"Phosphorus, Inc."[submitter] AND "JUP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872721	NM_002230.4(JUP):c.1506C>T (p.Ile502=)	JUP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 137612	NM_002230.4(JUP):c.1281G>A (p.Thr427=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +3 more	GBenign/Likely benign
Select item 1339287	NM_002230.4(JUP):c.745A>C (p.Thr249Pro)	JUP (T249P)	Single nucleotide variant (missense variant)	Naxos disease +2 more	GUncertain significance
Select item 178043	NM_002230.4(JUP):c.633C>T (p.Asn211=)	JUP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 12 +4 more	GBenign/Likely benign
Select item 45854	NM_002230.4(JUP):c.567C>T (p.Val189=)	JUP	Single nucleotide variant (synonymous variant)	Naxos disease +4 more	GBenign/Likely benign
Select item 45851	NM_002230.4(JUP):c.425G>A (p.Arg142His)	JUP (R142H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign

ClinVar