6239[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 1210683	NM_001378969.1(KCND3):c.*257dup	KCND3	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1197975	NM_001378969.1(KCND3):c.*225T>C	KCND3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1267630	NM_001378969.1(KCND3):c.*215T>C	KCND3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 934368	NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)	KCND3 (A635T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 508338	NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2028410	NM_001378969.1(KCND3):c.1950C>A (p.Val650=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1027158	NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)	KCND3 (V630A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 954104	NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)	KCND3 (N629S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1783070	NM_001378969.1(KCND3):c.1942A>G (p.Asn648Asp)	KCND3 (N648D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2504256	NM_001378969.1(KCND3):c.1937C>A (p.Ala646Asp)	KCND3 (A627D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 579054	NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr)	KCND3 (I645T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 533724	NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)	KCND3 (I642F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1782672	NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1782617	NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)	KCND3 (T640M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 465168	NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys)	KCND3 (N639K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1782178	NM_001378969.1(KCND3):c.1897C>A (p.Pro633Thr)	KCND3 (P633T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782136	NM_001378969.1(KCND3):c.1895C>G (p.Pro632Arg)	KCND3 (P632R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1410725	NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)	KCND3 (P632L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1167396	NM_001378969.1(KCND3):c.1890G>A (p.Arg630=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign
Select item 934670	NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)	KCND3 (R611Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GUncertain significance
Select item 1782011	NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp)	KCND3 (R630W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490888	NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys)	KCND3 (S629C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 647173	NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)	KCND3 (G608R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GUncertain significance
Select item 1375980	NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser)	KCND3 (P625S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1781584	NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2839245	NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)	KCND3 (A603E +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1140881	NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val)	KCND3 (A603V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1057886	NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)	KCND3 (A603S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1407304	NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)	KCND3 (P602A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1441909	NM_001378969.1(KCND3):c.1859C>A (p.Pro620His)	KCND3 (P601H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 2671913	NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)	KCND3 (T600I +1 more)	Single nucleotide variant (missense variant)	Brugada syndrome 9 +1 more	GUncertain significance
Select item 1781381	NM_001378969.1(KCND3):c.1854C>A (p.Pro618=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 533723	NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)	KCND3 (I617V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2747257	NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)	KCND3 (I591T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2893319	NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 1684144	NM_001378969.1(KCND3):c.1799G>C (p.Gly600Ala)	KCND3 (G581A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 192254	NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)	KCND3 (G581R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1780278	NM_001378969.1(KCND3):c.1797C>T (p.Asp599=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2359713	NM_001378969.1(KCND3):c.1795G>A (p.Asp599Asn)	KCND3 (D580N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 586064	NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 655552	NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)	KCND3 (L576W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1352561	NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)	KCND3 (S572C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 586063	NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)	KCND3 (R590H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 2147966	NM_001378969.1(KCND3):c.1767-4C>G	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2154736	NM_001378969.1(KCND3):c.1767-17A>C	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 679490	NM_001378969.1(KCND3):c.1767-72T>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683550	NM_001378969.1(KCND3):c.1766+260T>C	KCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215476	NM_001378969.1(KCND3):c.1766+224dup	KCND3	Duplication (intron variant)	not provided	GLikely benign
Select item 698033	NM_001378969.1(KCND3):c.1766+3G>A	KCND3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2625192	NM_001378969.1(KCND3):c.1762A>G (p.Thr588Ala)	KCND3 (T569A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779508	NM_001378969.1(KCND3):c.1758C>T (p.Leu586=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3224548	NM_001378969.1(KCND3):c.1756C>T (p.Leu586Phe)	KCND3 (L567F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519297	NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)	KCND3 (L586V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 2008586	NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)	KCND3 (S585F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1619325	NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)	KCND3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1779345	NM_001378969.1(KCND3):c.1749G>C (p.Gln583His)	KCND3 (Q583H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1356558	NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly)	KCND3 (E563G +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 2784413	NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 577665	NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)	KCND3 (S581C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1779184	NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1779072	NM_001378969.1(KCND3):c.1736A>C (p.Gln579Pro)	KCND3 (Q579P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447856	NM_001378969.1(KCND3):c.1733T>C (p.Ile578Thr)	KCND3 (I578T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287542	NM_001378969.1(KCND3):c.1732A>G (p.Ile578Val)	KCND3 (I578V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1778850	NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2562842	NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met)	KCND3 (T556M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2123180	NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)	KCND3 (E553V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 465167	NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)	KCND3 (M570T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 3224547	NM_001378969.1(KCND3):c.1703G>C (p.Arg568Pro)	KCND3 (R549P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 533722	NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)	KCND3 (R568H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 1445313	NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)	KCND3 (R549C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 2739800	NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 804954	NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)	KCND3 (R547H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1778229	NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)	KCND3 (R547C +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
Select item 2009665	NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 3224546	NM_001378969.1(KCND3):c.1686G>C (p.Leu562=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1778014	NM_001378969.1(KCND3):c.1686G>A (p.Leu562=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1777954	NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1777822	NM_001378969.1(KCND3):c.1677T>A (p.Asn559Lys)	KCND3 (N540K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447860	NM_001378969.1(KCND3):c.1674C>A (p.Pro558=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2447861	NM_001378969.1(KCND3):c.1673C>G (p.Pro558Arg)	KCND3 (P558R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1467275	NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)	KCND3 (P539S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1777478	NM_001378969.1(KCND3):c.1660A>T (p.Thr554Ser)	KCND3 (T554S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 995132	NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)	KCND3 (R531H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +3 more	GConflicting classifications of pathogenicity
Select item 1411863	NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)	KCND3 (R550C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 264530	NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)	KCND3 (R549H +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GConflicting classifications of pathogenicity
Select item 519470	NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)	KCND3 (R549C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1777051	NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1059490	NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)	KCND3 (T526I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1776632	NM_001378969.1(KCND3):c.1622G>A (p.Gly541Asp)	KCND3 (G522D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1776473	NM_001378969.1(KCND3):c.1615C>A (p.His539Asn)	KCND3 (H539N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 465166	NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)	KCND3 (P534L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 1014492	NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)	KCND3 (P515T +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 1806883	NM_001378969.1(KCND3):c.1588T>A (p.Ser530Thr)	KCND3 (S511T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046230	NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22	GLikely benign
Select item 2506770	NM_001378969.1(KCND3):c.1586C>T (p.Pro529Leu)	KCND3 (P510L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462653	NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)	KCND3 (M506R +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22	GUncertain significance
Select item 519434	NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)	KCND3 (M525V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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