C1835849[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1440881	NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)	DOLK (L532F)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
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 1026749	NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)	DOLK (M477I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1050954	NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)	DOLK (G475V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1494676	NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)	DOLK (L445fs)	Duplication (frameshift variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 464196	NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)	DOLK (A442T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1007345	NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)	DOLK (V439I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 644343	NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)	DOLK (L421P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 575078	NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)	DOLK (I419M)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1063967	NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)	DOLK (S401fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1044644	NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)	DOLK (S393F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 365193	NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)	DOLK (R389Q)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 365194	NM_014908.4(DOLK):c.1130G>A (p.Arg377His)	DOLK (R377H)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 933503	NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)	DOLK (A336T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 656997	NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)	DOLK (S305C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1009474	NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)	DOLK (Y303C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 392015	NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)	DOLK (L300F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1011976	NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)	DOLK (F292L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 228619	NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)	DOLK (S242N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 834813	NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)	DOLK (F240S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 451666	NM_014908.4(DOLK):c.710T>C (p.Met237Thr)	DOLK (M237T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 857060	NM_014908.4(DOLK):c.702G>C (p.Met234Ile)	DOLK (M234I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1058442	NM_014908.4(DOLK):c.589G>A (p.Val197Ile)	DOLK (V197I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1374384	NM_014908.4(DOLK):c.581C>T (p.Ala194Val)	DOLK (A194V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 532845	NM_014908.4(DOLK):c.572C>A (p.Pro191His)	DOLK (P191H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 954280	NM_014908.4(DOLK):c.509T>G (p.Val170Gly)	DOLK (V170G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 504837	NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)	DOLK (G145A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 464199	NM_014908.4(DOLK):c.344C>T (p.Ala115Val)	DOLK (A115V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1319776	NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)	DOLK (R109G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 505389	NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)	DOLK (E108G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +3 more	GUncertain significance
Select item 568082	NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)	DOLK (R98W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 464201	NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)	DOLK (G18R)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +3 more	GLikely benign
Select item 838748	NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)	DOLK (R3Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 912635	NM_014908.4(DOLK):c.-22G>A	DOLK	Single nucleotide variant (5 prime UTR variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 365199	NM_014908.4(DOLK):c.-49A>G	DOLK	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign/Likely benign
Select item 365202	NM_014908.4(DOLK):c.-194G>T	DOLK	Single nucleotide variant (5 prime UTR variant)	DK1-congenital disorder of glycosylation	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36