32036[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	LOC130064198, LOC132090533 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	FXYD7, GARRE1 +193 more	Copy number loss	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 2481889	NM_001105570.2(NUDT19):c.8G>A (p.Ser3Asn)	LOC130064162, NUDT19 +1 more (S3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2357709	NM_001105570.2(NUDT19):c.16C>T (p.Arg6Trp)	LOC130064162, NUDT19 +1 more (R6W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342522	NM_001105570.2(NUDT19):c.62C>A (p.Ala21Glu)	LOC130064162, NUDT19 +1 more (A21E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245404	NM_001105570.2(NUDT19):c.64G>C (p.Ala22Pro)	NUDT19-DT, LOC130064162 +1 more (A22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322508	NM_001105570.2(NUDT19):c.68G>A (p.Gly23Asp)	LOC130064162, NUDT19 +1 more (G23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228341	NM_001105570.2(NUDT19):c.131T>A (p.Leu44Gln)	LOC130064162, NUDT19 +1 more (L44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228342	NM_001105570.2(NUDT19):c.140T>G (p.Leu47Arg)	LOC130064162, NUDT19 +1 more (L47R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465616	NM_001105570.2(NUDT19):c.211G>A (p.Asp71Asn)	LOC130064162, NUDT19 +1 more (D71N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552048	NM_001105570.2(NUDT19):c.215G>C (p.Arg72Pro)	LOC130064162, NUDT19 +1 more (R72P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272595	NM_001105570.2(NUDT19):c.236T>G (p.Leu79Arg)	NUDT19-DT, NUDT19 (L79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404979	NM_001105570.2(NUDT19):c.241G>A (p.Ala81Thr)	NUDT19, NUDT19-DT (A81T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404980	NM_001105570.2(NUDT19):c.242C>A (p.Ala81Glu)	NUDT19, NUDT19-DT (A81E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383862	NM_001105570.2(NUDT19):c.263G>C (p.Arg88Pro)	NUDT19, NUDT19-DT (R88P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343920	NM_001105570.2(NUDT19):c.268G>A (p.Gly90Ser)	NUDT19, NUDT19-DT (G90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229302	NM_001105570.2(NUDT19):c.293G>C (p.Arg98Pro)	NUDT19, NUDT19-DT (R98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388083	NM_001105570.2(NUDT19):c.324T>G (p.Asp108Glu)	NUDT19, NUDT19-DT (D108E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217351	NM_001105570.2(NUDT19):c.334A>G (p.Thr112Ala)	NUDT19, NUDT19-DT (T112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2614430	NM_001105570.2(NUDT19):c.337G>A (p.Asp113Asn)	NUDT19 (D113N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346379	NM_001105570.2(NUDT19):c.385G>C (p.Val129Leu)	NUDT19 (V129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374982	NM_001105570.2(NUDT19):c.389G>A (p.Arg130Gln)	NUDT19 (R130Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621661	NM_001105570.2(NUDT19):c.443C>T (p.Pro148Leu)	NUDT19 (P148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595896	NM_001105570.2(NUDT19):c.454C>G (p.Pro152Ala)	NUDT19 (P152A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229345	NM_001105570.2(NUDT19):c.506A>C (p.Asp169Ala)	NUDT19 (D169A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2392985	NM_001105570.2(NUDT19):c.527G>A (p.Arg176His)	NUDT19 (R176H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281402	NM_001105570.2(NUDT19):c.562A>G (p.Thr188Ala)	NUDT19 (T188A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386724	NM_001105570.2(NUDT19):c.620G>T (p.Gly207Val)	NUDT19 (G207V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508598	NM_001105570.2(NUDT19):c.643G>T (p.Ala215Ser)	NUDT19 (A215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366983	NM_001105570.2(NUDT19):c.688G>A (p.Asp230Asn)	NUDT19 (D230N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768983	NM_001105570.2(NUDT19):c.714+4A>G	NUDT19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2289355	NM_001105570.2(NUDT19):c.751T>C (p.Ser251Pro)	NUDT19 (S251P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623799	NM_001105570.2(NUDT19):c.783C>G (p.Phe261Leu)	NUDT19 (F261L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605099	NM_001105570.2(NUDT19):c.812C>T (p.Ala271Val)	NUDT19 (A271V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2623203	NM_001105570.2(NUDT19):c.847C>T (p.Arg283Cys)	NUDT19 (R283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257661	NM_001105570.2(NUDT19):c.878C>T (p.Pro293Leu)	NUDT19 (P293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606712	NM_001105570.2(NUDT19):c.901G>A (p.Gly301Arg)	NUDT19 (G301R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588920	NM_001105570.2(NUDT19):c.911A>C (p.His304Pro)	NUDT19 (H304P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604683	NM_001105570.2(NUDT19):c.1021C>T (p.Arg341Trp)	NUDT19 (R341W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454333	NM_001105570.2(NUDT19):c.1022G>A (p.Arg341Gln)	NUDT19 (R341Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2565765	NM_001105570.2(NUDT19):c.1040G>A (p.Arg347His)	NUDT19 (R347H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331432	NM_001105570.2(NUDT19):c.1060G>C (p.Val354Leu)	NUDT19 (V354L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248929	NM_001105570.2(NUDT19):c.1087G>A (p.Val363Ile)	NUDT19 (V363I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322235	NM_001105570.2(NUDT19):c.1096A>G (p.Lys366Glu)	NUDT19 (K366E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
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 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 60