"Genome-Nilou Lab"[submitter] AND "DDOST"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 295006	NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)	DDOST, PINK1 +1 more (N521T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign/Likely benign
Select item 295011	NM_032409.3(PINK1):c.*37A>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +4 more	GBenign
Select item 295057	NM_005216.5(DDOST):c.*40A>G	DDOST, PINK1	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1243003	NM_005216.5(DDOST):c.1063+34dup	DDOST	Duplication (intron variant)	Congenital disorder of glycosylation type Ir +1 more	GBenign
Select item 95261	NM_005216.5(DDOST):c.646-16C>T	DDOST	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation type Ir +2 more	GBenign
Select item 295156	NM_005216.5(DDOST):c.315C>T (p.Gly105=)	DDOST, PINK1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign

ClinVar