Related gene-specific medical variations for Gene (Select 2132) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360496	NM_207122.2(EXT2):c.50G>C (p.Arg17Thr)	EXT2 (R17T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359100	NM_207122.2(EXT2):c.477_478insATTAACCAGAACACACTGCG (p.Leu160fs)	EXT2 (L160fs +1 more)	Insertion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 3256508	NM_207122.2(EXT2):c.1495+1G>A	EXT2, LOC126861201	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3244623	NC_000011.9:g.(?_44146456)_(44156975_?)del	EXT2	Deletion	Exostoses, multiple, type 2	GPathogenic
Select item 3244622	NC_000011.9:g.(?_44193141)_(44193312_?)dup	EXT2	Duplication	Exostoses, multiple, type 2	GUncertain significance
Select item 3244621	NC_000011.9:g.(?_44129263)_(44130853_?)del	EXT2	Deletion	Exostoses, multiple, type 2	GPathogenic
Select item 3244620	NC_000011.9:g.(?_44135715)_(44135871_?)del	EXT2	Deletion	Exostoses, multiple, type 2	GPathogenic
Select item 3241481	NM_207122.2(EXT2):c.1459GTC[1] (p.Val488del)	LOC126861201, EXT2 (V488del +2 more)	Microsatellite (inframe_deletion)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241480	NM_207122.2(EXT2):c.1262A>G (p.Tyr421Cys)	EXT2 (Y421C +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241479	NM_207122.2(EXT2):c.140C>A (p.Pro47His)	EXT2 (P47H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241478	NM_207122.2(EXT2):c.1985G>T (p.Gly662Val)	EXT2 (G662V +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241477	NM_207122.2(EXT2):c.1397_1401del (p.Val466fs)	EXT2, LOC126861201 (V466fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 3241476	NM_207122.2(EXT2):c.665A>G (p.Tyr222Cys)	EXT2 (Y222C +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241475	NM_207122.2(EXT2):c.1294C>T (p.Pro432Ser)	EXT2 (P432S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241473	NM_207122.2(EXT2):c.679G>T (p.Asp227Tyr)	EXT2 (D227Y +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241472	NM_207122.2(EXT2):c.275A>G (p.Asp92Gly)	EXT2 (D125G +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241471	NM_207122.2(EXT2):c.2072T>A (p.Val691Glu)	EXT2 (V691E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241470	NM_207122.2(EXT2):c.1600G>C (p.Val534Leu)	EXT2 (V534L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241469	NM_207122.2(EXT2):c.566T>C (p.Phe189Ser)	EXT2 (F189S +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241468	NM_207122.2(EXT2):c.761T>A (p.Leu254His)	EXT2 (L254H +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241467	NM_207122.2(EXT2):c.2133C>G (p.Ser711Arg)	EXT2 (S711R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241466	NM_207122.2(EXT2):c.1888G>C (p.Ala630Pro)	EXT2 (A630P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241465	NM_207122.2(EXT2):c.971C>T (p.Ala324Val)	EXT2 (A324V +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241464	NM_207122.2(EXT2):c.1825A>G (p.Thr609Ala)	EXT2 (T609A +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241463	NM_207122.2(EXT2):c.98T>A (p.Val33Asp)	EXT2 (V33D +1 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241462	NM_207122.2(EXT2):c.1538G>A (p.Arg513Lys)	EXT2 (R513K +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241461	NM_207122.2(EXT2):c.1591A>C (p.Thr531Pro)	EXT2 (T531P +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241460	NM_207122.2(EXT2):c.1486C>G (p.Pro496Ala)	EXT2, LOC126861201 (P496A +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3241459	NM_207122.2(EXT2):c.1543G>T (p.Ala515Ser)	EXT2 (A515S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3063217	GRCh37/hg19 11p11.2(chr11:44146329-44221748)x3	EXT2	Copy number gain	not specified	GUncertain significance
Select item 3029477	NM_207122.2(EXT2):c.1422T>G (p.Thr474=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	EXT2-related disorder	GLikely benign
Select item 3016391	NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)	EXT2, LOC126861201 (I469T +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 3004756	NM_207122.2(EXT2):c.1306-8T>C	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2969320	NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)	EXT2, LOC126861201 (T467N +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2914481	NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)	EXT2, LOC126861201 (R498Q +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2 +1 more	GUncertain significance
