Related gene-specific medical variations for Gene (Select 100379661) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282735	NM_001330994.2(GRIK1):c.1219G>C (p.Val407Leu)	GRIK1, GRIK1-AS2 (V351L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3102395	NM_001330994.2(GRIK1):c.1180A>C (p.Ser394Arg)	GRIK1, GRIK1-AS2 (S252R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102394	NM_001330994.2(GRIK1):c.1156A>G (p.Lys386Glu)	GRIK1, GRIK1-AS2 (K244E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102393	NM_001330994.2(GRIK1):c.1152G>C (p.Leu384Phe)	GRIK1, GRIK1-AS2 (L328F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785671	NM_001330994.2(GRIK1):c.1251+3T>A	GRIK1, GRIK1-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 733036	NM_001330994.2(GRIK1):c.1161T>C (p.Asp387=)	GRIK1, GRIK1-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar