ClinVar for MedGen (Select 18552) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161400	NM_000551.4(VHL):c.235C>T (p.Arg79Cys)	VHL (R79C)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GUncertain significance
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity