Related gene-specific medical variations for Gene (Select 130065321) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3080841	NM_023935.3(DDRGK1):c.89C>T (p.Ser30Leu)	DDRGK1, ITPA +1 more (S30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2801083	NM_023935.3(DDRGK1):c.91+19C>G	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2166514	NM_023935.3(DDRGK1):c.65C>T (p.Thr22Ile)	DDRGK1, ITPA +1 more (T22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005574	NM_023935.3(DDRGK1):c.73C>T (p.Arg25Trp)	DDRGK1, ITPA +1 more (R25W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986327	NM_023935.3(DDRGK1):c.54C>T (p.Ile18=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953932	NM_023935.3(DDRGK1):c.86C>T (p.Ala29Val)	DDRGK1, ITPA +1 more (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670724	NM_023935.3(DDRGK1):c.78C>T (p.Gly26=)	ITPA, LOC130065321 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628612	NM_023935.3(DDRGK1):c.91+9T>A	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1347351	NM_023935.3(DDRGK1):c.80G>A (p.Arg27Gln)	DDRGK1, ITPA +1 more (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance