| | LOC112577517, TOR1AIP1 (G5W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (R6G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (W15S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (G16V) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | |
| | LOC112577517, TOR1AIP1 (P24A) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +3 more | GConflicting classifications of pathogenicity |
| | LOC112577517, TOR1AIP1 (E27Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (S40T) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more | |
| | LOC112577517, TOR1AIP1 (D41E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (A42V) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | |
| | LOC112577517, TOR1AIP1 (P49L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (V81M) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | LOC112577517, TOR1AIP1 (A103T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (L106F) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TOR1AIP1, LOC112577517 (Q117L) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC112577517, TOR1AIP1 (E120K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (R125G) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | |
| | LOC112577517, TOR1AIP1 (S135L) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more | |
| | LOC112577517, TOR1AIP1 (R148T) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC112577517, TOR1AIP1 (S156F) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC112577517, TOR1AIP1 (S157P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |