| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130004775, NHLRC2 (Y39C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130004775, NHLRC2 (Q40R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130004775, NHLRC2 (E33del) | Deletion (inframe_deletion) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | | Single nucleotide variant (missense variant) | Fibrosis, neurodegeneration, and cerebral angiomatosis | |
| | LOC130004775, NHLRC2 (M1V) | Single nucleotide variant (missense variant +1 more) | Fibrosis, neurodegeneration, and cerebral angiomatosis | GConflicting classifications of pathogenicity |
| | LOC130004775, NHLRC2 (Q50*) | Single nucleotide variant (nonsense) | not provided +1 more | |
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