ClinVar for Gene (Select 390916) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301391	NM_001105570.2(NUDT19):c.292C>T (p.Arg98Cys)	NUDT19, NUDT19-DT (R98C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301390	NM_001105570.2(NUDT19):c.97C>G (p.Pro33Ala)	LOC130064162, NUDT19 +1 more (P33A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301389	NM_001105570.2(NUDT19):c.253G>A (p.Gly85Arg)	NUDT19, NUDT19-DT (G85R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3301388	NM_001105570.2(NUDT19):c.539G>A (p.Arg180Gln)	NUDT19 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301387	NM_001105570.2(NUDT19):c.773C>T (p.Pro258Leu)	NUDT19 (P258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202806	NM_001105570.2(NUDT19):c.899A>T (p.Asp300Val)	NUDT19 (D300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202805	NM_001105570.2(NUDT19):c.668A>G (p.Glu223Gly)	NUDT19 (E223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202804	NM_001105570.2(NUDT19):c.629G>A (p.Arg210His)	NUDT19 (R210H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202802	NM_001105570.2(NUDT19):c.505G>A (p.Asp169Asn)	NUDT19 (D169N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202801	NM_001105570.2(NUDT19):c.502C>T (p.Arg168Cys)	NUDT19 (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202800	NM_001105570.2(NUDT19):c.460C>T (p.Pro154Ser)	NUDT19 (P154S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202798	NM_001105570.2(NUDT19):c.361G>A (p.Asp121Asn)	NUDT19 (D121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202797	NM_001105570.2(NUDT19):c.347G>C (p.Gly116Ala)	NUDT19 (G116A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202795	NM_001105570.2(NUDT19):c.145C>T (p.Arg49Cys)	LOC130064162, NUDT19 +1 more (R49C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2649685	NM_001105570.2(NUDT19):c.16C>A (p.Arg6=)	LOC130064162, NUDT19 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2623799	NM_001105570.2(NUDT19):c.783C>G (p.Phe261Leu)	NUDT19 (F261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623203	NM_001105570.2(NUDT19):c.847C>T (p.Arg283Cys)	NUDT19 (R283C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621661	NM_001105570.2(NUDT19):c.443C>T (p.Pro148Leu)	NUDT19 (P148L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614430	NM_001105570.2(NUDT19):c.337G>A (p.Asp113Asn)	NUDT19 (D113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606712	NM_001105570.2(NUDT19):c.901G>A (p.Gly301Arg)	NUDT19 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605099	NM_001105570.2(NUDT19):c.812C>T (p.Ala271Val)	NUDT19 (A271V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604683	NM_001105570.2(NUDT19):c.1021C>T (p.Arg341Trp)	NUDT19 (R341W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595896	NM_001105570.2(NUDT19):c.454C>G (p.Pro152Ala)	NUDT19 (P152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588920	NM_001105570.2(NUDT19):c.911A>C (p.His304Pro)	NUDT19 (H304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565765	NM_001105570.2(NUDT19):c.1040G>A (p.Arg347His)	NUDT19 (R347H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552048	NM_001105570.2(NUDT19):c.215G>C (p.Arg72Pro)	LOC130064162, NUDT19 +1 more (R72P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508598	NM_001105570.2(NUDT19):c.643G>T (p.Ala215Ser)	NUDT19 (A215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481889	NM_001105570.2(NUDT19):c.8G>A (p.Ser3Asn)	LOC130064162, NUDT19 +1 more (S3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465616	NM_001105570.2(NUDT19):c.211G>A (p.Asp71Asn)	LOC130064162, NUDT19 +1 more (D71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454333	NM_001105570.2(NUDT19):c.1022G>A (p.Arg341Gln)	NUDT19 (R341Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2404980	NM_001105570.2(NUDT19):c.242C>A (p.Ala81Glu)	NUDT19, NUDT19-DT (A81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404979	NM_001105570.2(NUDT19):c.241G>A (p.Ala81Thr)	NUDT19, NUDT19-DT (A81T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392985	NM_001105570.2(NUDT19):c.527G>A (p.Arg176His)	NUDT19 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388083	NM_001105570.2(NUDT19):c.324T>G (p.Asp108Glu)	NUDT19, NUDT19-DT (D108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386724	NM_001105570.2(NUDT19):c.620G>T (p.Gly207Val)	NUDT19 (G207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383862	NM_001105570.2(NUDT19):c.263G>C (p.Arg88Pro)	NUDT19, NUDT19-DT (R88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374982	NM_001105570.2(NUDT19):c.389G>A (p.Arg130Gln)	NUDT19 (R130Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366983	NM_001105570.2(NUDT19):c.688G>A (p.Asp230Asn)	NUDT19 (D230N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357709	NM_001105570.2(NUDT19):c.16C>T (p.Arg6Trp)	LOC130064162, NUDT19 +1 more (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346379	NM_001105570.2(NUDT19):c.385G>C (p.Val129Leu)	NUDT19 (V129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343920	NM_001105570.2(NUDT19):c.268G>A (p.Gly90Ser)	NUDT19, NUDT19-DT (G90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342522	NM_001105570.2(NUDT19):c.62C>A (p.Ala21Glu)	LOC130064162, NUDT19 +1 more (A21E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331432	NM_001105570.2(NUDT19):c.1060G>C (p.Val354Leu)	NUDT19 (V354L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322508	NM_001105570.2(NUDT19):c.68G>A (p.Gly23Asp)	LOC130064162, NUDT19 +1 more (G23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322235	NM_001105570.2(NUDT19):c.1096A>G (p.Lys366Glu)	NUDT19 (K366E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289355	NM_001105570.2(NUDT19):c.751T>C (p.Ser251Pro)	NUDT19 (S251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281402	NM_001105570.2(NUDT19):c.562A>G (p.Thr188Ala)	NUDT19 (T188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272595	NM_001105570.2(NUDT19):c.236T>G (p.Leu79Arg)	NUDT19, NUDT19-DT (L79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257661	NM_001105570.2(NUDT19):c.878C>T (p.Pro293Leu)	NUDT19 (P293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248929	NM_001105570.2(NUDT19):c.1087G>A (p.Val363Ile)	NUDT19 (V363I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245404	NM_001105570.2(NUDT19):c.64G>C (p.Ala22Pro)	LOC130064162, NUDT19 +1 more (A22P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229345	NM_001105570.2(NUDT19):c.506A>C (p.Asp169Ala)	NUDT19 (D169A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229302	NM_001105570.2(NUDT19):c.293G>C (p.Arg98Pro)	NUDT19, NUDT19-DT (R98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228342	NM_001105570.2(NUDT19):c.140T>G (p.Leu47Arg)	LOC130064162, NUDT19 +1 more (L47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228341	NM_001105570.2(NUDT19):c.131T>A (p.Leu44Gln)	LOC130064162, NUDT19 +1 more (L44Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217351	NM_001105570.2(NUDT19):c.334A>G (p.Thr112Ala)	NUDT19, NUDT19-DT (T112A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1526661	GRCh37/hg19 19q13.11(chr19:33146131-33251180)	ANKRD27, NUDT19 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 768983	NM_001105570.2(NUDT19):c.714+4A>G	NUDT19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 74