25895[HGNC] - 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	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 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 3304350	NM_032789.5(PARP10):c.2808C>A (p.Asn936Lys)	PARP10 (N948K +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 3304366	NM_032789.5(PARP10):c.2735C>A (p.Thr912Lys)	LOC130001354, PARP10 (T912K +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 3304364	NM_032789.5(PARP10):c.2482G>C (p.Gly828Arg)	PARP10 (G828R +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 3304352	NM_032789.5(PARP10):c.2251C>T (p.Arg751Cys)	PARP10 (R751C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3304351	NM_032789.5(PARP10):c.2230C>T (p.Arg744Cys)	PARP10 (R744C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3304358	NM_032789.5(PARP10):c.1993G>C (p.Glu665Gln)	PARP10 (E665Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3304359	NM_032789.5(PARP10):c.1658C>T (p.Thr553Met)	PARP10 (T553M +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 provided +1 more	GLikely benign
Select item 3304354	NM_032789.5(PARP10):c.1496A>G (p.Glu499Gly)	PARP10 (E499G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3304357	NM_032789.5(PARP10):c.1471C>G (p.Gln491Glu)	PARP10 (Q491E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3304362	NM_032789.5(PARP10):c.968G>A (p.Gly323Asp)	PARP10 (G323D +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 3304353	NM_032789.5(PARP10):c.905G>A (p.Gly302Glu)	PARP10 (G314E +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 3304363	NM_032789.5(PARP10):c.802C>G (p.Gln268Glu)	PARP10 (Q268E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304365	NM_032789.5(PARP10):c.751G>A (p.Glu251Lys)	PARP10 (E251K +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

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