"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "JUP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870079	NM_002230.4(JUP):c.1976A>G (p.Asp659Gly)	JUP (D659G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 1438992	NM_002230.4(JUP):c.1631C>T (p.Ala544Val)	JUP (A544V)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 1057877	NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)	JUP (L497R)	Single nucleotide variant (missense variant)	Naxos disease +3 more	GUncertain significance
Select item 201833	NM_002230.4(JUP):c.958C>T (p.Arg320Cys)	JUP (R320C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 178042	NM_002230.4(JUP):c.926A>G (p.Asn309Ser)	JUP (N309S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GConflicting classifications of pathogenicity
Select item 264367	NM_002230.4(JUP):c.521C>T (p.Ala174Val)	JUP (A174V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GUncertain significance
Select item 1423417	NM_002230.4(JUP):c.365T>C (p.Leu122Pro)	JUP (L122P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar