"Ambry Genetics"[submitter] AND "JPH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1785592	NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)	JPH2 (L695fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 1785488	NM_020433.5(JPH2):c.2078A>T (p.His693Leu)	JPH2 (H693L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2447031	NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)	JPH2 (V692I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1979424	NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)	JPH2 (V692I)	Inversion (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 137611	NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign
Select item 939607	NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr)	JPH2 (A688T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1785137	NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)	JPH2 (G686S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 703376	NM_020433.5(JPH2):c.2055C>T (p.Ile685=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 721434	NM_020433.5(JPH2):c.2052C>T (p.Asn684=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1992135	NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)	JPH2 (T674I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2586441	NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)	JPH2 (P672L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2912962	NM_020433.5(JPH2):c.2013C>G (p.Val671=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1784427	NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)	JPH2 (V671I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287230	NM_020433.5(JPH2):c.2011-5C>G	JPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1784395	NM_020433.5(JPH2):c.2010+5G>C	JPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1587699	NM_020433.5(JPH2):c.1992G>A (p.Ala664=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 848827	NM_020433.5(JPH2):c.1991C>T (p.Ala664Val)	JPH2 (A664V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1783972	NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)	JPH2 (A664S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 264222	NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)	JPH2 (A664T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 264479	NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln)	JPH2 (E663Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451756	NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)	JPH2 (A662S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783833	NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)	JPH2 (A661V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1101665	NM_020433.5(JPH2):c.1977A>G (p.Ala659=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 215902	NM_020433.5(JPH2):c.1974C>T (p.Ala658=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 137610	NM_020433.5(JPH2):c.1971G>A (p.Glu657=)	JPH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 850305	NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)	JPH2 (R655Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2347194	NM_020433.5(JPH2):c.1963C>T (p.Arg655Trp)	JPH2 (R655W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1783443	NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)	JPH2 (A654G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 430124	NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)	JPH2 (K653del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 3287235	NM_020433.5(JPH2):c.1958A>G (p.Lys653Arg)	JPH2 (K653R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1783344	NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)	JPH2 (K653T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2624761	NM_020433.5(JPH2):c.1950C>G (p.Ala650=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586449	NM_020433.5(JPH2):c.1950C>T (p.Ala650=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2586448	NM_020433.5(JPH2):c.1950C>A (p.Ala650=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1037202	NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr)	JPH2 (A650T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 642211	NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)	JPH2 (T646S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1782918	NM_020433.5(JPH2):c.1933C>T (p.Leu645=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518854	NM_020433.5(JPH2):c.1932G>A (p.Gly644=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1782806	NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)	JPH2 (R643P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2451743	NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)	JPH2 (A642T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3020657	NM_020433.5(JPH2):c.1917G>A (p.Lys639=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1315388	NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)	JPH2 (A635P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1782303	NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)	JPH2 (R634G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201804	NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)	JPH2 (E632D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 504867	NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)	JPH2 (E632K)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E +5 more	GUncertain significance
Select item 511790	NM_020433.5(JPH2):c.1890A>G (p.Lys630=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3227383	NM_020433.5(JPH2):c.1869G>A (p.Glu623=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 940676	NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)	JPH2 (E623Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 1157444	NM_020433.5(JPH2):c.1863G>A (p.Lys621=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1781509	NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)	JPH2 (K621E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1441475	NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)	JPH2 (A620T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2451745	NM_020433.5(JPH2):c.1857C>T (p.Pro619=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227382	NM_020433.5(JPH2):c.1855C>G (p.Pro619Ala)	JPH2 (P619A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1781365	NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)	JPH2 (T618N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 432626	NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)	JPH2 (T618A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1590185	NM_020433.5(JPH2):c.1851G>A (p.Glu617=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 191669	NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu)	JPH2 (R616L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1409912	NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys)	JPH2 (R616C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1781221	NM_020433.5(JPH2):c.1845A>C (p.Ala615=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1781214	NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)	JPH2 (A615V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 852340	NM_020433.5(JPH2):c.1838A>G (p.Glu613Gly)	JPH2 (E613G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2586440	NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)	JPH2 (E613K)	Single nucleotide variant (missense variant)	JPH2-related disorder +1 more	GUncertain significance
Select item 1781042	NM_020433.5(JPH2):c.1836C>A (p.Pro612=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1649175	NM_020433.5(JPH2):c.1836C>G (p.Pro612=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2187419	NM_020433.5(JPH2):c.1826T>C (p.Leu609Pro)	JPH2 (L609P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 946483	NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)	JPH2 (T608K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1780625	NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)	JPH2 (Q605E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1100289	NM_020433.5(JPH2):c.1812G>T (p.Leu604=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1780527	NM_020433.5(JPH2):c.1809G>A (p.Pro603=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 518802	NM_020433.5(JPH2):c.1808C>T (p.Pro603Leu)	JPH2 (P603L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1780457	NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)	JPH2 (A602T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227381	NM_020433.5(JPH2):c.1802C>T (p.Thr601Ile)	JPH2 (T601I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 520387	NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly)	JPH2 (A600G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3287239	NM_020433.5(JPH2):c.1797G>C (p.Pro599=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1780266	NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)	JPH2 (P599L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1780264	NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)	JPH2 (P599R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 264143	NM_020433.5(JPH2):c.1794C>A (p.Ser598=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign
Select item 565818	NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp)	JPH2 (S597W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 958239	NM_020433.5(JPH2):c.1787C>T (p.Pro596Leu)	JPH2 (P596L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1395707	NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe)	JPH2 (S594F)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 843101	NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)	JPH2	Duplication (inframe_insertion)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 2451749	NM_020433.5(JPH2):c.1779G>A (p.Glu593=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779814	NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)	JPH2	Duplication (inframe_insertion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 576981	NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly)	JPH2 (E593G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1779879	NM_020433.5(JPH2):c.1776C>T (p.Ser592=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1189529	NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)	JPH2 (G591V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 513623	NM_020433.5(JPH2):c.1771G>A (p.Gly591Arg)	JPH2 (G591R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1779648	NM_020433.5(JPH2):c.1764G>A (p.Glu588=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 1779477	NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)	JPH2 (E586K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1779462	NM_020433.5(JPH2):c.1755C>T (p.Pro585=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779445	NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)	JPH2 (P585L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1429402	NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)	JPH2 (P585S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 180592	NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys)	JPH2 (Q584K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1102993	NM_020433.5(JPH2):c.1740C>A (p.Pro580=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2451746	NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)	JPH2 (P579R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1002787	NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)	JPH2 (P578T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1170858	NM_020433.5(JPH2):c.1731G>A (p.Glu577=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GBenign/Likely benign
Select item 201793	NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)	JPH2 (E577K)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 137609	NM_020433.5(JPH2):c.1728C>G (p.Pro576=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign
Select item 2202757	NM_020433.5(JPH2):c.1726C>T (p.Pro576Ser)	JPH2 (P576S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GConflicting classifications of pathogenicity

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