ClinVar for Gene (Select 57158) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	GTSF1L, HNF4A +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 3248220	NC_000020.10:g.(?_42743436)_(42747283_?)dup	JPH2	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3248219	NC_000020.10:g.(?_42743436)_(42815345_?)del	JPH2	Deletion	Hypertrophic cardiomyopathy	GUncertain significance
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 3227396	NM_020433.5(JPH2):c.982T>C (p.Cys328Arg)	JPH2 (C328R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3227395	NM_020433.5(JPH2):c.981C>T (p.Gly327=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227394	NM_020433.5(JPH2):c.879C>T (p.Gly293=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227393	NM_020433.5(JPH2):c.854C>G (p.Ala285Gly)	JPH2 (A285G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227392	NM_020433.5(JPH2):c.799G>A (p.Gly267Arg)	JPH2 (G267R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227391	NM_020433.5(JPH2):c.76C>T (p.His26Tyr)	JPH2 (H26Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227390	NM_020433.5(JPH2):c.62del (p.Gly21fs)	JPH2 (G21fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227389	NM_020433.5(JPH2):c.537T>A (p.Ser179=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227388	NM_020433.5(JPH2):c.494C>A (p.Ser165Tyr)	JPH2 (S165Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227387	NM_020433.5(JPH2):c.380-5C>T	JPH2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227386	NM_020433.5(JPH2):c.326C>T (p.Thr109Ile)	JPH2 (T109I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227385	NM_020433.5(JPH2):c.21C>T (p.Asp7=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3227382	NM_020433.5(JPH2):c.1855C>G (p.Pro619Ala)	JPH2 (P619A)	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 3227380	NM_020433.5(JPH2):c.1677G>C (p.Glu559Asp)	JPH2 (E559D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227379	NM_020433.5(JPH2):c.1580C>T (p.Ser527Phe)	JPH2 (S527F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227378	NM_020433.5(JPH2):c.1485G>A (p.Lys495=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227377	NM_020433.5(JPH2):c.1404G>C (p.Glu468Asp)	JPH2 (E468D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227376	NM_020433.5(JPH2):c.1024C>T (p.Arg342Cys)	JPH2 (R342C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3112468	NM_020433.5(JPH2):c.685A>G (p.Lys229Glu)	JPH2 (K229E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3112467	NM_020433.5(JPH2):c.278G>T (p.Arg93Leu)	JPH2 (R93L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3076108	NM_020433.5(JPH2):c.1455G>A (p.Pro485=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 3065017	NM_020433.5(JPH2):c.1039G>A (p.Val347Ile)	JPH2 (V347I)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 3049332	NM_020433.5(JPH2):c.1055G>A (p.Arg352His)	JPH2 (R352H)	Single nucleotide variant (missense variant)	JPH2-related disorder	GUncertain significance
Select item 3048296	NM_020433.5(JPH2):c.379+8370G>A	JPH2	Single nucleotide variant (3 prime UTR variant +1 more)	JPH2-related disorder	GLikely benign
Select item 3032340	NM_020433.5(JPH2):c.379+8362T>C	JPH2	Single nucleotide variant (synonymous variant +1 more)	JPH2-related disorder	GLikely benign
Select item 3032161	NM_020433.5(JPH2):c.379+8369C>T	JPH2	Single nucleotide variant (3 prime UTR variant +1 more)	JPH2-related disorder	GLikely benign
Select item 3032107	NM_020433.5(JPH2):c.1845A>G (p.Ala615=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related disorder	GLikely benign
Select item 3024050	NM_020433.5(JPH2):c.622G>A (p.Ala208Thr)	JPH2 (A208T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3020657	NM_020433.5(JPH2):c.1917G>A (p.Lys639=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related disorder +2 more	GLikely benign
Select item 3020485	NM_020433.5(JPH2):c.817G>T (p.Ala273Ser)	JPH2 (A273S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3018205	NM_020433.5(JPH2):c.590G>A (p.Arg197His)	JPH2 (R197H)	Single nucleotide variant (missense variant)	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 3014926	NM_020433.5(JPH2):c.1712T>C (p.Val571Ala)	JPH2 (V571A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3014681	NM_020433.5(JPH2):c.963C>T (p.Asn321=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3014669	NM_020433.5(JPH2):c.1817C>T (p.Ala606Val)	JPH2 (A606V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3012559	NM_020433.5(JPH2):c.2085G>T (p.Leu695=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 3000209	NM_020433.5(JPH2):c.683G>A (p.Gly228Asp)	JPH2 (G228D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2999478	NM_020433.5(JPH2):c.380-19G>T	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2997524	NM_020433.5(JPH2):c.1311G>T (p.Arg437=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2997047	NM_020433.5(JPH2):c.560del (p.Gly187fs)	JPH2 (G187fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2990016	NM_020433.5(JPH2):c.1342A>G (p.Ser448Gly)	JPH2 (S448G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2985956	NM_020433.5(JPH2):c.738C>G (p.Val246=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2985351	