ClinVar for MedGen (Select 1802382) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431704	NM_001367549.1(ATP13A3):c.2009A>G (p.Asp670Gly)	ATP13A3 (D643G +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary hypertension, primary, autosomal recessive	GUncertain significance
Select item 1195993	NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter)	ATP13A3 (E1199* +2 more)	Single nucleotide variant (nonsense +1 more)	Pulmonary arterial hypertension +1 more	GConflicting classifications of pathogenicity
Select item 1195992	NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs)	ATP13A3 (W1000fs +1 more)	Duplication (non-coding transcript variant +1 more)	Pulmonary arterial hypertension	GPathogenic
Select item 1195991	NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys)	ATP13A3 (R716C +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension +1 more	GLikely pathogenic
Select item 1195990	NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs)	ATP13A3 (M823fs +1 more)	Duplication (frameshift variant +1 more)	Pulmonary arterial hypertension +1 more	GPathogenic
Select item 1195989	NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met)	ATP13A3 (V828M +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary arterial hypertension	GLikely pathogenic

ClinVar