ClinVar for MedGen (Select 57467) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523433	NM_000501.4(ELN):c.898A>T (p.Thr300Ser)	ELN (T300S +6 more)	Single nucleotide variant (missense variant)	not provided +9 more	GUncertain significance
Select item 5591	NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	CHEK2 (I157T +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +15 more	GConflicting classifications of pathogenicity; risk factor