"GeneDx"[submitter] AND "DOLK"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 1193200	NC_000009.12:g.128945392G>C	DOLK	Single nucleotide variant	not provided	GLikely benign
Select item 1189617	NC_000009.12:g.128945509dup	DOLK	Duplication	not provided	GLikely benign
Select item 1192843	NC_000009.12:g.128945509del	DOLK	Deletion	not provided	GLikely benign
Select item 1178876	NC_000009.12:g.128945506_128945509del	DOLK	Deletion	not provided	GLikely benign
Select item 836909	NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)	DOLK (I523T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 449845	NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly)	DOLK (D494G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 390557	NM_014908.4(DOLK):c.1467G>T (p.Leu489=)	DOLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 226616	NM_014908.4(DOLK):c.1450A>G (p.Ile484Val)	DOLK (I484V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 365192	NM_014908.4(DOLK):c.1446G>A (p.Ala482=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 226615	NM_014908.4(DOLK):c.1437T>C (p.Ser479=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 681044	NM_014908.4(DOLK):c.1422G>A (p.Glu474=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +2 more	GLikely benign
Select item 227334	NM_014908.4(DOLK):c.1394G>A (p.Arg465His)	DOLK (R465H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1003678	NM_014908.4(DOLK):c.1381A>G (p.Met461Val)	DOLK (M461V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 532847	NM_014908.4(DOLK):c.1333C>A (p.Leu445Met)	DOLK (L445M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1708639	NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)	DOLK (G443S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 227333	NM_014908.4(DOLK):c.1314C>T (p.Leu438=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 227332	NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg)	DOLK (K429R)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 532851	NM_014908.4(DOLK):c.1139G>A (p.Arg380His)	DOLK (R380H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 388259	NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile)	DOLK (F372I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 227331	NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys)	DOLK (Y360C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 464195	NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)	DOLK (R356Q)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 227330	NM_014908.4(DOLK):c.1035A>G (p.Val345=)	DOLK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 763751	NM_014908.4(DOLK):c.1011A>G (p.Arg337=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1208984	NM_014908.4(DOLK):c.964C>T (p.Arg322Trp)	DOLK (R322W)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 450442	NM_014908.4(DOLK):c.931G>T (p.Ala311Ser)	DOLK (A311S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 392258	NM_014908.4(DOLK):c.919C>T (p.Leu307=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3365015	NM_014908.4(DOLK):c.913T>C (p.Ser305Pro)	DOLK (S305P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392257	NM_014908.4(DOLK):c.905C>T (p.Ala302Val)	DOLK (A302V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392015	NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)	DOLK (L300F)	Single nucleotide variant (missense variant)	not provided +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 +2 more	GUncertain significance
Select item 464206	NM_014908.4(DOLK):c.873C>T (p.Leu291=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 570151	NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del)	DOLK (L288del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 959385	NM_014908.4(DOLK):c.839G>A (p.Arg280His)	DOLK (R280H)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 390952	NM_014908.4(DOLK):c.771C>T (p.Ile257=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 451666	NM_014908.4(DOLK):c.710T>C (p.Met237Thr)	DOLK (M237T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 95647	NM_014908.4(DOLK):c.700A>G (p.Met234Val)	DOLK	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 227336	NM_014908.4(DOLK):c.671A>T (p.Asp224Val)	DOLK (D224V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 95646	NM_014908.4(DOLK):c.631C>T (p.Arg211Cys)	DOLK (R211C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 365196	NM_014908.4(DOLK):c.579G>A (p.Glu193=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1310294	NM_014908.4(DOLK):c.537G>C (p.Met179Ile)	DOLK (M179I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384847	NM_014908.4(DOLK):c.525T>G (p.Val175=)	DOLK	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 365197	NM_014908.4(DOLK):c.513T>C (p.Leu171=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1329820	NM_014908.4(DOLK):c.508G>T (p.Val170Phe)	DOLK (V170F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389788	NM_014908.4(DOLK):c.495C>A (p.Ile165=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 572462	NM_014908.4(DOLK):c.429C>G (p.Ile143Met)	DOLK (I143M)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 1094058	NM_014908.4(DOLK):c.380T>C (p.Val127Ala)	DOLK (V127A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 505389	NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)	DOLK (E108G)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 568082	NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)	DOLK (R98W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1795897	NM_014908.4(DOLK):c.277C>G (p.Leu93Val)	DOLK (L93V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 671108	NM_014908.4(DOLK):c.210C>G (p.Val70=)	DOLK	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451562	NM_014908.4(DOLK):c.206C>T (p.Ala69Val)	DOLK (A69V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 95644	NM_014908.4(DOLK):c.186G>A (p.Arg62=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 385448	NM_014908.4(DOLK):c.159C>G (p.Ala53=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +3 more	GLikely benign
Select item 508853	NM_014908.4(DOLK):c.147C>G (p.Leu49=)	DOLK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 392066	NM_014908.4(DOLK):c.130T>C (p.Trp44Arg)	DOLK (W44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426333	NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)	DOLK (A25T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 464201	NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)	DOLK (G18R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1310241	NM_014908.4(DOLK):c.22C>T (p.Pro8Ser)	DOLK (P8S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 167006	NM_014908.4(DOLK):c.1dup (p.Met1fs)	DOLK (M1fs)	Duplication	not specified +3 more	GBenign/Likely benign
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 365207	NM_014908.3(DOLK):c.-404G>A	DOLK, NUP188	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 365209	NM_015354.3(NUP188):c.8C>T (p.Ala3Val)	DOLK, NUP188 (A3V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 369621	NC_000009.12:g.128947738G>A	DOLK, NUP188 (G7R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 676304	NM_014908.3(DOLK):c.-543T>C	DOLK, NUP188	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264437	NC_000009.12:g.128947888G>A	NUP188, DOLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673511	NM_014908.3(DOLK):c.-604T>C	NUP188, DOLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276585	NC_000009.12:g.128948062C>T	DOLK, NUP188	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253999	GRCh37/hg19 9q34.11(chr9:131550680-131775355)x3	LRRC8A, SPOUT1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 72