"Illumina Laboratory Services, Illumina"[submitter] AND "DDOST"[gene] - ClinVar

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Items: 31

	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)	not provided +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)	Congenital disorder of glycosylation +3 more	GBenign
Select item 295013	NM_032409.3(PINK1):c.*181C>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign
Select item 295014	NM_032409.3(PINK1):c.*196T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 295015	NM_032409.3(PINK1):c.*265G>T	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 295018	NM_032409.3(PINK1):c.*415C>G	PINK1-AS, DDOST +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 295019	NM_032409.3(PINK1):c.*490A>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 295024	NM_032409.3(PINK1):c.*564T>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 295026	NM_032409.3(PINK1):c.573_576dup	DDOST, PINK1 +1 more	Duplication (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295029	NM_032409.3(PINK1):c.673_675dup	DDOST, PINK1 +1 more	Duplication (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295030	NM_032409.3(PINK1):c.*672T>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation +3 more	GBenign/Likely benign
Select item 295031	NM_032409.3(PINK1):c.*725GA[4]	DDOST, PINK1 +1 more	Microsatellite (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295033	NM_005216.5(DDOST):c.*579dup	PINK1-AS, DDOST	Duplication (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295042	NM_005216.5(DDOST):c.*542TAAA[12]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295040	NM_005216.5(DDOST):c.575_577AAAT[4]A[11]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295039	NM_005216.5(DDOST):c.575_577AAAT[3]A[11]	PINK1-AS, DDOST	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295038	NM_005216.5(DDOST):c.575_577AAAT[4]A[7]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295037	NM_005216.5(DDOST):c.*542TAAA[14]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295036	NM_005216.5(DDOST):c.*542TAAA[13]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295035	NM_005216.5(DDOST):c.*542TAAA[11]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295034	NM_005216.5(DDOST):c.*542TAAA[10]	DDOST, PINK1-AS	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295043	NM_005216.5(DDOST):c.*542TAAA[6]	DDOST, PINK1 +1 more	Microsatellite (3 prime UTR variant +1 more)	Congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 295041	NM_005216.5(DDOST):c.*542TAAA[8]	PINK1-AS, DDOST	Microsatellite (non-coding transcript variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 295047	NM_005216.5(DDOST):c.*462A>G	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Recessive	GLikely benign
Select item 295048	NM_005216.5(DDOST):c.*457A>C	DDOST, PINK1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Parkinson Disease, Recessive	GLikely benign
Select item 295050	NM_005216.5(DDOST):c.375_376dup	DDOST, PINK1 +1 more	Duplication (non-coding transcript variant +1 more)	Parkinson Disease, Recessive +1 more	GLikely benign
Select item 295057	NM_005216.5(DDOST):c.*40A>G	DDOST, PINK1	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation +3 more	GBenign
Select item 295114	NM_005216.5(DDOST):c.831C>T (p.Ala277=)	DDOST, PINK1	Single nucleotide variant (synonymous variant)	DDOST-related condition +4 more	GBenign/Likely benign
Select item 295156	NM_005216.5(DDOST):c.315C>T (p.Gly105=)	PINK1, DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation +3 more	GBenign
Select item 295158	NM_005216.4(DDOST):c.206_211delACCGGG	DDOST	Deletion	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 295165	NM_005216.4(DDOST):c.-63delG	DDOST	Deletion	Congenital disorder of glycosylation	GUncertain significance

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Items: 31