ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by Invitae

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 715
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_001211.6(BUB1B):c.2210T>G (p.Leu737Ter) rs759242053 0.00004
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) rs587783037 0.00002
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln) rs587779888 0.00002
NM_000057.4(BLM):c.670C>T (p.Gln224Ter) rs918752814 0.00002
NM_001211.6(BUB1B):c.199C>T (p.Arg67Ter) rs200884355 0.00002
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter) rs769350713 0.00002
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964 0.00001
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter) rs1400231534 0.00001
NM_000057.4(BLM):c.2488dup (p.Thr830fs) rs367543019 0.00001
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs) rs367543024 0.00001
NM_000057.4(BLM):c.3281C>A (p.Ser1094Ter) rs1472603091 0.00001
NM_000057.4(BLM):c.3667dup (p.Thr1223fs) rs1057517154 0.00001
NM_000057.4(BLM):c.3727dup (p.Thr1243fs) rs367543021 0.00001
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln) rs886041516 0.00001
NM_001211.6(BUB1B):c.1648C>T (p.Arg550Ter) rs767213728 0.00001
NM_001211.6(BUB1B):c.2308C>T (p.Arg770Ter) rs750364303 0.00001
NM_001211.6(BUB1B):c.2441G>A (p.Arg814His) rs28989182 0.00001
NM_001211.6(BUB1B):c.580C>T (p.Arg194Ter) rs28989186 0.00001
NM_001211.6(BUB1B):c.595C>T (p.Arg199Ter) rs1403423766 0.00001
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter) rs1399711421 0.00001
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) rs771182933 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NC_000002.11:g.(?_148730288)_(149270510_?)del
NC_000002.11:g.(?_149216328)_(149221508_?)dup
NC_000002.11:g.(?_149216328)_(149228050_?)del
NC_000002.11:g.(?_200136914)_(200320780_?)del
NC_000002.11:g.(?_200173463)_(200320760_?)del
NC_000002.12:g.(?_148458739)_(148463939_?)del
NC_000002.12:g.(?_148458739)_(148512961_?)del
NC_000002.12:g.(?_148458759)_(148512941_?)del
NC_000002.12:g.(?_199348681)_(199433534_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000005.10:g.(?_88722584)_(88823808_?)del
NC_000005.10:g.(?_88804588)_(88884466_?)del
NC_000005.10:g.88731902del
NC_000005.9:g.(?_176289625)_(177151363_?)del
NC_000005.9:g.(?_176638041)_(176722460_?)del
NC_000005.9:g.(?_176720813)_(176722460_?)del
NC_000005.9:g.(?_87776690)_(88119605_?)del
NC_000005.9:g.(?_88027526)_(88027738_?)del
NC_000005.9:g.(?_88047654)_(88047880_?)del
NC_000005.9:g.(?_88056982)_(88119605_?)del
NC_000005.9:g.(?_88100395)_(88100638_?)del
NC_000005.9:g.(?_88100395)_(88119605_?)del
NC_000011.10:g.(?_32389048)_(32435355_?)del
NC_000011.10:g.(?_32389058)_(32435345_?)del
NC_000011.10:g.(?_32396247)_(32400054_?)del
NC_000011.10:g.(?_32396251)_(32417660_?)del
NC_000011.10:g.(?_32434690)_(32435345_?)del
NC_000011.10:g.32396408del rs2132942367
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_32410604)_(32460464_?)del
NC_000011.9:g.(?_32421484)_(32421600_?)del
NC_000011.9:g.(?_32456236)_(32460464_?)del
NC_000011.9:g.(?_95523863)_(95564420_?)del
NC_000015.10:g.(?_90747383)_(90751956_?)del
NC_000015.10:g.(?_90747393)_(90815279_?)del
NC_000015.10:g.(?_90749357)_(90765424_?)del
NC_000015.10:g.(?_90754801)_(90754948_?)del
NC_000015.10:g.(?_90769123)_(90769596_?)del
NC_000015.10:g.(?_90782812)_(90785091_?)del
NC_000015.10:g.(?_90790639)_(90790854_?)del
NC_000015.10:g.(?_90790643)_(90790850_?)del
NC_000015.10:g.(?_90811195)_(90811416_?)del
NC_000015.9:g.(?_40453422)_(40457417_?)del
NC_000015.9:g.(?_91290613)_(91312826_?)del
NC_000015.9:g.(?_91290613)_(91354646_?)del
NC_000015.9:g.(?_91290623)_(91290730_?)del
NC_000015.9:g.(?_91290623)_(91298188_?)del
NC_000015.9:g.(?_91295007)_(91295186_?)del
NC_000015.9:g.(?_91326032)_(91326178_?)del
NC_000015.9:g.(?_91333859)_(91334094_?)del
NC_000015.9:g.(?_91341410)_(91341577_?)del
