ITGA6 — 814 ClinVar variants

All ClinVar germline ITGA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →

30 Pathogenic · 4 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 22 Conflicting · 79 Benign · 9 Benign/Likely benign · 386 Likely benign · 265 Uncertain significance

Full ITGA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 199

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 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ITGA6 p.Gln884Arg Conflicting Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile1022Val Conflicting Single submitter
Inborn genetic diseases
ITGA6 p.Ile617Thr Conflicting Single submitter
Inborn genetic diseases
ITGA6 p.Pro940Leu Conflicting Single submitter
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Ser954Leu Conflicting Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia

Predictors lean, ClinVar uncertain 161

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 161

ITGA6 c.*65C>G Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala1024Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Ala321Val Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala491Val Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Ala90Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg19Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg484His Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg578His Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg594His Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg913Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Arg942Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Asn635Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Asn931Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Asn992Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Asp102Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Asp308His Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Cys928Arg Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly279Arg Uncertain significance Multiple submitters
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Gly994Asp Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile367Val Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile395Thr Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile657Val Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Ile769Val Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Ile951Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Leu739Ile Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu839Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Leu926Pro Uncertain significance Multiple submitters
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Lys547Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Lys967Thr Uncertain significance Multiple submitters
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Met440Val Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Pro105Ser Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Pro40Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Pro40Leu Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ser929Gly Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr506Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Thr925Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Tyr401Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Tyr640Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Val33Met Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Val932Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 c.*101G>C Uncertain significance Single submitter
junctional epidermolysis bullosa with pyloric atresia
ITGA6 c.*50G>A Uncertain significance Single submitter
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Ala1024Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala14Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ala14Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala396Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ala3Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ala437Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ala488Val Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ala507Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala948Val Uncertain significance Single submitter
ITGA6 p.Ala983Pro Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala983Val Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Arg153Gln Uncertain significance Single submitter
ITGA6 p.Arg153Trp Uncertain significance Single submitter
ITGA6 p.Arg162Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Arg218Cys Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg368Cys Uncertain significance Single submitter
ITGA6 p.Arg444Gln Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg444Leu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg465Gln Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Arg465Trp Uncertain significance Single submitter
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Arg540Gln Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Arg594Pro Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Arg91Pro Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn32Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn541His Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asn598Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asn630Ser Uncertain significance Single submitter
ITGA6 p.Asn648Thr Uncertain significance Single submitter
ITGA6 p.Asn778Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asn781Asp Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn781Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asn78Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn861Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn933Lys Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asp104Glu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asp166Asn Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asp308Asn Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asp39Glu Uncertain significance Single submitter
ITGA6 p.Asp449Glu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asp610Gly Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asp706Ala Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asp911Gly Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Cys131Tyr Uncertain significance Single submitter
ITGA6 p.Cys175Tyr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Cys496Trp Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Cys643Gly Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Cys737Arg Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gln589Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Gln649Glu Uncertain significance Single submitter
ITGA6 p.Gln854Arg Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Glu247Asp Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Glu920Lys Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Gly15Glu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly391Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly511Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.His140Asp Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.His245Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.His300Tyr Uncertain significance Single submitter
ITGA6 p.Ile1017Leu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile1035Met Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ile1035Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile274Asn Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile367Phe Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ile387Met Uncertain significance Single submitter
ITGA6 p.Ile436Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile516Val Uncertain significance Single submitter
ITGA6 p.Ile657Leu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ile701Met Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ile951Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Leu1019Pro Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu325Phe Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu369Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Leu43Ile Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Leu497Pro Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Leu533Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu600Phe Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu622Val Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu636Phe Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Leu865Phe Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Lys266Asn Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Lys426Glu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Lys59Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Lys59Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Lys870Glu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Met296Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Met355Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Met355Thr Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Met820Thr Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Phe185Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Pro430His Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Pro492Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Pro682Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Pro688Leu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Pro742Ser Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ser1011Leu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ser593Phe Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ser634Gly Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ser653Pro Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ser798Leu Uncertain significance Single submitter
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Ser860Arg Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ser889Thr Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ser916Tyr Uncertain significance Single submitter
ITGA6 p.Thr106Arg Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr243Ile Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Thr28Ile Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr549Ile Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr703Met Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr813Pro Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia

Predictors split 33

The independent predictors disagree with each other — read with care.

