57158[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 1232267	NM_020433.5(JPH2):c.*258G>A	JPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 191667	NM_020433.5(JPH2):c.*15A>T	JPH2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 1183492	NM_020433.5(JPH2):c.*15-115A>C	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240694	NM_020433.5(JPH2):c.*14+269C>T	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206466	NM_020433.5(JPH2):c.*14+259C>T	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246902	NM_020433.5(JPH2):c.*14+173AC[23]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1294150	NM_020433.5(JPH2):c.*14+173AC[21]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1291506	NM_020433.5(JPH2):c.*14+173AC[20]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272509	NM_020433.5(JPH2):c.*14+173AC[19]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1265714	NM_020433.5(JPH2):c.*14+173AC[18]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1233197	NM_020433.5(JPH2):c.*14+173AC[13]	JPH2	Microsatellite (intron variant)	not provided	GBenign
Select item 1211441	NM_020433.5(JPH2):c.*14+175A>G	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231105	NM_020433.5(JPH2):c.*14+173A>G	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195211	NM_020433.5(JPH2):c.*14+169GC[4]	JPH2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1194687	NM_020433.5(JPH2):c.*14+169GC[3]	JPH2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 675764	NM_020433.5(JPH2):c.*14+124C>T	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391991	NM_020433.5(JPH2):c.*14+15C>T	JPH2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 525133	NC_000020.11:g.(?_44114776)_(44186725_?)del	JPH2, LOC108353820 +1 more	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1205558	NM_020433.5(JPH2):c.*3G>A	JPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3012559	NM_020433.5(JPH2):c.2085G>T (p.Leu695=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 2918780	NM_020433.5(JPH2):c.2077C>G (p.His693Asp)	JPH2 (H693D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 1708047	NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs)	JPH2 (F691fs)	Microsatellite (frameshift variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 2032491	NM_020433.5(JPH2):c.2070C>T (p.Leu690=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3067927	NM_020433.5(JPH2):c.2066T>A (p.Ile689Asn)	JPH2 (I689N)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 2418257	NM_020433.5(JPH2):c.2066T>C (p.Ile689Thr)	JPH2 (I689T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
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 942590	NM_020433.5(JPH2):c.2044CTG[1] (p.Leu683del)	JPH2 (L683del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3015728	NM_020433.5(JPH2):c.2035A>G (p.Met679Val)	JPH2 (M679V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1992135	NM_020433.5(JPH2):c.2021C>T (p.Thr674Ile)	JPH2 (T674I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1016819	NM_020433.5(JPH2):c.2018A>G (p.Asn673Ser)	JPH2 (N673S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 389535	NM_020433.5(JPH2):c.2011-15C>T	JPH2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1248427	NM_020433.5(JPH2):c.2011-17C>T	JPH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213038	NM_020433.5(JPH2):c.2011-100C>G	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190042	NM_020433.5(JPH2):c.2010+245G>A	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248071	NM_020433.5(JPH2):c.2010+146G>C	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675350	NM_020433.5(JPH2):c.2010+89G>A	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671360	NM_020433.5(JPH2):c.2010+40C>G	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921969	NM_020433.5(JPH2):c.2010+12G>A	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 508764	NM_020433.5(JPH2):c.2010+11C>T	JPH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1964180	NM_020433.5(JPH2):c.2010+8T>C	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1784395	NM_020433.5(JPH2):c.2010+5G>C	JPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1034663	NM_020433.5(JPH2):c.2006_2010+1dup	JPH2	Duplication (splice donor variant)	Hypertrophic cardiomyopathy 17 +2 more	GUncertain significance
Select item 1284601	NM_020433.5(JPH2):c.1995GGTGGA[3] (p.666VE[3])	JPH2	Microsatellite (inframe_insertion)	not provided	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 524979	NM_020433.5(JPH2):c.1991C>A (p.Ala664Glu)	JPH2 (A664E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 1569508	NM_020433.5(JPH2):c.1989G>A (p.Glu663=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 1014082	NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu)	JPH2 (A661E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	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 684812	NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)	JPH2 (A659T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
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 3255552	NM_020433.5(JPH2):c.1972G>C (p.Ala658Pro)	JPH2 (A658P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 2	Gnot provided
Select item 3233778	NM_020433.5(JPH2):c.1972G>T (p.Ala658Ser)	JPH2 (A658S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 137610	NM_020433.5(JPH2):c.1971G>A (p.Glu657=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign/Likely benign
Select item 403852	NM_020433.5(JPH2):c.1948_1965dup (p.Ala650_Arg655dup)	JPH2	Duplication (inframe_insertion)	Hypertrophic cardiomyopathy	GUncertain significance
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 1004247	NM_020433.5(JPH2):c.1962dup (p.Arg655fs)	JPH2 (R655fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy	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 855988	NM_020433.5(JPH2):c.1961C>T (p.Ala654Val)	JPH2 (A654V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 191668	NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu)	JPH2 (K651E)	Single nucleotide variant (missense variant)	not provided +2 more	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 2175859	NM_020433.5(JPH2):c.1944G>A (p.Ala648=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2771156	NM_020433.5(JPH2):c.1942G>A (p.Ala648Thr)	JPH2 (A648T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 2864543	NM_020433.5(JPH2):c.1936A>G (p.Thr646Ala)	JPH2 (T646A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 571843	NM_020433.5(JPH2):c.1936A>T (p.Thr646Ser)	JPH2 (T646S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	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 1205834	NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)	JPH2 (E641*)	Duplication (nonsense)	Cardiomyopathy, dilated, 2E	GPathogenic
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 1978798	NM_020433.5(JPH2):c.1911C>T (p.Ala637=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 1523126	NM_020433.5(JPH2):c.1906A>G (p.Lys636Glu)	JPH2 (K636E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance

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