ClinVar for Gene (Select 143) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304406	NM_006437.4(PARP4):c.3722G>A (p.Arg1241Lys)	PARP4 (R1241K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304405	NM_006437.4(PARP4):c.3212C>T (p.Ala1071Val)	PARP4 (A1071V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304404	NM_006437.4(PARP4):c.4730T>A (p.Leu1577His)	PARP4 (L1577H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304403	NM_006437.4(PARP4):c.730C>A (p.Gln244Lys)	PARP4 (Q244K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304402	NM_006437.4(PARP4):c.1511A>G (p.Asp504Gly)	PARP4 (D504G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304401	NM_006437.4(PARP4):c.4034G>A (p.Arg1345His)	PARP4 (R1345H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304400	NM_006437.4(PARP4):c.4636G>A (p.Asp1546Asn)	PARP4 (D1546N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304399	NM_006437.4(PARP4):c.2752G>A (p.Gly918Ser)	PARP4 (G918S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208794	NM_006437.4(PARP4):c.943G>A (p.Glu315Lys)	PARP4 (E315K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208793	NM_006437.4(PARP4):c.904C>T (p.Leu302Phe)	PARP4 (L302F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208792	NM_006437.4(PARP4):c.806T>C (p.Met269Thr)	PARP4 (M269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208791	NM_006437.4(PARP4):c.656T>C (p.Ile219Thr)	PARP4 (I219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208790	NM_006437.4(PARP4):c.652T>C (p.Tyr218His)	PARP4 (Y218H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208789	NM_006437.4(PARP4):c.632C>T (p.Ala211Val)	PARP4 (A211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208788	NM_006437.4(PARP4):c.4778G>T (p.Gly1593Val)	PARP4 (G1593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208787	NM_006437.4(PARP4):c.4681A>G (p.Ile1561Val)	PARP4 (I1561V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208786	NM_006437.4(PARP4):c.43G>T (p.Val15Leu)	PARP4 (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208784	NM_006437.4(PARP4):c.4313A>G (p.His1438Arg)	PARP4 (H1438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208783	NM_006437.4(PARP4):c.4294C>A (p.Leu1432Met)	PARP4 (L1432M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208782	NM_006437.4(PARP4):c.3994C>G (p.Arg1332Gly)	PARP4 (R1332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208780	NM_006437.4(PARP4):c.3892A>C (p.Thr1298Pro)	PARP4 (T1298P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208779	NM_006437.4(PARP4):c.3749T>C (p.Met1250Thr)	PARP4 (M1250T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208778	NM_006437.4(PARP4):c.3730C>T (p.Pro1244Ser)	PARP4 (P1244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208777	NM_006437.4(PARP4):c.3542G>A (p.Arg1181Lys)	PARP4 (R1181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208776	NM_006437.4(PARP4):c.3473T>C (p.Leu1158Pro)	PARP4 (L1158P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208775	NM_006437.4(PARP4):c.3391G>A (p.Ala1131Thr)	PARP4 (A1131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208774	NM_006437.4(PARP4):c.3190G>T (p.Asp1064Tyr)	PARP4 (D1064Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208773	NM_006437.4(PARP4):c.3166G>A (p.Val1056Ile)	PARP4 (V1056I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208772	NM_006437.4(PARP4):c.2981G>A (p.Arg994His)	PARP4 (R994H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208771	NM_006437.4(PARP4):c.2680C>G (p.Gln894Glu)	PARP4 (Q894E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208770	NM_006437.4(PARP4):c.2132C>T (p.Pro711Leu)	PARP4 (P711L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208769	NM_006437.4(PARP4):c.1665G>C (p.Gln555His)	PARP4 (Q555H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208768	NM_006437.4(PARP4):c.1301G>A (p.Arg434Lys)	PARP4 (R434K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208767	NM_006437.4(PARP4):c.1192G>A (p.Glu398Lys)	PARP4 (E398K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208766	NM_006437.4(PARP4):c.118T>C (p.Ser40Pro)	LOC124849297, PARP4 (S40P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208765	NM_006437.4(PARP4):c.1104C>A (p.Asn368Lys)	PARP4 (N368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 3025519	NM_006437.4(PARP4):c.205G>A (p.Val69Ile)	PARP4 (V69I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2798132	NM_006437.4(PARP4):c.3286-12dup	PARP4	Duplication (intron variant)	not provided	GBenign
Select item 2796426	NM_006437.4(PARP4):c.4980-8dup	PARP4	Duplication (intron variant)	not provided	GBenign
Select item 2643692	NM_006437.4(PARP4):c.113C>T (p.Ser38Phe)	LOC124849297, PARP4 (S38F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643691	NM_006437.4(PARP4):c.506T>G (p.Val169Gly)	PARP4 (V169G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2643690	NM_006437.4(PARP4):c.1407C>T (p.Val469=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2643688	NM_006437.4(PARP4):c.2577C>T (p.Val859=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643687	NM_006437.4(PARP4):c.3549G>A (p.Glu1183=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643686	NM_006437.4(PARP4):c.3618G>T (p.Leu1206=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2643684	NM_006437.4(PARP4):c.5040A>G (p.Glu1680=)	PARP4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622133	NM_006437.4(PARP4):c.95A>C (p.Glu32Ala)	LOC124849297, PARP4 (E32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619101	NM_006437.4(PARP4):c.3667T>G (p.Ser1223Ala)	PARP4 (S1223A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619058	