NM_020433.5(JPH2):c.586C>G (p.Pro196Ala)	JPH2 (P196A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2984972	NM_020433.5(JPH2):c.1170-3T>C	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2978629	NM_020433.5(JPH2):c.1516C>G (p.Leu506Val)	JPH2 (L506V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2963983	NM_020433.5(JPH2):c.1170-17C>A	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2959609	NM_020433.5(JPH2):c.1393C>T (p.Pro465Ser)	JPH2 (P465S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2958076	NM_020433.5(JPH2):c.1857C>G (p.Pro619=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2955558	NM_020433.5(JPH2):c.144G>A (p.Val48=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2955165	NM_020433.5(JPH2):c.108C>T (p.Gly36=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2921158	NM_020433.5(JPH2):c.1739C>T (p.Pro580Leu)	JPH2 (P580L)	Single nucleotide variant (missense variant)	not provided	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 2917329	NM_020433.5(JPH2):c.711G>C (p.Thr237=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2917317	NM_020433.5(JPH2):c.1131T>A (p.Ala377=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2914180	NM_020433.5(JPH2):c.409A>T (p.Met137Leu)	JPH2 (M137L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	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 2909077	NM_020433.5(JPH2):c.1188C>G (p.Ala396=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2909064	NM_020433.5(JPH2):c.852C>T (p.Asp284=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2902879	NM_020433.5(JPH2):c.1162G>A (p.Ala388Thr)	JPH2 (A388T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2900174	NM_020433.5(JPH2):c.379+13G>A	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2891997	NM_020433.5(JPH2):c.1169+20G>T	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2885451	NM_020433.5(JPH2):c.874A>C (p.Met292Leu)	JPH2 (M292L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2883959	NM_020433.5(JPH2):c.876G>A (p.Met292Ile)	JPH2 (M292I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2881827	NM_020433.5(JPH2):c.902C>T (p.Ser301Leu)	JPH2 (S301L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2881791	NM_020433.5(JPH2):c.601_602delinsTT (p.Ala201Leu)	JPH2 (A201L)	Indel (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2877226	NM_020433.5(JPH2):c.1173A>G (p.Thr391=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2868633	NM_020433.5(JPH2):c.975_976delinsAC (p.Tyr326His)	JPH2 (Y326H)	Indel (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2868032	NM_020433.5(JPH2):c.300A>C (p.Ser100=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
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 2862988	NM_020433.5(JPH2):c.967C>A (p.Arg323Ser)	JPH2 (R323S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2861877	NM_020433.5(JPH2):c.519C>A (p.Gly173=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2853927	NM_020433.5(JPH2):c.492G>A (p.Ser164=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2843533	NM_020433.5(JPH2):c.296G>C (p.Ser99Thr)	JPH2 (S99T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2833537	NM_020433.5(JPH2):c.498G>A (p.Leu166=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2829413	NM_020433.5(JPH2):c.818C>T (p.Ala273Val)	JPH2 (A273V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2821354	NM_020433.5(JPH2):c.1212C>A (p.Ala404=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2813618	NM_020433.5(JPH2):c.1795C>T (p.Pro599Ser)	JPH2 (P599S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2810904	NM_020433.5(JPH2):c.1288+10G>C	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2795717	NM_020433.5(JPH2):c.774C>T (p.Ser258=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2794946	NM_020433.5(JPH2):c.899G>A (p.Arg300His)	JPH2 (R300H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2779330	NM_020433.5(JPH2):c.1363C>A (p.Arg455=)	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 2764367	NM_020433.5(JPH2):c.380-16C>T	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2759639	NM_020433.5(JPH2):c.211G>T (p.Gly71Trp)	JPH2 (G71W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2758611	NM_020433.5(JPH2):c.1017C>G (p.Gly339=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2756684	NM_020433.5(JPH2):c.306C>A (p.Ser102Arg)	JPH2 (S102R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2752981	NM_020433.5(JPH2):c.1140G>A (p.Ala380=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2747714	NM_020433.5(JPH2):c.793A>G (p.Ser265Gly)	JPH2 (S265G)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2740527	NM_020433.5(JPH2):c.296G>A (p.Ser99Asn)	JPH2 (S99N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2738262	NM_020433.5(JPH2):c.646A>C (p.Lys216Gln)	JPH2 (K216Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2728777	NM_020433.5(JPH2):c.255G>A (p.Glu85=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2724516	NM_020433.5(JPH2):c.108C>A (p.Gly36=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy	GLikely benign
Select item 2721365	NM_020433.5(JPH2):c.1288+13A>G	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy	GLikely benign

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