ITGA6 p.Arg484Cys Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg902Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Gly311Ala Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly311Asp Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly329Arg Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile887Met Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Met50Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Met50Val Likely benign Multiple submitters
junctional epidermolysis bullosa with pyloric atresia
ITGA6 p.Thr143Met Uncertain significance Multiple submitters
Inborn genetic diseases
ITGA6 p.Val351Leu Uncertain significance Multiple submitters
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ala283Thr Uncertain significance Single submitter
ITGA6 p.Arg29Trp Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg368His Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Arg594Cys Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asn284Ser Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn781Ile Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asn838Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Asp671Gly Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Asp693Asn Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Glu111Lys Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Glu663Gly Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Gly811Glu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Ile268Thr Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Ile988Thr Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Phe307Leu Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Phe462Leu Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Thr549Pro Uncertain significance Single submitter
ITGA6 p.Thr775Ile Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Tyr434His Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Val119Ile Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Val129Met Uncertain significance Single submitter
epidermolysis bullosa, junctional 6, with pyloric atresia
ITGA6 p.Val561Gly Uncertain significance Single submitter
Inborn genetic diseases
ITGA6 p.Val678Ala Uncertain significance Single submitter

All ITGA6 variants

Pathogenic 30

p.Arg134Ter Single submitter
p.Arg294fs Single submitter
p.Arg368fs Single submitter
p.Cys562fs Single submitter
p.Cys737_Glu738delinsTer Single submitter
p.Gln1062Ter Single submitter
p.Gln538Ter Single submitter
p.Gln570Ter Single submitter
p.Glu30Ter Single submitter
p.Gly125fs Single submitter
p.Gly126fs Single submitter
p.Gly875fs Single submitter
p.His305fs Single submitter junctional epidermolysis bullosa with pyloric atresia
p.His620fs Single submitter
p.Ile163fs Single submitter
p.Ile333fs Single submitter
p.Ile384fs Single submitter
p.Ile495fs Single submitter
p.Leu554fs Single submitter
p.Lys127fs Single submitter
p.Lys297fs Single submitter
p.Lys914fs Single submitter
p.Ser429Ter Single submitter junctional epidermolysis bullosa
p.Ser800fs Single submitter
p.Trp855Ter Single submitter
p.Tyr923Ter Single submitter
c.2506-1G>C No assertion criteria epidermolysis bullosa, junctional 6, with pyloric atresia
c.388-5T>G No assertion criteria epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ser270fs No assertion criteria epidermolysis bullosa, junctional 6, with pyloric atresia
p.Val129= No assertion criteria epidermolysis bullosa, junctional 6, with pyloric atresia

Pathogenic/Likely pathogenic 4

p.Arg148Ter Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Arg976Ter Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ile409fs Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Phe205fs Multiple submitters ITGA6-related disorders

Likely pathogenic 19

c.307+1dup Multiple submitters ITGA6-related disorders
c.1269+2T>C Single submitter
c.1549+1del Single submitter
c.1710+1G>A Single submitter
c.2244+1G>A Single submitter
c.2402+1G>A Single submitter
c.2506-2A>C Single submitter
c.387+1G>A Single submitter
c.775+2_775+5del Single submitter
c.776-2A>T Single submitter
c.*91AGA[1] Single submitter childhood-onset schizophrenia
p.Arg596Ter Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Arg645Ter Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Arg91fs Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Asp980fs Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Ile580fs Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ser47Leu Single submitter epidermolysis bullosa
p.Ser85fs Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Trp1015Ter Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia

Conflicting classifications of pathogenicity 22

c.1269+14C>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.1270-11G>T Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
c.2680-14A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*142dup Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ala584= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Arg1044= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Gln723= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Gln884Arg Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly1025= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Ile1022Val Single submitter Inborn genetic diseases ⚠
p.Ile617Thr Single submitter Inborn genetic diseases ⚠
p.Leu1023= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Lys1056fs Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Phe1002= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Pro253= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Pro940Leu Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
p.Ser458= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Ser954Leu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr1000= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Thr644= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Thr703= Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Thr764= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia

Benign 79

c.1181-116A>C Multiple submitters
c.1181-127A>C Multiple submitters
c.1181-146G>A Multiple submitters
c.1388+8A>T Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.1389-108G>A Multiple submitters
c.1487+7A>G Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.1488-38A>C Multiple submitters
c.1549+98G>A Multiple submitters
c.182+11A>G Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.182+15C>T Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.182+187C>T Multiple submitters
c.182+30T>C Multiple submitters
c.182+91G>T Multiple submitters
c.183-302T>A Multiple submitters
c.1971-30T>G Multiple submitters
c.2161-16T>C Multiple submitters
c.2244+16A>C Multiple submitters
c.2245-3del Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.2403-30C>T Multiple submitters
c.2505+104G>A Multiple submitters
c.2779-42A>C Multiple submitters
c.2889+41C>G Multiple submitters
c.307+158T>G Multiple submitters
c.308-194G>T Multiple submitters
c.308-235A>T Multiple submitters
c.308-94G>A Multiple submitters
c.388-133G>A Multiple submitters
c.388-13C>A Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.776-130T>C Multiple submitters
c.986+14A>C Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.986+76C>T Multiple submitters
c.-138G>A Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.-14C>G Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.*2374T>C Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.*435A>G Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.*58T>C Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.*595C>T Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Ala380Thr Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Arg902Trp Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Asp694= Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Asp766Tyr Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Ile582Val Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Ser954= Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Val930Met Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.1269+161T>C Single submitter
c.1270-146_1270-145insCT Single submitter
c.1389-241G>A Single submitter
c.183-18714A>G Single submitter
c.2161-18C>T Single submitter
c.2161-9C>G Single submitter
c.2245-3dup Single submitter
c.2325-10dup Single submitter
c.2403-11del Single submitter
c.2506-99del Single submitter
c.2680-4dup Single submitter
c.2779-9dup Single submitter
c.307+159_307+160del Single submitter
c.307+316G>C Single submitter
c.308-273C>T Single submitter
c.3114+142G>C Single submitter
c.3114+177C>T Single submitter
c.387+235T>C Single submitter
c.643+65_643+66insCATGATTTAGTAC Single submitter
c.644-134C>T Single submitter
c.776-11del Single submitter
c.776-297T>C Single submitter
c.776-5del Single submitter
c.986+223A>T Single submitter
c.*1194A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1459G>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1655G>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1809T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*204_*205insT Single submitter
c.*2088T>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*22+240C>T Single submitter
c.*23-72_*23-34del Single submitter
c.*2309C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*2349T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Gly298Ser No assertion criteria ITGA6-related disorder

Benign/Likely benign 9

c.1970+12_1970+14del Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.2161-17G>A Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.2244+19T>G Multiple submitters
c.2505+9G>C Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.2989-6C>T Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Asp910Asn Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Pro940= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ter1074= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Val749= Multiple submitters junctional epidermolysis bullosa with pyloric atresia

Likely benign 386

Showing the top 300 by review status; the full set is in the sitemap.