NM_006437.4(PARP4):c.4885A>T (p.Thr1629Ser)	PARP4 (T1629S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615469	NM_006437.4(PARP4):c.3446A>G (p.Glu1149Gly)	PARP4 (E1149G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597357	NM_006437.4(PARP4):c.4645A>G (p.Ile1549Val)	PARP4 (I1549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595410	NM_006437.4(PARP4):c.1592A>G (p.His531Arg)	PARP4 (H531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588809	NM_006437.4(PARP4):c.2808G>A (p.Met936Ile)	PARP4 (M936I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546212	NM_006437.4(PARP4):c.3902T>C (p.Leu1301Pro)	PARP4 (L1301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545721	NM_006437.4(PARP4):c.854C>T (p.Pro285Leu)	PARP4 (P285L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531342	NM_006437.4(PARP4):c.1906G>C (p.Val636Leu)	PARP4 (V636L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515457	NM_006437.4(PARP4):c.3748A>G (p.Met1250Val)	PARP4 (M1250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515047	NM_006437.4(PARP4):c.3260A>G (p.Tyr1087Cys)	PARP4 (Y1087C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508707	NM_006437.4(PARP4):c.2497A>G (p.Ile833Val)	PARP4 (I833V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507776	NM_006437.4(PARP4):c.2123A>G (p.Gln708Arg)	PARP4 (Q708R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494129	NM_006437.4(PARP4):c.3625A>G (p.Met1209Val)	PARP4 (M1209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485187	NM_006437.4(PARP4):c.1220G>A (p.Ser407Asn)	PARP4 (S407N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483931	NM_006437.4(PARP4):c.3086C>A (p.Ala1029Glu)	PARP4 (A1029E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479361	NM_006437.4(PARP4):c.2964G>C (p.Gln988His)	PARP4 (Q988H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473039	NM_006437.4(PARP4):c.5093C>T (p.Ser1698Phe)	PARP4 (S1698F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471684	NM_006437.4(PARP4):c.2908C>T (p.Arg970Trp)	PARP4 (R970W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470082	NM_006437.4(PARP4):c.1385G>A (p.Arg462His)	PARP4 (R462H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2469376	NM_006437.4(PARP4):c.3064G>A (p.Gly1022Arg)	PARP4 (G1022R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464167	NM_006437.4(PARP4):c.990C>G (p.His330Gln)	PARP4 (H330Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457326	NM_006437.4(PARP4):c.2188A>C (p.Lys730Gln)	PARP4 (K730Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457325	NM_006437.4(PARP4):c.188C>A (p.Ser63Tyr)	PARP4 (S63Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426474	NC_000013.10:g.(?_24293859)_(26594123_?)del	AMER2, ATP12A +12 more	Deletion	not provided	GPathogenic
Select item 2412403	NM_006437.4(PARP4):c.586A>G (p.Met196Val)	PARP4 (M196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409798	NM_006437.4(PARP4):c.487G>A (p.Glu163Lys)	PARP4 (E163K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404403	NM_006437.4(PARP4):c.3962C>T (p.Pro1321Leu)	PARP4 (P1321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395916	NM_006437.4(PARP4):c.3884C>T (p.Pro1295Leu)	PARP4 (P1295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385348	NM_006437.4(PARP4):c.4057G>C (p.Ala1353Pro)	PARP4 (A1353P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381015	NM_006437.4(PARP4):c.1408G>A (p.Gly470Arg)	PARP4 (G470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379454	NM_006437.4(PARP4):c.4574G>A (p.Ser1525Asn)	PARP4 (S1525N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373316	NM_006437.4(PARP4):c.1940A>G (p.Asn647Ser)	PARP4 (N647S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368435	NM_006437.4(PARP4):c.3295T>C (p.Cys1099Arg)	PARP4 (C1099R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361293	NM_006437.4(PARP4):c.3986C>T (p.Pro1329Leu)	PARP4 (P1329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355806	NM_006437.4(PARP4):c.2429C>T (p.Thr810Ile)	PARP4 (T810I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349400	NM_006437.4(PARP4):c.1405G>A (p.Val469Ile)	PARP4 (V469I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347707	NM_006437.4(PARP4):c.4124A>T (p.Asp1375Val)	PARP4 (D1375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344754	NM_006437.4(PARP4):c.4154C>T (p.Thr1385Ile)	PARP4 (T1385I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332909	NM_006437.4(PARP4):c.4048T>C (p.Phe1350Leu)	PARP4 (F1350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331137	NM_006437.4(PARP4):c.898A>G (p.Ile300Val)	PARP4 (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329391	NM_006437.4(PARP4):c.3636G>T (p.Gln1212His)	PARP4 (Q1212H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326572	NM_006437.4(PARP4):c.2062G>A (p.Glu688Lys)	PARP4 (E688K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321540	NM_006437.4(PARP4):c.2800A>C (p.Asn934His)	PARP4 (N934H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321293	NM_006437.4(PARP4):c.5137T>C (p.Ser1713Pro)	PARP4 (S1713P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314929	NM_006437.4(PARP4):c.2084A>C (p.Glu695Ala)	PARP4 (E695A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312353	NM_006437.4(PARP4):c.3659G>A (p.Arg1220Lys)	PARP4 (R1220K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2312221	NM_006437.4(PARP4):c.985C>A (p.Pro329Thr)	PARP4 (P329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312083	NM_006437.4(PARP4):c.4598A>G (p.Gln1533Arg)	PARP4 (Q1533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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