"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PPA2"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335561	NM_176869.3(PPA2):c.939+2T>C	PPA2	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 620292	NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)	PPA2 (S313* +3 more)	Single nucleotide variant (nonsense)	Sudden cardiac failure, infantile +2 more	GConflicting classifications of pathogenicity
Select item 1315534	NM_176869.3(PPA2):c.371G>A (p.Gly124Glu)	PPA2 (G124E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782247	NM_176869.3(PPA2):c.180T>C (p.Ile60=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 752837	NM_176869.3(PPA2):c.6C>T (p.Ser2=)	LOC129992915, PPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic

ClinVar