c.1854+7C>G Multiple submitters
c.2679+7C>T Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.*204A>T Multiple submitters
c.*408C>T Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.*751A>G Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Ala4Thr Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Ala712= Multiple submitters
p.Arg953His Multiple submitters junctional epidermolysis bullosa with pyloric atresia
p.Cys86= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Met50Val Multiple submitters junctional epidermolysis bullosa with pyloric atresia ⚠
p.Pro67= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Thr243= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Tyr352= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.1180+14T>A Single submitter
c.1180+16_1180+17dup Single submitter
c.1180+9T>C Single submitter
c.1181-10T>A Single submitter
c.1181-11G>A Single submitter
c.1181-16G>A Single submitter
c.1181-17T>A Single submitter
c.1181-9_1181-7del Single submitter
c.1269+14C>T Single submitter
c.1269+15G>A Single submitter
c.1269+17del Single submitter
c.1269+17G>C Single submitter
c.1270-11G>A Single submitter
c.1270-15_1270-11del Single submitter
c.1270-15C>T Single submitter
c.1388+14G>T Single submitter
c.1388+8_1388+9dup Single submitter
c.1389-14C>A Single submitter
c.1389-5T>C Single submitter
c.1389-8G>A Single submitter
c.1487+11C>G Single submitter
c.1487+11C>T Single submitter
c.1487+12T>A Single submitter
c.1487+13C>T Single submitter
c.1487+20G>A Single submitter
c.1487+9C>A Single submitter
c.1488-14T>C Single submitter
c.1488-18G>A Single submitter
c.1488-19T>C Single submitter
c.1549+11A>C Single submitter
c.1549+9C>G Single submitter
c.1550-11A>T Single submitter
c.1550-12A>G Single submitter
c.1550-17A>T Single submitter
c.1550-19T>C Single submitter
c.1550-7T>C Single submitter
c.1710+11dup Single submitter
c.1710+12A>C Single submitter
c.1710+13G>T Single submitter
c.1710+14A>C Single submitter
c.1710+17_1710+18insCT Single submitter
c.1710+20_1710+21insTAAAA Single submitter
c.1711-12C>A Single submitter
c.1711-13G>A Single submitter
c.182+8C>G Single submitter
c.183-10T>G Single submitter
c.183-15_183-14del Single submitter
c.183-16T>C Single submitter
c.183-20T>G Single submitter
c.183-6C>T Single submitter
c.1854+10T>C Single submitter
c.1854+11C>G Single submitter
c.1854+13_1854+16del Single submitter
c.1854+16T>A Single submitter
c.1854+18T>C Single submitter
c.1854+6TC[2] Single submitter
c.1855-12G>A Single submitter
c.1855-13C>T Single submitter
c.1855-20_1855-19del Single submitter
c.1855-20T>C Single submitter
c.1855-4A>G Single submitter
c.1855-4A>T Single submitter
c.1855-5T>C Single submitter
c.1855-7C>T Single submitter
c.1970+10G>A Single submitter
c.1970+9C>T Single submitter
c.1971-19G>A Single submitter
c.1971-5A>G Single submitter
c.1971-5A>T Single submitter
c.1971-9T>A Single submitter
c.2160+14G>C Single submitter
c.2160+16G>A Single submitter
c.2160+7A>G Single submitter
c.2161-17G>T Single submitter
c.2161-17GT[2] Single submitter
c.2244+10G>A Single submitter