Select item 2913422	NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)	EXT2, LOC126861201 (V512E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2892395	NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)	EXT2, LOC126861201 (P447L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2887005	NM_207122.2(EXT2):c.1353A>G (p.Pro451=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2885845	NM_207122.2(EXT2):c.1449C>T (p.Ser483=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2849010	NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)	EXT2, LOC126861201 (P480S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2845851	NM_207122.2(EXT2):c.1306-14C>A	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2810195	NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)	EXT2, LOC126861201 (K469N +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 2809881	NM_207122.2(EXT2):c.1484del (p.Asn495fs)	EXT2, LOC126861201 (N495fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2718279	NM_207122.2(EXT2):c.1392C>T (p.Asp464=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2675229	NM_207122.2(EXT2):c.1534del (p.Val511_Val512insTer)	EXT2	Deletion (nonsense)	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 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 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 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 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 2675221	NM_207122.2(EXT2):c.1733del (p.Asn578fs)	EXT2 (N578fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 2675205	NM_207122.2(EXT2):c.1806+3A>C	EXT2	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GUncertain significance
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 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 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
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 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 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 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 2675193	NM_207122.2(EXT2):c.1496-1G>C	EXT2	Single nucleotide variant (splice acceptor variant)	Exostoses, multiple, type 2	GLikely pathogenic
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 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 2584740	NM_207122.2(EXT2):c.1812del (p.Phe604fs)	EXT2 (F604fs +2 more)	Deletion (frameshift variant)	Exostoses, multiple, type 2	GPathogenic
Select item 2445407	NM_207122.2(EXT2):c.-31+465A>G	EXT2 (D22G)	Single nucleotide variant (missense variant +2 more)	Ovarian cancer	GBenign
Select item 2445399	NM_207122.2(EXT2):c.2005C>T (p.His669Tyr)	EXT2 (H669Y +2 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445372	NM_207122.2(EXT2):c.1171C>A (p.Gln391Lys)	EXT2 (Q391K +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445343	NM_207122.2(EXT2):c.655A>G (p.Thr219Ala)	EXT2 (T219A +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2441310	NM_207122.2(EXT2):c.1301C>T (p.Ala434Val)	EXT2 (A434V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440120	NM_207122.2(EXT2):c.93del (p.Ile32fs)	EXT2 (I32fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2436085	NM_207122.2(EXT2):c.678C>G (p.Tyr226Ter)	EXT2 (Y226* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2413861	NM_207122.2(EXT2):c.1342C>T (p.Leu448=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2257668	NM_207122.2(EXT2):c.1480A>G (p.Lys494Glu)	EXT2, LOC126861201 (K527E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199540	NM_207122.2(EXT2):c.1344G>A (p.Leu448=)	LOC126861201, EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2196307	NM_207122.2(EXT2):c.1308G>A (p.Lys436=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2172378	NM_207122.2(EXT2):c.1495+12T>C	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2166159	NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)	EXT2, LOC126861201 (P443L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2154210	NM_207122.2(EXT2):c.1489_1495+12del	EXT2, LOC126861201	Deletion (splice donor variant)	Exostoses, multiple, type 2	GLikely pathogenic
Select item 2142770	NM_207122.2(EXT2):c.1371C>T (p.Thr457=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2141088	NM_207122.2(EXT2):c.1306-14C>T	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 2010310	NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)	EXT2, LOC126861201 (G465R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1939036	NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)	EXT2, LOC126861201 (W489S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1925620	NM_207122.2(EXT2):c.1350A>G (p.Pro450=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1647818	NM_207122.2(EXT2):c.1306-13T>C	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1625970	NM_207122.2(EXT2):c.1425A>G (p.Glu475=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2 +1 more	GBenign/Likely benign
Select item 1571482	NM_207122.2(EXT2):c.1461C>T (p.Val487=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1563529	NM_207122.2(EXT2):c.1440C>T (p.Pro480=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1549164	NM_207122.2(EXT2):c.1338C>T (p.Leu446=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1535443	NM_207122.2(EXT2):c.1389C>T (p.Tyr463=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1534718	NM_207122.2(EXT2):c.1495+9C>G	EXT2, LOC126861201	Single nucleotide variant (intron variant)	Exostoses, multiple, type 2	GLikely benign

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