"Ambry Genetics"[submitter] AND "KCND3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 934368	NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)	KCND3 (A635T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 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 533724	NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)	KCND3 (I642F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Spinocerebellar ataxia type 19/22 +2 more	GConflicting classifications of pathogenicity
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 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)	Cardiovascular phenotype +4 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 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)	Cardiovascular phenotype +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 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 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 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 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 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 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 1619325	NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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 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 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 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 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 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)	not provided +2 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)	Spinocerebellar ataxia type 19/22 +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 519434	NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)	KCND3 (M525V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3224544	NM_001378969.1(KCND3):c.1568G>A (p.Ser523Asn)	KCND3 (S504N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2561524	NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)	KCND3 (E522K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1775269	NM_001378969.1(KCND3):c.1561A>G (p.Met521Val)	KCND3 (M521V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1775253	NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1774888	NM_001378969.1(KCND3):c.1543A>G (p.Met515Val)	KCND3 (M496V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 519397	NM_001378969.1(KCND3):c.1543A>C (p.Met515Leu)	KCND3 (M515L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224543	NM_001378969.1(KCND3):c.1539G>A (p.Glu513=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1774730	NM_001378969.1(KCND3):c.1536T>G (p.Asp512Glu)	KCND3 (D512E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1774728	NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 1382415	NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)	KCND3 (D493A +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 707193	NM_001378969.1(KCND3):c.1524C>T (p.His508=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 386374	NM_001378969.1(KCND3):c.1519-4G>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +2 more	GBenign
Select item 465165	NM_001378969.1(KCND3):c.1519-5C>T	KCND3	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 19/22 +1 more	GConflicting classifications of pathogenicity
Select item 2253372	NM_001378969.1(KCND3):c.1514T>A (p.Ile505Asn)	KCND3 (I505N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3287544	NM_001378969.1(KCND3):c.1512C>T (p.Thr504=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3224542	NM_001378969.1(KCND3):c.1508C>A (p.Ser503Tyr)	KCND3 (S503Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224541	NM_001378969.1(KCND3):c.1506C>T (p.Thr502=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1774084	NM_001378969.1(KCND3):c.1506C>A (p.Thr502=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1774074	NM_001378969.1(KCND3):c.1505C>G (p.Thr502Ser)	KCND3 (T502S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2447850	NM_001378969.1(KCND3):c.1485_1503del (p.Asp495fs)	KCND3 (D495fs)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1774027	NM_001378969.1(KCND3):c.1501C>T (p.Arg501Ter)	KCND3 (R501*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 570216	NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)	KCND3 (S499C)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 19/22 +2 more	GUncertain significance
Select item 1647285	NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1773513	NM_001378969.1(KCND3):c.1479G>T (p.Val493=)	KCND3	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 415286	NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)	KCND3 (T486A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2447858	NM_001378969.1(KCND3):c.1442A>G (p.His481Arg)	KCND3 (H481R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1772599	NM_001378969.1(KCND3):c.1435C>A (p.Leu479Met)	KCND3 (L479M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 804952	NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)	KCND3 (H476R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3224540	NM_001378969.1(KCND3):c.1419G>C (p.Glu473Asp)	KCND3 (E473D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1772163	NM_001378969.1(KCND3):c.1417G>A (p.Glu473Lys)	KCND3 (E473K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 514725	NM_001378969.1(KCND3):c.1416C>T (p.Ile472=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3287545	NM_001378969.1(KCND3):c.1401G>A (p.Lys467=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1510373	NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)	KCND3 (M465V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GUncertain significance
Select item 958292	NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)	KCND3 (E463K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1771213	NM_001378969.1(KCND3):c.1378C>G (p.Pro460Ala)	KCND3 (P460A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1771162	NM_001378969.1(KCND3):c.1376C>A (p.Thr459Asn)	KCND3 (T459N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1771067	NM_001378969.1(KCND3):c.1372-4C>T	KCND3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 519471	NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 432538	NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)	KCND3 (T457M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1530215	NM_001378969.1(KCND3):c.1368G>A (p.Leu456=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3287547	NM_001378969.1(KCND3):c.1366C>A (p.Leu456Met)	KCND3 (L456M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1770930	NM_001378969.1(KCND3):c.1366C>T (p.Leu456=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1639520	NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)	KCND3	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 19/22 +1 more	GLikely benign
Select item 510916	NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)	KCND3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign

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