c.2244+11C>G Single submitter
c.2244+19T>C Single submitter
c.2245-12_2245-11del Single submitter
c.2245-13dup Single submitter
c.2324+16A>C Single submitter
c.2324+18C>T Single submitter
c.2325-15C>A Single submitter
c.2325-16dup Single submitter
c.2402+11_2402+16del Single submitter
c.2402+17A>T Single submitter
c.2402+20A>C Single submitter
c.2402+8T>A Single submitter
c.2403-12T>C Single submitter
c.2403-20G>A Single submitter
c.2505+12C>G Single submitter
c.2505+12C>T Single submitter
c.2505+13A>C Single submitter
c.2505+20C>T Single submitter
c.2506-20T>A Single submitter
c.2679+16_2679+20del Single submitter
c.2679+21_2679+23del Single submitter
c.2679+7C>A Single submitter
c.2679+8G>A Single submitter
c.2679+8G>T Single submitter
c.2680-12_2680-10del Single submitter
c.2680-12A>C Single submitter
c.2680-16del Single submitter
c.2680-18G>T Single submitter
c.2680-20T>A Single submitter
c.2778+14A>G Single submitter
c.2778+18G>A Single submitter
c.2779-13T>C Single submitter
c.2779-14_2779-12del Single submitter
c.2779-14C>A Single submitter
c.2779-14C>T Single submitter
c.2779-8C>A Single submitter
c.2779-8C>T Single submitter
c.2779-9T>C Single submitter
c.2889+10T>G Single submitter
c.2889+12del Single submitter
c.2889+12G>C Single submitter
c.2889+16G>A Single submitter
c.2889+16G>T Single submitter
c.2889+17A>G Single submitter
c.2890-15A>C Single submitter
c.2890-16C>G Single submitter
c.2890-19A>G Single submitter
c.2988+13C>G Single submitter
c.2988+18T>C Single submitter
c.2988+8G>T Single submitter
c.2988+9T>C Single submitter
c.2989-13T>C Single submitter
c.2989-16C>A Single submitter
c.2989-18T>G Single submitter
c.2989-5T>C Single submitter
c.307+15C>G Single submitter
c.307+17C>T Single submitter
c.308-15del Single submitter
c.308-16A>G Single submitter
c.308-4A>G Single submitter
c.3114+15G>A Single submitter
c.3115-20_3115-19del Single submitter
c.3115-4G>C Single submitter
c.387+11A>C Single submitter
c.387+11A>T Single submitter
c.387+14C>T Single submitter
c.387+16_387+17del Single submitter
c.387+17A>C Single submitter
c.387+18T>C Single submitter
c.387+19G>A Single submitter
c.387+9A>G Single submitter
c.388-17C>A Single submitter
c.388-8G>A Single submitter
c.643+12G>A Single submitter
c.643+8C>T Single submitter
c.644-12T>C Single submitter
c.775+10G>A Single submitter
c.775+13A>T Single submitter
c.775+20_775+23del Single submitter
c.775+7G>A Single submitter
c.776-1295G>A Single submitter
c.776-19A>G Single submitter
c.776-6T>C Single submitter
c.986+10C>T Single submitter
c.986+12T>C Single submitter
c.986+19A>G Single submitter
c.987-10A>G Single submitter
c.987-11T>C Single submitter
c.987-16C>G Single submitter
c.987-19C>T Single submitter
c.*1135T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1339T>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*702C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*747A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*882A>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*919A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Ala103= Single submitter
