Sugi Variant

Sugi Variant/ITGA7

ITGA7 — 1038 ClinVar variants

All ClinVar germline ITGA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 424 flagged for review →

24 Pathogenic · 13 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 31 Conflicting · 64 Benign · 23 Benign/Likely benign · 401 Likely benign · 459 Uncertain significance

Full ITGA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 424

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 15

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

Predictors lean, ClinVar uncertain 323

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 323

Predictors split 86

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

All ITGA7 variants

Pathogenic 24

  • p.Ala940fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg173fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg486Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asn289fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asn392fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln63Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln759fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln816Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln831Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln83fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln891fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu777fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu917fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile589fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu443fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu904fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr521fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr656fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Trp10Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Trp69Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Tyr358fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-2A>G No assertion criteria congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+2T>C No assertion criteria congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly402fs No assertion criteria congenital muscular dystrophy due to integrin alpha-7 deficiency

Pathogenic/Likely pathogenic 13

  • p.Ala12fs Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg143Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg149Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg569Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg604Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg798Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln76Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln83Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly363fs Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His364fs Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile483fs Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Tyr1025Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Tyr356Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency

Likely pathogenic 23

  • c.1887+2T>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln921Ter Multiple submitters
  • p.Glu155Ter Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1410-2A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2004-1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+2T>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2197-2A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-2A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.334+1G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.670+1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.790+1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala33fs Single submitter
  • p.Ala728fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala85fs Single submitter
  • p.Asp697fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln492Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln609Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu45fs Single submitter Abnormal brain morphology
  • p.Gly340fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu58fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Pro397fs Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Tyr877Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency

Conflicting classifications of pathogenicity 31

  • c.1568-9A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1888-3C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2357+1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2958+16G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-1G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.998+18C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala423Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala574= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg1014Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg1088Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1108Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg800His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg913Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg927Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn494Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln1090Ter Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu882Lys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu884Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly179= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly270= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly857Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile267Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile338Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile765= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile765Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Leu536Phe Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met114Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Phe439= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Pro95Leu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser696= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr656Ala Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠

Benign 64

Benign/Likely benign 23

  • c.1281+13G>A Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1410-3del Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-14C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1568-18T>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1737+16T>G Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-6C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-5C>A Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.791-7C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg537Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp336= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Cys16Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly186= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly610Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile153Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile901Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu1050= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu23= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu904= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Pro1128= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Pro553= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr13Ile Multiple submitters
  • p.Val294= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Val801Ile Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency

Likely benign 401

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

  • c.1409+11C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1505+14G>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1505+86G>A Multiple submitters
  • c.1567+16C>G Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-23G>A Multiple submitters
  • c.2536-15C>G Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2536-19T>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2713-63G>T Multiple submitters
  • c.2844+19C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2844+36C>T Multiple submitters
  • c.2844+46C>T Multiple submitters
  • c.2958+15C>T Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2958+56G>A Multiple submitters
  • c.2959-85A>G Multiple submitters
  • c.3057+12G>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-175C>T Multiple submitters
  • c.670+15G>A Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-130T>C Multiple submitters
  • c.790+261G>A Multiple submitters
  • c.791-163G>C Multiple submitters
  • c.998+19G>A Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.998+66C>A Multiple submitters
  • c.-12G>A Multiple submitters
  • c.-18G>T Multiple submitters
  • p.Ala203= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala204Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala341= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala615= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp1121= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu47Lys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile488= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu1058= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu166= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu611= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu875= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Pro1124= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ser21= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ser318= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ser739= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ser852= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ser938= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr560= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Val421= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Val422= Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1192+8G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1193-11G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1193-14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1281+12C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1281+19A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1282-13G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1282-4C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1282-5T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+10T>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+7C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+7C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+9C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+9C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1410-8A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1505+13C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-10G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-4G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-6C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+11T>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+15C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+15C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+16C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+16C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+17C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+18T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+65G>C Single submitter
  • c.1567+8C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+9G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1568-10C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1568-6C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1737+14C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-10C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-12T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-4C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-8C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1738-9T>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1887+12T>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1887+14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1887+17G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1888-263C>T Single submitter
  • c.1888-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2003+11C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2003+267G>C Single submitter
  • c.2004-14G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2004-9A>T Single submitter
  • c.206+14C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+16C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+17G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+18C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.207-15_207-10del Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.207-17C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.207-20G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.207-263GT[15] Single submitter
  • c.207-9A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2196+14G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2196+15G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2196+18G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2196+19G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2197-18C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2197-7A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2197-8del Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2278-14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2357+10G>T Single submitter
  • c.2357+12G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2357+13G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2357+17C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2357+18G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2358-16C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2358-4C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2432+11C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2535+20C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2536-13C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2536-17CT[2] Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2536-6C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2536-8T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+10A>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+12G>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+18G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+19T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+20G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2712+9T>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2713-16C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2713-8G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2713-9C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2844+17C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2844+20G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2845-16C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2845-18G>A Single submitter
  • c.2845-20C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2845-319G>A Single submitter
  • c.2845-9T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2958+13del Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2958+9A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-13C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-17C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-4T>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-6C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-7C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2959-8dup Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+12G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+12G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+13G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+15T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+16G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+19_3057+20del Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+20G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+20G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+7T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3057+8G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-13C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-20A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-4C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-6C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3058-9G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3183+15_3183+17del Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3183+17G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3183+20C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3183+244A>G Single submitter
  • c.3184-103C>T Single submitter
  • c.3184-10G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-16C>G Single submitter
  • c.3184-17G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-18G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-6T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.334+19A>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.334+8C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.334+8C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.335-11C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.414+16C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.414+17A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.414+222A>T Single submitter
  • c.414+38GT[10] Single submitter
  • c.415-123CATGTG[4] Single submitter
  • c.415-19C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-20C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-6C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.670+13T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.670+14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-10C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-14C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-16A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-295G>A Single submitter
  • c.671-370A>G Single submitter
  • c.671-5C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-5C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-9C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.790+19C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.790+7A>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.790+9G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.791-10C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.791-12C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.791-19T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.791-4_791-3dup Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.85+3855dup Single submitter
  • c.85+4120G>A Single submitter
  • c.998+11A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.998+9G>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.999-10C>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.999-15T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.-9G>A Single submitter
  • p.Ala1016= Single submitter
  • p.Ala1030= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1044= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1068= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1073= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1080= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1114= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala2= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala216= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala254= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala258= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala276= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala466= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala484= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala4Thr Single submitter
  • p.Ala557= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala57= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala743= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala799= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala85= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala970= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg173= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg287= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg372= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg5= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg534= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg535= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg601= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg65= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg651= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg651His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg898= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg914= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg969= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asn1010= Single submitter
  • p.Asn260= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asn581= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asn981= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp1129= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp151= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp169= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp235= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp256= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp332= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp37= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp398= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp573= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp669= Single submitter
  • p.Cys374= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Cys895= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Cys950= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln361= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln63= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln816= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gln921= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu25= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu314= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu47= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu781= Single submitter
  • p.Glu843= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu868= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Glu926= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly1063= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly11= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly1135= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly20= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly200= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly353= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly362= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly431= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly497= Single submitter
  • p.Gly53= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly538= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly610= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly850= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly857= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly885= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly977= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His1070= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His1079= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His290= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His745= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His867= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile1002= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile108= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile160= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile399= Single submitter
  • p.Ile474= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile803= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu1054= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Leu170= Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency

Uncertain significance 459

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

  • c.2535+5G>C Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1053Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala1068Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala1080Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala1137Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala288Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala2Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala302Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala386Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala463Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala466Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala523Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala530Glu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala530Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala530Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala606Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala810Pro Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala85Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala93Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala951Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala970Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala970Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala990Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1014Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1067Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1067Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1085Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1085Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1108Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg143Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg149Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg157Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg162His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg173Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg173Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg187Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg249Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg287Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg287Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg298Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg304His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg315Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg315His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg347His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg347Leu Multiple submitters ⚠
  • p.Arg372Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg43Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg534Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg537Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg542Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg542His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg587Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg5Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg603Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg604Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg627Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg653Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg657Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg727Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg798Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg834Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg87Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg87His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg913Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg914Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg914Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg952Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg952Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg969Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg978His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg999Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn1001Ile Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn1103Lys Multiple submitters ITGA7-related disorder ⚠
  • p.Asn35Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp1129Asn Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp177Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp489Asn Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp504Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp640Asn Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Cys103Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln76Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln849Glu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu1125Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu1125Lys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu308Lys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu995Lys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly1122Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly1130Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly135Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly224Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly255Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly319Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly382Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly3Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly435Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly440Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly610Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly757Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly826Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.His1079Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.His191Tyr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.His364Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.His415Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.His479Gln Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.His499Tyr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile1008Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile267Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile488Phe Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ile589Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ile997Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Leu1100Pro Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Leu679Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Leu818Phe Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Leu96Trp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Lys223Arg Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met114Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met1Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Met380Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met864Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met879Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Met932Val Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Phe227Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Phe860Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Pro1112Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Pro251Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Pro665Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Pro897Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Pro95Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser127Thr Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser269Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser417Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser487Asn Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser487Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser547Asn Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser547Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser558Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser696Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser852Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ser908Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr1096Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr156Lys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Thr201Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr661Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr761Ile Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr761Ser Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr786Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr845Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Thr954Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Trp1038Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Trp69Gly Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr1078Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr211Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr220Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr414His Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr526Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Tyr988Cys Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val1004Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val1022Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val1040Phe Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val295Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val355Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val428Ala Multiple submitters
  • p.Val561Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val591Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val72Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val823Met Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val824Leu Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val881Asp Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Val975Ala Multiple submitters congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • c.1282-11_1282-10inv Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1409+5G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1410-10C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1410-7A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1505+6G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1506-4G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.1567+3G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2003+5G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2003+6G>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2003+7G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+3G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.206+4A>T Single submitter
  • c.2277+4G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.2958+5G>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-3T>C Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-5T>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.3184-6T>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-3C>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.415-3C>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.671-285A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • c.671-306C>T Single submitter ⚠
  • c.671-368C>T Single submitter ⚠
  • c.671-401C>T Single submitter ⚠
  • c.790+5G>A Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.998+4A>G Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • c.998+5G>T Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala1053Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala1073Asp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala1119Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala171Val Single submitter ⚠
  • p.Ala202Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Ala258Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala285Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala288Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala341Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala403Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala466Pro Single submitter ⚠
  • p.Ala496Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala523Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala530Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala574Ser Single submitter ⚠
  • p.Ala652Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala652Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala728Asp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala79Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala85Thr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Ala93Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg1109Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg129Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg129Gly Single submitter ⚠
  • p.Arg129Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg157Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg249Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg275Leu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg275Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg304Leu Single submitter ⚠
  • p.Arg315Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg347Cys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg372Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg43Cys Single submitter ⚠
  • p.Arg472Ser Single submitter ⚠
  • p.Arg506Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg534Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg534Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg548Cys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg548His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg569Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg601Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg603Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg60Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg60Trp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg627Gln Single submitter ⚠
  • p.Arg651Cys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg653His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg911Thr Single submitter ⚠
  • p.Arg927Gln Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg927Leu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg969His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Arg978Cys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Arg999Leu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn230His Single submitter ⚠
  • p.Asn230Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn392Ser Single submitter ⚠
  • p.Asn452Lys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn619Ser Single submitter ⚠
  • p.Asn862Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn871Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn900Ser Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asn945Lys Single submitter ⚠
  • p.Asp109Asn Single submitter ⚠
  • p.Asp208Asn Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp235Tyr Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp235Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp237Asn Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp378Asn Single submitter ⚠
  • p.Asp406Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp531Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Asp573Glu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp669Asn Single submitter ⚠
  • p.Asp669Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp707Asn Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp707Glu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp730His Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp907Asn Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Asp907Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Cys140Tyr Single submitter ⚠
  • p.Gln148His Single submitter ⚠
  • p.Gln152Arg Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln199Glu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln598Pro Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gln67Arg Single submitter ⚠
  • p.Gln831Lys Single submitter ⚠
  • p.Gln887Lys Single submitter ⚠
  • p.Glu100Lys Single submitter ⚠
  • p.Glu25Gly Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu278Lys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu314Asp Single submitter ⚠
  • p.Glu350Asp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu580Lys Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu741Lys Single submitter ⚠
  • p.Glu804Asp Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Glu827Lys Single submitter
  • p.Glu833Lys Single submitter ⚠
  • p.Glu986Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly1097Val Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency
  • p.Gly125Glu Single submitter ⚠
  • p.Gly161Val Single submitter ⚠
  • p.Gly215Glu Single submitter congenital muscular dystrophy due to integrin alpha-7 deficiency ⚠
  • p.Gly270Arg Single submitter ⚠
  • p.Gly270Glu Single submitter ⚠
  • p.Gly340Val Single submitter ⚠