26182[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 3257394	NM_024656.4(COLGALT1):c.-3G>A	COLGALT1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 2243995	NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)	COLGALT1, LOC130063952 (R9fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1993296	NM_024656.4(COLGALT1):c.20C>G (p.Ala7Gly)	COLGALT1, LOC130063952 (A7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114953	NM_024656.4(COLGALT1):c.31C>G (p.Arg11Gly)	COLGALT1, LOC130063952 (R11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147878	NM_024656.4(COLGALT1):c.34G>C (p.Gly12Arg)	COLGALT1, LOC130063952 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973108	NM_024656.4(COLGALT1):c.40C>T (p.Pro14Ser)	COLGALT1, LOC130063952 (P14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147884	NM_024656.4(COLGALT1):c.65T>C (p.Leu22Pro)	COLGALT1, LOC130063952 (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2107765	NM_024656.4(COLGALT1):c.86G>T (p.Gly29Val)	COLGALT1, LOC130063952 (G29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031171	NM_024656.4(COLGALT1):c.96G>A (p.Pro32=)	COLGALT1, LOC130063952	Single nucleotide variant (synonymous variant)	COLGALT1-related disorder	GLikely benign
Select item 1971578	NM_024656.4(COLGALT1):c.98G>T (p.Gly33Val)	COLGALT1, LOC130063952 (G33V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3268898	NM_024656.4(COLGALT1):c.110A>C (p.Tyr37Ser)	COLGALT1 (Y37S)	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	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 3352415	NM_024656.4(COLGALT1):c.270G>A (p.Thr90=)	COLGALT1	Single nucleotide variant (synonymous variant)	COLGALT1-related disorder	GLikely benign
Select item 808501	NM_024656.4(COLGALT1):c.273C>T (p.Asp91=)	COLGALT1	Single nucleotide variant (synonymous variant)	not provided	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	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 3268901	NM_024656.4(COLGALT1):c.461C>G (p.Ala154Gly)	COLGALT1 (A154G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided	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 3268899	NM_024656.4(COLGALT1):c.568C>T (p.Pro190Ser)	COLGALT1 (P190S)	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)	not provided	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	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 3253573	NM_024656.4(COLGALT1):c.829+1G>T	COLGALT1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance

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