C1970198[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435363	NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)	GRIK2 (P205S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1028233	NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)	GRIK2 (G221D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 1028234	NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)	GRIK2 (D308N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6 +1 more	GConflicting classifications of pathogenicity
Select item 1033990	NM_021956.5(GRIK2):c.969G>A (p.Met323Ile)	GRIK2 (M323I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 1033987	NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)	GRIK2 (R358L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 2441774	NM_021956.5(GRIK2):c.1095+2T>A	GRIK2	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal recessive 6 +1 more	GUncertain significance
Select item 1033988	NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)	GRIK2 (T380S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028232	NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile)	GRIK2 (M770I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 6	GUncertain significance
Select item 1033989	NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe)	GRIK2 (L875F)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual disability, autosomal recessive 6	GUncertain significance