"Ambry Genetics"[submitter] AND "DOK2"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3085167	NM_003974.4(DOK2):c.1183G>A (p.Gly395Ser)	DOK2 (G301S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361698	NM_003974.4(DOK2):c.1175C>G (p.Ser392Cys)	DOK2 (S392C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085166	NM_003974.4(DOK2):c.1168G>T (p.Asp390Tyr)	DOK2 (D296Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273449	NM_003974.4(DOK2):c.1115C>T (p.Ala372Val)	DOK2 (A372V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623842	NM_003974.4(DOK2):c.1106G>A (p.Arg369Lys)	DOK2 (R215K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368966	NM_003974.4(DOK2):c.1066C>T (p.Leu356Phe)	DOK2 (L202F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085164	NM_003974.4(DOK2):c.1045G>A (p.Glu349Lys)	DOK2 (E255K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404783	NM_003974.4(DOK2):c.1040A>G (p.Glu347Gly)	DOK2 (E253G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085163	NM_003974.4(DOK2):c.1034A>G (p.Tyr345Cys)	DOK2 (Y191C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085162	NM_003974.4(DOK2):c.1016C>G (p.Pro339Arg)	DOK2 (P245R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382244	NM_003974.4(DOK2):c.967C>G (p.Gln323Glu)	DOK2 (Q169E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085173	NM_003974.4(DOK2):c.909C>G (p.Phe303Leu)	DOK2 (F149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284998	NM_003974.4(DOK2):c.868C>A (p.Pro290Thr)	DOK2 (P290T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085172	NM_003974.4(DOK2):c.836C>T (p.Pro279Leu)	DOK2 (P279L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464017	NM_003974.4(DOK2):c.830C>T (p.Ser277Leu)	DOK2 (S183L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212671	NM_003974.4(DOK2):c.824A>G (p.His275Arg)	DOK2 (H181R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399766	NM_003974.4(DOK2):c.818G>A (p.Arg273Gln)	DOK2 (R119Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325639	NM_003974.4(DOK2):c.817C>T (p.Arg273Trp)	DOK2 (R273W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372897	NM_003974.4(DOK2):c.806G>T (p.Ser269Ile)	DOK2 (S175I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607220	NM_003974.4(DOK2):c.793C>T (p.Pro265Ser)	DOK2 (P111S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599454	NM_003974.4(DOK2):c.788C>T (p.Ser263Leu)	DOK2 (S169L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085170	NM_003974.4(DOK2):c.782C>T (p.Pro261Leu)	DOK2 (P167L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273450	NM_003974.4(DOK2):c.778A>G (p.Ile260Val)	DOK2 (I166V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457422	NM_003974.4(DOK2):c.764C>T (p.Pro255Leu)	DOK2 (P161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316735	NM_003974.4(DOK2):c.710C>T (p.Ala237Val)	DOK2 (A83V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085169	NM_003974.4(DOK2):c.631T>G (p.Phe211Val)	DOK2 (F117V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551653	NM_003974.4(DOK2):c.626T>C (p.Phe209Ser)	DOK2 (F115S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606229	NM_003974.4(DOK2):c.611G>C (p.Arg204Pro)	DOK2 (R110P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370401	NM_003974.4(DOK2):c.503G>A (p.Gly168Glu)	DOK2 (G168E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273451	NM_003974.4(DOK2):c.478G>A (p.Ala160Thr)	DOK2 (A6T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620322	NM_003974.4(DOK2):c.394T>C (p.Cys132Arg)	DOK2 (C38R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568525	NM_003974.4(DOK2):c.388C>T (p.Arg130Trp)	DOK2 (R130W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589481	NM_003974.4(DOK2):c.302A>T (p.Glu101Val)	DOK2 (E101V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085168	NM_003974.4(DOK2):c.196C>G (p.Leu66Val)	DOK2 (L66V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273448	NM_003974.4(DOK2):c.194G>C (p.Cys65Ser)	DOK2 (C65S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363127	NM_003974.4(DOK2):c.188G>C (p.Ser63Thr)	DOK2 (S63T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265786	NM_003974.4(DOK2):c.169C>T (p.Arg57Trp)	DOK2 (R57W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3085165	NM_003974.4(DOK2):c.109G>A (p.Ala37Thr)	DOK2 (A37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308344	NM_003974.4(DOK2):c.109G>T (p.Ala37Ser)	DOK2 (A37S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273447	NM_003974.4(DOK2):c.89T>A (p.Leu30Gln)	DOK2 (L30Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404784	NM_003974.4(DOK2):c.77T>G (p.Phe26Cys)	DOK2 (F26C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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Items: 41