"JPH2-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 518854	NM_020433.5(JPH2):c.1932G>A (p.Gly644=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related condition +1 more	GLikely benign
Select item 3020657	NM_020433.5(JPH2):c.1917G>A (p.Lys639=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 3032107	NM_020433.5(JPH2):c.1845A>G (p.Ala615=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related condition	GLikely benign
Select item 2586440	NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)	JPH2 (E613K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 843101	NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)	JPH2	Duplication (inframe_insertion)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1142571	NM_020433.5(JPH2):c.1770C>T (p.Ser590=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +1 more	GLikely benign
Select item 2432948	NM_020433.5(JPH2):c.1674G>A (p.Pro558=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2633141	NM_020433.5(JPH2):c.1472C>A (p.Pro491His)	JPH2 (P491H)	Single nucleotide variant (missense variant)	JPH2-related condition	GUncertain significance
Select item 201803	NM_020433.5(JPH2):c.1424G>A (p.Arg475His)	JPH2 (R475H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 696099	NM_020433.5(JPH2):c.1395G>A (p.Pro465=)	JPH2	Single nucleotide variant (synonymous variant)	JPH2-related condition +3 more	GLikely benign
Select item 197322	NM_020433.5(JPH2):c.1380G>A (p.Ala460=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 520279	NM_020433.5(JPH2):c.1212C>T (p.Ala404=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 504820	NM_020433.5(JPH2):c.1169+10C>T	JPH2	Single nucleotide variant (intron variant)	JPH2-related condition +3 more	GLikely benign
Select item 1378670	NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu)	JPH2 (R381L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3049332	NM_020433.5(JPH2):c.1055G>A (p.Arg352His)	JPH2 (R352H)	Single nucleotide variant (missense variant)	JPH2-related condition	GUncertain significance
Select item 1010150	NM_020433.5(JPH2):c.833C>G (p.Pro278Arg)	JPH2 (P278R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 520298	NM_020433.5(JPH2):c.783G>C (p.Ala261=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GLikely benign
Select item 2629349	NM_020433.5(JPH2):c.676C>A (p.Leu226Met)	JPH2 (L226M)	Single nucleotide variant (missense variant)	JPH2-related condition	GUncertain significance
Select item 201798	NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)	JPH2 (F221L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +5 more	GConflicting classifications of pathogenicity
Select item 95954	NM_020433.5(JPH2):c.624C>G (p.Ala208=)	JPH2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 220441	NM_020433.5(JPH2):c.562C>T (p.Pro188Ser)	JPH2 (P188S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GBenign/Likely benign
Select item 264268	NM_020433.5(JPH2):c.483G>A (p.Thr161=)	JPH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3048296	NM_020433.5(JPH2):c.379+8370G>A	JPH2	Single nucleotide variant (3 prime UTR variant +1 more)	JPH2-related condition	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 condition	GLikely benign
Select item 3032340	NM_020433.5(JPH2):c.379+8362T>C	JPH2	Single nucleotide variant (synonymous variant +1 more)	JPH2-related condition	GLikely benign
Select item 201792	NM_020433.5(JPH2):c.128A>G (p.Asn43Ser)	JPH2 (N43S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1786053	NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)	JPH2 (G36D)	Single nucleotide variant (missense variant)	JPH2-related condition +1 more	GUncertain significance
Select item 636977	NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)	JPH2 (G3E)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance

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Items: 28