significance Single submitter
- FERMT1 p.Tyr275Cys Uncertain significance Single submitter
- FERMT1 p.Tyr320His Uncertain significance Single submitter
-
FERMT1 p.Tyr80Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FERMT1 p.Val621Met
Uncertain significance
Single submitter
Inborn genetic diseases
All FERMT1 variants
Pathogenic 38
- c.1371+4A>G Multiple submitters Kindler syndrome
- p.Arg110Ter Multiple submitters Kindler syndrome
- p.Arg271Ter Multiple submitters Kindler syndrome
- p.Arg288Ter Multiple submitters Kindler syndrome
- p.Glu304Ter Multiple submitters FERMT1-related disorders
- p.Trp298Ter Multiple submitters
- c.1264+1G>A Single submitter Kindler syndrome
- c.1264+363_1372-602del Single submitter Kindler syndrome
- c.1718+1G>A Single submitter
- c.1861-1G>A Single submitter Kindler syndrome
- c.385+1G>T Single submitter
- p.Arg110fs Single submitter
- p.Gln226fs Single submitter
- p.Gln263Ter Single submitter Kindler syndrome
- p.Gln332Ter Single submitter Kindler syndrome
- p.Gln460Ter Single submitter Kindler syndrome
- p.Gln93Ter Single submitter Kindler syndrome
- p.Glu351Ter Single submitter
- p.Glu550Ter Single submitter Kindler syndrome
- p.Ile124fs Single submitter
- p.Ile623del Single submitter Kindler syndrome
- p.Leu508fs Single submitter
- p.Met312fs Single submitter Kindler syndrome
- p.Ser114Ter Single submitter Kindler syndrome
- p.Ser227fs Single submitter
- p.Ser361fs Single submitter
- p.Ser400Pro Single submitter Kindler syndrome
- p.Ser586fs Single submitter
- p.Trp12Ter Single submitter Kindler syndrome
- p.Trp62fs Single submitter
- p.Tyr403Ter Single submitter
- p.Val426fs Single submitter
- c.385+2T>C No assertion criteria Kindler syndrome
- c.676insC No assertion criteria Kindler syndrome
- c.850-272_1139+53del No assertion criteria Kindler syndrome
- c.892_893insALU No assertion criteria Kindler syndrome
- p.Asn155fs No assertion criteria Kindler syndrome
- p.Val572fs No assertion criteria Kindler syndrome
Likely pathogenic 15
- c.532+1G>A Multiple submitters FERMT1-related disorders
- c.1089+1G>T Single submitter
- c.1090-1G>A Single submitter Kindler syndrome
- c.1090-2A>G Single submitter
- c.1719-1G>A Single submitter
- c.533-1G>A Single submitter
- c.849+1G>A Single submitter FERMT1-related disorders
- c.958-1G>A Single submitter Abnormality of the skin
- p.Cys125fs Single submitter Kindler syndrome
- p.Gly143fs Single submitter FERMT1-related disorders
- p.Ser507fs Single submitter Kindler syndrome
- p.Trp604Ter Single submitter
- p.Val614fs Single submitter Kindler syndrome
- p.Phe9fs No assertion criteria Kindler syndrome
- p.Trp616Ter No assertion criteria Kindler syndrome
Conflicting classifications of pathogenicity 15
- c.1594-6G>A Single submitter Kindler syndrome
- c.1718+2T>C Single submitter Kindler syndrome
- c.533-14C>T Single submitter Kindler syndrome
- p.Ala533= Single submitter Kindler syndrome
- p.Ala534Thr Single submitter Kindler syndrome ⚠
- p.Gln260= Single submitter Kindler syndrome
- p.Gln93= Single submitter Kindler syndrome
- p.Gly598Arg Single submitter Inborn genetic diseases ⚠
- p.Ile190Thr Single submitter Inborn genetic diseases ⚠
- p.Leu664= Single submitter Kindler syndrome
- p.Phe278= Single submitter Kindler syndrome
- p.Ser326= Single submitter Kindler syndrome
- p.Ser338= Single submitter Kindler syndrome
- p.Tyr80= Single submitter Kindler syndrome
- p.Val29Ile Single submitter Inborn genetic diseases ⚠
Benign 107
- c.1089+184G>T Multiple submitters
- c.1089+48A>C Multiple submitters
- c.1090-273T>C Multiple submitters
- c.1139+713A>G Multiple submitters
- c.1139+76A>G Multiple submitters
- c.1139+837C>T Multiple submitters
- c.1264+14A>G Multiple submitters Kindler syndrome
- c.1264+50G>A Multiple submitters
- c.151+103C>T Multiple submitters
- c.151+20C>T Multiple submitters
- c.151+49G>T Multiple submitters
- c.152-181T>A Multiple submitters
- c.152-4G>A Multiple submitters Kindler syndrome
- c.1594-28A>G Multiple submitters Kindler syndrome
- c.1718+133T>C Multiple submitters
- c.1718+52C>T Multiple submitters
- c.1718+81G>A Multiple submitters
- c.1719-40A>G Multiple submitters
- c.1719-75A>G Multiple submitters
- c.1861-114T>A Multiple submitters
- c.1861-217A>G Multiple submitters
- c.1861-49del Multiple submitters
- c.1861-8T>C Multiple submitters Kindler syndrome
- c.532+34C>T Multiple submitters
- c.532+8T>C Multiple submitters Kindler syndrome
- c.533-17A>C Multiple submitters
- c.533-25A>G Multiple submitters
- c.746+66C>T Multiple submitters
- c.849+108G>A Multiple submitters
- c.958-227G>T Multiple submitters
- c.958-46A>G Multiple submitters
- c.-105C>G Multiple submitters Kindler syndrome
- c.-18-11T>G Multiple submitters Kindler syndrome
- c.-18-130C>T Multiple submitters
- c.-18-22T>C Multiple submitters
- c.-185A>G Multiple submitters Kindler syndrome
- c.-19+80G>C Multiple submitters
- c.-28T>C Multiple submitters Kindler syndrome
- c.-301C>T Multiple submitters Kindler syndrome
- c.-366C>G Multiple submitters Kindler syndrome
- c.-456C>A Multiple submitters Kindler syndrome
- c.-514T>C Multiple submitters Kindler syndrome
- c.-646G>C Multiple submitters Kindler syndrome
- c.-666G>A Multiple submitters Kindler syndrome
- c.*1155T>C Multiple submitters Kindler syndrome
- c.*1195A>G Multiple submitters Kindler syndrome
- c.*1464C>T Multiple submitters Kindler syndrome
- c.*194G>A Multiple submitters Kindler syndrome
- c.*2016T>A Multiple submitters Kindler syndrome
- c.*2058C>T Multiple submitters Kindler syndrome
- c.*2069T>C Multiple submitters Kindler syndrome
- c.*72G>T Multiple submitters Kindler syndrome
- c.*902A>G Multiple submitters Kindler syndrome
- p.Ala558= Multiple submitters Kindler syndrome
- p.Arg17= Multiple submitters Kindler syndrome
- p.Arg255Cys Multiple submitters Kindler syndrome
- p.Arg526Lys Multiple submitters Kindler syndrome
- p.Asn156Ser Multiple submitters Kindler syndrome
- p.Asp78= Multiple submitters Kindler syndrome
- p.His38= Multiple submitters Kindler syndrome
- p.Ile160Thr Multiple submitters Kindler syndrome
- p.Leu385= Multiple submitters Kindler syndrome
- p.Lys525= Multiple submitters Kindler syndrome
- p.Phe565= Multiple submitters Kindler syndrome
- p.Ser472= Multiple submitters Kindler syndrome
- p.Val241Ala Multiple submitters Kindler syndrome
- c.1089+101dup Single submitter
- c.1089+119del Single submitter
- c.1090-6dup Single submitter
- c.1139+1053C>T Single submitter
- c.1139+408T>C Single submitter
- c.1139+498T>C Single submitter
- c.1140-234G>A Single submitter
- c.1265-223_1265-222insTTTGA Single submitter
- c.1265-333A>G Single submitter
- c.1371+18_1371+19del Single submitter
- c.1372-213C>T Single submitter
- c.1593+5T>C Single submitter
- c.1718+267A>T Single submitter
- c.1718+292A>T Single submitter
- c.1718+313C>T Single submitter
- c.1719-171G>A Single submitter
- c.1719-172C>T Single submitter
- c.385+121C>A Single submitter
- c.386-14dup Single submitter
- c.386-228C>T Single submitter
