SFI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 2493829	NM_001007467.3(SFI1):c.34A>T (p.Ser12Cys)	SFI1 (S12C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160867	NM_001007467.3(SFI1):c.83T>C (p.Val28Ala)	SFI1 (V28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403138	NM_001007467.3(SFI1):c.160G>T (p.Ala54Ser)	SFI1 (A54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541601	NM_001007467.3(SFI1):c.163T>C (p.Ser55Pro)	SFI1 (S55P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345171	NM_001007467.3(SFI1):c.175C>T (p.Arg59Trp)	SFI1 (R59W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160844	NM_001007467.3(SFI1):c.176G>C (p.Arg59Pro)	SFI1 (R59P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268210	NM_001007467.3(SFI1):c.191G>T (p.Ser64Ile)	SFI1 (S64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775775	NM_001007467.3(SFI1):c.215G>A (p.Arg72His)	SFI1 (R72H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2610512	NM_001007467.3(SFI1):c.226A>G (p.Thr76Ala)	SFI1 (T76A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2592992	NM_001007467.3(SFI1):c.244C>T (p.Arg82Trp)	SFI1 (R82W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160855	NM_001007467.3(SFI1):c.260G>T (p.Arg87Leu)	SFI1 (R87L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233114	NM_001007467.3(SFI1):c.268T>G (p.Cys90Gly)	SFI1 (C90G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160856	NM_001007467.3(SFI1):c.294A>T (p.Leu98Phe)	SFI1 (L98F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380462	NM_001007467.3(SFI1):c.347A>G (p.Tyr116Cys)	SFI1 (Y34C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542555	NM_001007467.3(SFI1):c.356G>A (p.Arg119Gln)	SFI1 (R119Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2620180	NM_001007467.3(SFI1):c.386A>C (p.Lys129Thr)	SFI1 (K129T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512155	NM_001007467.3(SFI1):c.390G>C (p.Glu130Asp)	SFI1 (E106D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298685	NM_001007467.3(SFI1):c.414G>T (p.Glu138Asp)	SFI1 (E114D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653069	NM_001007467.3(SFI1):c.450-8C>T	SFI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2374019	NM_001007467.3(SFI1):c.497G>A (p.Arg166His)	SFI1 (R166H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220801	NM_001007467.3(SFI1):c.506A>G (p.Gln169Arg)	SFI1 (Q87R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2352065	NM_001007467.3(SFI1):c.582G>T (p.Trp194Cys)	SFI1 (W112C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381448	NM_001007467.3(SFI1):c.661C>T (p.Arg221Trp)	SFI1 (R197W +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623280	NM_001007467.3(SFI1):c.701T>A (p.Val234Asp)	SFI1 (V210D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346830	NM_001007467.3(SFI1):c.704G>C (p.Arg235Pro)	SFI1 (R153P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160866	NM_001007467.3(SFI1):c.713G>C (p.Arg238Pro)	SFI1 (R214P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489067	NM_001007467.3(SFI1):c.773C>T (p.Ser258Leu)	SFI1 (S234L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268719	NM_001007467.3(SFI1):c.820G>A (p.Val274Ile)	SFI1 (V250I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359501	NM_001007467.3(SFI1):c.832G>A (p.Val278Met)	SFI1 (V196M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610834	NM_001007467.3(SFI1):c.854A>G (p.Gln285Arg)	SFI1 (Q261R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326656	NM_001007467.3(SFI1):c.874G>C (p.Ala292Pro)	SFI1 (A210P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387972	NM_001007467.3(SFI1):c.914A>G (p.Gln305Arg)	SFI1 (Q305R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300847	NM_001007467.3(SFI1):c.985G>A (p.Ala329Thr)	SFI1 (A247T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361705	NM_001007467.3(SFI1):c.994C>T (p.Arg332Trp)	SFI1 (R250W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160839	NM_001007467.3(SFI1):c.1015C>T (p.His339Tyr)	SFI1 (H315Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2409909	NM_001007467.3(SFI1):c.1060C>T (p.Arg354Cys)	SFI1 (R354C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160840	NM_001007467.3(SFI1):c.1061G>A (p.Arg354His)	SFI1 (R330H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288088	NM_001007467.3(SFI1):c.1081C>T (p.His361Tyr)	SFI1 (H337Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210878	NM_001007467.3(SFI1):c.1087A>G (p.Met363Val)	SFI1 (M363V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2606793	NM_001007467.3(SFI1):c.1183A>G (p.Asn395Asp)	SFI1 (N395D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389033	NM_001007467.3(SFI1):c.1258A>G (p.Arg420Gly)	SFI1 (R338G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375902	NM_001007467.3(SFI1):c.1276C>T (p.Arg426Trp)	SFI1 (R371W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348360	NM_001007467.3(SFI1):c.1277G>A (p.Arg426Gln)	SFI1 (R371Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271514	NM_001007467.3(SFI1):c.1324C>G (p.His442Asp)	SFI1 (H360D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160841	NM_001007467.3(SFI1):c.1327G>C (p.Ala443Pro)	SFI1 (A361P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160842	NM_001007467.3(SFI1):c.1372G>C (p.Glu458Gln)	SFI1 (E458Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212010	NM_001007467.3(SFI1):c.1385A>G (p.Gln462Arg)	SFI1 (Q431R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160843	NM_001007467.3(SFI1):c.1412A>G (p.Gln471Arg)	SFI1 (Q389R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237159	NM_001007467.3(SFI1):c.1436G>T (p.Gly479Val)	SFI1 (G448V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274059	NM_001007467.3(SFI1):c.1487T>C (p.Leu496Pro)	SFI1 (L441P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389071	NM_001007467.3(SFI1):c.1499G>A (p.Arg500His)	SFI1 (R418H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2260699	NM_001007467.3(SFI1):c.1503C>A (p.His501Gln)	SFI1 (H446Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554311	NM_001007467.3(SFI1):c.1615G>A (p.Ala539Thr)	SFI1 (A484T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471699	NM_001007467.3(SFI1):c.1741C>T (p.Arg581Cys)	SFI1 (R550C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384865	NM_001007467.3(SFI1):c.1750C>T (p.Arg584Trp)	SFI1 (R529W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160845	NM_001007467.3(SFI1):c.1811C>T (p.Thr604Met)	SFI1 (T573M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538122	NM_001007467.3(SFI1):c.1855C>T (p.Arg619Cys)	SFI1 (R537C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321241	NM_001007467.3(SFI1):c.1877G>A (p.Arg626Lys)	SFI1 (R571K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160846	NM_001007467.3(SFI1):c.1895G>A (p.Arg632Gln)	SFI1 (R577Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277748	NM_001007467.3(SFI1):c.1906C>T (p.Arg636Trp)	SFI1 (R554W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268818	NM_001007467.3(SFI1):c.1919T>C (p.Met640Thr)	SFI1 (M558T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653070	NM_001007467.3(SFI1):c.1930C>T (p.Leu644=)	SFI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541448	NM_001007467.3(SFI1):c.1936C>T (p.His646Tyr)	SFI1 (H564Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612985	NM_001007467.3(SFI1):c.1947C>G (p.Ser649Arg)	SFI1 (S618R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160847	NM_001007467.3(SFI1):c.1968G>C (p.Gln656His)	SFI1 (Q574H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160848	NM_001007467.3(SFI1):c.2008C>T (p.Arg670Trp)	SFI1 (R588W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591968	NM_001007467.3(SFI1):c.2021C>A (p.Ala674Asp)	SFI1 (A592D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344398	NM_001007467.3(SFI1):c.2025G>C (p.Arg675Ser)	SFI1 (R593S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160849	NM_001007467.3(SFI1):c.2073G>T (p.Trp691Cys)	SFI1 (W636C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404341	NM_001007467.3(SFI1):c.2093G>A (p.Arg698Gln)	SFI1 (R616Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367622	NM_001007467.3(SFI1):c.2188G>A (p.Val730Met)	SFI1 (V636M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272733	NM_001007467.3(SFI1):c.2263C>T (p.Arg755Trp)	SFI1 (R661W +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2363332	NM_001007467.3(SFI1):c.2276A>G (p.Gln759Arg)	SFI1 (Q665R +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3160850	NM_001007467.3(SFI1):c.2278C>T (p.Arg760Cys)	SFI1 (R678C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160851	NM_001007467.3(SFI1):c.2296C>T (p.Arg766Trp)	SFI1 (R672W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307550	NM_001007467.3(SFI1):c.2350C>T (p.Arg784Trp)	SFI1 (R690W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596647	NM_001007467.3(SFI1):c.2351G>A (p.Arg784Gln)	SFI1 (R702Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354953	NM_001007467.3(SFI1):c.2377C>T (p.Arg793Trp)	SFI1 (R762W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366764	NM_001007467.3(SFI1):c.2378G>A (p.Arg793Gln)	SFI1 (R699Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160852	NM_001007467.3(SFI1):c.2387C>T (p.Thr796Met)	SFI1 (T741M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 781527	NM_001007467.3(SFI1):c.2390A>T (p.His797Leu)	SFI1 (H703L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2294429	NM_001007467.3(SFI1):c.2410A>G (p.Lys804Glu)	SFI1 (K710E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481616	NM_001007467.3(SFI1):c.2465C>T (p.Thr822Ile)	SFI1 (T740I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317510	NM_001007467.3(SFI1):c.2519C>T (p.Ala840Val)	SFI1 (A746V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160853	NM_001007467.3(SFI1):c.2545G>A (p.Ala849Thr)	SFI1 (A849T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597849	NM_001007467.3(SFI1):c.2585C>T (p.Ala862Val)	SFI1 (A780V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160854	NM_001007467.3(SFI1):c.2597A>G (p.Glu866Gly)	SFI1 (E835G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591532	NM_001007467.3(SFI1):c.2618G>A (p.Arg873Gln)	SFI1 (R779Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287339	NM_001007467.3(SFI1):c.2629G>A (p.Ala877Thr)	SFI1 (A783T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290530	NM_001007467.3(SFI1):c.2636A>G (p.Gln879Arg)	SFI1 (Q785R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408591	NM_001007467.3(SFI1):c.2672C>T (p.Thr891Met)	SFI1 (T797M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356234	NM_001007467.3(SFI1):c.2674C>T (p.Arg892Trp)	SFI1 (R798W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565393	NM_001007467.3(SFI1):c.2683C>T (p.Arg895Cys)	SFI1 (R813C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653071	NM_001007467.3(SFI1):c.2697C>T (p.Ser899=)	SFI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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