ClinVar for MedGen (Select 811125) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1180451	NM_021956.5(GRIK2):c.1979C>G (p.Thr660Arg)	GRIK2 (T660R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures +3 more	GPathogenic
Select item 870382	NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys)	GRIK2 (T660K)	Single nucleotide variant (missense variant)	GRIK2-related neurodevelopmental disorder	GPathogenic