Related gene-specific medical variations for Gene (Select 3704) - ClinVar

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Items: 46

	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 3064882	NM_033453.4(ITPA):c.215A>G (p.Asp72Gly)	ITPA (D114G +3 more)	Single nucleotide variant (missense variant +2 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 3064387	NM_033453.4(ITPA):c.205_207del (p.Leu69del)	ITPA (L111del +3 more)	Deletion (inframe_indel +3 more)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 3016973	NM_023935.3(DDRGK1):c.15G>T (p.Val5=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996523	NM_033453.4(ITPA):c.399G>A (p.Arg133=)	ITPA, LOC130065322 (G21E)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2907012	NM_033453.4(ITPA):c.381G>T (p.Gln127His)	ITPA, LOC130065322 (S15I +4 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2865498	NM_033453.4(ITPA):c.403C>A (p.Arg135=)	ITPA, LOC130065322	Single nucleotide variant (synonymous variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2802405	NM_033453.4(ITPA):c.396C>T (p.Phe132=)	ITPA, LOC130065322 (S20L)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
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 2432926	NM_033453.4(ITPA):c.262A>C (p.Ile88Leu)	ITPA (I47L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2415102	NM_023935.3(DDRGK1):c.20A>T (p.Tyr7Phe)	DDRGK1, ITPA (Y7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2105007	NM_033453.4(ITPA):c.411+18T>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2075083	NM_033453.4(ITPA):c.403del (p.Arg135fs)	ITPA, LOC130065322 (R94fs +3 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 2008053	NM_033453.4(ITPA):c.396C>A (p.Phe132Leu)	ITPA, LOC130065322 (F115L +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	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 1997265	NM_033453.4(ITPA):c.389G>A (p.Arg130His)	ITPA, LOC130065322 (A18T +3 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency	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, LOC130065321 +1 more (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937864	NM_033453.4(ITPA):c.385G>A (p.Val129Met)	ITPA, LOC130065322 (V112M +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1937382	NM_033453.4(ITPA):c.411+12C>G	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1677148	NM_033453.4(ITPA):c.401G>A (p.Gly134Asp)	ITPA, LOC130065322 (A22T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1670724	NM_023935.3(DDRGK1):c.78C>T (p.Gly26=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667009	NM_033453.4(ITPA):c.411+11A>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1638918	NM_033453.4(ITPA):c.384C>A (p.Pro128=)	ITPA, LOC130065322 (P16Q)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	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 1590916	NM_023935.3(DDRGK1):c.30G>C (p.Ala10=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1514152	NM_033453.4(ITPA):c.385G>C (p.Val129Leu)	ITPA, LOC130065322 (V129L +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1504555	NM_033453.4(ITPA):c.409_410inv (p.Ser137Glu)	ITPA, LOC130065322 (S120E +2 more)	Inversion (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1362376	NM_033453.4(ITPA):c.404G>A (p.Arg135Gln)	ITPA, LOC130065322 (G23R +3 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance
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
Select item 1224116	NM_033453.4(ITPA):c.411+168G>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222117	NM_033453.4(ITPA):c.411+95G>A	ITPA, LOC130065322	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1150237	NM_033453.4(ITPA):c.402C>T (p.Gly134=)	ITPA, LOC130065322 (A22V)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1072785	NM_033453.4(ITPA):c.410C>A (p.Ser137Ter)	LOC130065322, ITPA (S120* +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 1069235	NM_033453.4(ITPA):c.411+1del	ITPA, LOC130065322	Deletion (splice donor variant)	Inosine triphosphatase deficiency	GPathogenic
Select item 1004907	NM_033453.4(ITPA):c.411+4C>T	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 973585	NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)	ITPA (Q29* +1 more)	Indel (5 prime UTR variant +2 more)	Developmental and epileptic encephalopathy, 35	GLikely pathogenic
Select item 898049	NM_001174089.2(SLC4A11):c.*351C>T	ITPA, SLC4A11	Single nucleotide variant (3 prime UTR variant +1 more)	Corneal dystrophy	GUncertain significance
Select item 657778	NM_033453.4(ITPA):c.411+5G>A	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 653173	NM_033453.4(ITPA):c.411+6T>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 646756	NM_033453.4(ITPA):c.411+5G>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 574873	NM_033453.4(ITPA):c.397A>G (p.Arg133Gly)	ITPA, LOC130065322 (R133G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 572048	NM_033453.4(ITPA):c.403C>T (p.Arg135Trp)	ITPA, LOC130065322 (R135W +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 533423	NM_033453.4(ITPA):c.388C>T (p.Arg130Cys)	ITPA, LOC130065322 (R130C +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 423919	NM_033453.4(ITPA):c.383C>T (p.Pro128Leu)	ITPA, LOC130065322 (P128L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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Links from Gene

Items: 46