ClinVar for Gene (Select 83666) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304411	NM_001146105.2(PARP9):c.1543C>T (p.His515Tyr)	PARP9 (H550Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273978	NM_138287.3(DTX3L):c.103T>C (p.Ser35Pro)	DTX3L, PARP9 (S35P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208830	NM_001146105.2(PARP9):c.734A>G (p.Asn245Ser)	PARP9 (N258S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208829	NM_001146105.2(PARP9):c.49+21C>T	PARP9 (L24F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208828	NM_001146105.2(PARP9):c.49+15C>T	PARP9 (L22F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208827	NM_001146105.2(PARP9):c.493C>T (p.Arg165Trp)	PARP9 (R165W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208826	NM_001146105.2(PARP9):c.2437G>A (p.Ala813Thr)	PARP9 (A813T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3208825	NM_001146105.2(PARP9):c.2384A>G (p.Asp795Gly)	PARP9 (D795G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208824	NM_001146105.2(PARP9):c.131G>A (p.Arg44His)	PARP9 (R79H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208823	NM_001146105.2(PARP9):c.2234T>C (p.Val745Ala)	PARP9 (V758A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208822	NM_001146105.2(PARP9):c.2227A>G (p.Asn743Asp)	PARP9 (N778D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208821	NM_001146105.2(PARP9):c.2222C>T (p.Pro741Leu)	PARP9 (P776L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208820	NM_001146105.2(PARP9):c.1745G>T (p.Arg582Leu)	PARP9 (R617L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208819	NM_001146105.2(PARP9):c.1679A>T (p.Glu560Val)	PARP9 (E560V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208818	NM_001146105.2(PARP9):c.1474A>G (p.Met492Val)	PARP9 (M527V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208817	NM_001146105.2(PARP9):c.1463A>G (p.Asn488Ser)	PARP9 (N488S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208815	NM_001146105.2(PARP9):c.1205T>C (p.Ile402Thr)	PARP9 (I437T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208814	NM_001146105.2(PARP9):c.1108A>G (p.Ile370Val)	PARP9 (I370V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208813	NM_001146105.2(PARP9):c.1024T>A (p.Leu342Met)	PARP9 (L377M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086134	NM_138287.3(DTX3L):c.90C>A (p.Phe30Leu)	DTX3L, PARP9 (F30L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2608599	NM_001146105.2(PARP9):c.658A>G (p.Ile220Val)	PARP9 (I233V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596797	NM_001146105.2(PARP9):c.980C>T (p.Ser327Leu)	PARP9 (S340L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591254	NM_001146105.2(PARP9):c.824A>G (p.Asn275Ser)	PARP9 (N288S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2557769	NM_001146105.2(PARP9):c.1367G>A (p.Ser456Asn)	PARP9 (S456N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541102	NM_001146105.2(PARP9):c.1211A>G (p.Lys404Arg)	PARP9 (K439R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540921	NM_001146105.2(PARP9):c.211T>G (p.Ser71Ala)	PARP9 (S71A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516830	NM_001146105.2(PARP9):c.49+27T>C	PARP9 (F26L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2491025	NM_138287.3(DTX3L):c.101A>C (p.Lys34Thr)	DTX3L, PARP9 (K34T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465116	NM_001146105.2(PARP9):c.112A>C (p.Ile38Leu)	PARP9 (I73L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457607	NM_001146105.2(PARP9):c.1756C>T (p.Arg586Cys)	PARP9 (R586C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2401760	NM_001146105.2(PARP9):c.91A>G (p.Ile31Val)	PARP9 (I66V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390175	NM_001146105.2(PARP9):c.155A>G (p.Asn52Ser)	PARP9 (N52S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386888	NM_001146105.2(PARP9):c.1408A>C (p.Lys470Gln)	PARP9 (K505Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385418	NM_001146105.2(PARP9):c.2168T>C (p.Leu723Pro)	PARP9 (L723P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2384283	NM_001146105.2(PARP9):c.452G>A (p.Gly151Glu)	PARP9 (G186E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372465	NM_001146105.2(PARP9):c.205A>T (p.Ser69Cys)	PARP9 (S69C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348457	NM_001146105.2(PARP9):c.1817T>A (p.Ile606Asn)	PARP9 (I606N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348048	NM_001146105.2(PARP9):c.884C>T (p.Thr295Met)	PARP9 (T295M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342623	NM_001146105.2(PARP9):c.1784A>C (p.Gln595Pro)	PARP9 (Q595P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336077	NM_001146105.2(PARP9):c.2260A>G (p.Ile754Val)	PARP9 (I767V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2323308	NM_001146105.2(PARP9):c.2252C>T (p.Pro751Leu)	PARP9 (P751L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2320330	NM_001146105.2(PARP9):c.892G>A (p.Val298Ile)	PARP9 (V311I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308116	NM_001146105.2(PARP9):c.924T>G (p.Ile308Met)	PARP9 (I308M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306821	NM_138287.3(DTX3L):c.95G>C (p.Ser32Thr)	DTX3L, PARP9 (S32T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305518	NM_001146105.2(PARP9):c.458T>A (p.Leu153His)	PARP9 (L166H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298430	NM_001146105.2(PARP9):c.992C>T (p.Ala331Val)	PARP9 (A331V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294164	NM_001146105.2(PARP9):c.2213A>G (p.Gln738Arg)	PARP9 (Q751R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284369	NM_138287.3(DTX3L):c.56G>A (p.Gly19Asp)	DTX3L, PARP9 (G19D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272291	NM_138287.3(DTX3L):c.166G>T (p.Val56Leu)	DTX3L, PARP9 (V56L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2269042	NM_001146105.2(PARP9):c.1623T>G (p.Ile541Met)	PARP9 (I554M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230955	NM_001146105.2(PARP9):c.49+10C>T	PARP9 (T20I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222366	NM_001146105.2(PARP9):c.937G>T (p.Val313Leu)	PARP9 (V326L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206546	NM_001146105.2(PARP9):c.1694T>C (p.Ile565Thr)	PARP9 (I578T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204808	NM_001146105.2(PARP9):c.674G>A (p.Arg225Gln)	PARP9 (R238Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1707450	Single allele	CASR, CSTA +45 more	Duplication	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 995677	NM_001146105.2(PARP9):c.1652T>C (p.Ile551Thr)	PARP9 (I551T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994006	NM_001146105.2(PARP9):c.2385T>A (p.Asp795Glu)	PARP9 (D795E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 993731	NM_001146105.2(PARP9):c.2387A>C (p.Tyr796Ser)	PARP9 (Y796S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 790541	NM_001146105.2(PARP9):c.1846A>G (p.Thr616Ala)	PARP9 (T616A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 781713	NM_001146105.2(PARP9):c.1213G>A (p.Glu405Lys)	PARP9 (E405K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 687972	GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3	ADCY5, CASR +23 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253332	GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3	IQCB1, FAM162A +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78