ClinVar for MedGen (Select 332072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019260	NM_014908.4(DOLK):c.1482C>T (p.Asp494=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2999843	NM_014908.4(DOLK):c.1342G>C (p.Gly448Arg)	DOLK (G448R)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GPathogenic
Select item 2981131	NM_014908.4(DOLK):c.1065C>T (p.Asp355=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2911444	NM_014908.4(DOLK):c.1278C>T (p.Cys426=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2897339	NM_014908.4(DOLK):c.597T>A (p.Gly199=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2891523	NM_014908.4(DOLK):c.543G>T (p.Leu181=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2878776	NM_014908.4(DOLK):c.207C>G (p.Ala69=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2849036	NM_014908.4(DOLK):c.1224C>T (p.His408=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2791866	NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)	DOLK (D451G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2783748	NM_014908.4(DOLK):c.1116C>T (p.Phe372=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2725854	NM_014908.4(DOLK):c.975C>G (p.Ser325=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2581223	NM_014908.4(DOLK):c.966G>C (p.Arg322=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2500022	NM_014908.4(DOLK):c.964C>G (p.Arg322Gly)	DOLK (R322G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2441018	NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)	DOLK (S502T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2441017	NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)	DOLK (V369I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2421956	NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)	DOLK (S509A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2268109	NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)	DOLK (P222S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2198561	NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)	DOLK (G67E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2194789	NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)	DOLK (R297C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2194441	NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)	DOLK (T347A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2194369	NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)	DOLK (T37P)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2193852	NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)	DOLK (I343T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2193502	NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)	DOLK	Single nucleotide variant (stop lost)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2193027	NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)	DOLK (S19L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2191937	NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)	DOLK (D524V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2190627	NM_014908.4(DOLK):c.1170C>T (p.Ser390=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2184931	NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)	DOLK (D40N)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2176725	NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)	DOLK (V361A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2172008	NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)	DOLK (S324F)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2169848	NM_014908.4(DOLK):c.113T>C (p.Val38Ala)	DOLK (V38A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2161029	NM_014908.4(DOLK):c.1332C>T (p.Val444=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2160011	NM_014908.4(DOLK):c.1395C>G (p.Arg465=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2157582	NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)	DOLK (R399G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2155082	NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)	DOLK (S486T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2147333	NM_014908.4(DOLK):c.540C>A (p.Ile180=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2145876	NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)	DOLK (N525S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2143183	NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)	DOLK (A368V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2143112	NM_014908.4(DOLK):c.890G>A (p.Arg297His)	DOLK (R297H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2135340	NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)	DOLK (E398G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2131518	NM_014908.4(DOLK):c.1089C>A (p.Ala363=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2126265	NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)	DOLK (S455T)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2125475	NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)	DOLK (L261I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2116976	NM_014908.4(DOLK):c.1596C>G (p.Leu532=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2114794	NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)	DOLK (G149D)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2112135	NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)	DOLK (L159F)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2109954	NM_014908.4(DOLK):c.864T>C (p.Leu288=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2108480	NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)	DOLK (P105S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2107369	NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)	DOLK (G111D)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2105457	NM_014908.4(DOLK):c.1563A>G (p.Thr521=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2102231	NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)	DOLK (I349L)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2100774	NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)	DOLK (L198fs)	Duplication (frameshift variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2097964	NM_014908.4(DOLK):c.941T>C (p.Val314Ala)	DOLK (V314A)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2095562	NM_014908.4(DOLK):c.61C>T (p.Leu21=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2093777	NM_014908.4(DOLK):c.738C>T (p.Val246=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2091584	NM_014908.4(DOLK):c.15C>T (p.Cys5=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2091076	NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)	DOLK (I419fs)	Deletion (frameshift variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2090707	NM_014908.4(DOLK):c.1407C>T (p.Thr469=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2088712	NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)	DOLK (N319S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2084676	NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)	DOLK (G145C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2083408	NM_014908.4(DOLK):c.1071A>G (p.Pro357=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2076295	NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)	DOLK (L64P)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2073843	NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)	DOLK (R465C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2072886	NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)	DOLK (R187C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2069136	NM_014908.4(DOLK):c.141G>A (p.Val47=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2069024	NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)	DOLK (A435fs)	Deletion (frameshift variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2041743	NM_014908.4(DOLK):c.1603T>C (p.Leu535=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 2024846	NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)	DOLK (S33I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2022464	NM_014908.4(DOLK):c.96G>A (p.Leu32=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2017496	NM_014908.4(DOLK):c.1282del (p.Gln428fs)	DOLK (Q428fs)	Deletion (frameshift variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2015854	NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)	DOLK (F110L)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2009788	NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)	DOLK (L536V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 2009715	NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)	DOLK (G450S)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1992450	NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)	DOLK (T476I)	Indel (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1990979	NM_014908.4(DOLK):c.1140C>T (p.Arg380=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1970613	NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)	DOLK (I534V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1968412	NM_014908.4(DOLK):c.516G>A (p.Leu172=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1967230	NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)	DOLK (L526F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1967076	NM_014908.4(DOLK):c.834C>A (p.Leu278=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1965862	NM_014908.4(DOLK):c.261C>T (p.Val87=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1952699	NM_014908.4(DOLK):c.1536T>G (p.Thr512=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation	GLikely benign
Select item 1941318	NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)	DOLK	Deletion (inframe_deletion)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1937934	NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)	DOLK	Duplication (inframe_insertion)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1927951	NM_014908.4(DOLK):c.26C>T (p.Ala9Val)	DOLK (A9V)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1923722	NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)	DOLK (A102G)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1910987	NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)	DOLK (S267I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1906003	NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)	DOLK (L123F)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1903397	NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)	DOLK (R322Q)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1899998	NM_014908.4(DOLK):c.702G>A (p.Met234Ile)	DOLK (M234I)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	GUncertain significance
Select item 1899255	NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)	DOLK (R134C)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	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 +1 more	GUncertain significance
Select item 1795029	NM_014908.4(DOLK):c.1110C>T (p.Phe370=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1781879	NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)	DOLK (R356W)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1769892	NM_014908.4(DOLK):c.1320C>G (p.Pro440=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1758929	NM_014908.4(DOLK):c.743T>C (p.Met248Thr)	DOLK (M248T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1758361	NM_014908.4(DOLK):c.732G>A (p.Leu244=)	DOLK	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1750973	NM_014908.4(DOLK):c.59T>G (p.Val20Gly)	DOLK (V20G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747903	NM_014908.4(DOLK):c.549C>T (p.Tyr183=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1736097	NM_014908.4(DOLK):c.390C>T (p.Leu130=)	DOLK	Single nucleotide variant (synonymous variant)	DK1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1715823	NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)	DOLK (F174L)	Single nucleotide variant (missense variant)	DK1-congenital disorder of glycosylation	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

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