p.Ala1073= Single submitter
p.Ala14= Single submitter
p.Ala193= Single submitter
p.Ala2= Single submitter
p.Ala3= Single submitter
p.Ala321= Single submitter
p.Ala380= Single submitter
p.Ala399= Single submitter
p.Ala4= Single submitter
p.Ala488= Single submitter
p.Ala491= Single submitter
p.Ala507= Single submitter
p.Ala702= Single submitter
p.Ala71= Single submitter
p.Ala718= Single submitter
p.Ala735= Single submitter
p.Ala819= Single submitter
p.Ala849= Single submitter
p.Ala948= Single submitter
p.Ala984= Single submitter
p.Ala985= Single submitter
p.Arg178= Single submitter
p.Arg484= Single submitter
p.Arg686= Single submitter
p.Arg953= Single submitter
p.Arg955= Single submitter
p.Arg96= Single submitter
p.Arg976= Single submitter
p.Asn101= Single submitter
p.Asn383= Single submitter
p.Asn630= Single submitter
p.Asn684= Single submitter
p.Asn687= Single submitter
p.Asn731= Single submitter
p.Asn778= Single submitter
p.Asn838= Single submitter
p.Asn897= Single submitter
p.Asn931= Single submitter
p.Asn936= Single submitter
p.Asn958= Single submitter
p.Asn987= Single submitter
p.Asp104= Single submitter
p.Asp1048= Single submitter
p.Asp165= Single submitter
p.Asp171= Single submitter
p.Asp199= Single submitter
p.Asp234= Single submitter
p.Asp246= Single submitter
p.Asp342= Single submitter
p.Asp386= Single submitter
p.Asp39= Single submitter
p.Asp402= Single submitter
p.Asp403= Single submitter
p.Asp628= Single submitter
p.Asp691= Single submitter
p.Asp768= Single submitter
p.Cys154= Single submitter
p.Cys737= Single submitter
p.Cys8= Single submitter
p.Gln1009= Single submitter
p.Gln113= Single submitter
p.Gln145= Single submitter
p.Gln339= Single submitter
p.Gln649= Single submitter
p.Gln908= Single submitter
p.Glu111= Single submitter
p.Glu545= Single submitter
p.Glu587= Single submitter
p.Glu98= Single submitter
p.Gly235= Single submitter
p.Gly279= Single submitter
p.Gly287= Single submitter
p.Gly385= Single submitter
p.Gly45= Single submitter
p.Gly5= Single submitter
p.Gly627= Single submitter
p.Gly647= Single submitter
p.Gly692= Single submitter
p.Gly816= Single submitter
p.Gly862= Single submitter
p.Gly943= Single submitter
p.His1055= Single submitter
p.His245= Single submitter
p.His285= Single submitter
p.His411= Single submitter
p.His616= Single submitter
p.His620= Single submitter
p.Ile34= Single submitter
p.Ile474= Single submitter
p.Ile701= Single submitter
p.Ile909Thr Single submitter Inborn genetic diseases
p.Leu10= Single submitter
p.Leu1019= Single submitter
p.Leu1036= Single submitter
p.Leu157= Single submitter
p.Leu179= Single submitter
p.Leu20= Single submitter
p.Leu249= Single submitter
p.Leu301= Single submitter
p.Leu312= Single submitter
p.Leu325= Single submitter
p.Leu425= Single submitter
p.Leu54= Single submitter
p.Leu577= Single submitter
p.Leu62= Single submitter
p.Leu63= Single submitter
p.Leu638= Single submitter
p.Leu664= Single submitter
p.Leu666= Single submitter
p.Leu7= Single submitter
p.Leu700= Single submitter
p.Leu724= Single submitter
p.Leu739= Single submitter
p.Leu796= Single submitter

