"GeneDx"[submitter] AND "ITPA"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235259	NM_001324237.2(ITPA):c.-272+303G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251484	NM_033453.3(ITPA):c.-159C>G	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264012	NM_033453.3(ITPA):c.-113C>T	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235412	NM_033453.4(ITPA):c.67-198G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178607	NM_033453.4(ITPA):c.67-141G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257433	NM_033453.4(ITPA):c.67-128C>T	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224617	NM_033453.4(ITPA):c.67-83G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14746	NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	ITPA (P32T +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	peginterferon alfa-2b and ribavirin response - Toxicity	Gdrug response
Select item 14747	NM_033453.4(ITPA):c.124+21A>C	ITPA	Single nucleotide variant (intron variant)	peginterferon alfa-2b and ribavirin response - Toxicity	Gdrug response
Select item 1320998	NM_033453.4(ITPA):c.137A>G (p.Gln46Arg)	ITPA (Q29R +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1170107	NM_033453.4(ITPA):c.138G>A (p.Gln46=)	ITPA	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign
Select item 1283248	NM_033453.4(ITPA):c.189+144G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273909	NM_033453.4(ITPA):c.190-190C>T	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430240	NM_033453.4(ITPA):c.211G>C (p.Glu71Gln)	ITPA (E71Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 218091	NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)	ITPA (G106fs +3 more)	Duplication (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 35 +3 more	GPathogenic/Likely pathogenic
Select item 423919	NM_033453.4(ITPA):c.383C>T (p.Pro128Leu)	ITPA, LOC130065322 (P128L +3 more)	Single nucleotide variant (missense variant +1 more)	Inosine triphosphatase deficiency +1 more	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)	Inosine triphosphatase deficiency +1 more	GUncertain significance
Select item 1222117	NM_033453.4(ITPA):c.411+95G>A	ITPA, LOC130065322	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1224116	NM_033453.4(ITPA):c.411+168G>C	ITPA, LOC130065322	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 218089	NM_033453.4(ITPA):c.452G>A (p.Trp151Ter)	ITPA (W151* +3 more)	Single nucleotide variant (nonsense +3 more)	not provided +1 more	GPathogenic
Select item 804163	NM_033453.4(ITPA):c.488+1G>A	ITPA	Single nucleotide variant (splice donor variant +1 more)	Inosine triphosphatase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1239819	NM_033453.4(ITPA):c.488+73G>A	ITPA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1242480	NM_033453.4(ITPA):c.488+170G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290702	NM_033453.4(ITPA):c.489-62T>A	ITPA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 640079	NM_033453.4(ITPA):c.509C>T (p.Ala170Val)	ITPA (R58W +3 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency +1 more	GUncertain significance
Select item 963397	NM_033453.4(ITPA):c.513G>C (p.Glu171Asp)	ITPA (R59T +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 3369204	NM_033453.4(ITPA):c.524T>G (p.Val175Gly)	ITPA (S191A +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 218090	NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)	ITPA (R178C +2 more)	Single nucleotide variant (missense variant +3 more)	ITPA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 452647	NM_033453.4(ITPA):c.545T>C (p.Leu182Pro)	ITPA (L182P +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1170108	NM_033453.4(ITPA):c.561G>A (p.Glu187=)	ITPA (S75N)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency +3 more	GBenign
Select item 1244619	NM_033453.4(ITPA):c.*68C>T	ITPA (R106W)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GBenign
Select item 1168201	NM_033453.4(ITPA):c.*123G>A	ITPA	Single nucleotide variant (3 prime UTR variant +2 more)	Inosine triphosphatase deficiency +1 more	GBenign
Select item 253695	GRCh37/hg19 20p13(chr20:3026868-3657453)x3	DDRGK1, OXT +11 more	Copy number gain	See cases	GUncertain significance
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 35