"Baylor Genetics"[submitter] AND "EXT2"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2169909	NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)	EXT2 (R10W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1062097	NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)	EXT2 (A13T +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 878115	NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)	EXT2 (R50K +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 534138	NM_207122.2(EXT2):c.67C>T (p.Arg23Ter)	EXT2 (R23* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2675223	NM_207122.2(EXT2):c.140C>T (p.Pro47Leu)	EXT2 (P47L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675212	NM_207122.2(EXT2):c.148A>G (p.Ile50Val)	EXT2 (I50V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675196	NM_207122.2(EXT2):c.182G>T (p.Arg61Leu)	EXT2 (R61L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675224	NM_207122.2(EXT2):c.190C>T (p.Arg64Cys)	EXT2 (R64C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2140328	NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)	EXT2 (P100L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2675225	NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)	EXT2 (D107N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2073963	NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)	EXT2 (E112G +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1414093	NM_207122.2(EXT2):c.266C>T (p.Thr89Met)	EXT2 (T89M +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675220	NM_207122.2(EXT2):c.281A>G (p.Tyr94Cys)	EXT2 (Y127C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675191	NM_207122.2(EXT2):c.292T>C (p.Phe98Leu)	EXT2 (F131L +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675202	NM_207122.2(EXT2):c.376A>G (p.Ile126Val)	EXT2 (I126V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 788070	NM_207122.2(EXT2):c.382C>T (p.Arg128Trp)	EXT2 (R128W +1 more)	Single nucleotide variant (missense variant)	EXT2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1510270	NM_207122.2(EXT2):c.394G>C (p.Glu132Gln)	EXT2 (E165Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1369711	NM_207122.2(EXT2):c.415G>A (p.Asp139Asn)	EXT2 (D139N +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2191898	NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)	EXT2 (R149Q +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 931287	NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)	EXT2 (N163Y +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1691517	NM_207122.2(EXT2):c.511G>A (p.Ala171Thr)	EXT2 (A171T +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 879930	NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)	EXT2 (R182Q +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675213	NM_207122.2(EXT2):c.593A>C (p.Asp198Ala)	EXT2 (D198A +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1430637	NM_207122.2(EXT2):c.640G>A (p.Gly214Ser)	EXT2 (G247S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 658032	NM_207122.2(EXT2):c.656C>T (p.Thr219Met)	EXT2 (T252M +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 1441831	NM_207122.2(EXT2):c.667C>T (p.Arg223Trp)	EXT2 (R223W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +3 more	GUncertain significance
Select item 2675200	NM_207122.2(EXT2):c.701G>T (p.Ser234Ile)	EXT2 (S234I +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 877126	NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)	EXT2 (R250Q +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1327092	NM_207122.2(EXT2):c.785A>G (p.His262Arg)	EXT2 (H262R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675210	NM_207122.2(EXT2):c.830G>C (p.Gly277Ala)	EXT2 (G277A +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1943931	NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)	EXT2	Duplication (inframe_insertion)	Exostoses, multiple, type 2	GUncertain significance
Select item 1988474	NM_207122.2(EXT2):c.919G>C (p.Asp307His)	EXT2 (D340H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 998352	NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)	EXT2 (R325W +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 997455	NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)	EXT2 (R325Q +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675216	NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)	EXT2 (C339S +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675226	NM_207122.2(EXT2):c.1018G>A (p.Val340Ile)	EXT2 (V340I +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1439910	NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys)	EXT2 (Y381C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675206	NM_207122.2(EXT2):c.1072T>C (p.Trp358Arg)	EXT2 (W358R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675217	NM_207122.2(EXT2):c.1145A>G (p.Gln382Arg)	EXT2 (Q382R +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 970087	NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)	EXT2 (R393W +1 more)	Single nucleotide variant (missense variant +1 more)	EXT2-related disorder +3 more	GUncertain significance
Select item 2675207	NM_207122.2(EXT2):c.1223T>C (p.Leu408Pro)	EXT2 (L408P +1 more)	Single nucleotide variant (missense variant +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 1033292	NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)	EXT2 (A442G +1 more)	Single nucleotide variant (missense variant +1 more)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675215	NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)	EXT2 (W429G +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1319798	NM_207122.2(EXT2):c.1305+2T>C	EXT2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675203	NM_207122.2(EXT2):c.1330C>T (p.Leu444Phe)	EXT2, LOC126861201 (L444F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 580003	NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter)	EXT2, LOC126861201 (R498* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2675214	NM_207122.2(EXT2):c.1411C>T (p.Arg471Trp)	EXT2, LOC126861201 (R471W +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675192	NM_207122.2(EXT2):c.1448C>T (p.Ser483Phe)	EXT2, LOC126861201 (S483F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675195	NM_207122.2(EXT2):c.1454T>C (p.Leu485Pro)	EXT2, LOC126861201 (L485P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675197	NM_207122.2(EXT2):c.1462G>T (p.Val488Phe)	EXT2, LOC126861201 (V488F +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2154521	NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)	EXT2, LOC126861201 (V498I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2675193	NM_207122.2(EXT2):c.1496-1G>C	EXT2	Single nucleotide variant (splice acceptor variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 1370781	NM_207122.2(EXT2):c.1515C>G (p.Ile505Met)	EXT2 (I538M +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675208	NM_207122.2(EXT2):c.1522C>T (p.Pro508Ser)	EXT2 (P508S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675229	NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)	EXT2	Deletion (nonsense)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2675211	NM_207122.2(EXT2):c.1582G>A (p.Glu528Lys)	EXT2 (E528K +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675230	NM_207122.2(EXT2):c.1662+1G>C	EXT2	Single nucleotide variant (splice donor variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2675228	NM_207122.2(EXT2):c.1668G>A (p.Trp556Ter)	EXT2 (W556* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2063227	NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)	EXT2 (R562G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 997469	NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)	EXT2 (R562Q +2 more)	Single nucleotide variant (missense variant)	EXT2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2675218	NM_207122.2(EXT2):c.1712A>C (p.His571Pro)	EXT2 (H571P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 134203	NM_207122.2(EXT2):c.1712A>G (p.His571Arg)	EXT2 (H571R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675221	NM_207122.2(EXT2):c.1733del (p.Asn578fs)	EXT2 (N578fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 1954768	NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)	EXT2 (V603L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675219	NM_207122.2(EXT2):c.1802A>C (p.His601Pro)	EXT2 (H601P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675205	NM_207122.2(EXT2):c.1806+3A>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675198	NM_207122.2(EXT2):c.1835T>C (p.Met612Thr)	EXT2 (M612T +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2675204	NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)	EXT2 (N618K +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2009974	NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)	EXT2 (F633S +2 more)	Indel (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 806648	NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln)	EXT2 (K674Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2675227	NM_207122.2(EXT2):c.1924G>A (p.Ala642Thr)	EXT2 (A642T +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 838313	NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	EXT2 (R682* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2675199	NM_207122.2(EXT2):c.2000A>G (p.Gln667Arg)	EXT2 (Q667R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance

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Items: 73