ClinVar for MedGen (Select 1794180) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2578019	NM_020433.5(JPH2):c.35G>A (p.Gly12Glu)	JPH2 (G12E)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 2500045	NM_020433.5(JPH2):c.379+8350T>A	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 17 +1 more	GUncertain significance
Select item 1776043	NM_020433.5(JPH2):c.1598G>A (p.Arg533His)	JPH2 (R533H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1747780	NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)	JPH2 (P183A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1708047	NM_020433.5(JPH2):c.2070_2071del (p.Phe691fs)	JPH2 (F691fs)	Microsatellite (frameshift variant)	Cardiomyopathy, dilated, 2E	GUncertain significance
Select item 1546813	NM_020433.5(JPH2):c.380-20C>T	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 1502355	NM_020433.5(JPH2):c.515A>G (p.Asn172Ser)	JPH2 (N172S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 1448968	NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)	JPH2 (A181T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1441475	NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)	JPH2 (A620T)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E +3 more	GUncertain significance
Select item 1433376	NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)	JPH2 (P526L)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E +3 more	GUncertain significance
Select item 1429402	NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)	JPH2 (P585S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1407323	NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)	JPH2 (R93C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1406792	NM_020433.5(JPH2):c.77A>G (p.His26Arg)	JPH2 (H26R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1405421	NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)	JPH2 (N321S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1205834	NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)	JPH2 (E641*)	Duplication (nonsense)	Cardiomyopathy, dilated, 2E	GPathogenic
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 1056674	NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)	JPH2 (A277S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 1044339	NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg)	JPH2 (K503R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +2 more	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 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 1009029	NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)	JPH2 (E317K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 1002787	NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)	JPH2 (P578T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 947259	NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter)	JPH2 (Q549*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 940676	NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)	JPH2 (E623Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 939289	NM_020433.5(JPH2):c.655G>T (p.Gly219Cys)	JPH2 (G219C)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E +2 more	GUncertain significance
Select item 939187	NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)	JPH2 (R479L)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2E +3 more	GUncertain significance
Select item 850305	NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)	JPH2 (R655Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 684812	NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)	JPH2 (A659T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 642211	NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)	JPH2 (T646S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +4 more	GUncertain significance
Select item 579578	NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)	JPH2 (E121K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 524960	NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)	JPH2 (R197L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 504867	NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)	JPH2 (E632K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 454470	NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)	JPH2 (N207S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 454469	NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)	JPH2 (P465L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 454466	NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)	JPH2 (V345L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 451220	NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)	JPH2 (T76A)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 450190	NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys)	JPH2 (R572C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 432845	NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)	JPH2 (S100L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 432736	NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)	JPH2 (P431L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 431015	NM_020433.5(JPH2):c.278G>A (p.Arg93His)	JPH2 (R93H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 430124	NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)	JPH2 (K653del)	Microsatellite (inframe_deletion)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 419464	NM_020433.5(JPH2):c.1078A>C (p.Asn360His)	JPH2 (N360H)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 412591	NM_020433.5(JPH2):c.579C>T (p.Pro193=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 392762	NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)	JPH2 (P478L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 380759	NM_020433.5(JPH2):c.1566G>A (p.Arg522=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign/Likely benign
Select item 264361	NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)	JPH2 (P453S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +3 more	GUncertain significance
Select item 264222	NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)	JPH2 (A664T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +2 more	GUncertain significance
Select item 241295	NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)	JPH2 (T290I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 225099	NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)	JPH2 (R231Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 222657	NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)	JPH2 (Q428*)	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, 2E +3 more	GUncertain significance
Select item 201797	NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)	JPH2 (R213W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +5 more	GConflicting classifications of pathogenicity
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 188245	NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)	JPH2 (E402K)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +6 more	GConflicting classifications of pathogenicity
Select item 137607	NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	JPH2 (A396T)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GBenign
Select item 137602	NM_020433.5(JPH2):c.156C>T (p.Tyr52=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign

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Links from MedGen

Items: 57