ClinVar for Gene (Select 165631) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304388	NM_001113523.3(PARP15):c.110G>T (p.Arg37Leu)	LOC129937381, PARP15 (R37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304387	NM_001113523.3(PARP15):c.1495C>G (p.Leu499Val)	PARP15 (L265V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304386	NM_001113523.3(PARP15):c.161C>G (p.Ser54Cys)	LOC129937381, PARP15 (S54C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304385	NM_001113523.3(PARP15):c.425G>A (p.Arg142Gln)	PARP15 (R142Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304384	NM_001113523.3(PARP15):c.1330A>G (p.Lys444Glu)	PARP15 (K210E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208743	NM_001113523.3(PARP15):c.938T>C (p.Ile313Thr)	PARP15 (I187T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208741	NM_001113523.3(PARP15):c.751A>C (p.Asn251His)	PARP15 (N251H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208740	NM_001113523.3(PARP15):c.604A>G (p.Ile202Val)	PARP15 (I202V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208739	NM_001113523.3(PARP15):c.502G>A (p.Val168Met)	PARP15 (V168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208738	NM_001113523.3(PARP15):c.456C>A (p.Phe152Leu)	PARP15 (F152L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208737	NM_001113523.3(PARP15):c.2020A>T (p.Ile674Leu)	LOC126806789, PARP15 (I479L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208736	NM_001113523.3(PARP15):c.1856G>A (p.Arg619Gln)	LOC126806789, PARP15 (R385Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208735	NM_001113523.3(PARP15):c.1849G>A (p.Val617Ile)	LOC126806789, PARP15 (V314I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208734	NM_001113523.3(PARP15):c.1606A>G (p.Ser536Gly)	PARP15 (S536G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208733	NM_001113523.3(PARP15):c.1052G>A (p.Cys351Tyr)	PARP15 (C351Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605384	NM_001113523.3(PARP15):c.559A>G (p.Ile187Val)	PARP15 (I187V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2551126	NM_001113523.3(PARP15):c.811C>T (p.Pro271Ser)	PARP15 (P271S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530518	NM_001113523.3(PARP15):c.506C>G (p.Ala169Gly)	PARP15 (A169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514057	NM_001113523.3(PARP15):c.1754C>G (p.Ser585Cys)	LOC126806789, PARP15 (S282C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487816	NM_001113523.3(PARP15):c.41C>G (p.Pro14Arg)	LOC129937381, PARP15 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481136	NM_001113523.3(PARP15):c.1349C>T (p.Pro450Leu)	PARP15 (P450L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479595	NM_001113523.3(PARP15):c.871A>C (p.Lys291Gln)	PARP15 (K291Q +1 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 2402353	NM_001113523.3(PARP15):c.992G>A (p.Arg331Gln)	PARP15 (R205Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378116	NM_001113523.3(PARP15):c.59G>C (p.Arg20Thr)	LOC129937381, PARP15 (R20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378115	NM_001113523.3(PARP15):c.101G>C (p.Gly34Ala)	LOC129937381, PARP15 (G34A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367264	NM_001113523.3(PARP15):c.368G>A (p.Arg123Gln)	PARP15 (R123Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363943	NM_001113523.3(PARP15):c.1979T>C (p.Phe660Ser)	LOC126806789, PARP15 (F660S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341134	NM_001113523.3(PARP15):c.106G>C (p.Asp36His)	LOC129937381, PARP15 (D36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335246	NM_001113523.3(PARP15):c.391C>T (p.Pro131Ser)	PARP15 (P131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328638	NM_001113523.3(PARP15):c.829C>A (p.Pro277Thr)	PARP15 (P277T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326025	NM_001113523.3(PARP15):c.1814C>T (p.Ser605Phe)	LOC126806789, PARP15 (S371F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262638	NM_001113523.3(PARP15):c.281T>C (p.Ile94Thr)	PARP15 (I94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251498	NM_001113523.3(PARP15):c.1151T>G (p.Val384Gly)	PARP15 (V150G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251071	NM_001113523.3(PARP15):c.97G>A (p.Ala33Thr)	LOC129937381, PARP15 (A33T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248215	NM_001113523.3(PARP15):c.158C>T (p.Ala53Val)	LOC129937381, PARP15 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238939	NM_001113523.3(PARP15):c.400C>G (p.Gln134Glu)	PARP15 (Q134E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233796	NM_001113523.3(PARP15):c.353G>A (p.Gly118Glu)	PARP15 (G118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229079	NM_001113523.3(PARP15):c.1778C>T (p.Ala593Val)	LOC126806789, PARP15 (A593V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221547	NM_001113523.3(PARP15):c.1544G>A (p.Arg515Gln)	PARP15 (R212Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2214603	NM_001113523.3(PARP15):c.1083T>G (p.Asp361Glu)	PARP15 (D235E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212503	NM_001113523.3(PARP15):c.1294T>C (p.Ser432Pro)	PARP15 (S198P +1 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 773134	NM_001113523.3(PARP15):c.1561G>A (p.Ala521Thr)	PARP15 (A218T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 767926	NM_001113523.3(PARP15):c.722T>C (p.Leu241Ser)	PARP15 (L241S)	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

ClinVar

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Links from Gene

Items: 62