ClinVar for Gene (Select 53347) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330551	NM_018961.4(UBASH3A):c.1808C>A (p.Pro603Gln)	UBASH3A (P603Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330550	NM_018961.4(UBASH3A):c.314A>C (p.His105Pro)	UBASH3A (H105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330549	NM_018961.4(UBASH3A):c.1691G>A (p.Arg564Lys)	UBASH3A (R526K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330548	NM_018961.4(UBASH3A):c.1565C>T (p.Thr522Ile)	UBASH3A (T522I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330547	NM_018961.4(UBASH3A):c.278G>A (p.Arg93Lys)	UBASH3A (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330546	NM_018961.4(UBASH3A):c.1801G>A (p.Gly601Arg)	UBASH3A (G601R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330545	NM_018961.4(UBASH3A):c.796G>A (p.Ala266Thr)	UBASH3A (A228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330544	NM_018961.4(UBASH3A):c.1813C>T (p.Arg605Trp)	UBASH3A (R567W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330543	NM_018961.4(UBASH3A):c.1730C>T (p.Pro577Leu)	UBASH3A (P539L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330542	NM_018961.4(UBASH3A):c.643G>A (p.Val215Met)	UBASH3A (V215M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3330541	NM_018961.4(UBASH3A):c.1948G>A (p.Ala650Thr)	UBASH3A (A612T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330540	NM_018961.4(UBASH3A):c.1790G>A (p.Arg597Gln)	UBASH3A (R597Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330539	NM_018961.4(UBASH3A):c.934G>A (p.Glu312Lys)	UBASH3A (E274K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3185499	NM_018961.4(UBASH3A):c.815A>C (p.Asp272Ala)	UBASH3A (D234A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185498	NM_018961.4(UBASH3A):c.790T>C (p.Trp264Arg)	UBASH3A (W226R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185497	NM_018961.4(UBASH3A):c.70C>T (p.Leu24Phe)	UBASH3A (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185496	NM_018961.4(UBASH3A):c.562G>A (p.Val188Ile)	UBASH3A (V188I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185495	NM_018961.4(UBASH3A):c.508C>T (p.Arg170Trp)	UBASH3A (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185494	NM_018961.4(UBASH3A):c.42C>A (p.Asn14Lys)	UBASH3A (N14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185493	NM_018961.4(UBASH3A):c.1974C>G (p.Ile658Met)	UBASH3A (I620M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185492	NM_018961.4(UBASH3A):c.1939G>A (p.Gly647Arg)	UBASH3A (G609R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185491	NM_018961.4(UBASH3A):c.1910T>C (p.Val637Ala)	UBASH3A (V637A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185490	NM_018961.4(UBASH3A):c.1808C>T (p.Pro603Leu)	UBASH3A (P603L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185488	NM_018961.4(UBASH3A):c.1574C>T (p.Thr525Ile)	UBASH3A (T487I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185486	NM_018961.4(UBASH3A):c.1369G>A (p.Gly457Ser)	UBASH3A (G419S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185485	NM_018961.4(UBASH3A):c.1117G>A (p.Gly373Arg)	UBASH3A (G373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062437	GRCh37/hg19 21q22.3(chr21:43799611-43825280)x1	TMPRSS3, UBASH3A	Copy number loss	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3030883	NM_018961.4(UBASH3A):c.285C>T (p.Ser95=)	UBASH3A	Single nucleotide variant (synonymous variant)	UBASH3A-related disorder	GLikely benign
Select item 2685669	GRCh37/hg19 21q22.3(chr21:43804158-43904003)x1	RSPH1, TMPRSS3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685668	GRCh37/hg19 21q22.3(chr21:43744956-43957325)x1	RSPH1, SLC37A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684918	GRCh37/hg19 21q22.3(chr21:43744362-44784657)x3	CBS, CRYAA +11 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2652706	NM_018961.4(UBASH3A):c.150G>A (p.Ala50=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604599	NM_018961.4(UBASH3A):c.874G>A (p.Val292Met)	UBASH3A (V254M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600284	NM_018961.4(UBASH3A):c.521T>C (p.Met174Thr)	UBASH3A (M174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591553	NM_018961.4(UBASH3A):c.481G>A (p.Val161Ile)	UBASH3A (V161I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2562833	NM_018961.4(UBASH3A):c.1387A>T (p.Ile463Phe)	UBASH3A (I463F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2545583	NM_018961.4(UBASH3A):c.427C>T (p.Pro143Ser)	UBASH3A (P143S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542981	NM_018961.4(UBASH3A):c.1453C>T (p.Arg485Cys)	UBASH3A (R447C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523337	NM_018961.4(UBASH3A):c.1741G>A (p.Gly581Ser)	UBASH3A (G543S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493117	NM_018961.4(UBASH3A):c.1316G>A (p.Arg439Lys)	UBASH3A (R439K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477360	NM_018961.4(UBASH3A):c.1689C>A (p.Asp563Glu)	UBASH3A (D525E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466536	NM_018961.4(UBASH3A):c.1646T>G (p.Leu549Arg)	UBASH3A (L511R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455756	NM_018961.4(UBASH3A):c.1501A>G (p.Lys501Glu)	UBASH3A (K501E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2405941	NM_018961.4(UBASH3A):c.101C>T (p.Pro34Leu)	UBASH3A (P34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402845	NM_018961.4(UBASH3A):c.879T>G (p.Asp293Glu)	UBASH3A (D255E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391455	NM_018961.4(UBASH3A):c.1234G>A (p.Gly412Arg)	UBASH3A (G374R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365507	NM_018961.4(UBASH3A):c.1862G>A (p.Gly621Asp)	UBASH3A (G583D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364040	NM_018961.4(UBASH3A):c.1318C>T (p.Arg440Trp)	UBASH3A (R440W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360047	NM_018961.4(UBASH3A):c.22C>A (p.Leu8Ile)	UBASH3A (L8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350881	NM_018961.4(UBASH3A):c.1787C>A (p.Thr596Lys)	UBASH3A (T558K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349896	NM_018961.4(UBASH3A):c.1615A>G (p.Ile539Val)	UBASH3A (I501V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304511	NM_018961.4(UBASH3A):c.1615A>C (p.Ile539Leu)	UBASH3A (I539L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301395	NM_018961.4(UBASH3A):c.761G>A (p.Arg254Lys)	UBASH3A (R216K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288138	NM_018961.4(UBASH3A):c.649C>T (p.His217Tyr)	UBASH3A (H217Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285487	NM_018961.4(UBASH3A):c.1637C>T (p.Ala546Val)	UBASH3A (A508V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269441	NM_018961.4(UBASH3A):c.146C>T (p.Thr49Met)	UBASH3A (T49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262231	NM_018961.4(UBASH3A):c.1076T>C (p.Leu359Pro)	UBASH3A (L359P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259274	NM_018961.4(UBASH3A):c.952G>A (p.Val318Met)	UBASH3A (V280M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258337	NM_018961.4(UBASH3A):c.529G>A (p.Ala177Thr)	UBASH3A (A177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247076	NM_018961.4(UBASH3A):c.1890G>T (p.Glu630Asp)	UBASH3A (E592D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245051	NM_018961.4(UBASH3A):c.68C>T (p.Ser23Leu)	UBASH3A (S23L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231940	NM_018961.4(UBASH3A):c.50A>G (p.Lys17Arg)	UBASH3A (K17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231939	NM_018961.4(UBASH3A):c.284G>T (p.Ser95Ile)	UBASH3A (S95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218244	NM_018961.4(UBASH3A):c.363C>A (p.Asp121Glu)	UBASH3A (D121E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-9, KRTAP12-1 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1232058	NM_018961.4(UBASH3A):c.1393+3A>C	UBASH3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	not provided	GUncertain significance
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816173	GRCh37/hg19 21q22.3(chr21:43822539-44974001)x3	HSF2BP, SLC37A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 781595	NM_018961.4(UBASH3A):c.1803G>A (p.Gly601=)	UBASH3A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 769477	NM_018961.4(UBASH3A):c.912T>C (p.Phe304=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730924	NM_018961.4(UBASH3A):c.432G>T (p.Thr144=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 729705	NM_018961.4(UBASH3A):c.1176C>T (p.Thr392=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723472	NM_018961.4(UBASH3A):c.1972A>G (p.Ile658Val)	UBASH3A (I658V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723471	NM_018961.4(UBASH3A):c.909C>T (p.Ile303=)	UBASH3A	Single nucleotide variant (synonymous variant)	not provided	GBenign

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