"PreventionGenetics, part of Exact Sciences"[submitter] AND "DOLK"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653127	NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)	DOLK (T520A)	Single nucleotide variant (missense variant)	DOLK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 226615	NM_014908.4(DOLK):c.1437T>C (p.Ser479=)	DOLK	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2190627	NM_014908.4(DOLK):c.1170C>T (p.Ser390=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 227331	NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)	DOLK (Y360C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +4 more	GConflicting classifications of pathogenicity
Select item 723746	NM_014908.4(DOLK):c.975C>T (p.Ser325=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 95647	NM_014908.4(DOLK):c.700A>G (p.Met234Val)	DOLK	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 365196	NM_014908.4(DOLK):c.579G>A (p.Glu193=)	DOLK	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1529181	NM_014908.4(DOLK):c.453C>T (p.Ile151=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 772982	NM_014908.4(DOLK):c.435C>T (p.Gly145=)	DOLK	Single nucleotide variant (synonymous variant)	DOLK-related disorder +2 more	GLikely benign
Select item 95644	NM_014908.4(DOLK):c.186G>A (p.Arg62=)	DOLK	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 464201	NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)	DOLK (G18R)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 703300	NM_014908.4(DOLK):c.33G>A (p.Gly11=)	DOLK	Single nucleotide variant (synonymous variant)	DOLK-related disorder +2 more	GLikely benign