Related gene-specific medical variations for Gene (Select 2894) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282697	NM_017551.3(GRID1):c.2666C>T (p.Ala889Val)	GRID1, GRID1-AS1 (A889V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053413	NM_017551.3(GRID1):c.78C>A (p.Ile26=)	GRID1, LOC130004225	Single nucleotide variant (synonymous variant)	GRID1-related disorder	GLikely benign
Select item 2689160	NM_017551.3(GRID1):c.2636G>A (p.Arg879His)	GRID1, GRID1-AS1 (R879H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2590488	NM_017551.3(GRID1):c.2939C>T (p.Pro980Leu)	GRID1, GRID1-AS1 (P980L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561444	NM_017551.3(GRID1):c.2753G>A (p.Arg918Gln)	GRID1, GRID1-AS1 (R918Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502410	NM_017551.3(GRID1):c.2950C>T (p.Pro984Ser)	GRID1, GRID1-AS1 (P984S)	Single nucleotide variant (missense variant)	GRID1-associated neurodevelopmental disorder	GUncertain significance
Select item 2502409	NM_017551.3(GRID1):c.2855C>T (p.Pro952Leu)	GRID1, GRID1-AS1 (P952L)	Single nucleotide variant (missense variant)	GRID1-associated neurodevelopmental disorder	GUncertain significance
Select item 2502408	NM_017551.3(GRID1):c.2690C>T (p.Ser897Leu)	GRID1, GRID1-AS1 (S897L)	Single nucleotide variant (missense variant)	GRID1-associated neurodevelopmental disorder	GUncertain significance
Select item 2207898	NM_017551.3(GRID1):c.2984G>A (p.Gly995Asp)	GRID1, GRID1-AS1 (G995D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808340	GRCh37/hg19 10q23.1-23.2(chr10:87703183-87911215)x1	GRID1	Copy number loss	not provided	GUncertain significance
Select item 979279	GRCh37/hg19 10q23.1(chr10:87584255-87833444)x1	GRID1	Copy number loss	not provided	GUncertain significance
Select item 563733	GRCh37/hg19 10q23.1-23.2(chr10:87662402-87990985)x3	GRID1	Copy number gain	not provided	GUncertain significance
Select item 157182	NM_017551.3(GRID1):c.520+7072_520+11519del	GRID1	Deletion (intron variant)	Gestational diabetes mellitus uncontrolled	Gnot provided