Uncertain significance 265

c.986+3G>A Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
c.*2124T>A Multiple submitters junctional epidermolysis bullosa with pyloric atresia
c.*65C>G Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala1024Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala321Val Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala491Val Multiple submitters Inborn genetic diseases ⚠
p.Ala90Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg19Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg484Cys Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg484His Multiple submitters Inborn genetic diseases ⚠
p.Arg578His Multiple submitters Inborn genetic diseases ⚠
p.Arg594His Multiple submitters Inborn genetic diseases ⚠
p.Arg902Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg913Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg942Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn284Tyr Multiple submitters Inborn genetic diseases
p.Asn635Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn931Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn992Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp102Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp308His Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Cys928Arg Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly279Arg Multiple submitters junctional epidermolysis bullosa with pyloric atresia ⚠
p.Gly311Ala Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly311Asp Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly329Arg Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly994= Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Gly994Asp Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile367Val Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile395Thr Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile657Val Multiple submitters Inborn genetic diseases ⚠
p.Ile769Val Multiple submitters Inborn genetic diseases ⚠
p.Ile887Met Multiple submitters Inborn genetic diseases ⚠
p.Ile951Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu739Ile Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu839Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu926Pro Multiple submitters junctional epidermolysis bullosa with pyloric atresia ⚠
p.Lys1043Asn Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia
p.Lys547Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys967Thr Multiple submitters junctional epidermolysis bullosa with pyloric atresia ⚠
p.Met440Val Multiple submitters Inborn genetic diseases ⚠
p.Met50Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro105Ser Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Pro40Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro40Leu Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ser929Gly Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr143Met Multiple submitters Inborn genetic diseases ⚠
p.Thr506Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr925Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr401Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr640Cys Multiple submitters Inborn genetic diseases ⚠
p.Val33Met Multiple submitters Inborn genetic diseases ⚠
p.Val351Leu Multiple submitters epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Val932Leu Multiple submitters Inborn genetic diseases ⚠
c.1388+4T>A Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
c.1388+5G>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.1549+6T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.1970+3A>G Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
c.2324+9T>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.2679+13A>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.307+4_307+5dup Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
c.3232-2317_3232-2316del Single submitter
c.986+18T>G Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
c.-122C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.-156G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.-28C>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*101G>C Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
c.*1108A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1221C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1348C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1383C>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1413T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1442T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1520T>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1656G>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1795C>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1883C>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*1935G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*2081G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*2285G>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*2291G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*2315A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*308C>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*435A>T Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*50G>A Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
c.*574C>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*648G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*678T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*703G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*719T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*776T>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*782A>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*867T>C Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*873A>G Single submitter junctional epidermolysis bullosa with pyloric atresia
c.*97G>A Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Ala1024Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala14Thr Single submitter Inborn genetic diseases ⚠
p.Ala14Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala283Thr Single submitter ⚠
p.Ala396Thr Single submitter Inborn genetic diseases ⚠
p.Ala3Thr Single submitter Inborn genetic diseases ⚠
p.Ala437Thr Single submitter Inborn genetic diseases ⚠
p.Ala451Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ala488Val Single submitter Inborn genetic diseases ⚠
p.Ala507Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala948Val Single submitter ⚠
p.Ala977Thr Single submitter Inborn genetic diseases
p.Ala983Pro Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ala983Val Single submitter Inborn genetic diseases ⚠
p.Arg148Gln Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Arg153Gln Single submitter ⚠
p.Arg153Trp Single submitter ⚠
p.Arg162Ser Single submitter Inborn genetic diseases ⚠
p.Arg218Cys Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg29Trp Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg368Cys Single submitter ⚠
p.Arg368His Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg444Gln Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg444Leu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg465Gln Single submitter Inborn genetic diseases ⚠
p.Arg465Trp Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
p.Arg540Gln Single submitter Inborn genetic diseases ⚠
p.Arg594Cys Single submitter Inborn genetic diseases ⚠
p.Arg594Pro Single submitter Inborn genetic diseases ⚠
p.Arg91Pro Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Arg96Gln Single submitter Inborn genetic diseases
p.Asn284Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn32Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn541His Single submitter Inborn genetic diseases ⚠
