| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129934200, TGOLN2 (D270N +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | TGOLN2, LOC129934200 (K343R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129934201, TGOLN2 (A240G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129934201, TGOLN2 (D219H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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