"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 372226	NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)	PPA2 (P228L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1284796	NM_176869.3(PPA2):c.558G>A (p.Val186=)	PPA2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 372222	NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	PPA2 (E172K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 773156	NM_176869.3(PPA2):c.513C>T (p.Cys171=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 780932	NM_176869.3(PPA2):c.222+4T>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1284749	NM_176869.3(PPA2):c.9GCTGCTGCG[3] (p.4LLR[3])	PPA2	Microsatellite (inframe_insertion)	not provided	GUncertain significance

ClinVar