ClinVar for Gene (Select 54625) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304383	NM_017554.3(PARP14):c.5137A>T (p.Thr1713Ser)	PARP14 (T1713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304382	NM_017554.3(PARP14):c.2941A>G (p.Thr981Ala)	PARP14 (T981A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304380	NM_017554.3(PARP14):c.5176A>T (p.Thr1726Ser)	PARP14 (T1726S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304379	NM_017554.3(PARP14):c.3020G>A (p.Ser1007Asn)	PARP14 (S1007N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304378	NM_017554.3(PARP14):c.852G>A (p.Met284Ile)	PARP14 (M284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304377	NM_017554.3(PARP14):c.2623C>G (p.His875Asp)	PARP14 (H875D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304376	NM_017554.3(PARP14):c.2156G>T (p.Gly719Val)	PARP14 (G719V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304375	NM_017554.3(PARP14):c.3611A>T (p.Asp1204Val)	PARP14 (D1204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304374	NM_017554.3(PARP14):c.4556G>A (p.Arg1519Gln)	PARP14 (R1519Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304373	NM_017554.3(PARP14):c.4532T>C (p.Ile1511Thr)	PARP14 (I1511T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304372	NM_017554.3(PARP14):c.629A>G (p.Lys210Arg)	PARP14 (K210R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3304371	NM_017554.3(PARP14):c.4391T>C (p.Ile1464Thr)	PARP14 (I1464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304370	NM_017554.3(PARP14):c.1049G>A (p.Arg350His)	PARP14 (R350H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208732	NM_017554.3(PARP14):c.952C>G (p.Leu318Val)	PARP14 (L318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208731	NM_017554.3(PARP14):c.493C>G (p.Leu165Val)	PARP14 (L165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208730	NM_017554.3(PARP14):c.4790G>A (p.Arg1597His)	PARP14 (R1597H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208729	NM_017554.3(PARP14):c.4721G>A (p.Arg1574Gln)	PARP14 (R1574Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208728	NM_017554.3(PARP14):c.4388G>A (p.Cys1463Tyr)	PARP14 (C1463Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208727	NM_017554.3(PARP14):c.388C>T (p.Leu130Phe)	PARP14 (L130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208726	NM_017554.3(PARP14):c.3887A>G (p.Lys1296Arg)	PARP14 (K1296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208725	NM_017554.3(PARP14):c.3884G>T (p.Cys1295Phe)	PARP14 (C1295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208724	NM_017554.3(PARP14):c.386C>G (p.Pro129Arg)	PARP14 (P129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208723	NM_017554.3(PARP14):c.3677C>A (p.Ser1226Tyr)	PARP14 (S1226Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208722	NM_017554.3(PARP14):c.299T>C (p.Phe100Ser)	PARP14 (F100S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208721	NM_017554.3(PARP14):c.2934T>G (p.Phe978Leu)	PARP14 (F978L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208720	NM_017554.3(PARP14):c.2809A>G (p.Ile937Val)	PARP14 (I937V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208719	NM_017554.3(PARP14):c.2651G>A (p.Arg884His)	PARP14 (R884H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208718	NM_017554.3(PARP14):c.259G>A (p.Val87Ile)	PARP14 (V87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208717	NM_017554.3(PARP14):c.2582C>T (p.Pro861Leu)	PARP14 (P861L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208716	NM_017554.3(PARP14):c.2345A>G (p.Lys782Arg)	PARP14 (K782R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208715	NM_017554.3(PARP14):c.2273C>T (p.Ala758Val)	PARP14 (A758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208714	NM_017554.3(PARP14):c.2256G>T (p.Gln752His)	PARP14 (Q752H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208713	NM_017554.3(PARP14):c.1525T>C (p.Cys509Arg)	PARP14 (C509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208712	NM_017554.3(PARP14):c.1036G>A (p.Asp346Asn)	PARP14 (D346N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624293	NM_017554.3(PARP14):c.3808G>A (p.Val1270Ile)	PARP14 (V1270I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620052	NM_017554.3(PARP14):c.4863G>C (p.Glu1621Asp)	PARP14 (E1621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618477	NM_017554.3(PARP14):c.1067C>T (p.Thr356Met)	PARP14 (T356M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615806	NM_017554.3(PARP14):c.3253G>A (p.Asp1085Asn)	PARP14 (D1085N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600333	NM_017554.3(PARP14):c.2168A>C (p.Glu723Ala)	PARP14 (E723A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589234	NM_017554.3(PARP14):c.2437C>T (p.Arg813Trp)	PARP14 (R813W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587993	NM_017554.3(PARP14):c.3970T>G (p.Ser1324Ala)	PARP14 (S1324A)	Single nucleotide variant (missense variant)	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 2558385	NM_017554.3(PARP14):c.1121A>G (p.Asn374Ser)	PARP14 (N374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552211	NM_017554.3(PARP14):c.2351G>C (p.Gly784Ala)	PARP14 (G784A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548920	NM_017554.3(PARP14):c.3604G>T (p.Ala1202Ser)	PARP14 (A1202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548075	NM_017554.3(PARP14):c.2318T>C (p.Ile773Thr)	PARP14 (I773T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546347	NM_017554.3(PARP14):c.2947C>A (p.Pro983Thr)	PARP14 (P983T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517510	NM_017554.3(PARP14):c.4589G>C (p.Cys1530Ser)	PARP14 (C1530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510052	NM_017554.3(PARP14):c.2108A>G (p.Gln703Arg)	PARP14 (Q703R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509033	NM_017554.3(PARP14):c.2800G>A (p.Val934Met)	PARP14 (V934M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490803	NM_017554.3(PARP14):c.1153G>T (p.Ala385Ser)	PARP14 (A385S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482838	NM_017554.3(PARP14):c.2799C>G (p.Cys933Trp)	PARP14 (C933W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481500	NM_017554.3(PARP14):c.3327A>C (p.Glu1109Asp)	PARP14 (E1109D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481319	NM_017554.3(PARP14):c.4246A>G (p.Asn1416Asp)	PARP14 (N1416D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477991	NM_017554.3(PARP14):c.2323C>A (p.Leu775Ile)	PARP14 (L775I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477429	NM_017554.3(PARP14):c.303A>C (p.Glu101Asp)	PARP14 (E101D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473654	NM_017554.3(PARP14):c.425A>G (p.Glu142Gly)	PARP14 (E142G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461317	NM_017554.3(PARP14):c.190C>T (p.Arg64Trp)	PARP14 (R64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460085	NM_017554.3(PARP14):c.1381A>G (p.Lys461Glu)	PARP14 (K461E)	Single nucleotide variant (missense variant)	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 2407797	NM_017554.3(PARP14):c.1715G>A (p.Gly572Asp)	PARP14 (G572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398702	NM_017554.3(PARP14):c.2503G>A (p.Ala835Thr)	PARP14 (A835T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397075	NM_017554.3(PARP14):c.3178G>A (p.Glu1060Lys)	PARP14 (E1060K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371977	NM_017554.3(PARP14):c.1475C>T (p.Thr492Met)	PARP14 (T492M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364115	NM_017554.3(PARP14):c.806C>T (p.Ser269Leu)	PARP14 (S269L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356723	NM_017554.3(PARP14):c.2396C>A (p.Ala799Asp)	PARP14 (A799D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346859	NM_017554.3(PARP14):c.2977C>T (p.Pro993Ser)	PARP14 (P993S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346702	NM_017554.3(PARP14):c.4796C>A (p.Thr1599Lys)	PARP14 (T1599K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342173	NM_017554.3(PARP14):c.3659A>G (p.Tyr1220Cys)	PARP14 (Y1220C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339207	NM_017554.3(PARP14):c.3705T>G (p.Asp1235Glu)	PARP14 (D1235E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338305	NM_017554.3(PARP14):c.71A>T (p.Asn24Ile)	PARP14 (N24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338007	NM_017554.3(PARP14):c.4891A>G (p.Thr1631Ala)	PARP14 (T1631A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336076	NM_017554.3(PARP14):c.3284C>T (p.Pro1095Leu)	PARP14 (P1095L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325660	NM_017554.3(PARP14):c.3085G>A (p.Asp1029Asn)	PARP14 (D1029N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325092	NM_017554.3(PARP14):c.2659G>A (p.Gly887Arg)	PARP14 (G887R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316762	NM_017554.3(PARP14):c.289G>A (p.Asp97Asn)	PARP14 (D97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307601	NM_017554.3(PARP14):c.3599C>T (p.Pro1200Leu)	PARP14 (P1200L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306701	NM_017554.3(PARP14):c.2381C>G (p.Ser794Cys)	PARP14 (S794C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297946	NM_017554.3(PARP14):c.1225A>G (p.Met409Val)	PARP14 (M409V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2295405	NM_017554.3(PARP14):c.241G>A (p.Gly81Arg)	PARP14 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292248	NM_017554.3(PARP14):c.1294A>G (p.Met432Val)	PARP14 (M432V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290178	NM_017554.3(PARP14):c.3859A>G (p.Ile1287Val)	PARP14 (I1287V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282995	NM_017554.3(PARP14):c.1681G>A (p.Ala561Thr)	PARP14 (A561T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277967	NM_017554.3(PARP14):c.3353T>G (p.Ile1118Ser)	PARP14 (I1118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269041	NM_017554.3(PARP14):c.2097G>T (p.Lys699Asn)	PARP14 (K699N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261747	NM_017554.3(PARP14):c.5059G>A (p.Gly1687Ser)	PARP14 (G1687S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260252	NM_017554.3(PARP14):c.3166C>T (p.Pro1056Ser)	PARP14 (P1056S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228374	NM_017554.3(PARP14):c.110C>T (p.Ser37Leu)	PARP14 (S37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223536	NM_017554.3(PARP14):c.1750G>A (p.Ala584Thr)	PARP14 (A584T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217120	NM_017554.3(PARP14):c.1248T>G (p.Asp416Glu)	PARP14 (D416E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213086	NM_017554.3(PARP14):c.2830A>T (p.Asn944Tyr)	PARP14 (N944Y)	Single nucleotide variant (missense variant)	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 814474	GRCh37/hg19 3q21.1(chr3:122408684-122753973)x3	PARP14, SEMA5B +2 more	Copy number gain	not provided	GUncertain significance
Select item 787256	NM_017554.3(PARP14):c.4238A>C (p.Gln1413Pro)	PARP14 (Q1413P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780407	NM_017554.3(PARP14):c.1462G>A (p.Asp488Asn)	PARP14 (D488N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778108	NM_017554.3(PARP14):c.4538C>T (p.Ala1513Val)	PARP14 (A1513V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 778107	NM_017554.3(PARP14):c.2592C>T (p.Ala864=)	PARP14	Single nucleotide variant (synonymous variant)	not provided	GBenign

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