Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GIMAP1-GIMAP5, GIMAP5 (P109L +2 more) | Single nucleotide variant (missense variant) | Portal hypertension +1 more | GPathogenic/Likely pathogenic |
| | GIMAP1-GIMAP5, GIMAP5 (L223F +2 more) | Single nucleotide variant (missense variant) | Portal hypertension +1 more | GPathogenic/Likely pathogenic |
| | GIMAP1-GIMAP5, GIMAP5 (I123T +2 more) | Single nucleotide variant (missense variant) | Portal hypertension +1 more | GPathogenic/Likely pathogenic |
| | GIMAP5, GIMAP1-GIMAP5 (L280P +1 more) | Single nucleotide variant (missense variant) | Portal hypertension, noncirrhotic, 2 +1 more | GConflicting classifications of pathogenicity |
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