PARP3[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 723089	NM_001003931.4(PARP3):c.14C>T (p.Pro5Leu)	PARP3 (P5L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2270802	NM_001003931.4(PARP3):c.58C>T (p.Arg20Trp)	PARP3 (R20W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543170	NM_001003931.4(PARP3):c.88C>T (p.Arg30Cys)	PARP3 (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238052	NM_001003931.4(PARP3):c.115A>T (p.Ile39Leu)	PARP3 (I39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789986	NM_001003931.4(PARP3):c.121G>T (p.Ala41Ser)	PARP3 (A41S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788969	NM_001003931.4(PARP3):c.141C>T (p.Arg47=)	PARP3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2237433	NM_001003931.4(PARP3):c.167G>A (p.Ser56Asn)	PARP3 (S56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298502	NM_001003931.4(PARP3):c.176G>A (p.Gly59Glu)	PARP3 (G59E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591280	NM_001003931.4(PARP3):c.226G>A (p.Glu76Lys)	PARP3 (E76K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208757	NM_001003931.4(PARP3):c.270C>G (p.Asp90Glu)	PARP3 (D90E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287501	NM_001003931.4(PARP3):c.286A>G (p.Thr96Ala)	PARP3 (T96A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208758	NM_001003931.4(PARP3):c.308G>A (p.Arg103His)	PARP3 (R103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268707	NM_001003931.4(PARP3):c.320T>C (p.Val107Ala)	PARP3 (V107A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208759	NM_001003931.4(PARP3):c.373T>C (p.Phe125Leu)	PARP3 (F125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368648	NM_001003931.4(PARP3):c.418C>T (p.Arg140Trp)	PARP3 (R140W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653874	NM_001003931.4(PARP3):c.459C>T (p.Ile153=)	PARP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2338040	NM_001003931.4(PARP3):c.461A>G (p.Glu154Gly)	PARP3 (E154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775877	NM_001003931.4(PARP3):c.501+9G>A	PARP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2308298	NM_001003931.4(PARP3):c.574C>T (p.Leu192Phe)	PARP3 (L192F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490972	NM_001003931.4(PARP3):c.593G>A (p.Ser198Asn)	PARP3 (S198N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531751	NM_001003931.4(PARP3):c.642G>T (p.Lys214Asn)	PARP3 (K214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233927	NM_001003931.4(PARP3):c.679G>A (p.Ala227Thr)	PARP3 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389101	NM_001003931.4(PARP3):c.683G>A (p.Arg228Gln)	PARP3 (R228Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208760	NM_001003931.4(PARP3):c.706C>G (p.Leu236Val)	PARP3 (L236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208761	NM_001003931.4(PARP3):c.725G>T (p.Gly242Val)	PARP3 (G242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208762	NM_001003931.4(PARP3):c.730A>G (p.Thr244Ala)	PARP3 (T244A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208763	NM_001003931.4(PARP3):c.740G>A (p.Gly247Asp)	PARP3 (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346224	NM_001003931.4(PARP3):c.768C>G (p.His256Gln)	PARP3 (H256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382891	NM_001003931.4(PARP3):c.869C>T (p.Ala290Val)	PARP3 (A290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608927	NM_001003931.4(PARP3):c.876C>G (p.Ile292Met)	PARP3 (I292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208764	NM_001003931.4(PARP3):c.939C>A (p.His313Gln)	PARP3 (H313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382630	NM_001003931.4(PARP3):c.950G>A (p.Arg317Gln)	PARP3 (R317Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207228	NM_001003931.4(PARP3):c.986T>C (p.Leu329Pro)	PARP3 (L329P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208755	NM_001003931.4(PARP3):c.991T>C (p.Ser331Pro)	PARP3 (S331P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296385	NM_001003931.4(PARP3):c.1009A>C (p.Lys337Gln)	PARP3 (K337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689655	NM_001003931.4(PARP3):c.1018C>T (p.Gln340Ter)	PARP3 (Q340*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2608990	NM_001003931.4(PARP3):c.1045A>G (p.Asn349Asp)	PARP3 (N349D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292387	NM_001003931.4(PARP3):c.1135C>G (p.Arg379Gly)	PARP3 (R379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468294	NM_001003931.4(PARP3):c.1136G>A (p.Arg379Gln)	PARP3 (R379Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770526	NM_001003931.4(PARP3):c.1153G>A (p.Gly385Ser)	PARP3 (G385S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3304398	NM_001003931.4(PARP3):c.1264T>A (p.Ser422Thr)	PARP3 (S422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261632	NM_001003931.4(PARP3):c.1283G>A (p.Gly428Asp)	PARP3 (G428D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399179	NM_001003931.4(PARP3):c.1409T>C (p.Ile470Thr)	PARP3 (I470T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208756	NM_001003931.4(PARP3):c.1412C>T (p.Ala471Val)	PARP3 (A471V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304397	NM_001003931.4(PARP3):c.1528T>G (p.Phe510Val)	PARP3 (F510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244045	NM_001003931.4(PARP3):c.1537A>T (p.Ser513Cys)	PARP3 (S513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329884	NM_001003931.4(PARP3):c.1544A>G (p.Tyr515Cys)	PARP3 (Y515C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333646	NM_001003931.4(PARP3):c.1577G>A (p.Arg526His)	PARP3 (R526H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395481	GRCh37/hg19 3p21.2(chr3:51941606-51989667)x3	GPR62, PARP3 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 57