PARP10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148265	GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3	TOP1MT, TRAPPC9 +373 more	Copy number gain	See cases	GLikely pathogenic
Select item 148392	GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3	ADCK5, ADGRB1 +375 more	Copy number gain	See cases	GLikely pathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 146735	GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1	ADGRB1, ARC +140 more	Copy number loss	See cases	GPathogenic
Select item 60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	BOP1, CCDC166 +87 more	Copy number loss	See cases	GPathogenic
Select item 2306039	NM_032789.5(PARP10):c.3073A>T (p.Thr1025Ser)	PARP10 (T1025S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208691	NM_032789.5(PARP10):c.3046T>A (p.Ser1016Thr)	PARP10 (S1028T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366729	NM_032789.5(PARP10):c.3013G>A (p.Glu1005Lys)	PARP10 (E1005K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349222	NM_032789.5(PARP10):c.2962T>G (p.Phe988Val)	PARP10 (F988V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374419	NM_032789.5(PARP10):c.2953C>A (p.Pro985Thr)	PARP10 (P997T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340888	NM_032789.5(PARP10):c.2940C>A (p.Asp980Glu)	PARP10 (D992E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337644	NM_032789.5(PARP10):c.2939A>G (p.Asp980Gly)	PARP10 (D992G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403002	NM_032789.5(PARP10):c.2933C>T (p.Ala978Val)	PARP10 (A978V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549462	NM_032789.5(PARP10):c.2926G>C (p.Asp976His)	PARP10 (D976H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343307	NM_032789.5(PARP10):c.2825C>T (p.Ala942Val)	PARP10 (A942V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389444	NM_032789.5(PARP10):c.2804C>G (p.Pro935Arg)	PARP10 (P935R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488474	NM_032789.5(PARP10):c.2780C>T (p.Ser927Leu)	PARP10 (S927L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250321	NM_032789.5(PARP10):c.2719T>A (p.Cys907Ser)	LOC130001354, PARP10 (C919S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208690	NM_032789.5(PARP10):c.2669C>T (p.Thr890Met)	LOC130001354, PARP10 (T890M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313250	NM_032789.5(PARP10):c.2584C>G (p.Gln862Glu)	PARP10 (Q862E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460214	NM_032789.5(PARP10):c.2579T>C (p.Leu860Pro)	PARP10 (L872P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 757475	NM_032789.5(PARP10):c.2550C>T (p.Val850=)	PARP10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3208687	NM_032789.5(PARP10):c.2504G>A (p.Arg835Gln)	PARP10 (R847Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242089	NM_032789.5(PARP10):c.2503C>T (p.Arg835Trp)	PARP10 (R835W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658960	NM_032789.5(PARP10):c.2487G>C (p.Glu829Asp)	PARP10 (E829D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3208686	NM_032789.5(PARP10):c.2483G>A (p.Gly828Glu)	PARP10 (G828E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535751	NM_032789.5(PARP10):c.2461G>A (p.Glu821Lys)	PARP10 (E821K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480164	NM_032789.5(PARP10):c.2443G>A (p.Gly815Arg)	PARP10 (G827R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345066	NM_032789.5(PARP10):c.2435C>T (p.Thr812Met)	PARP10 (T824M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282994	NM_032789.5(PARP10):c.2393C>T (p.Ala798Val)	PARP10 (A798V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338851	NM_032789.5(PARP10):c.2348G>A (p.Arg783His)	PARP10 (R783H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340312	NM_032789.5(PARP10):c.2266C>T (p.Arg756Trp)	PARP10 (R756W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229695	NM_032789.5(PARP10):c.2258G>A (p.Arg753His)	PARP10 (R765H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208685	NM_032789.5(PARP10):c.2252G>T (p.Arg751Leu)	PARP10 (R751L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2658961	NM_032789.5(PARP10):c.2252G>A (p.Arg751His)	PARP10 (R751H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3208684	NM_032789.5(PARP10):c.2227C>A (p.Arg743Ser)	PARP10 (R743S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590432	NM_032789.5(PARP10):c.2171G>A (p.Arg724Gln)	PARP10 (R724Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2340740	NM_032789.5(PARP10):c.2102G>A (p.Gly701Glu)	PARP10 (G701E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410625	NM_032789.5(PARP10):c.2101G>T (p.Gly701Trp)	PARP10 (G701W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208683	NM_032789.5(PARP10):c.2071C>G (p.Pro691Ala)	PARP10 (P691A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208682	NM_032789.5(PARP10):c.2039G>A (p.Arg680Gln)	PARP10 (R692Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408644	NM_032789.5(PARP10):c.1985G>A (p.Arg662Gln)	PARP10 (R662Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208680	NM_032789.5(PARP10):c.1984C>T (p.Arg662Trp)	PARP10 (R662W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369924	NM_032789.5(PARP10):c.1972C>G (p.Leu658Val)	PARP10 (L670V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518029	NM_032789.5(PARP10):c.1940C>T (p.Pro647Leu)	PARP10 (P647L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208679	NM_032789.5(PARP10):c.1825G>A (p.Gly609Arg)	PARP10 (G609R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468686	NM_032789.5(PARP10):c.1743C>G (p.Asp581Glu)	PARP10 (D593E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600497	NM_032789.5(PARP10):c.1736C>A (p.Thr579Asn)	PARP10 (T579N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457088	NM_032789.5(PARP10):c.1708C>T (p.Leu570Phe)	PARP10 (L582F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514286	NM_032789.5(PARP10):c.1681G>A (p.Val561Met)	PARP10 (V561M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208678	NM_032789.5(PARP10):c.1660T>G (p.Leu554Val)	PARP10 (L554V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588400	NM_032789.5(PARP10):c.1561G>T (p.Ala521Ser)	PARP10 (A533S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547874	NM_032789.5(PARP10):c.1561G>A (p.Ala521Thr)	PARP10 (A533T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402659	NM_032789.5(PARP10):c.1525A>G (p.Ser509Gly)	PARP10 (S509G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483461	NM_032789.5(PARP10):c.1505G>A (p.Arg502Gln)	PARP10 (R502Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2535353	NM_032789.5(PARP10):c.1474G>A (p.Ala492Thr)	PARP10 (A504T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267238	NM_032789.5(PARP10):c.1456C>T (p.Arg486Trp)	PARP10 (R486W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208676	NM_032789.5(PARP10):c.1439C>G (p.Pro480Arg)	PARP10 (P480R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224314	NM_032789.5(PARP10):c.1439C>T (p.Pro480Leu)	PARP10 (P492L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286239	NM_032789.5(PARP10):c.1318C>G (p.Gln440Glu)	PARP10 (Q440E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515487	NM_032789.5(PARP10):c.1230A>C (p.Gln410His)	PARP10 (Q410H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621236	NM_032789.5(PARP10):c.1144G>A (p.Val382Met)	PARP10 (V394M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409933	NM_032789.5(PARP10):c.955A>T (p.Ile319Phe)	PARP10 (I319F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409932	NM_032789.5(PARP10):c.944A>C (p.Gln315Pro)	PARP10 (Q315P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272131	NM_032789.5(PARP10):c.838A>G (p.Thr280Ala)	PARP10 (T280A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320839	NM_032789.5(PARP10):c.829C>T (p.Leu277Phe)	PARP10 (L289F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457085	NM_032789.5(PARP10):c.818C>T (p.Thr273Ile)	PARP10 (T285I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713510	NM_032789.5(PARP10):c.732C>T (p.Val244=)	PARP10	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 804412	NM_032789.5(PARP10):c.647_648del (p.Thr216fs)	PARP10 (T216fs +1 more)	Deletion (frameshift variant +1 more)	Developmental delay	GLikely pathogenic
Select item 2407911	NM_032789.5(PARP10):c.647C>T (p.Thr216Ile)	PARP10 (T216I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719537	NM_032789.5(PARP10):c.589C>T (p.Arg197Cys)	PARP10 (R197C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3208693	NM_032789.5(PARP10):c.587A>G (p.Glu196Gly)	PARP10 (E208G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538992	NM_032789.5(PARP10):c.526C>T (p.Arg176Cys)	PARP10 (R188C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400926	NM_032789.5(PARP10):c.503G>A (p.Arg168Gln)	PARP10 (R168Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 736393	NM_032789.5(PARP10):c.472G>A (p.Gly158Ser)	PARP10 (G170S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2388811	NM_032789.5(PARP10):c.467A>T (p.Asn156Ile)	PARP10 (N156I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208692	NM_032789.5(PARP10):c.445G>A (p.Val149Ile)	PARP10 (V149I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620096	NM_032789.5(PARP10):c.403C>G (p.Leu135Val)	PARP10 (L135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259338	NM_032789.5(PARP10):c.397C>T (p.Arg133Trp)	PARP10 (R133W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377045	NM_032789.5(PARP10):c.389G>A (p.Arg130Gln)	PARP10 (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307574	NM_032789.5(PARP10):c.388C>T (p.Arg130Trp)	PARP10 (R142W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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