SVIL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 150697	GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1	ABI1, ACBD5 +101 more	Copy number loss	See cases	GPathogenic
Select item 58719	GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1	ACBD5, ANKRD26 +90 more	Copy number loss	See cases	GPathogenic
Select item 59700	GRCh38/hg38 10p12.1-11.23(chr10:27767970-30046085)x3	BAMBI, C10orf126 +49 more	Copy number gain	See cases	GPathogenic
Select item 1242800	NM_021738.3(SVIL):c.*15GAG[1]	SVIL, SVIL-AS1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2215311	NM_021738.3(SVIL):c.6602C>T (p.Ala2201Val)	SVIL, SVIL-AS1 (A1891V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172474	NM_021738.3(SVIL):c.6601G>A (p.Ala2201Thr)	SVIL, SVIL-AS1 (A1775T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1225817	NM_021738.3(SVIL):c.6600C>T (p.Pro2200=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2324076	NM_021738.3(SVIL):c.6560T>C (p.Phe2187Ser)	SVIL, SVIL-AS1 (F1761S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1230829	NM_021738.3(SVIL):c.6558+50del	SVIL, SVIL-AS1	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1228692	NM_021738.3(SVIL):c.6558+48G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 3172473	NM_021738.3(SVIL):c.6556G>A (p.Glu2186Lys)	SVIL, SVIL-AS1 (E1792K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2209505	NM_021738.3(SVIL):c.6544G>A (p.Asp2182Asn)	SVIL, SVIL-AS1 (D1756N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 712586	NM_021738.3(SVIL):c.6543C>T (p.Thr2181=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2490421	NM_021738.3(SVIL):c.6506A>C (p.Glu2169Ala)	SVIL, SVIL-AS1 (E1775A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1268155	NM_021738.3(SVIL):c.6504G>A (p.Pro2168=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2259646	NM_021738.3(SVIL):c.6484C>T (p.Leu2162Phe)	SVIL, SVIL-AS1 (L1736F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3172471	NM_021738.3(SVIL):c.6481G>A (p.Asp2161Asn)	SVIL, SVIL-AS1 (D1851N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 747041	NM_021738.3(SVIL):c.6474G>A (p.Pro2158=)	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3172470	NM_021738.3(SVIL):c.6448G>A (p.Ala2150Thr)	SVIL, SVIL-AS1 (A1756T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717933	NM_021738.3(SVIL):c.6441C>T (p.Asp2147=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323762	NM_021738.3(SVIL):c.6419A>G (p.Asn2140Ser)	SVIL, SVIL-AS1 (N1714S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248642	NM_021738.3(SVIL):c.6403-100A>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270993	NM_021738.3(SVIL):c.6402+114C>G	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708325	NM_021738.3(SVIL):c.6402+10C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2526696	NM_021738.3(SVIL):c.6353T>C (p.Met2118Thr)	SVIL, SVIL-AS1 (M1808T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172469	NM_021738.3(SVIL):c.6347C>T (p.Thr2116Ile)	SVIL, SVIL-AS1 (T1806I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730307	NM_021738.3(SVIL):c.6318C>T (p.Ile2106=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2380019	NM_021738.3(SVIL):c.6301C>A (p.Pro2101Thr)	SVIL, SVIL-AS1 (P1675T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557493	NM_021738.3(SVIL):c.6286C>G (p.Leu2096Val)	SVIL, SVIL-AS1 (L2096V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226191	NM_021738.3(SVIL):c.6278-138G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232961	NM_021738.3(SVIL):c.6278-165_6278-162del	SVIL, SVIL-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1236508	NM_021738.3(SVIL):c.6277+210A>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3172468	NM_021738.3(SVIL):c.6223C>T (p.Arg2075Cys)	SVIL, SVIL-AS1 (R1765C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782288	NM_021738.3(SVIL):c.6213C>T (p.Ser2071=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 493068	NM_021738.3(SVIL):c.6200A>C (p.Lys2067Thr)	SVIL, SVIL-AS1 (K1641T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2486748	NM_021738.3(SVIL):c.6169C>T (p.Leu2057Phe)	SVIL, SVIL-AS1 (L1747F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267539	NM_021738.3(SVIL):c.6163G>A (p.Val2055Met)	SVIL, SVIL-AS1 (V2055M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1243710	NM_021738.3(SVIL):c.6134-116T>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264118	NM_021738.3(SVIL):c.6133+15G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 10 +1 more	GBenign/Likely benign
Select item 1271569	NM_021738.3(SVIL):c.6122C>T (p.Ala2041Val)	SVIL, SVIL-AS1 (A1615V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1248307	NM_021738.3(SVIL):c.6114G>A (p.Leu2038=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323760	NM_021738.3(SVIL):c.6068G>A (p.Arg2023Gln)	SVIL, SVIL-AS1 (R1713Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259087	NM_021738.3(SVIL):c.6048A>G (p.Thr2016=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2204672	NM_021738.3(SVIL):c.6034G>A (p.Asp2012Asn)	SVIL, SVIL-AS1 (D1618N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273173	NM_021738.3(SVIL):c.6013A>G (p.Ile2005Val)	SVIL, SVIL-AS1 (I1579V +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2230442	NM_021738.3(SVIL):c.5998G>C (p.Ala2000Pro)	SVIL, SVIL-AS1 (A1690P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1220994	NM_021738.3(SVIL):c.5982T>C (p.Pro1994=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1243134	NM_021738.3(SVIL):c.5977+212G>C	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3323763	NM_021738.3(SVIL):c.5970G>A (p.Met1990Ile)	SVIL, SVIL-AS1 (M1564I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2525706	NM_021738.3(SVIL):c.5893G>A (p.Glu1965Lys)	SVIL, SVIL-AS1 (E1571K +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3363173	NM_021738.3(SVIL):c.5879A>G (p.Lys1960Arg)	SVIL, SVIL-AS1 (K1534R +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 2495706	NM_021738.3(SVIL):c.5858C>G (p.Ala1953Gly)	SVIL, SVIL-AS1 (A1527G +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1280125	NM_021738.3(SVIL):c.5844-232G>A	SVIL, SVIL-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1273237	NM_021738.3(SVIL):c.5843+30del	SVIL, SVIL-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1268920	NM_021738.3(SVIL):c.5823T>C (p.Ala1941=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3172467	NM_021738.3(SVIL):c.5821G>A (p.Ala1941Thr)	SVIL, SVIL-AS1 (A1515T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508625	NM_021738.3(SVIL):c.5749G>A (p.Val1917Ile)	SVIL, SVIL-AS1 (V1607I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278488	NM_021738.3(SVIL):c.5714G>A (p.Ser1905Asn)	SVIL, SVIL-AS1 (S1479N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486518	NM_021738.3(SVIL):c.5696T>G (p.Val1899Gly)	SVIL, SVIL-AS1 (V1899G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553321	NM_021738.3(SVIL):c.5666A>G (p.Glu1889Gly)	SVIL, SVIL-AS1 (E1463G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172466	NM_021738.3(SVIL):c.5660G>A (p.Arg1887His)	SVIL, SVIL-AS1 (R1887H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1251701	NM_021738.3(SVIL):c.5636-15C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278944	NM_021738.3(SVIL):c.5636-22G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238148	NM_021738.3(SVIL):c.5636-180C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3323766	NM_021738.3(SVIL):c.5630T>G (p.Val1877Gly)	SVIL, SVIL-AS1 (V1567G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555926	NM_021738.3(SVIL):c.5596C>A (p.His1866Asn)	SVIL, SVIL-AS1 (H1556N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246779	NM_021738.3(SVIL):c.5581G>A (p.Gly1861Arg)	SVIL, SVIL-AS1 (G1467R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1222618	NM_021738.3(SVIL):c.5530-37G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249423	NM_021738.3(SVIL):c.5530-190del	SVIL, SVIL-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1224037	NM_021738.3(SVIL):c.5529+161G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270310	NM_021738.3(SVIL):c.5529+111C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2368644	NM_021738.3(SVIL):c.5498C>T (p.Thr1833Met)	SVIL, SVIL-AS1 (T1833M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172465	NM_021738.3(SVIL):c.5495T>C (p.Met1832Thr)	SVIL, SVIL-AS1 (M1438T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172464	NM_021738.3(SVIL):c.5483C>T (p.Thr1828Met)	SVIL, SVIL-AS1 (T1402M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243130	NM_021738.3(SVIL):c.5456G>A (p.Arg1819Gln)	SVIL, SVIL-AS1 (R1393Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521493	NM_021738.3(SVIL):c.5455C>T (p.Arg1819Trp)	SVIL, SVIL-AS1 (R1819W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781787	NM_021738.3(SVIL):c.5433C>T (p.Cys1811=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594141	NM_021738.3(SVIL):c.5419G>A (p.Gly1807Ser)	SVIL, SVIL-AS1 (G1497S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218149	NM_021738.3(SVIL):c.5407G>A (p.Val1803Met)	SVIL, SVIL-AS1 (V1409M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383108	NM_021738.3(SVIL):c.5395G>A (p.Gly1799Arg)	SVIL, SVIL-AS1 (G1799R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285607	NM_021738.3(SVIL):c.5391G>C (p.Gln1797His)	SVIL, SVIL-AS1 (Q1487H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172463	NM_021738.3(SVIL):c.5386C>G (p.Arg1796Gly)	SVIL, SVIL-AS1 (R1796G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279606	NM_021738.3(SVIL):c.5378-79G>C	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253939	NM_021738.3(SVIL):c.5378-79G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261941	NM_021738.3(SVIL):c.5378-162C>T	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288858	NM_021738.3(SVIL):c.5377+178G>A	SVIL, SVIL-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3172462	NM_021738.3(SVIL):c.5362A>G (p.Met1788Val)	SVIL, SVIL-AS1 (M1362V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238238	NM_021738.3(SVIL):c.5299C>T (p.Leu1767Phe)	SVIL, SVIL-AS1 (L1341F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208012	NM_021738.3(SVIL):c.5260G>A (p.Val1754Met)	SVIL, SVIL-AS1 (V1328M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1273843	NM_021738.3(SVIL):c.5254G>A (p.Val1752Ile)	SVIL, SVIL-AS1 (V1326I +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2316691	NM_021738.3(SVIL):c.5197G>A (p.Gly1733Ser)	SVIL, SVIL-AS1 (G1339S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1221374	NM_021738.3(SVIL):c.5196C>T (p.Val1732=)	SVIL, SVIL-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410858	NM_021738.3(SVIL):c.5194G>A (p.Val1732Ile)	SVIL, SVIL-AS1 (V1732I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482653	NM_021738.3(SVIL):c.5192A>T (p.Asn1731Ile)	SVIL, SVIL-AS1 (N1337I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204317	NM_021738.3(SVIL):c.5162C>T (p.Thr1721Met)	SVIL, SVIL-AS1 (T1327M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386898	NM_021738.3(SVIL):c.5140C>T (p.Arg1714Trp)	SVIL, SVIL-AS1 (R1714W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710443	NM_021738.3(SVIL):c.5138C>T (p.Thr1713Ile)	SVIL, SVIL-AS1 (T1713I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2062672	NM_021738.3(SVIL):c.5101-1G>A	SVIL, SVIL-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic

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