ClinVar for Gene (Select 79709) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067333	NM_024656.4(COLGALT1):c.1579G>A (p.Val527Ile)	COLGALT1 (V527I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 3057637	NM_024656.4(COLGALT1):c.1602-5C>G	COLGALT1	Single nucleotide variant (intron variant)	COLGALT1-related condition	GLikely benign
Select item 3054652	NM_024656.4(COLGALT1):c.1062G>C (p.Arg354=)	COLGALT1	Single nucleotide variant (synonymous variant)	COLGALT1-related condition	GLikely benign
Select item 3045665	NM_024656.4(COLGALT1):c.*2G>T	COLGALT1	Single nucleotide variant (3 prime UTR variant)	COLGALT1-related condition	GLikely benign
Select item 3036299	NM_024656.4(COLGALT1):c.949+3G>A	COLGALT1	Single nucleotide variant (intron variant)	COLGALT1-related condition	GLikely benign
Select item 3031171	NM_024656.4(COLGALT1):c.96G>A (p.Pro32=)	COLGALT1, LOC130063952	Single nucleotide variant (synonymous variant)	COLGALT1-related condition	GLikely benign
Select item 3030279	NM_024656.4(COLGALT1):c.1122C>G (p.Ala374=)	COLGALT1	Single nucleotide variant (synonymous variant)	COLGALT1-related condition	GLikely benign
Select item 3025733	NM_024656.4(COLGALT1):c.223G>T (p.Glu75Ter)	COLGALT1 (E75*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2906025	NM_024656.4(COLGALT1):c.553_556dup (p.Thr186fs)	COLGALT1 (T186fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2892983	NM_024656.4(COLGALT1):c.1572C>T (p.Phe524=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886159	NM_024656.4(COLGALT1):c.1395-6C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885857	NM_024656.4(COLGALT1):c.291G>A (p.Thr97=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874750	NM_024656.4(COLGALT1):c.1027-10C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874177	NM_024656.4(COLGALT1):c.162G>T (p.Val54=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872042	NM_024656.4(COLGALT1):c.543C>T (p.Ile181=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871610	NM_024656.4(COLGALT1):c.1134-17CTC[3]	COLGALT1	Microsatellite (intron variant)	COLGALT1-related condition +1 more	GLikely benign
Select item 2870153	NM_024656.4(COLGALT1):c.1167G>T (p.Gly389=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869729	NM_024656.4(COLGALT1):c.625-15G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869640	NM_024656.4(COLGALT1):c.1266+12G>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869362	NM_024656.4(COLGALT1):c.1203C>T (p.His401=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868904	NM_024656.4(COLGALT1):c.1267-18C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2868795	NM_024656.4(COLGALT1):c.1266+5G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2865892	NM_024656.4(COLGALT1):c.162G>A (p.Val54=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814835	NM_024656.4(COLGALT1):c.1134-6C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802940	NM_024656.4(COLGALT1):c.1311C>T (p.Asp437=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2749974	NM_024656.4(COLGALT1):c.72G>C (p.Ala24=)	COLGALT1, LOC130063952	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716135	NM_024656.4(COLGALT1):c.1394+9G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712056	NM_024656.4(COLGALT1):c.506A>G (p.Asn169Ser)	COLGALT1 (N169S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2701370	NM_024656.4(COLGALT1):c.1394+8G>A	COLGALT1	Single nucleotide variant (intron variant)	COLGALT1-related condition +1 more	GLikely benign
Select item 2688853	NM_024656.4(COLGALT1):c.513C>G (p.Ile171Met)	COLGALT1 (I171M)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GUncertain significance
Select item 2685630	GRCh37/hg19 19p13.11(chr19:17658932-17883270)x1	COLGALT1, FCHO1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 2672750	NM_024656.4(COLGALT1):c.415C>T (p.Arg139Cys)	COLGALT1 (R139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649546	NM_024656.4(COLGALT1):c.915C>T (p.Ala305=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649545	NM_024656.4(COLGALT1):c.168C>T (p.Ile56=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637504	NC_000019.9:g.(17679523_17683291)_(17693967_?)del	COLGALT1	Deletion	not specified	GUncertain significance
Select item 2610159	NM_024656.4(COLGALT1):c.1835C>T (p.Ser612Phe)	COLGALT1 (S612F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604651	NM_024656.4(COLGALT1):c.1621T>C (p.Phe541Leu)	COLGALT1 (F541L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592481	NM_024656.4(COLGALT1):c.1148G>A (p.Ser383Asn)	COLGALT1 (S383N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554403	NM_024656.4(COLGALT1):c.1108C>T (p.Arg370Trp)	COLGALT1 (R370W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553083	NM_024656.4(COLGALT1):c.446C>A (p.Ala149Glu)	COLGALT1 (A149E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549342	NM_024656.4(COLGALT1):c.1602-3C>T	COLGALT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2534824	NM_024656.4(COLGALT1):c.132C>G (p.Ser44Arg)	COLGALT1 (S44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533702	NM_024656.4(COLGALT1):c.1825G>A (p.Val609Met)	COLGALT1 (V609M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531694	NM_024656.4(COLGALT1):c.1765G>A (p.Ala589Thr)	COLGALT1 (A589T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530480	NM_024656.4(COLGALT1):c.544G>A (p.Ala182Thr)	COLGALT1 (A182T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488662	NM_024656.4(COLGALT1):c.379C>T (p.Pro127Ser)	COLGALT1 (P127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476082	NM_024656.4(COLGALT1):c.338A>G (p.His113Arg)	COLGALT1 (H113R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457271	NM_024656.4(COLGALT1):c.1523A>G (p.Lys508Arg)	COLGALT1 (K508R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440504	NM_024656.4(COLGALT1):c.385G>A (p.Glu129Lys)	COLGALT1 (E129K)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GUncertain significance
