Related gene-specific medical variations for Gene (Select 126653339) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612634	NM_001330994.2(GRIK1):c.809A>G (p.Tyr270Cys)	GRIK1, LOC126653339 (Y128C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540964	NM_001330994.2(GRIK1):c.862C>A (p.Pro288Thr)	GRIK1, LOC126653339 (P146T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462391	NM_001330994.2(GRIK1):c.925G>A (p.Glu309Lys)	GRIK1, LOC126653339 (E167K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374556	NM_001330994.2(GRIK1):c.868G>A (p.Val290Met)	GRIK1, LOC126653339 (V148M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723907	NM_001330994.2(GRIK1):c.924C>T (p.Pro308=)	GRIK1, LOC126653339	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721891	NM_001330994.2(GRIK1):c.912C>T (p.Ala304=)	GRIK1, LOC126653339	Single nucleotide variant (synonymous variant)	not provided	GBenign

ClinVar