C3151264[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137611	NM_020433.5(JPH2):c.2073T>C (p.Phe691=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 137609	NM_020433.5(JPH2):c.1728C>G (p.Pro576=)	JPH2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 30458	NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)	JPH2 (G505S)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 17 +4 more	GBenign/Likely benign
Select item 522274	NM_020433.5(JPH2):c.1497C>A (p.Pro499=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 17 +2 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 137608	NM_020433.5(JPH2):c.1289-7C>T	JPH2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 454467	NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)	JPH2 (A405T)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 137607	NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)	JPH2 (A396T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 137606	NM_020433.5(JPH2):c.1179C>T (p.His393=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign
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 518319	NM_020433.5(JPH2):c.810C>A (p.Ala270=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 264069	NM_020433.5(JPH2):c.648G>A (p.Lys216=)	JPH2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 201797	NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)	JPH2 (R213W)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +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 137604	NM_020433.5(JPH2):c.380-6C>T	JPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 137603	NM_020433.5(JPH2):c.380-9C>G	JPH2	Single nucleotide variant (intron variant)	not provided +2 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
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

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Items: 20