"PreventionGenetics, part of Exact Sciences"[submitter] AND "DOK1"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1561127	NM_032603.5(LOXL3):c.684C>T (p.Ala228=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	LOXL3-related disorder +1 more	GLikely benign
Select item 3030719	NM_032603.5(LOXL3):c.658C>T (p.Pro220Ser)	DOK1, LOXL3 (P220S)	Single nucleotide variant (5 prime UTR variant +2 more)	LOXL3-related disorder	GUncertain significance
Select item 1537551	NM_032603.5(LOXL3):c.579T>C (p.Leu193=)	LOXL3, DOK1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1574690	NM_032603.5(LOXL3):c.544C>T (p.Leu182=)	DOK1, LOXL3	Single nucleotide variant (5 prime UTR variant +2 more)	LOXL3-related disorder +1 more	GLikely benign
Select item 1435512	NM_032603.5(LOXL3):c.542C>T (p.Pro181Leu)	LOXL3, DOK1 (P181L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2070591	NM_032603.5(LOXL3):c.527G>A (p.Gly176Glu)	DOK1, LOXL3 (G176E)	Single nucleotide variant (missense variant +1 more)	LOXL3-related disorder +1 more	GLikely benign
Select item 1648890	NM_032603.5(LOXL3):c.405G>A (p.Thr135=)	LOXL3, DOK1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1408489	NM_032603.5(LOXL3):c.314-3C>T	DOK1, LOXL3	Single nucleotide variant (intron variant)	LOXL3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1570943	NM_032603.5(LOXL3):c.129G>A (p.Arg43=)	DOK1, LOXL3	Single nucleotide variant (synonymous variant +1 more)	LOXL3-related disorder +1 more	GLikely benign
Select item 262092	NM_032603.5(LOXL3):c.79C>G (p.Pro27Ala)	LOXL3, DOK1 (P27A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign