| | LOC112577517, TOR1AIP1 (E27Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (W15S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (L106F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (A103T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (P49L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | TOR1AIP1-related condition | |
| | | Single nucleotide variant (missense variant) | TOR1AIP1-related condition | |
| | | Single nucleotide variant (synonymous variant) | TOR1AIP1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (Q117H) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | TOR1AIP1-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (G5W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (R6G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (D4G) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | TOR1AIP1, LOC112577517 (R109K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R22K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (A44V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC112577517, TOR1AIP1 (K83N) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (S157P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (E120K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (D41E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E120D) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (T47I) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (Y45S) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R46K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E97G) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R91W) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E62K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Insertion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |