COLGALT1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1924834	NM_024656.4(COLGALT1):c.114C>T (p.Phe38=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1971756	NM_024656.4(COLGALT1):c.135G>A (p.Pro45=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1972711	NM_024656.4(COLGALT1):c.141G>A (p.Ser47=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975101	NM_024656.4(COLGALT1):c.154C>T (p.Pro52Ser)	COLGALT1 (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874177	NM_024656.4(COLGALT1):c.162G>T (p.Val54=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865892	NM_024656.4(COLGALT1):c.162G>A (p.Val54=)	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 917942	NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro)	COLGALT1 (L58P)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GLikely pathogenic
Select item 2101651	NM_024656.4(COLGALT1):c.217G>T (p.Ala73Ser)	COLGALT1 (A73S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025733	NM_024656.4(COLGALT1):c.223G>T (p.Glu75Ter)	COLGALT1 (E75*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3147876	NM_024656.4(COLGALT1):c.251C>T (p.Thr84Met)	COLGALT1 (T84M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1971678	NM_024656.4(COLGALT1):c.261-14C>G	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 808501	NM_024656.4(COLGALT1):c.273C>T (p.Asp91=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2885857	NM_024656.4(COLGALT1):c.291G>A (p.Thr97=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052443	NM_024656.4(COLGALT1):c.295A>G (p.Thr99Ala)	COLGALT1 (T99A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694907	NM_024656.4(COLGALT1):c.303G>C (p.Leu101=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2363309	NM_024656.4(COLGALT1):c.322G>A (p.Val108Met)	COLGALT1 (V108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2004760	NM_024656.4(COLGALT1):c.327G>A (p.Lys109=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2007702	NM_024656.4(COLGALT1):c.342C>T (p.Ser114=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2202227	NM_024656.4(COLGALT1):c.354G>T (p.Arg118=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147879	NM_024656.4(COLGALT1):c.359C>A (p.Ala120Glu)	COLGALT1 (A120E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147880	NM_024656.4(COLGALT1):c.365A>G (p.Glu122Gly)	COLGALT1 (E122G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2195016	NM_024656.4(COLGALT1):c.366G>A (p.Glu122=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075966	NM_024656.4(COLGALT1):c.371+3G>C	COLGALT1	Single nucleotide variant (intron variant)	not provided	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 2488662	NM_024656.4(COLGALT1):c.379C>T (p.Pro127Ser)	COLGALT1 (P127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2084652	NM_024656.4(COLGALT1):c.380C>T (p.Pro127Leu)	COLGALT1 (P127L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2062801	NM_024656.4(COLGALT1):c.381G>A (p.Pro127=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 3147881	NM_024656.4(COLGALT1):c.391G>T (p.Gly131Cys)	COLGALT1 (G131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2189029	NM_024656.4(COLGALT1):c.416G>A (p.Arg139His)	COLGALT1 (R139H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023054	NM_024656.4(COLGALT1):c.425A>G (p.His142Arg)	COLGALT1 (H142R)	Single nucleotide variant (missense variant)	not provided	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 2405570	NM_024656.4(COLGALT1):c.449C>T (p.Ala150Val)	COLGALT1 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 623638	NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg)	COLGALT1 (L151R)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GPathogenic
Select item 623640	NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro)	COLGALT1 (A154P)	Single nucleotide variant (missense variant)	Brain small vessel disease 3	GPathogenic
Select item 2046588	NM_024656.4(COLGALT1):c.463C>G (p.Arg155Gly)	COLGALT1 (R155G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2046589	NM_024656.4(COLGALT1):c.489+10T>G	COLGALT1	Single nucleotide variant (intron variant)	COLGALT1-related disorder +1 more	GLikely benign
Select item 1971159	NM_024656.4(COLGALT1):c.489+15C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972920	NM_024656.4(COLGALT1):c.489+20G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2100633	NM_024656.4(COLGALT1):c.490-14G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2056713	NM_024656.4(COLGALT1):c.490-5T>G	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2149691	NM_024656.4(COLGALT1):c.501G>A (p.Ala167=)	COLGALT1	Single nucleotide variant (synonymous 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 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 2059245	NM_024656.4(COLGALT1):c.518A>G (p.Asn173Ser)	COLGALT1 (N173S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872042	NM_024656.4(COLGALT1):c.543C>T (p.Ile181=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2906025	NM_024656.4(COLGALT1):c.553_556dup (p.Thr186fs)	COLGALT1 (T186fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1971192	NM_024656.4(COLGALT1):c.558G>A (p.Thr186=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2151576	NM_024656.4(COLGALT1):c.583C>T (p.Arg195Trp)	COLGALT1 (R195W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3147882	NM_024656.4(COLGALT1):c.590C>T (p.Ala197Val)	COLGALT1 (A197V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2072180	NM_024656.4(COLGALT1):c.591G>A (p.Ala197=)	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 2185088	NM_024656.4(COLGALT1):c.625-4A>G	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3147883	NM_024656.4(COLGALT1):c.629A>G (p.Tyr210Cys)	COLGALT1 (Y210C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176069	NM_024656.4(COLGALT1):c.648C>T (p.Ala216=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055241	NM_024656.4(COLGALT1):c.657T>C (p.Pro219=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978427	NM_024656.4(COLGALT1):c.658A>G (p.Ile220Val)	COLGALT1 (I220V)	Single nucleotide variant (missense variant)	not provided	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 2042888	NM_024656.4(COLGALT1):c.677G>A (p.Arg226Gln)	COLGALT1 (R226Q)	Single nucleotide variant (missense variant)	COLGALT1-related disorder +1 more	GBenign/Likely benign
Select item 2077515	NM_024656.4(COLGALT1):c.708G>A (p.Ser236=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2073461	NM_024656.4(COLGALT1):c.728G>A (p.Arg243Gln)	COLGALT1 (R243Q)	Single nucleotide variant (missense variant)	not provided	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 3147885	NM_024656.4(COLGALT1):c.746A>T (p.Asn249Ile)	COLGALT1 (N249I)	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 2182051	NM_024656.4(COLGALT1):c.752C>G (p.Ala251Gly)	COLGALT1 (A251G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147886	NM_024656.4(COLGALT1):c.758A>G (p.Tyr253Cys)	COLGALT1 (Y253C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2051033	NM_024656.4(COLGALT1):c.777C>T (p.Tyr259=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2118515	NM_024656.4(COLGALT1):c.829+5G>A	COLGALT1	Single nucleotide variant (intron 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 2181863	NM_024656.4(COLGALT1):c.845T>A (p.Val282Glu)	COLGALT1 (V282E)	Single nucleotide variant (missense variant)	not provided	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 1013147	NM_024656.4(COLGALT1):c.888C>T (p.Arg296=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2649546	NM_024656.4(COLGALT1):c.915C>T (p.Ala305=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3036299	NM_024656.4(COLGALT1):c.949+3G>A	COLGALT1	Single nucleotide variant (intron variant)	COLGALT1-related disorder	GLikely benign
Select item 1973593	NM_024656.4(COLGALT1):c.949+17A>G	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974961	NM_024656.4(COLGALT1):c.949+19C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971230	NM_024656.4(COLGALT1):c.949+20G>A	COLGALT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1973299	NM_024656.4(COLGALT1):c.950-20_950-19del	COLGALT1	Deletion (intron variant)	not provided	GLikely benign
Select item 1971834	NM_024656.4(COLGALT1):c.950-16C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2260437	NM_024656.4(COLGALT1):c.950-6C>T	COLGALT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1971457	NM_024656.4(COLGALT1):c.953A>C (p.Lys318Thr)	COLGALT1 (K318T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052146	NM_024656.4(COLGALT1):c.961C>T (p.Pro321Ser)	COLGALT1 (P321S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2144874	NM_024656.4(COLGALT1):c.963C>G (p.Pro321=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049079	NM_024656.4(COLGALT1):c.964G>A (p.Ala322Thr)	COLGALT1 (A322T)	Single nucleotide variant (missense variant)	not provided +1 more	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 2040840	NM_024656.4(COLGALT1):c.1020C>T (p.Phe340=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2874750	NM_024656.4(COLGALT1):c.1027-10C>T	COLGALT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1049031	NM_024656.4(COLGALT1):c.1037T>A (p.Ile346Asn)	COLGALT1 (I346N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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