Related gene-specific medical variations for Gene (Select 196996) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102170	NM_001012642.3(GRAMD2A):c.16C>T (p.Arg6Trp)	GRAMD2A, LOC130057465 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685522	GRCh37/hg19 15q23(chr15:72434304-72487897)x1	GRAMD2A	Copy number loss	not provided	GUncertain significance
Select item 2491616	NM_001012642.3(GRAMD2A):c.248T>G (p.Leu83Trp)	GRAMD2A, LOC121847956 (L83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469316	NM_001012642.3(GRAMD2A):c.209A>G (p.Tyr70Cys)	GRAMD2A, LOC121847956 (Y70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808840	GRCh37/hg19 15q23(chr15:72438858-72487897)x1	GRAMD2A	Copy number loss	not provided	GUncertain significance

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