"GeneDx"[submitter] AND "STIL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94097	NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)	STIL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 212323	NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu)	STIL (P1193L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 +1 more	GBenign/Likely benign
Select item 94095	NM_001048166.1(STIL):c.3486T>C (p.Pro1162=)	STIL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 160063	NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)	STIL	Single nucleotide variant (synonymous variant)	not provided +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 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 497987	NM_001048166.1(STIL):c.3156C>T (p.Ser1052=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 94094	NM_001048166.1(STIL):c.2954A>G (p.His985Arg)	STIL (H984R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
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)	not specified +2 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 423587	NM_001048166.1(STIL):c.2830-2A>G	STIL	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
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 1177686	NM_001048166.1(STIL):c.2616-238C>A	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207479	NM_001048166.1(STIL):c.2616-246A>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670142	NM_001048166.1(STIL):c.2616-246A>C	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202521	NM_001048166.1(STIL):c.2615+256dup	STIL	Duplication (intron variant)	not provided	GLikely benign
Select item 160057	NM_001048166.1(STIL):c.2615+27A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302712	NM_001048166.1(STIL):c.2491A>G (p.Ile831Val)	STIL (I784V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308957	NM_001048166.1(STIL):c.2452A>G (p.Thr818Ala)	STIL (T771A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297555	NM_001048166.1(STIL):c.2384-13A>G	STIL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1226458	NM_001048166.1(STIL):c.2383+274G>A	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242741	NM_001048166.1(STIL):c.2383+263T>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200481	NM_001048166.1(STIL):c.2383+257T>G	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226869	NM_001048166.1(STIL):c.2383+111A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509590	NM_001048166.1(STIL):c.2383+11dup	STIL	Duplication (intron variant)	not specified	GLikely benign
Select item 194209	NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	STIL (V788I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 817814	NM_001048166.1(STIL):c.2289_2290del (p.Gln764fs)	STIL (Q717fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 139329	NM_001048166.1(STIL):c.2218-17G>A	STIL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1295564	NM_001048166.1(STIL):c.2218-208del	STIL	Deletion (intron variant)	not provided	GBenign
Select item 1232006	NM_001048166.1(STIL):c.2218-209_2218-208del	STIL	Deletion (intron variant)	not provided	GBenign
Select item 1188268	NM_001048166.1(STIL):c.2218-310G>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291604	NM_001048166.1(STIL):c.2217+269T>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449275	NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	STIL (S711L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +1 more	GUncertain significance
Select item 287268	NM_001048166.1(STIL):c.2070A>T (p.Ser690=)	STIL	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1314519	NM_001048166.1(STIL):c.2026C>T (p.Pro676Ser)	STIL (P629S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160053	NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)	STIL (S673G +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign/Likely benign
Select item 160052	NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)	STIL (L485F +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 160051	NM_001048166.1(STIL):c.1452C>G (p.Ser484=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GBenign
Select item 546576	NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr)	STIL (P422T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246005	NM_001048166.1(STIL):c.1249-112C>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182531	NM_001048166.1(STIL):c.1249-209A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302667	NM_001048166.1(STIL):c.1231C>A (p.His411Asn)	STIL (H364N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160049	NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)	STIL (S379F +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 675580	NM_001048166.1(STIL):c.1133+227A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215555	NM_001048166.1(STIL):c.1133+144C>G	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 546578	NM_001048166.1(STIL):c.1092dup (p.Glu365fs)	STIL (E318fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 235445	NM_001048166.1(STIL):c.1055G>A (p.Arg352His)	STIL (R352H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 160047	NM_001048166.1(STIL):c.1024-4T>C	STIL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 673949	NM_001048166.1(STIL):c.1024-73C>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285653	NM_001048166.1(STIL):c.1024-92A>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207325	NM_001048166.1(STIL):c.1024-225G>A	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276180	NM_001048166.1(STIL):c.1024-337A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251227	NM_001048166.1(STIL):c.1023+113_1023+116del	STIL	Deletion (intron variant)	not provided	GBenign
Select item 297563	NM_001048166.1(STIL):c.1005A>G (p.Glu335=)	STIL	Single nucleotide variant (synonymous variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 3366220	NM_001048166.1(STIL):c.923_924delinsTA (p.His308Leu)	STIL (H261L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 282750	NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	STIL (N298D +1 more)	Single nucleotide variant (missense variant)	Microcephaly 7, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 1220041	NM_001048166.1(STIL):c.873-59A>G	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216586	NM_001048166.1(STIL):c.873-68C>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2504292	NM_001048166.1(STIL):c.785+1_785+3del	STIL	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 450838	NM_001048166.1(STIL):c.703dup (p.Tyr235fs)	STIL (Y188fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1198086	NM_001048166.1(STIL):c.702-138_702-137del	STIL	Deletion (intron variant)	not provided	GLikely benign
Select item 1186481	NM_001048166.1(STIL):c.702-202G>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672537	NM_001048166.1(STIL):c.701+188A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200603	NM_001048166.1(STIL):c.701+147G>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670465	NM_001048166.1(STIL):c.701+87A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303216	NM_001048166.1(STIL):c.614A>G (p.Lys205Arg)	STIL (K205R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 160068	NM_001048166.1(STIL):c.467A>G (p.His156Arg)	STIL (H156R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1214035	NM_001048166.1(STIL):c.454-231G>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189852	NM_001048166.1(STIL):c.454-288A>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222922	NM_001048166.1(STIL):c.454-322_454-321insAG	STIL	Insertion (intron variant)	not provided	GBenign
Select item 1290607	NM_001048166.1(STIL):c.454-323A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667532	NM_001048166.1(STIL):c.453+290A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213262	NM_001048166.1(STIL):c.453+230A>C	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670581	NM_001048166.1(STIL):c.453+92G>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445674	NM_001048166.1(STIL):c.453+18C>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 451761	NM_001048166.1(STIL):c.453+5G>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 379542	NM_001048166.1(STIL):c.428T>C (p.Val143Ala)	STIL (V143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 21354	NM_001048166.1(STIL):c.257C>T (p.Ala86Val)	STIL (A86V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1313587	NM_001048166.1(STIL):c.215A>G (p.Asn72Ser)	STIL (N72S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270774	NM_001048166.1(STIL):c.153-55G>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194616	NM_001048166.1(STIL):c.153-166C>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223651	NM_001048166.1(STIL):c.153-217T>C	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287157	NM_001048166.1(STIL):c.152+298C>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203881	NM_001048166.1(STIL):c.152+165C>T	STIL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265383	NM_001048166.1(STIL):c.152+145C>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670580	NM_001048166.1(STIL):c.152+120T>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672536	NM_001048166.1(STIL):c.152+95A>G	STIL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 196356	NM_001048166.1(STIL):c.152+4T>C	STIL	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 670141	NM_001048166.1(STIL):c.45-118A>T	STIL	Single nucleotide variant (intron variant)	not provided	GBenign

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