SOX6[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 173

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 1951520	NM_001367873.1(SOX6):c.2484C>A (p.Asn828Lys)	SOX6 (N787K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1598280	NM_001367873.1(SOX6):c.2466G>A (p.Pro822=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1586103	NM_001367873.1(SOX6):c.2457T>C (p.Asn819=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2980714	NM_001367873.1(SOX6):c.2448C>T (p.Ser816=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208382	NM_001367873.1(SOX6):c.2447G>A (p.Ser816Asn)	SOX6 (S796N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197029	NM_001367873.1(SOX6):c.2445T>C (p.Tyr815=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316591	NM_001367873.1(SOX6):c.2330_2333dup (p.Ser778fs)	SOX6 (S737fs +3 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2641628	NM_001367873.1(SOX6):c.2314A>G (p.Ser772Gly)	SOX6 (S731G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2560053	NM_001367873.1(SOX6):c.2306C>G (p.Pro769Arg)	SOX6 (P728R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3030154	NM_001367873.1(SOX6):c.2267C>G (p.Pro756Arg)	SOX6 (P715R +3 more)	Single nucleotide variant (missense variant)	SOX6-related disorder	GUncertain significance
Select item 3068285	NM_001367873.1(SOX6):c.2224G>A (p.Val742Met)	SOX6 (V701M +3 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 1189992	NM_001367873.1(SOX6):c.2183+7A>G	SOX6	Single nucleotide variant (intron variant)	SOX6-related disorder +1 more	GBenign/Likely benign
Select item 1529087	NM_001367873.1(SOX6):c.2181G>T (p.Val727=)	SOX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2329644	NM_001367873.1(SOX6):c.2180T>C (p.Val727Ala)	SOX6 (V727A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1804431	NM_001367873.1(SOX6):c.2170T>C (p.Phe724Leu)	SOX6 (F683L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641629	NM_001367873.1(SOX6):c.2169G>A (p.Gln723=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2337594	NM_001367873.1(SOX6):c.2144G>A (p.Arg715Lys)	SOX6 (R688K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2089326	NM_001367873.1(SOX6):c.2082G>A (p.Pro694=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1213429	NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter)	SOX6 (R652* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1698987	NM_001367873.1(SOX6):c.2074C>T (p.Pro692Ser)	SOX6 (P651S +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3067435	NM_001367873.1(SOX6):c.2040C>T (p.Ile680=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985429	NM_001367873.1(SOX6):c.2027G>A (p.Arg676Gln)	SOX6 (R635Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627902	NM_001367873.1(SOX6):c.2026del (p.Arg676fs)	SOX6 (R635fs +3 more)	Deletion (frameshift variant)	Tolchin-Le Caignec syndrome	GPathogenic
Select item 3026712	NM_001367873.1(SOX6):c.1997A>G (p.Glu666Gly)	SOX6 (E625G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641630	NM_001367873.1(SOX6):c.1995G>A (p.Gln665=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 974907	NM_001367873.1(SOX6):c.1975T>A (p.Trp659Arg)	SOX6 (W618R +2 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GPathogenic
Select item 2888317	NM_001367873.1(SOX6):c.1967-9T>C	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1992148	NM_001367873.1(SOX6):c.1967-11T>C	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801299	NM_001367873.1(SOX6):c.1967-17G>A	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246976	NM_001367873.1(SOX6):c.1967-269A>G	SOX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2764397	NM_001367873.1(SOX6):c.1966+13G>C	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695142	NM_001367873.1(SOX6):c.1962C>T (p.Ile654=)	SOX6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1321955	NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys)	SOX6 (W590C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 974906	NM_001367873.1(SOX6):c.1874T>C (p.Met625Thr)	SOX6 (M584T +2 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GPathogenic
Select item 1707954	NM_001367873.1(SOX6):c.1868G>A (p.Arg623Gln)	SOX6 (R582Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2288424	NM_001367873.1(SOX6):c.1840C>A (p.Arg614Ser)	SOX6 (R573S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 514001	NM_001367873.1(SOX6):c.1733-3C>T	SOX6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1540113	NM_001367873.1(SOX6):c.1732+10T>C	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2641631	NM_001367873.1(SOX6):c.1732+6T>C	SOX6	Single nucleotide variant (intron variant)	SOX6-related disorder +1 more	GBenign/Likely benign
Select item 2536036	NM_001367873.1(SOX6):c.1729G>A (p.Glu577Lys)	SOX6 (E536K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049317	NM_001367873.1(SOX6):c.1704C>T (p.Ile568=)	SOX6	Single nucleotide variant (synonymous variant)	SOX6-related disorder	GLikely benign
Select item 2548486	NM_001367873.1(SOX6):c.1663G>C (p.Gly555Arg)	SOX6 (G528R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2641632	NM_001367873.1(SOX6):c.1662G>A (p.Thr554=)	SOX6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896065	NM_001367873.1(SOX6):c.1634G>A (p.Arg545His)	SOX6 (R518H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2501274	NM_001367873.1(SOX6):c.1633C>T (p.Arg545Cys)	SOX6 (R504C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276393	NM_001367873.1(SOX6):c.1631C>T (p.Thr544Met)	SOX6 (T503M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2994035	NM_001367873.1(SOX6):c.1624-18G>T	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286591	NM_001367873.1(SOX6):c.1624-3579T>A	SOX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2526301	NM_001367873.1(SOX6):c.1585A>G (p.Ile529Val)	SOX6 (I502V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2298584	NM_001367873.1(SOX6):c.1549C>A (p.Gln517Lys)	SOX6 (Q517K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271928	NM_001367873.1(SOX6):c.1520G>A (p.Arg507Gln)	SOX6 (R466Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1705315	NM_001367873.1(SOX6):c.1519C>T (p.Arg507Ter)	SOX6 (R466* +2 more)	Single nucleotide variant (nonsense)	Tolchin-Le Caignec syndrome	GLikely pathogenic
Select item 2641633	NM_001367873.1(SOX6):c.1500del (p.Gln501fs)	SOX6 (Q460fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2446616	NM_001367873.1(SOX6):c.1486G>A (p.Val496Met)	SOX6 (V455M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961419	NM_001367873.1(SOX6):c.1436-18T>A	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1959743	NM_001367873.1(SOX6):c.1435+9A>G	SOX6 (K441E)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1331628	NM_001367873.1(SOX6):c.1433_1434del (p.Ser477_Leu478insTer)	SOX6 (L437fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2506072	NM_001367873.1(SOX6):c.1408G>A (p.Gly470Arg)	SOX6 (G429R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631684	NM_001367873.1(SOX6):c.1381A>G (p.Lys461Glu)	SOX6 (K420E +1 more)	Single nucleotide variant (missense variant)	SOX6-related disorder	GUncertain significance
Select item 3027141	NM_001367873.1(SOX6):c.1339C>T (p.Leu447Phe)	SOX6 (L406F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010355	NM_001367873.1(SOX6):c.1322C>A (p.Thr441Lys)	SOX6 (T400K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2591128	NM_001367873.1(SOX6):c.1301C>T (p.Ala434Val)	SOX6 (A434V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062085	NM_001367873.1(SOX6):c.1252G>A (p.Asp418Asn)	SOX6 (D377N +1 more)	Single nucleotide variant (missense variant)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 1328916	NM_001367873.1(SOX6):c.1252-6T>G	SOX6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1937677	NM_001367873.1(SOX6):c.1252-14T>C	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991528	NM_001367873.1(SOX6):c.1252-15G>A	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2046821	NM_001367873.1(SOX6):c.1251+9G>A	SOX6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2574807	NM_001367873.1(SOX6):c.1246G>C (p.Val416Leu)	SOX6 (V375L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057036	NM_001367873.1(SOX6):c.1222A>G (p.Arg408Gly)	SOX6 (R408G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1593752	NM_001367873.1(SOX6):c.1218A>G (p.Glu406=)	SOX6	Single nucleotide variant (synonymous variant)	SOX6-related disorder +1 more	GBenign/Likely benign
Select item 2573632	NM_001367873.1(SOX6):c.1217A>G (p.Glu406Gly)	SOX6 (E365G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2961540	NM_001367873.1(SOX6):c.1155G>A (p.Met385Ile)	SOX6 (M344I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502451	NM_001367873.1(SOX6):c.1154T>C (p.Met385Thr)	SOX6 (M344T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707929	NM_001367873.1(SOX6):c.1141C>A (p.Pro381Thr)	SOX6 (P340T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231290	NM_001367873.1(SOX6):c.1135G>T (p.Val379Leu)	SOX6 (V379L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2433671	NM_001367873.1(SOX6):c.1102C>T (p.Gln368Ter)	SOX6 (Q327* +1 more)	Single nucleotide variant (nonsense)	Tolchin-Le Caignec syndrome	GLikely pathogenic
Select item 1220991	NM_001367873.1(SOX6):c.1101+81del	SOX6	Deletion (intron variant)	not provided	GBenign
Select item 2641634	NM_001367873.1(SOX6):c.1087C>T (p.His363Tyr)	SOX6 (H363Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2389142	NM_001367873.1(SOX6):c.1083C>G (p.Tyr361Ter)	SOX6 (Y361*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2209067	NM_001367873.1(SOX6):c.1038del (p.Phe346fs)	SOX6 (F346fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2436264	NM_001367873.1(SOX6):c.1037T>C (p.Phe346Ser)	SOX6 (F346S)	Single nucleotide variant (missense variant +1 more)	Tolchin-Le Caignec syndrome	GUncertain significance
Select item 2471910	NM_001367873.1(SOX6):c.1033C>T (p.Arg345Cys)	SOX6 (R345C)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2409911	NM_001367873.1(SOX6):c.1028G>T (p.Ser343Ile)	SOX6 (S343I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1653346	NM_001367873.1(SOX6):c.979-14A>G	SOX6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699121	NM_001367873.1(SOX6):c.970C>T (p.Gln324Ter)	SOX6 (Q324*)	Single nucleotide variant (nonsense)	Tolchin-Le Caignec syndrome	GPathogenic
Select item 2189848	NM_001367873.1(SOX6):c.949G>C (p.Ala317Pro)	SOX6 (A317P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662613	NM_001367873.1(SOX6):c.944C>A (p.Ala315Asp)	SOX6 (A315D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182282	NM_001367873.1(SOX6):c.934A>G (p.Met312Val)	SOX6 (M312V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1298506	NM_001367873.1(SOX6):c.918G>C (p.Gln306His)	SOX6 (Q306H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2403052	NM_001367873.1(SOX6):c.913G>A (p.Val305Ile)	SOX6 (V305I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 57478	GRCh38/hg38 11p15.2(chr11:16101236-16446623)x1	LOC110120848, LOC110120926 +9 more	Copy number loss	See cases	GUncertain significance
Select item 1934001	NM_001367873.1(SOX6):c.884T>A (p.Ile295Lys)	LOC128772343, SOX6 (I295K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 977313	NM_001367873.1(SOX6):c.878dup (p.Gly294fs)	LOC128772343, SOX6 (G294fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 2960680	NM_001367873.1(SOX6):c.877C>G (p.Pro293Ala)	LOC128772343, SOX6 (P293A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2357641	NM_001367873.1(SOX6):c.877C>T (p.Pro293Ser)	LOC128772343, SOX6 (P293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020704	NM_001367873.1(SOX6):c.873C>A (p.Phe291Leu)	LOC128772343, SOX6 (F291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446507	NM_001367873.1(SOX6):c.871T>C (p.Phe291Leu)	LOC128772343, SOX6 (F291L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695601	NM_001367873.1(SOX6):c.841G>A (p.Ala281Thr)	LOC128772343, SOX6 (A281T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2