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| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Very long chain acyl-CoA dehydrogenase deficiency +2 more | GConflicting classifications of pathogenicity |
| | GLA, RPL36A-HNRNPH2 (A15T) | Single nucleotide variant (missense variant +2 more) | Fabry disease | |
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