NUDT13[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 58745	GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1	LOC130004132, LOC130004133 +150 more	Copy number loss	See cases	GPathogenic
Select item 3202766	NM_015901.6(NUDT13):c.82C>T (p.Arg28Trp)	NUDT13 (R28W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202762	NM_015901.6(NUDT13):c.106G>T (p.Asp36Tyr)	NUDT13 (D36Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603698	NM_015901.6(NUDT13):c.203C>G (p.Ala68Gly)	NUDT13 (A68G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2376420	NM_015901.6(NUDT13):c.209G>A (p.Arg70Gln)	NUDT13 (R70Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2245681	NM_015901.6(NUDT13):c.238C>G (p.Leu80Val)	NUDT13 (L80V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392666	NM_015901.6(NUDT13):c.268A>G (p.Ile90Val)	NUDT13 (I90V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383908	NM_015901.6(NUDT13):c.352A>C (p.Ile118Leu)	NUDT13 (I118L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3408414	NM_015901.6(NUDT13):c.463A>G (p.Thr155Ala)	NUDT13 (T155A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343507	NM_015901.6(NUDT13):c.464C>T (p.Thr155Met)	NUDT13 (T155M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358422	NM_015901.6(NUDT13):c.481C>T (p.Arg161Cys)	NUDT13 (R161C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225594	NM_015901.6(NUDT13):c.484T>G (p.Trp162Gly)	NUDT13 (W162G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2387362	NM_015901.6(NUDT13):c.502T>C (p.Phe168Leu)	NUDT13 (F168L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272576	NM_015901.6(NUDT13):c.526A>C (p.Thr176Pro)	NUDT13 (T176P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2369604	NM_015901.6(NUDT13):c.527C>T (p.Thr176Ile)	NUDT13 (T176I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202764	NM_015901.6(NUDT13):c.545G>A (p.Gly182Asp)	NUDT13 (G182D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274352	NM_015901.6(NUDT13):c.548G>A (p.Ser183Asn)	NUDT13 (S57N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202765	NM_015901.6(NUDT13):c.574A>G (p.Ile192Val)	NUDT13 (I192V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210229	NM_015901.6(NUDT13):c.632G>A (p.Arg211Gln)	NUDT13 (R14Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349176	NM_015901.6(NUDT13):c.641T>C (p.Leu214Pro)	NUDT13 (L88P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3408418	NM_015901.6(NUDT13):c.651A>C (p.Gln217His)	NUDT13 (Q20H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2349671	NM_015901.6(NUDT13):c.671T>G (p.Met224Arg)	NUDT13 (M224R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226439	NM_015901.6(NUDT13):c.701T>C (p.Ile234Thr)	NUDT13 (I37T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3408413	NM_015901.6(NUDT13):c.706G>C (p.Glu236Gln)	NUDT13 (E39Q +2 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2261575	NM_015901.6(NUDT13):c.722C>G (p.Thr241Ser)	NUDT13 (P204A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2397086	NM_015901.6(NUDT13):c.727C>T (p.Arg243Cys)	NUDT13 (R243C +2 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2204969	NM_015901.6(NUDT13):c.737T>C (p.Val246Ala)	NUDT13 (V49A +2 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3408417	NM_015901.6(NUDT13):c.746A>G (p.Glu249Gly)	NUDT13 (E249G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3301378	NM_015901.6(NUDT13):c.848G>A (p.Gly283Glu)	NUDT13 (G157E +2 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3408415	NM_015901.6(NUDT13):c.860T>C (p.Ile287Thr)	NUDT13 (I198T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2524005	NM_015901.6(NUDT13):c.875G>C (p.Arg292Thr)	NUDT13 (R166T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2304300	NM_015901.6(NUDT13):c.876A>C (p.Arg292Ser)	NUDT13 (R203S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3408416	NM_015901.6(NUDT13):c.925C>G (p.Leu309Val)	NUDT13 (L183V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316279	NM_015901.6(NUDT13):c.1001C>T (p.Ser334Phe)	NUDT13 (S208F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338660	NM_015901.6(NUDT13):c.1035G>C (p.Gln345His)	NUDT13 (Q345H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202761	NM_015901.6(NUDT13):c.1051C>A (p.Pro351Thr)	NUDT13 (P225T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063148	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75019111)x3	CFAP70, DNAJC9 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527591	GRCh37/hg19 10q22.1-22.2(chr10:74472028-75007588)	DNAJC9, ECD +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 52