- c.532+300C>G Single submitter
- c.747-290C>T Single submitter
- c.849+174C>T Single submitter
- c.849+219G>A Single submitter
- c.849+231G>A Single submitter
- c.849+330_849+332del Single submitter
- c.849+331_849+332del Single submitter
- c.849+332del Single submitter
- c.850-168dup Single submitter
- c.958-51_958-46del Single submitter
- c.-18-148A>G Single submitter
- c.-18-172C>T Single submitter
- c.-18-81del Single submitter
- c.*1358T>G Single submitter Kindler syndrome
- c.*1386A>T Single submitter Kindler syndrome
- c.*1458C>T Single submitter Kindler syndrome
- p.Ala232Glu Single submitter
- p.Ala345= Single submitter
- p.Gln531Arg Single submitter
- p.Ile300Val Single submitter
- p.Met203del Single submitter
Benign/Likely benign 8
- c.1139+13T>C Multiple submitters
- c.747-12G>A Multiple submitters Kindler syndrome
- c.*193C>T Multiple submitters Kindler syndrome
- p.Ala296= Multiple submitters
- p.Asn588Asp Multiple submitters
- p.Asn628= Multiple submitters Kindler syndrome
- p.Thr597= Multiple submitters
- p.Tyr461= Multiple submitters Kindler syndrome
Likely benign 171
- c.957+10C>A Multiple submitters
- p.Ala359= Multiple submitters
- p.Arg98His Multiple submitters Kindler syndrome
- p.Asp581= Multiple submitters
- p.Glu294= Multiple submitters
- p.Leu219= Multiple submitters
- p.Phe146= Multiple submitters
- p.Phe389= Multiple submitters
- p.Pro102= Multiple submitters
- p.Pro141= Multiple submitters
- p.Val543Met Multiple submitters Kindler syndrome
- p.Val549= Multiple submitters
- c.1089+118_1089+119del Single submitter
- c.1089+8C>T Single submitter
- c.1090-16_1090-13del Single submitter
- c.1139+129C>G Single submitter
- c.1139+18G>A Single submitter
- c.1139+852_1139+855del Single submitter
- c.1140-16A>G Single submitter
- c.1264+18C>T Single submitter
- c.1264+8T>A Single submitter
- c.1265-10T>C Single submitter
- c.1265-16G>C Single submitter
- c.1265-5T>C Single submitter
- c.1371+12C>T Single submitter
- c.1372-11G>A Single submitter
- c.1372-11G>C Single submitter
- c.1372-16C>T Single submitter
- c.1372-6C>A Single submitter
- c.1372-8T>G Single submitter
- c.151+12T>A Single submitter
- c.151+14G>A Single submitter
- c.151+14G>C Single submitter
- c.152-19T>C Single submitter
- c.152-20T>C Single submitter
- c.152-5T>G Single submitter
- c.1593+10del Single submitter
- c.1593+15G>A Single submitter
- c.1593+7T>C Single submitter
- c.1594-11T>C Single submitter
- c.1594-13T>C Single submitter
- c.1594-14_1594-13del Single submitter
- c.1594-19G>A Single submitter
- c.1718+9A>G Single submitter
- c.1719-16T>C Single submitter
- c.1719-4T>C Single submitter
- c.1860+12G>A Single submitter
- c.1860+18G>A Single submitter
- c.1861-20T>C Single submitter
- c.1861-9C>T Single submitter
- c.385+12G>A Single submitter
- c.385+13G>C Single submitter
- c.386-14A>C Single submitter
- c.386-20T>A Single submitter
- c.386-9T>C Single submitter
- c.532+10G>C Single submitter
- c.532+13A>G Single submitter
- c.533-13C>T Single submitter
- c.746+10C>T Single submitter
- c.746+11G>A Single submitter
- c.746+12G>A Single submitter
- c.746+12G>T Single submitter
- c.746+14T>A Single submitter
- c.746+15C>T Single submitter
- c.746+18T>C Single submitter
- c.747-15G>A Single submitter
- c.747-16T>C Single submitter
- c.747-17A>G Single submitter
- c.747-20C>G Single submitter
- c.747-20C>T Single submitter
- c.747-9A>G Single submitter
- c.849+11T>A Single submitter
- c.849+17_849+21del Single submitter
- c.849+8A>T Single submitter
- c.957+10C>T Single submitter
- c.957+19C>A Single submitter
- c.958-15C>G Single submitter
- c.958-17G>A Single submitter
- c.958-18C>T Single submitter
- c.958-7A>G Single submitter
- c.-588C>T Single submitter Kindler syndrome
- c.-609G>A Single submitter Kindler syndrome
- c.-655C>T Single submitter Kindler syndrome
- c.*1365C>A Single submitter Kindler syndrome
- c.*2118A>G Single submitter Kindler syndrome
- c.*2204T>C Single submitter Kindler syndrome
- c.*266A>C Single submitter Kindler syndrome
- c.*298G>T Single submitter Kindler syndrome
- c.*59A>G Single submitter Kindler syndrome
- p.Ala286= Single submitter
- p.Ala346= Single submitter
- p.Ala445= Single submitter
- p.Ala539= Single submitter
- p.Ala60= Single submitter
- p.Ala638= Single submitter
- p.Arg434= Single submitter
- p.Arg619= Single submitter
- p.Arg656= Single submitter
- p.Asn155= Single submitter
- p.Asn499= Single submitter
- p.Asn542= Single submitter
- p.Asp153= Single submitter
- p.Asp163= Single submitter
- p.Asp19= Single submitter
- p.Asp252= Single submitter
- p.Asp28= Single submitter
- p.Asp306= Single submitter
- p.Asp360= Single submitter
- p.Asp368= Single submitter
- p.Asp428= Single submitter
- p.Asp512= Single submitter
- p.Asp58= Single submitter
- p.Cys423= Single submitter
- p.Cys468= Single submitter
- p.Cys635= Single submitter
- p.Gln611= Single submitter
- p.Glu13= Single submitter
- p.Glu213Lys Single submitter
- p.Glu24= Single submitter
- p.Glu309= Single submitter
- p.Glu48= Single submitter
- p.Gly181= Single submitter
- p.Gly35= Single submitter
- p.Gly648= Single submitter
- p.Gly81= Single submitter
- p.His321= Single submitter
- p.His540= Single submitter
- p.Ile305= Single submitter
- p.Ile322= Single submitter
- p.Ile489= Single submitter
- p.Ile642= Single submitter
- p.Leu138= Single submitter
- p.Leu165= Single submitter
- p.Leu182= Single submitter
- p.Leu246= Single submitter
- p.Leu31= Single submitter
- p.Leu327= Single submitter
- p.Leu470= Single submitter
- p.Leu571= Single submitter
- p.Leu636= Single submitter
- p.Leu71= Single submitter
- p.Leu89= Single submitter
- p.Lys150= Single submitter
- p.Lys27= Single submitter
- p.Lys273= Single submitter
- p.Lys66= Single submitter
- p.Phe606= Single submitter
- p.Phe652= Single submitter
- p.Pro224= Single submitter
- p.Pro225= Single submitter
- p.Pro547= Single submitter
- p.Pro600= Single submitter
- p.Ser253= Single submitter
- p.Ser491= Single submitter
- p.Thr197= Single submitter
- p.Thr202= Single submitter
- p.Thr212= Single submitter
- p.Thr476= Single submitter
- p.Thr5= Single submitter
- p.Thr603= Single submitter
- p.Thr618Ile Single submitter Inborn genetic diseases
- p.Thr631= Single submitter
- p.Thr673= Single submitter
- p.Thr73= Single submitter
- p.Tyr235= Single submitter
- p.Tyr284= Single submitter
- p.Tyr293= Single submitter
- p.Val18= Single submitter
- p.Val426= Single submitter
- p.Val543= Single submitter
- p.Val629= Single submitter
Uncertain significance 247
- c.*1004G>A Multiple submitters Kindler syndrome
- c.*1076C>T Multiple submitters Kindler syndrome
- c.*2124C>A Multiple submitters Kindler syndrome
- p.Ala232Val Multiple submitters Kindler syndrome ⚠
- p.Ala345Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala359Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala462Thr Multiple submitters Kindler syndrome ⚠
- p.Ala539Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg100His Multiple submitters ⚠
