Related gene-specific medical variations for Gene (Select 2890) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237535	NM_000827.4(GRIA1):c.210G>A (p.Met70Ile)	GRIA1 (M1I +3 more)	Single nucleotide variant (missense variant +3 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 3064994	NM_000827.4(GRIA1):c.82+1305G>T	GRIA1 (C25F +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 67	GBenign
Select item 2689158	NM_000827.4(GRIA1):c.1496G>A (p.Arg499Gln)	GRIA1 (R404Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685180	GRCh37/hg19 5q33.2(chr5:153143502-153310225)x1	GRIA1	Copy number loss	not provided	GUncertain significance
Select item 2672256	NM_000827.4(GRIA1):c.82+1339G>A	GRIA1	Single nucleotide variant (synonymous variant +1 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 2672102	NM_000827.4(GRIA1):c.341C>T (p.Pro114Leu)	GRIA1 (P114L +4 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 67	GUncertain significance
Select item 2432274	NM_000827.4(GRIA1):c.1264C>A (p.Leu422Ile)	GRIA1 (L327I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432273	NM_000827.4(GRIA1):c.1157A>G (p.Asp386Gly)	GRIA1 (D291G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2432272	NM_000827.4(GRIA1):c.788C>T (p.Pro263Leu)	GRIA1 (P168L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429796	NM_000827.4(GRIA1):c.1444G>T (p.Val482Phe)	GRIA1 (V387F +6 more)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 1676545	NM_001114183.2(GRIA1):c.1523C>A (p.Pro508Gln)	GRIA1 (P413Q +6 more)	Single nucleotide variant	Intellectual developmental disorder, autosomal dominant 67	GLikely pathogenic
Select item 1341922	NM_000827.4(GRIA1):c.1079G>A (p.Arg360His)	GRIA1 (R265H +6 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 983361	NM_000827.4(GRIA1):c.1034G>A (p.Arg345Gln)	GRIA1 (R250Q +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 931543	NM_000827.4(GRIA1):c.1687T>G (p.Tyr563Asp)	GRIA1 (Y494D +6 more)	Single nucleotide variant (missense variant +1 more)	See cases	GUncertain significance
Select item 814753	GRCh37/hg19 5q33.2(chr5:152789843-153096602)x1	GRIA1	Copy number loss	not provided	GLikely benign