NC_000022.10:g.(?_18900668)_(19747220_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748454)_19748649del
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NM_000057.4(BLM):c.1003_1006dup (p.Ser336delinsThrTer) rs1057517359
NM_000057.4(BLM):c.1043dup (p.Met348fs) rs1567038003
NM_000057.4(BLM):c.1051C>T (p.Gln351Ter)
NM_000057.4(BLM):c.1083_1084del (p.Cys361_Asp362delinsTer) rs1057517030
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1093C>T (p.Gln365Ter)
NM_000057.4(BLM):c.1093_1096del (p.Arg364_Gln365insTer) rs2151157115
NM_000057.4(BLM):c.1129del (p.Glu377fs) rs1555419710
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1176dup (p.Leu393fs) rs1358266880
NM_000057.4(BLM):c.1180_1181del (p.Leu394fs) rs758132052
NM_000057.4(BLM):c.1195G>T (p.Glu399Ter)
NM_000057.4(BLM):c.1204dup (p.Gln402fs)
NM_000057.4(BLM):c.1220+3A>G rs1429490877
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr) rs1350192744
NM_000057.4(BLM):c.1231_1232delinsTA (p.Leu411Ter)
NM_000057.4(BLM):c.1237G>T (p.Glu413Ter) rs887921909
NM_000057.4(BLM):c.1237_1240del (p.Thr412_Glu413insTer)
NM_000057.4(BLM):c.124_127del (p.Ser42fs)
NM_000057.4(BLM):c.1254_1255del (p.Lys418_Ser419insTer) rs1895946786
NM_000057.4(BLM):c.1255del (p.Ser419fs) rs1895946786
NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter) rs749512704
NM_000057.4(BLM):c.1290C>A (p.Tyr430Ter)
NM_000057.4(BLM):c.1295dup (p.Pro432_Asp433insTer) rs1555419806
NM_000057.4(BLM):c.1316del (p.Met439fs) rs1555419829
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1358T>G (p.Leu453Ter) rs730881428
NM_000057.4(BLM):c.1361del (p.Asn454fs) rs2151158091
NM_000057.4(BLM):c.1374del (p.Ser460fs)
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1410_1413del (p.Thr471fs) rs2151158165
NM_000057.4(BLM):c.1427del (p.Lys476fs)
NM_000057.4(BLM):c.1429_1432del (p.Thr477fs) rs1555419873
NM_000057.4(BLM):c.1430_1431del (p.Thr477fs)
NM_000057.4(BLM):c.1440dup (p.Ala481fs) rs1596229894
NM_000057.4(BLM):c.1450A>T (p.Lys484Ter)
NM_000057.4(BLM):c.1462G>T (p.Glu488Ter) rs1477193473
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1487del (p.Leu496fs) rs2151158316
NM_000057.4(BLM):c.1489C>T (p.Gln497Ter) rs2151158321
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1537A>T (p.Lys513Ter)
NM_000057.4(BLM):c.1544del (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1546G>T (p.Glu516Ter) rs1596230118
NM_000057.4(BLM):c.1549dup (p.Ser517fs) rs1555419902
NM_000057.4(BLM):c.1565del (p.Gly522fs) rs1895965271
NM_000057.4(BLM):c.1603A>T (p.Lys535Ter)
NM_000057.4(BLM):c.1622del (p.Asn541fs)
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1628T>G (p.Leu543Ter) rs367543038
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs) rs1205301894
NM_000057.4(BLM):c.1641_1642insAGAAAGAGAAACCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA (p.Gln548delinsArgLysArgAsnProAlaGlyArgGlyGlySerArgLeuTer) rs2151158659
NM_000057.4(BLM):c.1642_1643insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAGAGAAACCC (p.Gln548delinsArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProGlyTer) rs2151158629
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter) rs1356090839
NM_000057.4(BLM):c.1720_1735del (p.Ala575fs) rs1057516361
NM_000057.4(BLM):c.1732A>T (p.Lys578Ter) rs2151158869
NM_000057.4(BLM):c.1752del (p.Gln585fs) rs1555419961
NM_000057.4(BLM):c.1763del (p.Lys588fs)
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1765del (p.Glu589fs)
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter) rs138943954
NM_000057.4(BLM):c.1794_1797del (p.Glu598fs) rs2151158979
NM_000057.4(BLM):c.1805C>A (p.Ser602Ter)
NM_000057.4(BLM):c.1817_1818insGT (p.Asp606fs)
NM_000057.4(BLM):c.1820_1821insCTTCCAGTGTCTGGAAGTAGATGACACT (p.Leu608fs) rs2151159067
NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)
NM_000057.4(BLM):c.1832C>G (p.Ser611Ter)
NM_000057.4(BLM):c.1864_1865del (p.Ser622fs) rs2151159180
NM_000057.4(BLM):c.1865C>G (p.Ser622Ter)
NM_000057.4(BLM):c.1889C>G (p.Ser630Ter) rs2151160492
NM_000057.4(BLM):c.1894C>T (p.Gln632Ter)
NM_000057.4(BLM):c.1921del (p.His641fs)
NM_000057.4(BLM):c.1928del (p.Arg643fs) rs2151160567
NM_000057.4(BLM):c.196_197insCTCTTTTCTAAGGAAGGCAAAACAAAAGCATTTAAAAACTAATTTAATTAAGGTTAAAAATTCATCTGCCGCTGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAATAAAGATGTTA (p.Asn66delinsThrLeuPheTer)
NM_000057.4(BLM):c.1977del (p.His660fs)
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.1991_1992insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCNNNNNNNNNNACGGGTCGCTGGCGTTGAGCCGCTTTTGCCCCACTCACGTCCGCCGTCCCCCCGGGGCTACACAGCCATAAACCTACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGG (p.Leu665fs)
NM_000057.4(BLM):c.2020G>T (p.Glu674Ter)
NM_000057.4(BLM):c.2054_2055del (p.Cys685fs)
NM_000057.4(BLM):c.2074+5G>A rs587779880
NM_000057.4(BLM):c.2078del (p.Gly693fs) rs1896091563
NM_000057.4(BLM):c.2079_2080del (p.Gly693_Gly694insTer)
NM_000057.4(BLM):c.2093_2096dup (p.Tyr699Ter) rs753973474
NM_000057.4(BLM):c.2097C>A (p.Tyr699Ter) rs1896092339
NM_000057.4(BLM):c.2112_2122del (p.Cys704fs)
NM_000057.4(BLM):c.2131_2132del (p.Val711fs) rs2151162445
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2160_2163dup (p.Asp722fs) rs2151162486
NM_000057.4(BLM):c.2167C>T (p.Gln723Ter) rs2151162501
NM_000057.4(BLM):c.2186_2187del (p.Ser729fs)
NM_000057.4(BLM):c.2187del (p.Leu730fs)
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2206_2207insTAGA (p.Tyr736fs) rs2151163791
NM_000057.4(BLM):c.2206dup (p.Tyr736fs) rs886051551
NM_000057.4(BLM):c.2208T>G (p.Tyr736Ter)
NM_000057.4(BLM):c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) rs1596235791
NM_000057.4(BLM):c.2209C>A (p.Leu737Met)
NM_000057.4(BLM):c.2221A>T (p.Lys741Ter) rs1896146578
NM_000057.4(BLM):c.2225del (p.Thr742fs)
NM_000057.4(BLM):c.2242_2255del (p.Asn748fs)
NM_000057.4(BLM):c.2268del (p.Asp757fs) rs747341586
NM_000057.4(BLM):c.227del (p.Pro76fs) rs1299272913
NM_000057.4(BLM):c.2281_2291del (p.Lys761fs) rs2151163995
NM_000057.4(BLM):c.2284del (p.Leu762fs) rs2151164000
NM_000057.4(BLM):c.2291_2292del (p.Tyr764fs) rs1555420602
NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter) rs2151164019
NM_000057.4(BLM):c.230dup (p.Pro78fs)
NM_000057.4(BLM):c.2324_2325del (p.Arg775fs)
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2353_2354insTT (p.Glu785fs) rs1567045130
NM_000057.4(BLM):c.2385del (p.Asp795fs) rs2151165798
NM_000057.4(BLM):c.2404C>T (p.Gln802Ter) rs2151165848
NM_000057.4(BLM):c.2404_2407del (p.Gln802fs) rs1567045235
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2409G>A (p.Trp803Ter) rs1896235438
NM_000057.4(BLM):c.2410G>T (p.Gly804Ter) rs1412341951
NM_000057.4(BLM):c.2411del (p.Gly804fs) rs2151166065
NM_000057.4(BLM):c.2420_2424del (p.Phe807fs)
NM_000057.4(BLM):c.2448del (p.Met816fs) rs1896237929
NM_000057.4(BLM):c.2449_2450insCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCCCTCTCCCGGCGCGCGCTCGCGCTCCCGTGGCCGGGTGCCGCTCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATGAATATGC (p.Leu817fs)
NM_000057.4(BLM):c.2456del (p.Gln819fs)
NM_000057.4(BLM):c.2493del (p.Thr832fs) rs2151166250
NM_000057.4(BLM):c.2506del (p.Arg836fs) rs1567045531
NM_000057.4(BLM):c.2510_2513dup (p.Gln838fs)
NM_000057.4(BLM):c.2539del (p.Ile847fs) rs770751979
NM_000057.4(BLM):c.2559del (p.Phe853fs) rs2151178019
NM_000057.4(BLM):c.2579del (p.His860fs) rs2151178044
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2592C>G (p.Tyr864Ter) rs1896651394
NM_000057.4(BLM):c.2594_2598del (p.Tyr865fs)
NM_000057.4(BLM):c.2595T>A (p.Tyr865Ter) rs1060503989
NM_000057.4(BLM):c.2620del (p.Val874fs)
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter) rs367543039
NM_000057.4(BLM):c.2664T>A (p.Tyr888Ter)
NM_000057.4(BLM):c.2721dup (p.Leu908fs)
NM_000057.4(BLM):c.2725C>T (p.Gln909Ter) rs1456964727
NM_000057.4(BLM):c.2781del (p.Asp928fs)
NM_000057.4(BLM):c.2791C>T (p.Gln931Ter)
NM_000057.4(BLM):c.2791_2801del (p.Gln931fs)
NM_000057.4(BLM):c.2794C>T (p.Gln932Ter) rs2151179928
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.2818dup (p.Cys940fs) rs2151179952
NM_000057.4(BLM):c.2851_2857del (p.Met951fs) rs1309932713
NM_000057.4(BLM):c.2868_2869insTCCG (p.Asp957fs)
NM_000057.4(BLM):c.2875C>T (p.Arg959Ter) rs762354041
NM_000057.4(BLM):c.28C>T (p.Gln10Ter)
NM_000057.4(BLM):c.2900del (p.Pro967fs) rs2151184555
NM_000057.4(BLM):c.2917del (p.Tyr973fs) rs2151184585
NM_000057.4(BLM):c.2923C>T (p.Gln975Ter)
NM_000057.4(BLM):c.2923del (p.Gln975fs) rs367543014
NM_000057.4(BLM):c.2926G>T (p.Glu976Ter)
NM_000057.4(BLM):c.2957del (p.Ile986fs)
NM_000057.4(BLM):c.2980del (p.Thr994fs) rs1164844135
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.2991_2995del (p.Val998fs) rs2151184718
NM_000057.4(BLM):c.299dup (p.Arg101fs)
NM_000057.4(BLM):c.3007A>T (p.Arg1003Ter)
NM_000057.4(BLM):c.3011_3012del (p.Leu1004fs) rs2151184759
NM_000057.4(BLM):c.3016_3017del (p.Met1006fs) rs1555423119
NM_000057.4(BLM):c.301_304del (p.Arg101fs) rs1489224386
NM_000057.4(BLM):c.3026_3041dup (p.His1014fs)
NM_000057.4(BLM):c.3068del (p.Leu1023fs)
NM_000057.4(BLM):c.3069del (p.Leu1023fs)
NM_000057.4(BLM):c.3079_3080del (p.Val1027fs)
NM_000057.4(BLM):c.3087C>G (p.Tyr1029Ter) rs1896974524
NM_000057.4(BLM):c.3095dup (p.Asn1032fs)
NM_000057.4(BLM):c.3102_3103delinsAT (p.Glu1035Ter)
NM_000057.4(BLM):c.3118C>T (p.Gln1040Ter)
NM_000057.4(BLM):c.3125del (p.Leu1042fs) rs1896976755
NM_000057.4(BLM):c.3145G>T (p.Gly1049Ter) rs1188753950
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3171_3172insT (p.His1058fs)
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs) rs1555423753
NM_000057.4(BLM):c.3261del (p.Phe1087fs) rs1319786857
NM_000057.4(BLM):c.3278C>G (p.Ser1093Ter) rs367543017
NM_000057.4(BLM):c.3299del (p.Ile1100fs)
NM_000057.4(BLM):c.3305_3306del (p.His1102fs) rs1057516253
NM_000057.4(BLM):c.3367_3368del (p.Ser1123fs) rs2151194158
NM_000057.4(BLM):c.3379C>T (p.Gln1127Ter) rs1897212605
NM_000057.4(BLM):c.3437_3438del (p.Leu1145_Phe1146insTer)
NM_000057.4(BLM):c.3467del (p.Asp1156fs)
NM_000057.4(BLM):c.3475_3476del (p.Leu1159fs) rs367543033
NM_000057.4(BLM):c.3496C>T (p.Gln1166Ter) rs1596267627
NM_000057.4(BLM):c.3499del (p.Ala1167fs) rs1555424305
NM_000057.4(BLM):c.3508del (p.Tyr1170fs) rs1555424311
NM_000057.4(BLM):c.3510T>A (p.Tyr1170Ter)
NM_000057.4(BLM):c.3535del (p.Thr1179fs)
NM_000057.4(BLM):c.3558+1G>A rs148969222
NM_000057.4(BLM):c.3558+2T>C rs1897222054
NM_000057.4(BLM):c.3564del (p.Phe1189fs) rs1486692931
NM_000057.4(BLM):c.3566_3567del (p.Phe1189fs) rs1555424372
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.3577_3578del (p.Glu1193fs)
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3589del (p.Ser1197fs) rs1555424376
NM_000057.4(BLM):c.358_359dup (p.Thr121fs)
NM_000057.4(BLM):c.3611T>G (p.Leu1204Ter)
NM_000057.4(BLM):c.3611del (p.Ala1203_Leu1204insTer)
NM_000057.4(BLM):c.3616del (p.Ala1206fs) rs2151194859
NM_000057.4(BLM):c.3628C>T (p.Gln1210Ter)
NM_000057.4(BLM):c.3634G>T (p.Glu1212Ter) rs1897234496
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3646A>T (p.Lys1216Ter) rs2151194897
NM_000057.4(BLM):c.3678C>A (p.Cys1226Ter) rs1897236255
NM_000057.4(BLM):c.3681dup (p.Ser1228fs) rs367543020
NM_000057.4(BLM):c.3692_3693del (p.Lys1231fs) rs1234064430
NM_000057.4(BLM):c.3737_3738del (p.Leu1246fs) rs1897238597
NM_000057.4(BLM):c.3753del (p.Glu1251fs) rs1275708646
NM_000057.4(BLM):c.3755_3758del (p.Ser1252fs) rs2151198261
NM_000057.4(BLM):c.3758T>G (p.Leu1253Ter) rs2151198266
NM_000057.4(BLM):c.375_376del (p.Pro126fs) rs1895612617
NM_000057.4(BLM):c.3779T>A (p.Leu1260Ter)
NM_000057.4(BLM):c.3784C>T (p.Gln1262Ter)
NM_000057.4(BLM):c.3839C>G (p.Ser1280Ter)
NM_000057.4(BLM):c.3845del (p.Leu1282fs) rs1897350204
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter) rs367543031
NM_000057.4(BLM):c.3854_3857del (p.Tyr1285fs) rs2151198369
NM_000057.4(BLM):c.3860_3863del (p.Glu1287fs) rs2151198382
NM_000057.4(BLM):c.3863G>A (p.Trp1288Ter) rs2151198389
NM_000057.4(BLM):c.3864G>A (p.Trp1288Ter) rs2151198391
NM_000057.4(BLM):c.3869del (p.Ser1290fs) rs2151198402
NM_000057.4(BLM):c.3890del (p.Pro1297fs) rs1555425062
NM_000057.4(BLM):c.390del (p.Lys130fs) rs2151147261
NM_000057.4(BLM):c.3960dup (p.Val1321fs) rs1567066891
NM_000057.4(BLM):c.3991A>T (p.Arg1331Ter)
NM_000057.4(BLM):c.4002_4003delinsAT (p.Lys1335Ter)
NM_000057.4(BLM):c.4027C>T (p.Gln1343Ter) rs2151199939
NM_000057.4(BLM):c.440_443del (p.Asp146_Ser147insTer) rs1895617043
NM_000057.4(BLM):c.461G>A (p.Trp154Ter)
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.487del (p.Ser163fs)
NM_000057.4(BLM):c.497C>G (p.Ser166Ter) rs896357448
NM_000057.4(BLM):c.511dup (p.Thr171fs)
NM_000057.4(BLM):c.522_523del (p.His176fs)
NM_000057.4(BLM):c.557C>A (p.Ser186Ter)
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer) rs367543035
NM_000057.4(BLM):c.566del (p.Gly189fs) rs2151147614
NM_000057.4(BLM):c.572_573del (p.Arg191fs) rs2151147628
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) rs367543026
NM_000057.4(BLM):c.582_595del (p.Phe194fs)
NM_000057.4(BLM):c.583A>T (p.Lys195Ter) rs2151147654
NM_000057.4(BLM):c.589C>T (p.Gln197Ter) rs2151147666
NM_000057.4(BLM):c.604_607del (p.Asn202fs) rs774777021
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.619del (p.Asp207fs) rs1596218981
NM_000057.4(BLM):c.623del (p.Leu208fs) rs2151147765
NM_000057.4(BLM):c.623dup (p.Leu208fs)
NM_000057.4(BLM):c.638_639del (p.Ser212_Ser213insTer)
NM_000057.4(BLM):c.646G>T (p.Glu216Ter)
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.700_710del (p.Asp234fs) rs2151147969
NM_000057.4(BLM):c.700_713del (p.Asp234fs) rs1567035745
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.729del (p.Ile243fs)
NM_000057.4(BLM):c.74T>G (p.Leu25Ter) rs1895534883
NM_000057.4(BLM):c.757del (p.Gln253fs) rs2151148137
NM_000057.4(BLM):c.75_78del (p.Leu25fs)
NM_000057.4(BLM):c.760G>T (p.Glu254Ter) rs181892828
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000057.4(BLM):c.77_87del (p.Ser26fs)
NM_000057.4(BLM):c.789dup (p.Asp264fs) rs2151148207
NM_000057.4(BLM):c.811_815del (p.Lys271fs)
NM_000057.4(BLM):c.814A>T (p.Lys272Ter)
NM_000057.4(BLM):c.826del (p.Glu276fs) rs2151149553
NM_000057.4(BLM):c.829G>T (p.Glu277Ter) rs1596221020
NM_000057.4(BLM):c.835G>T (p.Glu279Ter) rs1567036566
NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer) rs1567036579
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000057.4(BLM):c.83del (p.Leu27_Ser28insTer) rs2151145092
NM_000057.4(BLM):c.842del (p.His281fs) rs1895692863
NM_000057.4(BLM):c.855del (p.Val286fs) rs2151149598
NM_000057.4(BLM):c.864del (p.Pro287_Cys288insTer)
NM_000057.4(BLM):c.919G>T (p.Glu307Ter) rs766386787
NM_000057.4(BLM):c.97dup (p.Ser33fs)
NM_000057.4(BLM):c.98+1G>A rs750293380
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000057.4(BLM):c.982del (p.Ser328fs)
NM_000057.4(BLM):c.984del (p.Asp329fs) rs2151152104
NM_000057.4(BLM):c.991_995del (p.Lys331fs) rs786204524
NM_000057.4(BLM):c.993del (p.Glu332fs) rs2151152131
NM_001172509.2(SATB2):c.1019del (p.Leu340fs)
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu) rs1247886882
NM_001172509.2(SATB2):c.1187A>G (p.Glu396Gly) rs1688108235
NM_001172509.2(SATB2):c.1204G>A (p.Glu402Lys)
NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter) rs886041847
NM_001172509.2(SATB2):c.1329_1347dup (p.Ser450fs) rs1688101934
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1481_1491del (p.Glu494fs)
NM_001172509.2(SATB2):c.1569G>A (p.Trp523Ter)
NM_001172509.2(SATB2):c.1592dup (p.Asn531fs) rs1553544158
NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys) rs1064795530
NM_001172509.2(SATB2):c.2002_2021del (p.Tyr668fs) rs1692186575
NM_001172509.2(SATB2):c.282_289dup (p.Val97fs) rs2105928888
NM_001172509.2(SATB2):c.318T>G (p.Tyr106Ter) rs1330378388
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter) rs1559052032
NM_001172509.2(SATB2):c.346+1G>A rs2105928782
NM_001172509.2(SATB2):c.346+2T>A rs1559052017
NM_001172509.2(SATB2):c.346G>A (p.Gly116Arg)
NM_001172509.2(SATB2):c.554del (p.Glu185fs) rs2105865877
NM_001172509.2(SATB2):c.562C>T (p.Gln188Ter) rs1391758713
NM_001172509.2(SATB2):c.588_595del (p.Leu197fs) rs2105865785
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_001172509.2(SATB2):c.75dup (p.Pro26fs)
NM_001172509.2(SATB2):c.762_765dup (p.Pro256fs)
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter) rs797044874
NM_001211.6(BUB1B):c.1141del (p.Arg381fs)
NM_001211.6(BUB1B):c.1198A>T (p.Lys400Ter)
NM_001211.6(BUB1B):c.1298T>A (p.Leu433Ter) rs2140900203
NM_001211.6(BUB1B):c.1302del (p.Ser435fs)
NM_001211.6(BUB1B):c.1313_1317del (p.Lys438fs)
NM_001211.6(BUB1B):c.1378C>T (p.Gln460Ter)
NM_001211.6(BUB1B):c.1387A>T (p.Arg463Ter) rs1566824608
NM_001211.6(BUB1B):c.1441C>T (p.Gln481Ter) rs2140900615
NM_001211.6(BUB1B):c.1466_1470dup (p.Gly491fs) rs2140900652
NM_001211.6(BUB1B):c.1663C>T (p.Arg555Ter)
NM_001211.6(BUB1B):c.169C>T (p.Gln57Ter) rs2140878554
NM_001211.6(BUB1B):c.1743del (p.Phe581fs)
NM_001211.6(BUB1B):c.1906del (p.Glu636fs) rs2140904074
NM_001211.6(BUB1B):c.1954C>T (p.Gln652Ter) rs1401171363
NM_001211.6(BUB1B):c.2153del (p.Thr718fs)
NM_001211.6(BUB1B):c.2208_2211dup (p.Ser738fs) rs1392909108
NM_001211.6(BUB1B):c.2210del (p.Glu736_Leu737insTer) rs2140906206
NM_001211.6(BUB1B):c.2298C>G (p.Tyr766Ter)
NM_001211.6(BUB1B):c.2316C>G (p.Tyr772Ter) rs1595533765
NM_001211.6(BUB1B):c.2334C>G (p.Tyr778Ter) rs2037693105
NM_001211.6(BUB1B):c.2363_2364del (p.Ser788fs) rs756459860
NM_001211.6(BUB1B):c.2478T>G (p.Tyr826Ter) rs2037728032
NM_001211.6(BUB1B):c.2566del (p.His856fs) rs749762155
NM_001211.6(BUB1B):c.2848C>T (p.Gln950Ter)
NM_001211.6(BUB1B):c.2876T>G (p.Leu959Ter) rs2140912326
NM_001211.6(BUB1B):c.2896A>T (p.Lys966Ter)
NM_001211.6(BUB1B):c.310del (p.Arg104fs)
NM_001211.6(BUB1B):c.358C>T (p.Arg120Ter) rs2037151440
NM_001211.6(BUB1B):c.422dup (p.Tyr141Ter) rs1455613910
NM_001211.6(BUB1B):c.578del (p.His193fs) rs1179465577
NM_001211.6(BUB1B):c.693_694insTT (p.Ser232fs) rs2037326125
NM_001211.6(BUB1B):c.709_712del (p.Thr237fs) rs992789522
NM_001211.6(BUB1B):c.799C>T (p.Gln267Ter) rs746135465
NM_001211.6(BUB1B):c.871del (p.Thr291fs)
NM_001211.6(BUB1B):c.877C>T (p.Gln293Ter) rs2140890776
NM_001211.6(BUB1B):c.897del (p.Met300fs)
NM_001211.6(BUB1B):c.897dup (p.Met300fs)
NM_001211.6(BUB1B):c.925C>T (p.Gln309Ter) rs2037346846
NM_001211.6(BUB1B):c.94_95insGCTCTCCCTCTCCCTCTCCCGCTCCCGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAAATGTACAACCTT (p.Leu32fs)
NM_001378120.1(MBD5):c.1000del (p.Gln334fs) rs1574459612
NM_001378120.1(MBD5):c.1025dup (p.Ser343fs) rs1553518511
NM_001378120.1(MBD5):c.1188del (p.Met396fs) rs2105630210
NM_001378120.1(MBD5):c.1379C>A (p.Ser460Ter) rs878910680
NM_001378120.1(MBD5):c.143del (p.Glu48fs) rs2105571301
NM_001378120.1(MBD5):c.1449del (p.Ser484fs) rs2105633124
NM_001378120.1(MBD5):c.1499_1500dup (p.Arg501fs) rs2105633619
NM_001378120.1(MBD5):c.1648del (p.Ser550fs) rs2105635449
NM_001378120.1(MBD5):c.1759C>T (p.Gln587Ter) rs1559087186
NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter) rs2105571544
NM_001378120.1(MBD5):c.188dup (p.Glu65fs)
NM_001378120.1(MBD5):c.196dup (p.Cys66fs)
NM_001378120.1(MBD5):c.2113del (p.Leu705fs) rs2105639771
NM_001378120.1(MBD5):c.2299_2302del (p.Asn767fs) rs1060501153
NM_001378120.1(MBD5):c.2321del (p.Pro774fs) rs1553518752
NM_001378120.1(MBD5):c.2356C>T (p.Gln786Ter) rs2105642195
NM_001378120.1(MBD5):c.2437C>T (p.Gln813Ter) rs1057524832
NM_001378120.1(MBD5):c.2586_2667del (p.Ser863fs) rs1559094754
NM_001378120.1(MBD5):c.2633del (p.Pro878fs) rs1553519853
NM_001378120.1(MBD5):c.3572del (p.Thr1190_Leu1191insTer) rs2105093302
NM_001378120.1(MBD5):c.3598C>T (p.Gln1200Ter)
NM_001378120.1(MBD5):c.3598del (p.Gln1200fs)
NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)
NM_001378120.1(MBD5):c.3769del (p.Asp1257fs) rs2105123510
NM_001378120.1(MBD5):c.3790A>T (p.Arg1264Ter) rs1450731543
NM_001378120.1(MBD5):c.379del (p.Ser127fs) rs1553517984
NM_001378120.1(MBD5):c.3907C>T (p.Gln1303Ter) rs2105124818
NM_001378120.1(MBD5):c.397+1G>A rs1553517991
NM_001378120.1(MBD5):c.397+2T>C
NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) rs1681473896
NM_001378120.1(MBD5):c.4585C>T (p.Arg1529Ter) rs2105130509
NM_001378120.1(MBD5):c.469_476del (p.Thr157fs) rs2105622677
NM_001378120.1(MBD5):c.4704_4728dup (p.Ser1577delinsLeuGlnTrpArgLeuTer)
NM_001378120.1(MBD5):c.4729del (p.Ser1577fs) rs2105131625
NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs)
NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
NM_001378120.1(MBD5):c.5154del (p.Lys1719fs) rs1060501151
NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) rs1680665652
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter) rs1293936199
NM_001378120.1(MBD5):c.598dup (p.Arg200fs)
NM_001378120.1(MBD5):c.698del (p.Gly233fs) rs1680673822
NM_001378120.1(MBD5):c.707C>G (p.Ser236Ter) rs766179352
NM_001378120.1(MBD5):c.710_725del (p.Ile237fs) rs2105625178
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)
NM_001378120.1(MBD5):c.947del (p.Asn316fs) rs1680684706
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) rs1936845711
NM_001379200.1(TBX1):c.1117del (p.Leu373fs) rs2145838229
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) rs2145827917
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) rs2145827929
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs1936640897
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) rs1555895466
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) rs2145835194
NM_001379200.1(TBX1):c.881del (p.Lys294fs) rs2145836457
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs1936634853
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro) rs2153074771
NM_002397.5(MEF2C):c.192dup (p.Val65fs) rs1580988138
NM_002397.5(MEF2C):c.258+2T>C
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.403-1G>A
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.468del (p.Tyr157fs)
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.559dup (p.Thr187fs) rs2152524628
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter) rs796052733
NM_002397.5(MEF2C):c.780dup (p.Pro261fs) rs1561697465
NM_002397.5(MEF2C):c.881del (p.Pro294fs)
NM_002397.5(MEF2C):c.908dup (p.Leu303fs) rs1581338441
NM_002397.5(MEF2C):c.988del (p.Leu330fs) rs1759964009
NM_002397.5(MEF2C):c.999_1000del (p.Ser334fs)
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter) rs1565334264
NM_014679.5(CEP57):c.20_21del (p.Ser7fs)
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) rs387906977
NM_014679.5(CEP57):c.312_313del (p.Tyr104_Lys105delinsTer)
NM_014679.5(CEP57):c.523C>T (p.Arg175Ter) rs775752088
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) rs773014425
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) rs1166323407
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val) rs2149836269
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter) rs1763175962
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter) rs1270264665
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1760del (p.Gly587fs) rs1581316964
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter) rs1763225156
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) rs1481136060
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs) rs2149844461
NM_022455.5(NSD1):c.2097dup (p.Gln700fs) rs1763249718
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs) rs2149844773
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs) rs2149845831
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2674del (p.Ser892fs) rs2149846018
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.3031del (p.Ser1011fs) rs2149846959
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3254del (p.Pro1085fs) rs2149847798
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3687del (p.Ala1230fs) rs2149849204
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter) rs2149849285
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs) rs1763397145
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter) rs2149887293
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4124del (p.Val1375fs) rs1765618844
NM_022455.5(NSD1):c.4216del (p.Arg1406fs) rs1765712615
NM_022455.5(NSD1):c.4303-3T>G
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4514dup (p.His1505fs) rs2149899468
NM_022455.5(NSD1):c.4569del (p.Met1525fs) rs2149899647
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter) rs2149904394
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs) rs2149904428
NM_022455.5(NSD1):c.4702del (p.Leu1568fs) rs1755987983
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.4883del (p.Met1628fs) rs2149912535
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu) rs2149917734
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln) rs2149931088
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer) rs1757602433
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5304-1G>C rs863224905
NM_022455.5(NSD1):c.5321T>A (p.Ile1774Asn) rs2149934255
NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter) rs1757804086
NM_022455.5(NSD1):c.5509+2T>G rs1581497997
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs) rs2127241978
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr) rs1758796866
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer) rs2127257218
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala) rs2127257578
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5892+1G>T rs886039579
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg) rs2127263172
NM_022455.5(NSD1):c.6152-5T>G rs755758018
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) rs2127276046
NM_022455.5(NSD1):c.6294del (p.Lys2098fs) rs2127276076
NM_022455.5(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6391dup (p.Val2131fs) rs2127276417
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs) rs2127276655
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser) rs1760056582
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs) rs1760057409
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg) rs1760058101
NM_022455.5(NSD1):c.6543del (p.Cys2183fs) rs1760062897
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
NM_022455.5(NSD1):c.7603del (p.Gln2535fs) rs2127283690
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs) rs2132942163
NM_024426.6(WT1):c.1149del (p.Val384fs) rs1554939839
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter) rs2132939500
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1338C>A (p.His446Gln) rs121907907
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln) rs1590326226
NM_024426.6(WT1):c.225del (p.Ser76fs)
NM_024426.6(WT1):c.275dup (p.Gly93fs)
NM_024426.6(WT1):c.276del (p.Gly93fs) rs2133105444
NM_024426.6(WT1):c.314_318dup (p.Trp107fs) rs2133104877
NM_024426.6(WT1):c.334del (p.Asp112fs) rs1554946600
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
NM_024426.6(WT1):c.455del (p.Gly152fs) rs2133103216
NM_024426.6(WT1):c.478C>T (p.Gln160Ter) rs1554946500
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
NM_024426.6(WT1):c.653del (p.Arg218fs) rs1565000973
NM_024426.6(WT1):c.682dup (p.Asp228fs) rs1554945232
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter) rs2133073037
NM_024426.6(WT1):c.812del (p.Pro271fs) rs1060501253
NM_024426.6(WT1):c.834del (p.Thr279fs)
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter) rs1554945031
NM_024426.6(WT1):c.882_887+3del rs2133072022
NM_024426.6(WT1):c.897del (p.Leu299fs) rs1852720329
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.