STIL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 297541	NM_001048166.1(STIL):c.*992A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297542	NM_001048166.1(STIL):c.*978T>C	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 875682	NM_001048166.1(STIL):c.*885C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297543	NM_001048166.1(STIL):c.*883A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297544	NM_001048166.1(STIL):c.766_767del	STIL	Deletion (3 prime UTR variant)	Primary Microcephaly, Recessive	GBenign
Select item 875683	NM_001048166.1(STIL):c.*730A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GLikely benign
Select item 297545	NM_001048166.1(STIL):c.*599A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297546	NM_001048166.1(STIL):c.*577G>A	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GBenign
Select item 297547	NM_001048166.1(STIL):c.*545C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297548	NM_001048166.1(STIL):c.*316T>C	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GBenign
Select item 297549	NM_001048166.1(STIL):c.*252A>G	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876677	NM_001048166.1(STIL):c.*203C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876678	NM_001048166.1(STIL):c.*2C>T	STIL	Single nucleotide variant (3 prime UTR variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 876679	NM_001048166.1(STIL):c.3839G>A (p.Arg1280His)	STIL (R1262H +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 502127	NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys)	STIL (R1279C +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2491509	NM_001048166.1(STIL):c.3836A>G (p.Lys1279Arg)	STIL (K1232R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 94097	NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)	STIL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 436885	NM_001048166.1(STIL):c.3754A>G (p.Ile1252Val)	STIL (I1251V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1314009	NM_001048166.1(STIL):c.3752C>T (p.Thr1251Ile)	STIL (T1186I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794131	NM_001048166.1(STIL):c.3750T>A (p.Ile1250=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12948	NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter)	STIL (Q1239* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 7, primary, autosomal recessive	GPathogenic
Select item 94096	NM_001048166.1(STIL):c.3714C>T (p.Phe1238=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 737417	NM_001048166.1(STIL):c.3699C>T (p.Thr1233=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 2145596	NM_001048166.1(STIL):c.3695G>A (p.Arg1232Gln)	STIL (R1231Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12949	NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer)	STIL	Deletion (nonsense)	Microcephaly 7, primary, autosomal recessive	GPathogenic
Select item 2412703	NM_001048166.1(STIL):c.3640G>T (p.Glu1214Ter)	STIL (E1149* +4 more)	Single nucleotide variant (nonsense)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2045640	NM_001048166.1(STIL):c.3640G>A (p.Glu1214Lys)	STIL (E1149K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 632109	NM_001048166.1(STIL):c.3637dup (p.Thr1213fs)	STIL (T1148fs +4 more)	Duplication (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2002362	NM_001048166.1(STIL):c.3615G>T (p.Gln1205His)	STIL (Q1140H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212323	NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)	STIL (P1193L +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1576038	NM_001048166.1(STIL):c.3579G>T (p.Thr1193=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 873842	NM_001048166.1(STIL):c.3579G>A (p.Thr1193=)	STIL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297550	NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn)	STIL (D1192N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 873843	NM_001048166.1(STIL):c.3563G>T (p.Gly1188Val)	STIL (G1188V +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2690165	NM_001048166.1(STIL):c.3552_3553del (p.Cys1184_Glu1185delinsTer)	STIL	Microsatellite (nonsense)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 3001520	NM_001048166.1(STIL):c.3546T>C (p.Ser1182=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2433997	NM_001048166.1(STIL):c.3538_3541del (p.Asn1180fs)	STIL (N1115fs +4 more)	Microsatellite (frameshift variant)	Microcephaly 7, primary, autosomal recessive	GLikely pathogenic
Select item 2244494	NM_001048166.1(STIL):c.3525C>A (p.Asp1175Glu)	STIL (D1175E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 297551	NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe)	STIL (S1171F +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 873844	NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro)	STIL (L1100P +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 873845	NM_001048166.1(STIL):c.3491A>T (p.Gln1164Leu)	STIL (Q1146L +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 160066	NM_001048166.1(STIL):c.3486T>G (p.Pro1162=)	STIL	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 94095	NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign
Select item 21357	NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)	STIL (A1146V +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1492390	NM_001048166.1(STIL):c.3434A>G (p.Asn1145Ser)	STIL (N1080S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160065	NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn)	STIL (D1143N +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 160064	NM_001048166.1(STIL):c.3429C>T (p.Pro1143=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2284734	NM_001048166.1(STIL):c.3398G>A (p.Ser1133Asn)	STIL (S1068N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 160063	NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 514180	NM_001048166.1(STIL):c.3321G>C (p.Gly1107=)	STIL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3171195	NM_001048166.1(STIL):c.3316G>A (p.Val1106Met)	STIL (V1106M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 745882	NM_001048166.1(STIL):c.3276C>T (p.Asp1092=)	STIL	Single nucleotide variant (synonymous variant)	STIL-related disorder +1 more	GLikely benign
Select item 3171194	NM_001048166.1(STIL):c.3268A>G (p.Asn1090Asp)	STIL (N1072D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1311978	NM_001048166.1(STIL):c.3257C>T (p.Ser1086Leu)	STIL (S1021L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297552	NM_001048166.1(STIL):c.3207T>C (p.Ala1069=)	STIL	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 874794	NM_001048166.1(STIL):c.3170A>G (p.Asn1057Ser)	STIL (N1057S +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 160062	NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser)	STIL (G1052S +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 497987	NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2556564	NM_001048166.1(STIL):c.3151A>C (p.Met1051Leu)	STIL (M1004L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1477828	NM_001048166.1(STIL):c.3113T>G (p.Ile1038Ser)	STIL (I1038S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971158	NM_001048166.1(STIL):c.3100C>A (p.Pro1034Thr)	STIL (P987T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977536	NM_001048166.1(STIL):c.3096C>T (p.Ile1032=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969371	NM_001048166.1(STIL):c.3080+9T>C	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1336712	NM_001048166.1(STIL):c.3067G>A (p.Val1023Met)	STIL (V1005M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 160061	NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)	STIL (V1022L +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 874795	NM_001048166.1(STIL):c.3061C>T (p.His1021Tyr)	STIL (H1003Y +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 225107	NM_001048166.1(STIL):c.3010A>G (p.Arg1004Gly)	STIL (R1003G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 21356	NM_001048166.1(STIL):c.2957A>G (p.His986Arg)	STIL (H986R +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided
Select item 94094	NM_001048166.1(STIL):c.2954A>G (p.His985Arg)	STIL (H984R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 160060	NM_001048166.1(STIL):c.2951C>T (p.Thr984Ile)	STIL (T983I +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 2981950	NM_001048166.1(STIL):c.2940A>G (p.Thr980=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1368068	NM_001048166.1(STIL):c.2938A>G (p.Thr980Ala)	STIL (T915A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392708	NM_001048166.1(STIL):c.2936A>C (p.His979Pro)	STIL (H978P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430104	NM_001048166.1(STIL):c.2918G>A (p.Arg973Lys)	STIL (R972K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194628	NM_001048166.1(STIL):c.2906A>G (p.His969Arg)	STIL (H969R +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 385719	NM_001048166.1(STIL):c.2880G>A (p.Pro960=)	STIL	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2233378	NM_001048166.1(STIL):c.2863A>G (p.Lys955Glu)	STIL (K954E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 21355	NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr)	STIL (S953Y +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	Gnot provided
Select item 160059	NM_001048166.1(STIL):c.2855G>A (p.Ser952Asn)	STIL (S951N +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 297553	NM_001048166.1(STIL):c.2847A>G (p.Leu949=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 423587	NM_001048166.1(STIL):c.2830-2A>G	STIL	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1663573	NM_001048166.1(STIL):c.2830-19T>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594071	NM_001048166.1(STIL):c.2830-20dup	STIL	Duplication (intron variant)	not provided	GBenign
Select item 1187813	NM_001048166.1(STIL):c.2830-54G>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231506	NM_001048166.1(STIL):c.2830-96T>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204236	NM_001048166.1(STIL):c.2829+227G>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182818	NM_001048166.1(STIL):c.2829+116T>C	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203758	NM_001048166.1(STIL):c.2829+85G>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 12950	NM_001048166.1(STIL):c.2829+1G>A	STIL	Single nucleotide variant (splice donor variant)	Microcephaly 7, primary, autosomal recessive	GPathogenic
Select item 875728	NM_001048166.1(STIL):c.2829G>C (p.Leu943Phe)	STIL (L878F +4 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive	GUncertain significance
Select item 1336805	NM_001048166.1(STIL):c.2795C>G (p.Pro932Arg)	STIL (P867R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638805	NM_001048166.1(STIL):c.2793A>G (p.Gln931=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466680	NM_001048166.1(STIL):c.2784G>C (p.Leu928Phe)	STIL (L927F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171193	NM_001048166.1(STIL):c.2777A>C (p.Gln926Pro)	STIL (Q879P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1517675	NM_001048166.1(STIL):c.2769T>A (p.His923Gln)	STIL (H905Q +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896727	NM_001048166.1(STIL):c.2766G>A (p.Glu922=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 290996	NM_001048166.1(STIL):c.2755C>T (p.Pro919Ser)	STIL (P918S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3171192	NM_001048166.1(STIL):c.2689G>A (p.Val897Ile)	STIL (V850I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 297554	NM_001048166.1(STIL):c.2687G>T (p.Ser896Ile)	STIL (S895I +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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