NUDT12[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 149693	GRCh38/hg38 5q21.1-21.2(chr5:102812129-104230720)x3	GIN1, LINC02115 +15 more	Copy number gain	See cases	GLikely benign
Select item 2271917	NM_031438.4(NUDT12):c.1327C>A (p.Pro443Thr)	NUDT12 (P443T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466415	NM_031438.4(NUDT12):c.1282C>G (p.Leu428Val)	NUDT12 (L428V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202755	NM_031438.4(NUDT12):c.1247T>C (p.Ile416Thr)	NUDT12 (I398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594176	NM_031438.4(NUDT12):c.1232T>G (p.Val411Gly)	NUDT12 (V393G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326942	NM_031438.4(NUDT12):c.1190T>A (p.Met397Lys)	NUDT12 (M379K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301375	NM_031438.4(NUDT12):c.1176G>A (p.Met392Ile)	NUDT12 (M392I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543753	NM_031438.4(NUDT12):c.1043G>A (p.Gly348Asp)	NUDT12 (G330D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604787	NM_031438.4(NUDT12):c.968C>T (p.Pro323Leu)	NUDT12 (P305L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610659	NM_031438.4(NUDT12):c.967C>G (p.Pro323Ala)	NUDT12 (P305A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202760	NM_031438.4(NUDT12):c.932A>G (p.Asn311Ser)	NUDT12 (N311S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456736	NM_031438.4(NUDT12):c.823C>T (p.Leu275Phe)	NUDT12 (L275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203800	NM_031438.4(NUDT12):c.691G>A (p.Gly231Ser)	NUDT12 (G213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202759	NM_031438.4(NUDT12):c.689T>C (p.Leu230Pro)	NUDT12 (L212P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374002	NM_031438.4(NUDT12):c.646G>T (p.Val216Phe)	NUDT12 (V216F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481044	NM_031438.4(NUDT12):c.608T>A (p.Leu203His)	NUDT12 (L185H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202758	NM_031438.4(NUDT12):c.571C>G (p.Pro191Ala)	NUDT12 (P173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301376	NM_031438.4(NUDT12):c.551T>C (p.Ile184Thr)	NUDT12 (I166T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532325	NM_031438.4(NUDT12):c.520G>A (p.Val174Ile)	NUDT12 (V156I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367113	NM_031438.4(NUDT12):c.443C>A (p.Thr148Lys)	NUDT12 (T148K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202756	NM_031438.4(NUDT12):c.348A>C (p.Glu116Asp)	NUDT12 (E116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301377	NM_031438.4(NUDT12):c.343G>A (p.Glu115Lys)	NUDT12 (E115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397528	NM_031438.4(NUDT12):c.332C>T (p.Thr111Met)	NUDT12 (T93M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620375	NM_031438.4(NUDT12):c.259G>A (p.Val87Ile)	NUDT12 (V87I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407544	NM_031438.4(NUDT12):c.182T>C (p.Ile61Thr)	NUDT12 (I61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202757	NM_031438.4(NUDT12):c.34A>G (p.Ile12Val)	NUDT12 (I12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148929	GRCh37/hg19 5q14.3-21.2(chr5:89923199-104256041)x3	ADGRV1, ARB2A +34 more	Copy number gain	See cases	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814717	GRCh37/hg19 5q21.1-21.2(chr5:101152187-103638623)x3	SLCO4C1, NUDT12 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688694	GRCh37/hg19 5q21.1-21.2(chr5:102422529-104039584)x3	GIN1, MACIR +2 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563091	GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1	ARB2A, ARSK +31 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443331	GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1	CAST, CHD1 +19 more	Copy number loss	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441955	GRCh37/hg19 5q21.1-21.2(chr5:98845559-103355831)x1	FAM174A, GIN1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign

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Items: 52