- p.Arg108Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg17His Multiple submitters Inborn genetic diseases ⚠
- p.Arg255His Multiple submitters Inborn genetic diseases ⚠
- p.Arg288Gln Multiple submitters Kindler syndrome ⚠
- p.Arg522Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg554Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg554Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg656His Multiple submitters Inborn genetic diseases ⚠
- p.Arg98Cys Multiple submitters Kindler syndrome ⚠
- p.Asn22Asp Multiple submitters Kindler syndrome ⚠
- p.Asp456Asn Multiple submitters Kindler syndrome ⚠
- p.Asp665Asn Multiple submitters Kindler syndrome ⚠
- p.Cys307Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln214Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln223His Multiple submitters Inborn genetic diseases ⚠
- p.Glu339Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu550Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly175Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ile124Thr Multiple submitters ⚠
- p.Ile262Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile599Leu Multiple submitters Kindler syndrome ⚠
- p.Ile647Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu372Arg Multiple submitters Kindler syndrome ⚠
- p.Leu664Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys147Asn Multiple submitters ⚠
- p.Pro102Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro141Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro224Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro547Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser207Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser326Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser3Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser472Leu Multiple submitters Kindler syndrome ⚠
- p.Thr607Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr76Ala Multiple submitters Inborn genetic diseases
- p.Thr76Ile Multiple submitters Inborn genetic diseases ⚠
- p.Trp56Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val287Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val486Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val519Leu Multiple submitters Kindler syndrome
- p.Val643Met Multiple submitters
- c.1089+3A>G Single submitter
- c.1371+7A>G Single submitter Kindler syndrome
- c.1372-3C>A Single submitter
- c.1593+4C>T Single submitter
- c.1594-3C>T Single submitter
- c.1860+5A>G Single submitter
- c.747-3T>C Single submitter
- c.957+3A>G Single submitter
- c.957+6G>A Single submitter
- c.958-3T>C Single submitter
- c.-109G>T Single submitter Kindler syndrome
- c.-136C>T Single submitter Kindler syndrome
- c.-154GCC[2] Single submitter
- c.-189C>A Single submitter Kindler syndrome
- c.-215G>A Single submitter Kindler syndrome
- c.-244G>A Single submitter Kindler syndrome
- c.-262C>G Single submitter Kindler syndrome
- c.-343C>T Single submitter Kindler syndrome
- c.-354G>C Single submitter Kindler syndrome
- c.-448C>A Single submitter Kindler syndrome
- c.-514T>G Single submitter Kindler syndrome
- c.-606G>C Single submitter Kindler syndrome
- c.-644G>C Single submitter Kindler syndrome
- c.-668C>A Single submitter Kindler syndrome
- c.-692A>G Single submitter Kindler syndrome
- c.-710G>T Single submitter Kindler syndrome
- c.-777C>T Single submitter Kindler syndrome
- c.-800C>A Single submitter Kindler syndrome
- c.-93C>G Single submitter Kindler syndrome
- c.*1035C>T Single submitter Kindler syndrome