Select item 2440503	NM_024656.4(COLGALT1):c.1355T>C (p.Met452Thr)	COLGALT1 (M452T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2426856	NC_000019.9:g.(?_17666523)_(17679542_?)dup	COLGALT1	Duplication	not provided	GUncertain significance
Select item 2426855	NC_000019.9:g.(?_17666523)_(17671294_?)dup	COLGALT1	Duplication	not provided	GUncertain significance
Select item 2416798	NM_024656.4(COLGALT1):c.1095G>A (p.Gln365=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407773	NM_024656.4(COLGALT1):c.13C>T (p.Pro5Ser)	COLGALT1 (P5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405570	NM_024656.4(COLGALT1):c.449C>T (p.Ala150Val)	COLGALT1 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404020	NM_024656.4(COLGALT1):c.565G>A (p.Ala189Thr)	COLGALT1 (A189T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382114	NM_024656.4(COLGALT1):c.269C>T (p.Thr90Met)	COLGALT1 (T90M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381025	NM_024656.4(COLGALT1):c.304C>T (p.Arg102Trp)	COLGALT1 (R102W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380026	NM_024656.4(COLGALT1):c.1856G>A (p.Arg619Gln)	COLGALT1 (R619Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2368938	NM_024656.4(COLGALT1):c.290C>T (p.Thr97Met)	COLGALT1 (T97M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363309	NM_024656.4(COLGALT1):c.322G>A (p.Val108Met)	COLGALT1 (V108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334589	NM_024656.4(COLGALT1):c.793G>A (p.Asp265Asn)	COLGALT1 (D265N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334408	NM_024656.4(COLGALT1):c.751G>T (p.Ala251Ser)	COLGALT1 (A251S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315288	NM_024656.4(COLGALT1):c.736G>A (p.Ala246Thr)	COLGALT1 (A246T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309875	NM_024656.4(COLGALT1):c.1420G>T (p.Val474Leu)	COLGALT1 (V474L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299128	NM_024656.4(COLGALT1):c.372-6C>T	COLGALT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2297647	NM_024656.4(COLGALT1):c.1405C>T (p.Arg469Trp)	COLGALT1 (R469W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277683	NM_024656.4(COLGALT1):c.889G>A (p.Ala297Thr)	COLGALT1 (A297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271023	NM_024656.4(COLGALT1):c.1201C>T (p.His401Tyr)	COLGALT1 (H401Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262838	NM_024656.4(COLGALT1):c.988G>A (p.Ala330Thr)	COLGALT1 (A330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262340	NM_024656.4(COLGALT1):c.673C>T (p.Arg225Cys)	COLGALT1 (R225C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262055	NM_024656.4(COLGALT1):c.1049G>A (p.Arg350Gln)	COLGALT1 (R350Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260437	NM_024656.4(COLGALT1):c.950-6C>T	COLGALT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2243995	NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)	COLGALT1, LOC130063952 (R9fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2210429	NM_024656.4(COLGALT1):c.1357C>T (p.Arg453Trp)	COLGALT1 (R453W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202227	NM_024656.4(COLGALT1):c.354G>T (p.Arg118=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195016	NM_024656.4(COLGALT1):c.366G>A (p.Glu122=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192095	NM_024656.4(COLGALT1):c.1728A>G (p.Val576=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189029	NM_024656.4(COLGALT1):c.416G>A (p.Arg139His)	COLGALT1 (R139H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185088	NM_024656.4(COLGALT1):c.625-4A>G	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2184165	NM_024656.4(COLGALT1):c.1078C>T (p.Arg360Trp)	COLGALT1 (R360W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183632	NM_024656.4(COLGALT1):c.1512A>G (p.Gln504=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182051	NM_024656.4(COLGALT1):c.752C>G (p.Ala251Gly)	COLGALT1 (A251G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2181863	NM_024656.4(COLGALT1):c.845T>A (p.Val282Glu)	COLGALT1 (V282E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176217	NM_024656.4(COLGALT1):c.1366G>A (p.Glu456Lys)	COLGALT1 (E456K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170152	NM_024656.4(COLGALT1):c.1238T>G (p.Phe413Cys)	COLGALT1 (F413C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2167593	NM_024656.4(COLGALT1):c.886C>T (p.Arg296Cys)	COLGALT1 (R296C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164564	NM_024656.4(COLGALT1):c.1679A>G (p.His560Arg)	COLGALT1 (H560R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2160194	NM_024656.4(COLGALT1):c.1525C>G (p.Leu509Val)	COLGALT1 (L509V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151576	NM_024656.4(COLGALT1):c.583C>T (p.Arg195Trp)	COLGALT1 (R195W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2149691	NM_024656.4(COLGALT1):c.501G>A (p.Ala167=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2144874	NM_024656.4(COLGALT1):c.963C>G (p.Pro321=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133561	NM_024656.4(COLGALT1):c.1161G>T (p.Ala387=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128193	NM_024656.4(COLGALT1):c.1267-7C>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2119523	NM_024656.4(COLGALT1):c.1326_1327delinsGA (p.Ile442_Phe443delinsMetIle)	COLGALT1	Indel (missense variant)	not provided	GUncertain significance
Select item 2118515	NM_024656.4(COLGALT1):c.829+5G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2116126	NM_024656.4(COLGALT1):c.1760A>G (p.Asp587Gly)	COLGALT1 (D587G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115277	NM_024656.4(COLGALT1):c.830-4G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2114953	NM_024656.4(COLGALT1):c.31C>G (p.Arg11Gly)	COLGALT1, LOC130063952 (R11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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