| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Deletion (3 prime UTR variant) | Congenital Muscular Dystrophy, ITGA7-related | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Deletion (frameshift variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | ITGA7-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Deletion (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |