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

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

Links from Gene

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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=)	EXT2, LOC126861201	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)	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 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
Select item 1510156	NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser)	EXT2, LOC126861201 (N528S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1430031	NM_207122.2(EXT2):c.1375A>G (p.Ile459Val)	EXT2, LOC126861201 (I459V +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1423937	NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys)	EXT2, LOC126861201 (G438C +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1412670	NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly)	EXT2, LOC126861201 (S439G +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1402593	NM_207122.2(EXT2):c.1319T>A (p.Val440Glu)	EXT2, LOC126861201 (V450E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1397399	NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser)	EXT2, LOC126861201 (F480S +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1366916	NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu)	EXT2, LOC126861201 (Q462E +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1363572	NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg)	EXT2, LOC126861201 (W489R +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1355391	NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu)	EXT2, LOC126861201 (P529L +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 1335067	NM_207122.2(EXT2):c.1457T>A (p.Leu486His)	EXT2, LOC126861201 (L486H +2 more)	Single nucleotide variant (missense variant)	not provided	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 1324357	NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)	EXT2 (W502* +2 more)	Single nucleotide variant (nonsense)	Exostoses, multiple, type 2 +1 more	GLikely pathogenic
Select item 1321817	NM_207122.2(EXT2):c.-31+106C>T	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319816	NM_207122.2(EXT2):c.1179dup (p.Trp394fs)	EXT2 (W394fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1319682	NM_207122.2(EXT2):c.1996G>T (p.Asp666Tyr)	EXT2 (D666Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1285992	NM_207122.2(EXT2):c.1306-93C>T	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248779	NM_207122.2(EXT2):c.-31+22G>A	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236902	NM_207122.2(EXT2):c.-31+42A>G	EXT2, LOC130005598	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191892	NM_207122.2(EXT2):c.1495+137G>A	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1112693	NM_207122.2(EXT2):c.1495+7dup	EXT2, LOC126861201	Duplication (intron variant)	Exostoses, multiple, type 2	GLikely benign
Select item 1089444	NM_207122.2(EXT2):c.1306-7C>G	EXT2, LOC126861201	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1054549	NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)	LOC126861201, EXT2 (R471Q +2 more)	Single nucleotide variant (missense variant)	EXT2-related disorder +2 more	GUncertain significance
Select item 993803	NM_207122.2(EXT2):c.2084G>A (p.Arg695Gln)	EXT2 (R695Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934810	NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)	EXT2, LOC126861201 (A491T +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 879984	NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)	EXT2, LOC126861201 (D499N +2 more)	Single nucleotide variant (missense variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 879983	NM_207122.2(EXT2):c.1458T>A (p.Leu486=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 878114	NM_207122.2(EXT2):c.-45G>T	EXT2, LOC130005598	Single nucleotide variant (5 prime UTR variant)	Exostoses, multiple, type 2	GUncertain significance
Select item 772306	NM_207122.2(EXT2):c.1341G>A (p.Pro447=)	EXT2, LOC126861201	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign

<< First< Prev

Page of 2