"Genetic Services Laboratory, University of Chicago"[submitter] AND "G - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435361	NM_021956.5(GRIK2):c.222T>C (p.Thr74=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 435362	NM_021956.5(GRIK2):c.472C>T (p.Arg158Cys)	GRIK2 (R158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435363	NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)	GRIK2 (P205S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 211105	NM_021956.5(GRIK2):c.672T>C (p.Phe224=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 211106	NM_021956.5(GRIK2):c.724-7del	GRIK2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 435364	NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)	GRIK2 (S297W)	Single nucleotide variant (missense variant)	GRIK2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1336607	NM_021956.5(GRIK2):c.924T>C (p.Asp308=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129177	NM_021956.5(GRIK2):c.939T>C (p.Asp313=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 435365	NM_021956.5(GRIK2):c.963T>C (p.Ala321=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 211102	NM_021956.5(GRIK2):c.1065C>T (p.Phe355=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 435372	NM_021956.5(GRIK2):c.1091A>G (p.Lys364Arg)	GRIK2 (K364R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 129169	NM_021956.5(GRIK2):c.1095+7T>C	GRIK2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 211103	NM_021956.5(GRIK2):c.1265C>T (p.Ala422Val)	GRIK2 (A422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 435366	NM_021956.5(GRIK2):c.1266G>A (p.Ala422=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 129170	NM_021956.5(GRIK2):c.1281C>G (p.Ser427=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435367	NM_021956.5(GRIK2):c.1287C>T (p.Ser429=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435371	NM_021956.5(GRIK2):c.1360T>C (p.Tyr454His)	GRIK2 (Y454H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 435368	NM_021956.5(GRIK2):c.1741A>G (p.Ile581Val)	GRIK2 (I581V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336671	NM_021956.5(GRIK2):c.2025T>G (p.Ala675=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1336412	NM_021956.5(GRIK2):c.2072T>C (p.Met691Thr)	GRIK2 (M691T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129171	NM_021956.5(GRIK2):c.2085+10G>A	GRIK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1336196	NM_021956.5(GRIK2):c.2180G>T (p.Arg727Leu)	GRIK2 (R727L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129172	NM_021956.5(GRIK2):c.2226C>A (p.Ile742=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435369	NM_021956.5(GRIK2):c.2238C>T (p.Thr746=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 435370	NM_021956.5(GRIK2):c.2303C>G (p.Thr768Ser)	GRIK2 (T768S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 129174	NM_021956.5(GRIK2):c.2312-9C>T	GRIK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 129173	NM_021956.5(GRIK2):c.2312-8T>G	GRIK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 129175	NM_021956.5(GRIK2):c.2424G>A (p.Glu808=)	GRIK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 211104	NM_021956.5(GRIK2):c.2487C>T (p.Ala829=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 624257	NM_021956.5(GRIK2):c.2508T>C (p.Phe836=)	GRIK2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 129176	NM_021956.5(GRIK2):c.2601G>A (p.Met867Ile)	GRIK2 (M867I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 1336652	NM_021956.5(GRIK2):c.2621G>A (p.Arg874Gln)	GRIK2 (R874Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 32