ClinVar for MedGen (Select 869265) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684511	NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter)	CECR2 (R598* +1 more)	Single nucleotide variant (nonsense)	Autism +4 more	GUncertain significance
Select item 6350	NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)	SCN1A-AS1, SCN9A (I848T +1 more)	Single nucleotide variant (missense variant)	SCN9A-related peripheral neuropathies associated with increased pain +3 more	GPathogenic