p.Asn598Ser Single submitter Inborn genetic diseases ⚠
p.Asn630Ser Single submitter ⚠
p.Asn648Thr Single submitter ⚠
p.Asn778Ser Single submitter Inborn genetic diseases ⚠
p.Asn781Asp Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn781Ile Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn781Ser Single submitter Inborn genetic diseases ⚠
p.Asn78Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn838Thr Single submitter Inborn genetic diseases ⚠
p.Asn861Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asn861Tyr Single submitter Inborn genetic diseases
p.Asn933Lys Single submitter Inborn genetic diseases ⚠
p.Asn958Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Asp104Glu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asp166Asn Single submitter Inborn genetic diseases ⚠
p.Asp308Asn Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asp39Glu Single submitter ⚠
p.Asp449Glu Single submitter Inborn genetic diseases ⚠
p.Asp610Gly Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asp618= Single submitter
p.Asp671Gly Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Asp693Asn Single submitter Inborn genetic diseases ⚠
p.Asp706Ala Single submitter Inborn genetic diseases ⚠
p.Asp911Gly Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Cys131Tyr Single submitter ⚠
p.Cys175Tyr Single submitter Inborn genetic diseases ⚠
p.Cys496Trp Single submitter Inborn genetic diseases ⚠
p.Cys643Gly Single submitter Inborn genetic diseases ⚠
p.Cys737Arg Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Cys86fs Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Gln53Glu Single submitter Inborn genetic diseases
p.Gln589Arg Single submitter Inborn genetic diseases ⚠
p.Gln649Glu Single submitter ⚠
p.Gln854Arg Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Glu111Lys Single submitter Inborn genetic diseases ⚠
p.Glu247Asp Single submitter Inborn genetic diseases ⚠
p.Glu283fs Single submitter junctional epidermolysis bullosa with pyloric atresia
p.Glu663Gly Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Glu920Lys Single submitter Inborn genetic diseases ⚠
p.Gly1040Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Gly15Glu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly391Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Gly511Arg Single submitter Inborn genetic diseases ⚠
p.Gly811Glu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.His1049Asp Single submitter
p.His140Asp Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.His245Arg Single submitter Inborn genetic diseases ⚠
p.His300Tyr Single submitter ⚠
p.Ile1017Leu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile1035Met Single submitter Inborn genetic diseases ⚠
p.Ile1035Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile268Thr Single submitter Inborn genetic diseases ⚠
p.Ile274Asn Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile367Phe Single submitter Inborn genetic diseases ⚠
p.Ile379Thr Single submitter Inborn genetic diseases
p.Ile387Met Single submitter ⚠
p.Ile436Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ile516Val Single submitter ⚠
p.Ile657Leu Single submitter Inborn genetic diseases ⚠
p.Ile701Met Single submitter Inborn genetic diseases ⚠
p.Ile830del Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ile951Thr Single submitter Inborn genetic diseases ⚠
p.Ile973Met Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ile988Thr Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu1019Pro Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu325Phe Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu369Arg Single submitter Inborn genetic diseases ⚠
p.Leu43Ile Single submitter Inborn genetic diseases ⚠
p.Leu497Pro Single submitter Inborn genetic diseases ⚠
p.Leu533Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu600Arg Single submitter Inborn genetic diseases
p.Leu600Phe Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu61= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Leu622Val Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu636Phe Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Leu753= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Leu865Phe Single submitter Inborn genetic diseases ⚠
p.Leu926Phe Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Lys1046Arg Single submitter Inborn genetic diseases
p.Lys266Asn Single submitter Inborn genetic diseases ⚠
p.Lys426Glu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Lys59Arg Single submitter Inborn genetic diseases ⚠
p.Lys59Thr Single submitter Inborn genetic diseases ⚠
p.Lys870Glu Single submitter Inborn genetic diseases ⚠
p.Lys922Thr Single submitter Inborn genetic diseases
p.Met115Leu Single submitter
p.Met296Thr Single submitter Inborn genetic diseases ⚠
p.Met355Arg Single submitter Inborn genetic diseases ⚠
p.Met355Thr Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Met820Thr Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Phe185Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Phe307Leu Single submitter Inborn genetic diseases ⚠
p.Phe462Leu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Pro1063Leu Single submitter Inborn genetic diseases
p.Pro366Ser Single submitter Inborn genetic diseases
p.Pro366Thr Single submitter
p.Pro430His Single submitter Inborn genetic diseases ⚠
p.Pro492Ser Single submitter Inborn genetic diseases ⚠
p.Pro682Arg Single submitter Inborn genetic diseases ⚠
p.Pro688Leu Single submitter Inborn genetic diseases ⚠
p.Pro742Ser Single submitter Inborn genetic diseases ⚠
p.Pro842Leu Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Ser1011Leu Single submitter Inborn genetic diseases ⚠
p.Ser593Phe Single submitter Inborn genetic diseases ⚠
p.Ser634Gly Single submitter Inborn genetic diseases ⚠
p.Ser653Pro Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ser798Leu Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
p.Ser860Arg Single submitter Inborn genetic diseases ⚠
p.Ser889Thr Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Ser916Tyr Single submitter ⚠
p.Thr106Arg Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr243Ile Single submitter Inborn genetic diseases ⚠
p.Thr28Ile Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr521= Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia
p.Thr549Ile Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr549Pro Single submitter ⚠
p.Thr703Met Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr775Ile Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr813Pro Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr848Ile Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
p.Thr89Ser Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Thr95Met Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Tyr434His Single submitter Inborn genetic diseases ⚠
p.Tyr923Ser Single submitter ⚠
p.Val1001Met Single submitter Inborn genetic diseases ⚠
p.Val119Ile Single submitter Inborn genetic diseases ⚠
p.Val129Met Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Val476Ala Single submitter epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Val476Gly Single submitter junctional epidermolysis bullosa with pyloric atresia ⚠
p.Val561Gly Single submitter Inborn genetic diseases ⚠
p.Val597Glu Single submitter Inborn genetic diseases ⚠
p.Val678Ala Single submitter ⚠
p.Val792Ala Single submitter Inborn genetic diseases ⚠
p.Val808Met Single submitter Inborn genetic diseases
p.Arg536Gly No assertion criteria epidermolysis bullosa, junctional 6, with pyloric atresia ⚠
p.Tyr434Ser No assertion criteria ⚠