C0015306[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 35

	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)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 802436	NM_000127.3(EXT1):c.2072G>A (p.Arg691His)	EXT1 (R691H)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 1 +2 more	GUncertain significance
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 856372	NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)	EXT1 (I589V)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2675155	NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)	EXT1 (S563N)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 1912234	NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)	EXT1 (I557T)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 1502859	NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp)	EXT1 (N555D)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 1412617	NM_000127.3(EXT1):c.1504G>A (p.Val502Met)	EXT1 (V502M)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 2143012	NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)	EXT1 (P496S)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
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 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 361657	NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp)	EXT1 (E413D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2445286	NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)	EXT1 (D399V)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +2 more	GConflicting classifications of pathogenicity
Select item 2675176	NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)	EXT1 (T392I)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 1423484	NM_000127.3(EXT1):c.1138A>G (p.Ile380Val)	EXT1 (I380V)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 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 1371761	NM_000127.3(EXT1):c.973C>T (p.Arg325Trp)	EXT1 (R325W)	Single nucleotide variant (missense variant)	Chondrosarcoma +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 998182	NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)	EXT1 (D291E)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
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 1429734	NM_000127.3(EXT1):c.590C>G (p.Ser197Cys)	EXT1 (S197C)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +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 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 1327107	NM_000127.3(EXT1):c.359C>T (p.Pro120Leu)	EXT1 (P120L)	Single nucleotide variant (missense variant)	Chondrosarcoma +1 more	GUncertain significance
Select item 1427094	NM_000127.3(EXT1):c.329A>G (p.Lys110Arg)	EXT1 (K110R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 1463580	NM_000127.3(EXT1):c.302A>G (p.Glu101Gly)	EXT1 (E101G)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 1051518	NM_000127.3(EXT1):c.252G>C (p.Gln84His)	EXT1 (Q84H)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	GUncertain significance
Select item 2200124	NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)	EXT1 (Q84R)	Single nucleotide variant (missense variant)	Multiple congenital exostosis +1 more	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)	Chondrosarcoma +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 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 837149	NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)	EXT1 (Q2*)	Single nucleotide variant (nonsense)	Multiple congenital exostosis +2 more	GPathogenic
Select item 788070	NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)	EXT2 (R128W +1 more)	Single nucleotide variant (missense variant)	Seizures-scoliosis-macrocephaly syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 35