| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S1, BLOC1S1-RDH5 +1 more (A2P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S1, BLOC1S1-RDH5 +1 more (R13W) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S1, BLOC1S1-RDH5 +1 more (R6P) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant +2 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | BLOC1S1, BLOC1S1-RDH5 +1 more (R9H) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | BLOC1S1, BLOC1S1-RDH5 +1 more (G7D) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (splice donor variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | ITGA7-related disorder | |
| | | Single nucleotide variant (intron variant) | ITGA7-related disorder | |
| | | Single nucleotide variant (intron variant) | ITGA7-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ITGA7-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (intron variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | ITGA7, LOC126861535 (Q718* +13 more) | Single nucleotide variant (nonsense) | 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 +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | 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 (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | 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 +1 more) | 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 (synonymous variant +1 more) | 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 | |
| | | Deletion (frameshift variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 (synonymous variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Deletion (frameshift variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Duplication (frameshift variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | 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 (synonymous variant +2 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | ITGA7, LOC126861535 (Q646fs +13 more) | Deletion (frameshift variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | 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 (synonymous variant +2 more) | 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 +2 more) | 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 | |
| | | Deletion (frameshift 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 | |
| | | Deletion (frameshift 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 | |
| | | 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 (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) | 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 +2 more) | 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 (synonymous variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Indel (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Inversion (missense variant) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | ITGA7-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |