PARP4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	LOC130009372, LOC130009373 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 150201	GRCh38/hg38 13q12.12(chr13:24253545-24534736)x3	C1QTNF9, LINC00566 +12 more	Copy number gain	See cases	GLikely benign
Select item 58235	GRCh38/hg38 13q12.12-12.13(chr13:24363400-24904246)x3	ATP12A, CENPJ +16 more	Copy number gain	See cases	GUncertain significance
Select item 2321293	NM_006437.4(PARP4):c.5137T>C (p.Ser1713Pro)	PARP4 (S1713P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473039	NM_006437.4(PARP4):c.5093C>T (p.Ser1698Phe)	PARP4 (S1698F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225951	NM_006437.4(PARP4):c.5065C>T (p.Arg1689Trp)	PARP4 (R1689W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643684	NM_006437.4(PARP4):c.5040A>G (p.Glu1680=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796426	NM_006437.4(PARP4):c.4980-8dup	PARP4	Duplication (intron variant)	not provided	GBenign
Select item 2619058	NM_006437.4(PARP4):c.4885A>T (p.Thr1629Ser)	PARP4 (T1629S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597357	NM_006437.4(PARP4):c.4645A>G (p.Ile1549Val)	PARP4 (I1549V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312083	NM_006437.4(PARP4):c.4598A>G (p.Gln1533Arg)	PARP4 (Q1533R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379454	NM_006437.4(PARP4):c.4574G>A (p.Ser1525Asn)	PARP4 (S1525N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302609	NM_006437.4(PARP4):c.4550C>T (p.Ala1517Val)	PARP4 (A1517V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290357	NM_006437.4(PARP4):c.4511C>T (p.Ser1504Leu)	PARP4 (S1504L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643685	NM_006437.4(PARP4):c.4406C>G (p.Ala1469Gly)	PARP4 (A1469G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2295861	NM_006437.4(PARP4):c.4360T>A (p.Tyr1454Asn)	PARP4 (Y1454N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344754	NM_006437.4(PARP4):c.4154C>T (p.Thr1385Ile)	PARP4 (T1385I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347707	NM_006437.4(PARP4):c.4124A>T (p.Asp1375Val)	PARP4 (D1375V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385348	NM_006437.4(PARP4):c.4057G>C (p.Ala1353Pro)	PARP4 (A1353P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332909	NM_006437.4(PARP4):c.4048T>C (p.Phe1350Leu)	PARP4 (F1350L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305904	NM_006437.4(PARP4):c.3998C>T (p.Ala1333Val)	PARP4 (A1333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361293	NM_006437.4(PARP4):c.3986C>T (p.Pro1329Leu)	PARP4 (P1329L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404403	NM_006437.4(PARP4):c.3962C>T (p.Pro1321Leu)	PARP4 (P1321L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546212	NM_006437.4(PARP4):c.3902T>C (p.Leu1301Pro)	PARP4 (L1301P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395916	NM_006437.4(PARP4):c.3884C>T (p.Pro1295Leu)	PARP4 (P1295L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330418	NM_006437.4(PARP4):c.3777A>T (p.Glu1259Asp)	PARP4 (E1259D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515457	NM_006437.4(PARP4):c.3748A>G (p.Met1250Val)	PARP4 (M1250V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776783	NM_006437.4(PARP4):c.3747A>G (p.Lys1249=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1331096	NM_006437.4(PARP4):c.3713G>A (p.Arg1238Gln)	PARP4 (R1238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619101	NM_006437.4(PARP4):c.3667T>G (p.Ser1223Ala)	PARP4 (S1223A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312353	NM_006437.4(PARP4):c.3659G>A (p.Arg1220Lys)	PARP4 (R1220K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 769843	NM_006437.4(PARP4):c.3642G>A (p.Glu1214=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2329391	NM_006437.4(PARP4):c.3636G>T (p.Gln1212His)	PARP4 (Q1212H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494129	NM_006437.4(PARP4):c.3625A>G (p.Met1209Val)	PARP4 (M1209V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643686	NM_006437.4(PARP4):c.3618G>T (p.Leu1206=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2280747	NM_006437.4(PARP4):c.3586G>A (p.Glu1196Lys)	PARP4 (E1196K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 769844	NM_006437.4(PARP4):c.3558G>A (p.Ser1186=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643687	NM_006437.4(PARP4):c.3549G>A (p.Glu1183=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615469	NM_006437.4(PARP4):c.3446A>G (p.Glu1149Gly)	PARP4 (E1149G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368435	NM_006437.4(PARP4):c.3295T>C (p.Cys1099Arg)	PARP4 (C1099R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2798132	NM_006437.4(PARP4):c.3286-12dup	PARP4	Duplication (intron variant)	not provided	GBenign
Select item 768604	NM_006437.4(PARP4):c.3285+7_3285+9del	PARP4	Microsatellite (intron variant)	not provided	GBenign
Select item 2515047	NM_006437.4(PARP4):c.3260A>G (p.Tyr1087Cys)	PARP4 (Y1087C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768605	NM_006437.4(PARP4):c.3194T>C (p.Val1065Ala)	PARP4 (V1065A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2483931	NM_006437.4(PARP4):c.3086C>A (p.Ala1029Glu)	PARP4 (A1029E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469376	NM_006437.4(PARP4):c.3064G>A (p.Gly1022Arg)	PARP4 (G1022R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263602	NM_006437.4(PARP4):c.3028C>T (p.Arg1010Cys)	PARP4 (R1010C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773031	NM_006437.4(PARP4):c.2972A>G (p.Lys991Arg)	PARP4 (K991R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2479361	NM_006437.4(PARP4):c.2964G>C (p.Gln988His)	PARP4 (Q988H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471684	NM_006437.4(PARP4):c.2908C>T (p.Arg970Trp)	PARP4 (R970W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270627	NM_006437.4(PARP4):c.2894C>G (p.Pro965Arg)	PARP4 (P965R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588809	NM_006437.4(PARP4):c.2808G>A (p.Met936Ile)	PARP4 (M936I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321540	NM_006437.4(PARP4):c.2800A>C (p.Asn934His)	PARP4 (N934H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784479	NM_006437.4(PARP4):c.2703T>C (p.His901=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2206974	NM_006437.4(PARP4):c.2593G>A (p.Asp865Asn)	PARP4 (D865N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643688	NM_006437.4(PARP4):c.2577C>T (p.Val859=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508707	NM_006437.4(PARP4):c.2497A>G (p.Ile833Val)	PARP4 (I833V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355806	NM_006437.4(PARP4):c.2429C>T (p.Thr810Ile)	PARP4 (T810I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457326	NM_006437.4(PARP4):c.2188A>C (p.Lys730Gln)	PARP4 (K730Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643689	NM_006437.4(PARP4):c.2171A>C (p.Lys724Thr)	PARP4 (K724T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2273247	NM_006437.4(PARP4):c.2164C>A (p.Pro722Thr)	PARP4 (P722T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507776	NM_006437.4(PARP4):c.2123A>G (p.Gln708Arg)	PARP4 (Q708R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314929	NM_006437.4(PARP4):c.2084A>C (p.Glu695Ala)	PARP4 (E695A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326572	NM_006437.4(PARP4):c.2062G>A (p.Glu688Lys)	PARP4 (E688K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205263	NM_006437.4(PARP4):c.2003G>A (p.Cys668Tyr)	PARP4 (C668Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373316	NM_006437.4(PARP4):c.1940A>G (p.Asn647Ser)	PARP4 (N647S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531342	NM_006437.4(PARP4):c.1906G>C (p.Val636Leu)	PARP4 (V636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290906	NM_006437.4(PARP4):c.1661A>G (p.Asn554Ser)	PARP4 (N554S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595410	NM_006437.4(PARP4):c.1592A>G (p.His531Arg)	PARP4 (H531R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230274	NM_006437.4(PARP4):c.1554T>G (p.Phe518Leu)	PARP4 (F518L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747854	NM_006437.4(PARP4):c.1521C>T (p.Leu507=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2381015	NM_006437.4(PARP4):c.1408G>A (p.Gly470Arg)	PARP4 (G470R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2643690	NM_006437.4(PARP4):c.1407C>T (p.Val469=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349400	NM_006437.4(PARP4):c.1405G>A (p.Val469Ile)	PARP4 (V469I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2470082	NM_006437.4(PARP4):c.1385G>A (p.Arg462His)	PARP4 (R462H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 773032	NM_006437.4(PARP4):c.1384C>T (p.Arg462Cys)	PARP4 (R462C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2279067	NM_006437.4(PARP4):c.1313A>G (p.His438Arg)	PARP4 (H438R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485187	NM_006437.4(PARP4):c.1220G>A (p.Ser407Asn)	PARP4 (S407N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297285	NM_006437.4(PARP4):c.1003C>G (p.Pro335Ala)	PARP4 (P335A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464167	NM_006437.4(PARP4):c.990C>G (p.His330Gln)	PARP4 (H330Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312221	NM_006437.4(PARP4):c.985C>A (p.Pro329Thr)	PARP4 (P329T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331137	NM_006437.4(PARP4):c.898A>G (p.Ile300Val)	PARP4 (I300V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230963	NM_006437.4(PARP4):c.877G>A (p.Asp293Asn)	PARP4 (D293N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545721	NM_006437.4(PARP4):c.854C>T (p.Pro285Leu)	PARP4 (P285L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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