Related gene-specific medical variations for Gene (Select 2897) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102410	NM_001330994.2(GRIK1):c.911C>A (p.Ala304Asp)	GRIK1, LOC126653339 (A248D +2 more)	Single nucleotide variant (missense variant)	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 3062438	GRCh37/hg19 21q21.3(chr21:31006833-31237793)x1	GRIK1	Copy number loss	not specified	GUncertain significance
Select item 2685660	GRCh37/hg19 21q21.3(chr21:31006833-31237793)x1	GRIK1	Copy number loss	not provided	GUncertain significance
Select item 2612634	NM_001330994.2(GRIK1):c.809A>G (p.Tyr270Cys)	GRIK1, LOC126653339 (Y128C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540964	NM_001330994.2(GRIK1):c.862C>A (p.Pro288Thr)	GRIK1, LOC126653339 (P146T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462391	NM_001330994.2(GRIK1):c.925G>A (p.Glu309Lys)	GRIK1, LOC126653339 (E167K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374556	NM_001330994.2(GRIK1):c.868G>A (p.Val290Met)	GRIK1, LOC126653339 (V148M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809362	GRCh37/hg19 21q21.3(chr21:30911091-31189310)x1	GRIK1	Copy number loss	not provided	GUncertain significance
Select item 1526713	GRCh37/hg19 21q21.3(chr21:31006832-31237793)	GRIK1	Copy number loss	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
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
Select item 442355	GRCh37/hg19 21q21.3(chr21:30847948-31232475)x1	GRIK1	Copy number loss	See cases	GUncertain significance