ClinVar for MedGen (Select 97955) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707413	NM_000336.3(SCNN1B):c.1609C>T (p.Leu537Phe)	SCNN1B (L501F +1 more)	Single nucleotide variant (missense variant)	Opsoclonus-myoclonus syndrome	GLikely pathogenic
Select item 371805	NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	SDHA (R512* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GPathogenic/Likely pathogenic