- c.*1058T>G Single submitter Kindler syndrome
- c.*1137T>A Single submitter Kindler syndrome
- c.*1299C>T Single submitter Kindler syndrome
- c.*1338T>G Single submitter Kindler syndrome
- c.*1375G>A Single submitter Kindler syndrome
- c.*1417T>C Single submitter Kindler syndrome
- c.*1472G>A Single submitter Kindler syndrome
- c.*1531G>A Single submitter Kindler syndrome
- c.*174T>A Single submitter Kindler syndrome
- c.*1774G>A Single submitter Kindler syndrome
- c.*1843C>A Single submitter Kindler syndrome
- c.*1885G>A Single submitter Kindler syndrome
- c.*205C>G Single submitter Kindler syndrome
- c.*2068A>G Single submitter Kindler syndrome
- c.*2073A>T Single submitter Kindler syndrome
- c.*207C>G Single submitter Kindler syndrome
- c.*2123dup Single submitter
- c.*2221A>G Single submitter Kindler syndrome
- c.*2227C>T Single submitter Kindler syndrome
- c.*2250C>T Single submitter Kindler syndrome
- c.*2294T>G Single submitter Kindler syndrome
- c.*251C>G Single submitter Kindler syndrome
- c.*305C>T Single submitter Kindler syndrome
- c.*42A>G Single submitter Kindler syndrome
- c.*436A>G Single submitter Kindler syndrome
- c.*438C>T Single submitter Kindler syndrome
- c.*450A>G Single submitter Kindler syndrome
- c.*638C>T Single submitter Kindler syndrome
- c.*697G>A Single submitter Kindler syndrome
- c.*730C>T Single submitter Kindler syndrome
- c.*764G>A Single submitter Kindler syndrome
- c.*896G>C Single submitter Kindler syndrome
- c.*908A>G Single submitter Kindler syndrome
- c.*932C>T Single submitter Kindler syndrome
- c.*951A>G Single submitter Kindler syndrome
- c.*960G>A Single submitter Kindler syndrome
- p.Ala120Thr Single submitter Inborn genetic diseases ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala345Ser Single submitter Inborn genetic diseases ⚠
- p.Ala346Glu Single submitter ⚠
- p.Ala346Val Single submitter ⚠
- p.Ala466Val Single submitter ⚠
- p.Ala533Val Single submitter ⚠
- p.Ala558Val Single submitter Inborn genetic diseases ⚠
- p.Arg100Cys Single submitter ⚠
- p.Arg110Gln Single submitter Inborn genetic diseases ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg238Gln Single submitter Kindler syndrome ⚠
- p.Arg238Gly Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg271Gly Single submitter Kindler syndrome ⚠
- p.Arg297Ser Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg421Lys Single submitter Inborn genetic diseases ⚠
- p.Arg421Thr Single submitter ⚠
- p.Arg522Gln Single submitter ⚠
- p.Arg535Gln Single submitter ⚠
- p.Arg535Trp Single submitter ⚠
- p.Arg589Ser Single submitter ⚠
- p.Arg619Gln Single submitter ⚠
- p.Arg619Trp Single submitter Inborn genetic diseases ⚠
- p.Arg656Cys Single submitter
- p.Asn129Lys Single submitter
- p.Asn22Ser Single submitter Inborn genetic diseases ⚠
- p.Asn247Lys Single submitter ⚠
- p.Asn247Ser Single submitter Inborn genetic diseases ⚠
- p.Asn349His Single submitter Kindler syndrome ⚠
- p.Asn430Lys Single submitter ⚠
- p.Asn514Lys Single submitter Inborn genetic diseases ⚠
- p.Asn661Ser Single submitter ⚠
- p.Asp279Asn Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Asp85Glu Single submitter
- p.Cys307Arg Single submitter ⚠
- p.Cys455Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys468Ser Single submitter Inborn genetic diseases ⚠
- p.Cys68Phe Single submitter ⚠
- p.Gln214Lys Single submitter ⚠
- p.Gln226Lys Single submitter Inborn genetic diseases ⚠
- p.Gln263Arg Single submitter ⚠
- p.Gln463Arg Single submitter ⚠
- p.Gln531Glu Single submitter ⚠
- p.Gln541Glu Single submitter Inborn genetic diseases ⚠
- p.Glu13Lys Single submitter ⚠
- p.Glu259Gln Single submitter Inborn genetic diseases ⚠
- p.Glu424Lys Single submitter ⚠
- p.Glu509Lys Single submitter ⚠
- p.Glu538Lys Single submitter ⚠
- p.Gly175Asp Single submitter ⚠
- p.Gly181Cys Single submitter ⚠
- p.Gly261Asp Single submitter Inborn genetic diseases ⚠
- p.Gly336= Single submitter
- p.Gly649Ser Single submitter ⚠
- p.His20Gln Single submitter ⚠
- p.His38Tyr Single submitter Inborn genetic diseases ⚠
- p.His644Asn Single submitter ⚠
- p.Ile161Thr Single submitter Inborn genetic diseases ⚠
- p.Ile164Thr Single submitter Inborn genetic diseases ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile314Thr Single submitter Inborn genetic diseases ⚠
- p.Ile395Met Single submitter ⚠
- p.Ile395Phe Single submitter ⚠
- p.Ile52Thr Single submitter ⚠
- p.Ile609Thr Single submitter ⚠
- p.Ile647Thr Single submitter ⚠
- p.Ile651Asn Single submitter ⚠
- p.Ile651Met Single submitter
- p.Leu14Arg Single submitter ⚠
- p.Leu385Pro Single submitter ⚠
- p.Leu409Ile Single submitter ⚠
- p.Leu46= Single submitter
- p.Leu508Ile Single submitter Inborn genetic diseases ⚠
- p.Leu532= Single submitter
- p.Leu567Arg Single submitter Inborn genetic diseases ⚠
- p.Leu567Pro Single submitter ⚠
- p.Leu636Pro Single submitter ⚠
- p.Leu89Phe Single submitter Inborn genetic diseases ⚠
- p.Lys148Arg Single submitter ⚠
- p.Lys152del Single submitter
- p.Lys185= Single submitter Kindler syndrome
- p.Lys358= Single submitter Kindler syndrome
- p.Lys382Gln Single submitter ⚠
- p.Lys382Glu Single submitter Inborn genetic diseases ⚠
- p.Lys671Thr Single submitter
- p.Met203Val Single submitter Inborn genetic diseases ⚠
- p.Met234Val Single submitter ⚠
- p.Met258Thr Single submitter ⚠
- p.Met451Ile Single submitter ⚠
- p.Met477Val Single submitter ⚠
- p.Met511Thr Single submitter Inborn genetic diseases ⚠
- p.Met546Arg Single submitter Kindler syndrome
- p.Met96Ile Single submitter ⚠
- p.Phe272Ser Single submitter ⚠
- p.Phe277Leu Single submitter ⚠
- p.Phe277Val Single submitter Inborn genetic diseases ⚠
- p.Phe379Leu Single submitter ⚠
- p.Phe396Cys Single submitter ⚠
- p.Phe436Ser Single submitter Kindler syndrome ⚠
- p.Phe90Leu Single submitter Inborn genetic diseases ⚠
- p.Pro224His Single submitter ⚠
- p.Pro225Ser Single submitter Inborn genetic diseases ⚠
- p.Pro521Leu Single submitter ⚠
- p.Pro521Thr Single submitter ⚠
- p.Ser176Pro Single submitter ⚠
- p.Ser201Phe Single submitter ⚠
- p.Ser207Arg Single submitter ⚠
- p.Ser222Arg Single submitter Inborn genetic diseases ⚠
- p.Ser227Phe Single submitter Inborn genetic diseases ⚠
- p.Ser520Thr Single submitter ⚠
- p.Ser529Pro Single submitter Inborn genetic diseases ⚠
- p.Ser53Thr Single submitter Inborn genetic diseases ⚠
- p.Thr188= Single submitter Kindler syndrome
- p.Thr597Ile Single submitter ⚠
- p.Thr673Ala Single submitter Inborn genetic diseases ⚠
- p.Thr73Ser Single submitter Inborn genetic diseases ⚠
- p.Thr8Ala Single submitter ⚠
- p.Trp464Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr145Asp Single submitter ⚠
- p.Tyr275Cys Single submitter ⚠
- p.Tyr320His Single submitter ⚠
- p.Tyr80Ser Single submitter Inborn genetic diseases ⚠
- p.Val18Ile Single submitter ⚠
- p.Val47Ala Single submitter ⚠
- p.Val621= Single submitter
- p.Val621Met Single submitter Inborn genetic diseases ⚠
- p.Val622Phe Single submitter ⚠
- p.Val629Ile Single submitter ⚠