| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932082, LOC129932083 +561 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932021, LOC129932022 +478 more | Copy number loss | See cases | |
| | LOC129932003, TOR1AIP1 +1 more | Deletion | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (A2T) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (D4fs) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (G3S) | Single nucleotide variant (missense 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 | |
| | LOC112577517, TOR1AIP1 (G5W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R6G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (R7Q) | 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 (E9K) | 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 (A10E) | 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 (R12Q) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E13K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | LOC112577517, TOR1AIP1 (E13V) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (W15R) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | 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 (V19I) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (V19D) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R22fs) | Duplication (frameshift variant) | Centronuclear myopathy | |
| | LOC112577517, TOR1AIP1 (P21L) | 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) | not provided | |
| | LOC112577517, TOR1AIP1 (R22G) | 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 | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | |
| | LOC112577517, TOR1AIP1 (A23D) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | TOR1AIP1-related disorder | |
| | LOC112577517, TOR1AIP1 (P24A) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | LOC112577517, TOR1AIP1 (P24R) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E27Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (E27K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E27V) | 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 (E27D) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (G28E) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (G30R) | 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 (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (P34H) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (G38S) | 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 (S40T) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC112577517, TOR1AIP1 (D41N) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (D41Y) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (D41E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (A42V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (A44V) | Single nucleotide variant (missense variant) | not provided | |
| | LOC112577517, TOR1AIP1 (Y45S) | Single nucleotide variant (missense 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 | |
| | LOC112577517, TOR1AIP1 (T47P) | 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 (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | TOR1AIP1, LOC112577517 (P48S) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (P49L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (S50*) | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (Q52L) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +1 more | GConflicting classifications of pathogenicity |
| | | 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 | |
| | LOC112577517, TOR1AIP1 (R55G) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R55Q) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R58K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | TOR1AIP1, LOC112577517 (F59L) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (S60W) | 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 (E62K) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 +1 more (E62fs) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (P64fs) | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (P63L) | 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 (V66E) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (D69Y) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (E77G) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R78T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC112577517, TOR1AIP1 (V81M) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y +2 more | |
| | | 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 | |
| | LOC112577517, TOR1AIP1 (K83N) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | LOC112577517, TOR1AIP1 (R84L) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | 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 | |
| | LOC112577517, TOR1AIP1 (E88Q) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |