"Baylor Genetics"[submitter] AND "EXT1"[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2198318	NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)	EXT1 (Q721E)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675174	NM_000127.3(EXT1):c.2125G>T (p.Ala709Ser)	EXT1 (A709S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 802436	NM_000127.3(EXT1):c.2072G>A (p.Arg691His)	EXT1 (R691H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GUncertain significance
Select item 3241457	NM_000127.3(EXT1):c.2069C>G (p.Ser690Cys)	EXT1 (S690C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675171	NM_000127.3(EXT1):c.2065G>A (p.Ala689Thr)	EXT1 (A689T)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675152	NM_000127.3(EXT1):c.2063G>A (p.Arg688Gln)	EXT1 (R688Q)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675190	NM_000127.3(EXT1):c.2055+2dup	EXT1	Duplication (splice donor variant)	Chondrosarcoma	GLikely pathogenic
Select item 2675179	NM_000127.3(EXT1):c.2055+1G>C	EXT1	Single nucleotide variant (splice donor variant)	Chondrosarcoma	GLikely pathogenic
Select item 2675168	NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)	EXT1 (M657I)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675161	NM_000127.3(EXT1):c.1883+5G>A	EXT1	Single nucleotide variant (intron variant)	Chondrosarcoma	GUncertain significance
Select item 3241452	NM_000127.3(EXT1):c.1814G>T (p.Arg605Leu)	EXT1 (R605L)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 856372	NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)	EXT1 (I589V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 3241455	NM_000127.3(EXT1):c.1698G>C (p.Glu566Asp)	EXT1 (E566D)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675155	NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)	EXT1 (S563N)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675154	NM_000127.3(EXT1):c.1679C>T (p.Ala560Val)	EXT1 (A560V)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1912234	NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)	EXT1 (I557T)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675185	NM_000127.3(EXT1):c.1666A>G (p.Ile556Val)	EXT1 (I556V)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1502859	NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)	EXT1 (N555D)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GUncertain significance
Select item 3241440	NM_000127.3(EXT1):c.1646G>A (p.Arg549His)	EXT1 (R549H)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675178	NM_000127.3(EXT1):c.1618G>A (p.Glu540Lys)	EXT1 (E540K)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241449	NM_000127.3(EXT1):c.1603C>T (p.Pro535Ser)	EXT1 (P535S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675157	NM_000127.3(EXT1):c.1582C>T (p.Arg528Cys)	EXT1 (R528C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241443	NM_000127.3(EXT1):c.1532C>T (p.Ala511Val)	EXT1 (A511V)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675180	NM_000127.3(EXT1):c.1524G>C (p.Gln508His)	EXT1 (Q508H)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1412617	NM_000127.3(EXT1):c.1504G>A (p.Val502Met)	EXT1 (V502M)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2143012	NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)	EXT1 (P496S)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 265131	NM_000127.3(EXT1):c.1469del (p.Leu490fs)	EXT1 (L490fs)	Deletion (frameshift variant)	Chondrosarcoma +3 more	GPathogenic
Select item 938857	NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)	EXT1 (I484F)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 3241453	NM_000127.3(EXT1):c.1429C>A (p.Pro477Thr)	EXT1 (P477T)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241456	NM_000127.3(EXT1):c.1403A>T (p.Tyr468Phe)	EXT1 (Y468F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2421704	NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)	EXT1 (G463V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675158	NM_000127.3(EXT1):c.1355T>G (p.Leu452Trp)	EXT1 (L452W)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241458	NM_000127.3(EXT1):c.1297A>G (p.Arg433Gly)	EXT1 (R433G)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241448	NM_000127.3(EXT1):c.1295A>G (p.Asp432Gly)	EXT1 (D432G)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 361657	NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)	EXT1 (E413D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3241444	NM_000127.3(EXT1):c.1237G>A (p.Glu413Lys)	EXT1 (E413K)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2445286	NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)	EXT1 (D399V)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 2675189	NM_000127.3(EXT1):c.1187T>G (p.Ile396Ser)	EXT1 (I396S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2136698	NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)	EXT1 (S395C)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2141376	NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)	EXT1 (I393V)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675176	NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)	EXT1 (T392I)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675170	NM_000127.3(EXT1):c.1151G>A (p.Arg384Lys)	EXT1 (R384K)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1423484	NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)	EXT1 (I380V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 134199	NM_000127.3(EXT1):c.1135G>A (p.Val379Ile)	EXT1 (V379I)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2885261	NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)	EXT1 (F333L)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675162	NM_000127.3(EXT1):c.977A>G (p.Glu326Gly)	EXT1 (E326G)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GConflicting classifications of pathogenicity
Select item 1371761	NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)	EXT1 (R325W)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 526302	NM_000127.3(EXT1):c.963-2A>G	EXT1	Single nucleotide variant (splice acceptor variant)	Multiple congenital exostosis	GPathogenic
Select item 2170647	NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)	EXT1 (K321R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 3241441	NM_000127.3(EXT1):c.956A>G (p.Tyr319Cys)	EXT1 (Y319C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675175	NM_000127.3(EXT1):c.923A>G (p.Lys308Arg)	EXT1 (K308R)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675169	NM_000127.3(EXT1):c.914A>G (p.Gln305Arg)	EXT1 (Q305R)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675181	NM_000127.3(EXT1):c.901G>A (p.Gly301Ser)	EXT1 (G301S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 998182	NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	EXT1 (D291E)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GConflicting classifications of pathogenicity
Select item 2675177	NM_000127.3(EXT1):c.775C>T (p.Leu259Phe)	EXT1 (L259F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675160	NM_000127.3(EXT1):c.746G>A (p.Gly249Glu)	EXT1 (G249E)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2730240	NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)	EXT1 (T223I)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 3241451	NM_000127.3(EXT1):c.650_653delinsTTTG (p.Ala217_Lys218delinsValTer)	EXT1	Indel (nonsense)	Chondrosarcoma	GLikely pathogenic
Select item 2169615	NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)	EXT1 (G212A)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675172	NM_000127.3(EXT1):c.596C>A (p.Thr199Asn)	EXT1 (T199N)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1429734	NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)	EXT1 (S197C)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675182	NM_000127.3(EXT1):c.574A>G (p.Ile192Val)	EXT1 (I192V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675164	NM_000127.3(EXT1):c.544C>T (p.His182Tyr)	EXT1 (H182Y)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675151	NM_000127.3(EXT1):c.537G>C (p.Gln179His)	EXT1 (Q179H)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675156	NM_000127.3(EXT1):c.481T>G (p.Leu161Val)	EXT1 (L161V)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675188	NM_000127.3(EXT1):c.439G>T (p.Asp147Tyr)	EXT1 (D147Y)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241447	NM_000127.3(EXT1):c.431A>G (p.Tyr144Cys)	EXT1 (Y144C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 982751	NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)	EXT1 (F143S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2675187	NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)	EXT1 (L135P)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 3241442	NM_000127.3(EXT1):c.359C>A (p.Pro120Gln)	EXT1 (P120Q)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1327107	NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)	EXT1 (P120L)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2036900	NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)	EXT1 (Y119fs)	Deletion (frameshift variant)	Chondrosarcoma +1 more	GPathogenic/Likely pathogenic
Select item 1427094	NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)	EXT1 (K110R)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 1463580	NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)	EXT1 (E101G)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675165	NM_000127.3(EXT1):c.295C>T (p.Arg99Cys)	EXT1 (R99C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 3241454	NM_000127.3(EXT1):c.276C>G (p.Ile92Met)	EXT1 (I92M)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1051518	NM_000127.3(EXT1):c.252G>C (p.Gln84His)	EXT1 (Q84H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GUncertain significance
Select item 2200124	NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)	EXT1 (Q84R)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675167	NM_000127.3(EXT1):c.245C>T (p.Pro82Leu)	EXT1 (P82L)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1432536	NM_000127.3(EXT1):c.238A>G (p.Ile80Val)	EXT1 (I80V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675163	NM_000127.3(EXT1):c.223G>T (p.Asp75Tyr)	EXT1 (D75Y)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 1393207	NM_000127.3(EXT1):c.200C>G (p.Pro67Arg)	EXT1 (P67R)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 1345908	NM_000127.3(EXT1):c.200C>A (p.Pro67His)	EXT1 (P67H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 998181	NM_000127.3(EXT1):c.197T>C (p.Val66Ala)	EXT1 (V66A)	Single nucleotide variant (missense variant)	Multiple congenital exostosis	GUncertain significance
Select item 3241450	NM_000127.3(EXT1):c.190C>G (p.Pro64Ala)	EXT1 (P64A)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675166	NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)	EXT1 (P49R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2675159	NM_000127.3(EXT1):c.131A>G (p.Asn44Ser)	EXT1 (N44S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2445271	NM_000127.3(EXT1):c.106C>T (p.Arg36Trp)	EXT1 (R36W)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GConflicting classifications of pathogenicity
Select item 3241445	NM_000127.3(EXT1):c.78G>T (p.Leu26Phe)	EXT1 (L26F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2178865	NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)	EXT1 (G25R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 3241446	NM_000127.3(EXT1):c.63T>G (p.Phe21Leu)	EXT1 (F21L)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675173	NM_000127.3(EXT1):c.49C>T (p.Leu17Phe)	EXT1 (L17F)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675153	NM_000127.3(EXT1):c.47G>C (p.Cys16Ser)	EXT1 (C16S)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675183	NM_000127.3(EXT1):c.46T>G (p.Cys16Gly)	EXT1 (C16G)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675186	NM_000127.3(EXT1):c.20A>G (p.Tyr7Cys)	EXT1 (Y7C)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 2675184	NM_000127.3(EXT1):c.10A>C (p.Lys4Gln)	EXT1 (K4Q)	Single nucleotide variant (missense variant)	Chondrosarcoma	GUncertain significance
Select item 837149	NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)	EXT1 (Q2*)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 1 +2 more	GPathogenic

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Items: 97