"GeneDx"[submitter] AND "JPH2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1232267	NM_020433.5(JPH2):c.*258G>A	JPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 1205558	NM_020433.5(JPH2):c.*3G>A	JPH2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 137611	NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign
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 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 508764	NM_020433.5(JPH2):c.2010+11C>T	JPH2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely 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 430124	NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)	JPH2 (K653del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +4 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 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 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 3369211	NM_020433.5(JPH2):c.1886C>G (p.Pro629Arg)	JPH2 (P629R)	Single nucleotide variant (missense variant)	not provided	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 1304175	NM_020433.5(JPH2):c.1851G>C (p.Glu617Asp)	JPH2 (E617D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1382144	NM_020433.5(JPH2):c.1814A>G (p.Gln605Arg)	JPH2 (Q605R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +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 3363733	NM_020433.5(JPH2):c.1793C>T (p.Ser598Phe)	JPH2 (S598F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370061	NM_020433.5(JPH2):c.1784C>T (p.Ala595Val)	JPH2 (A595V)	Single nucleotide variant (missense variant)	not provided	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 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 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 1198756	NM_020433.5(JPH2):c.1739C>A (p.Pro580His)	JPH2 (P580H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 452998	NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu)	JPH2 (P575L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389143	NM_020433.5(JPH2):c.1722G>A (p.Thr574=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1314457	NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)	JPH2 (T574A)	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 215527	NM_020433.5(JPH2):c.1704C>T (p.Ser568=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GBenign/Likely benign
Select item 2077362	NM_020433.5(JPH2):c.1699C>T (p.His567Tyr)	JPH2 (H567Y)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 390343	NM_020433.5(JPH2):c.1689C>T (p.Tyr563=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 381976	NM_020433.5(JPH2):c.1662G>A (p.Pro554=)	JPH2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 403849	NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)	JPH2 (A553V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 228752	NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)	JPH2 (P552L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 390507	NM_020433.5(JPH2):c.1635C>T (p.Ile545=)	JPH2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1776624	NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)	JPH2 (E541G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372517	NM_020433.5(JPH2):c.1616C>A (p.Ala539Asp)	JPH2 (A539D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201802	NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys)	JPH2 (E528K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516120	NM_020433.5(JPH2):c.1581C>G (p.Ser527=)	JPH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1433376	NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)	JPH2 (P526L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 380759	NM_020433.5(JPH2):c.1566G>A (p.Arg522=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +5 more	GBenign/Likely benign
Select item 524954	NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)	JPH2 (R522Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 392161	NM_020433.5(JPH2):c.1562G>A (p.Ser521Asn)	JPH2 (S521N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30458	NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	JPH2 (G505S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 1495321	NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)	JPH2 (R496Q)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 389653	NM_020433.5(JPH2):c.1476G>T (p.Pro492=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 426497	NM_020433.5(JPH2):c.1454C>T (p.Pro485Leu)	JPH2 (P485L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939187	NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)	JPH2 (R479L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 392762	NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)	JPH2 (P478L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 391522	NM_020433.5(JPH2):c.1431C>T (p.Thr477=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 201803	NM_020433.5(JPH2):c.1424G>A (p.Arg475His)	JPH2 (R475H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 453208	NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)	JPH2 (E474K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1315339	NM_020433.5(JPH2):c.1414_1415delinsGG (p.Leu472Gly)	JPH2 (L472G)	Indel (missense variant)	not provided	GUncertain significance
Select item 507712	NM_020433.5(JPH2):c.1410G>A (p.Pro470=)	JPH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 381105	NM_020433.5(JPH2):c.1410G>T (p.Pro470=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 197322	NM_020433.5(JPH2):c.1380G>A (p.Ala460=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 3370047	NM_020433.5(JPH2):c.1322A>G (p.Glu441Gly)	JPH2 (E441G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 454468	NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys)	JPH2 (R436C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 432736	NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)	JPH2 (P431L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 137608	NM_020433.5(JPH2):c.1289-7C>T	JPH2	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 17 +3 more	GBenign
Select item 1208119	NM_020433.5(JPH2):c.1289-34G>T	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197746	NM_020433.5(JPH2):c.1289-36G>C	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671114	NM_020433.5(JPH2):c.1289-89A>C	JPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683547	NM_020433.5(JPH2):c.1289-324A>T	JPH2, LOC121853007	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203571	NM_020433.5(JPH2):c.1288+52C>T	JPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307693	NM_020433.5(JPH2):c.1275C>A (p.Asp425Glu)	JPH2 (D425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 954139	NM_020433.5(JPH2):c.1271C>T (p.Pro424Leu)	JPH2 (P424L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 201801	NM_020433.5(JPH2):c.1246C>T (p.Arg416Cys)	JPH2 (R416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207016	NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)	JPH2 (I414V)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 520292	NM_020433.5(JPH2):c.1233G>A (p.Glu411=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 372724	NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)	JPH2 (A405S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 188245	NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)	JPH2 (E402K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity

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