ClinVar Miner

List of variants reported as benign for syndrome caused by partial chromosomal deletion

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 470
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_001002295.2(GATA3):c.*612G>A rs1058240 0.81149
NM_001002295.2(GATA3):c.925-27C>T rs422628 0.76775
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_001145358.2(SIN3A):c.3592-21T>A rs7403118 0.67414
NM_006940.6(SOX5):c.481+29A>G rs7980561 0.66790
NM_001172509.2(SATB2):c.474-35G>C rs1348813 0.63041
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_000304.4(PMP22):c.*59A>C rs13422 0.56905
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_001002295.2(GATA3):c.-251G>A rs10905277 0.42864
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=) rs2236059 0.29650
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NC_000022.11:g.19755901C>T rs41260844 0.23484
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_001002295.2(GATA3):c.*517A>G rs9746 0.16581
NC_000011.10:g.32438918G>A rs6508 0.16158
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359 0.05137
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_001002295.2(GATA3):c.-60C>T rs11567887 0.04369
NM_080647.1(TBX1):c.-882C>T rs41298629 0.03856
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254 0.03693
NM_001002295.2(GATA3):c.*93C>T rs2229360 0.03683
NM_001002295.2(GATA3):c.-58C>T rs412359 0.03619
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) rs11567941 0.03143
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_001002295.2(GATA3):c.*1066C>T rs11255509 0.02420
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_000304.4(PMP22):c.-74A>G rs114365663 0.01441
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_001002295.2(GATA3):c.-49C>T rs11567942 0.01056
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_000304.4(PMP22):c.-86A>C rs140650630 0.00832
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00813
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_001002295.2(GATA3):c.*987T>G rs183890714 0.00440
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267 0.00407
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.*912G>A rs149070440 0.00366
NM_001002295.2(GATA3):c.-48G>T rs554517990 0.00344
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_001002295.2(GATA3):c.-359G>A rs138512915 0.00332
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001002295.2(GATA3):c.*491A>G rs138815232 0.00283
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419 0.00278
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_001002295.2(GATA3):c.*664C>T rs192494656 0.00195
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_022455.5(NSD1):c.4378+26C>T rs139601377 0.00189
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=) rs141436870 0.00166
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001002295.2(GATA3):c.-69G>A rs28395794 0.00147
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_022455.5(NSD1):c.6464-20A>G rs371359117 0.00130
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_001002295.2(GATA3):c.-351C>T rs34628951 0.00117
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257 0.00090
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_001002295.2(GATA3):c.*26C>G rs200946839 0.00082
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001002295.2(GATA3):c.-264G>T rs35971003 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001002295.2(GATA3):c.-95G>T rs369825935 0.00074
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_000304.4(PMP22):c.79-6C>T rs201682989 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_001002295.2(GATA3):c.*798G>A rs531077807 0.00064
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_000304.4(PMP22):c.*200T>G rs142106420 0.00063
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000304.4(PMP22):c.*173C>T rs117277951 0.00044
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.4379-15A>G rs143520065 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_022455.5(NSD1):c.4949A>G (p.Asn1650Ser) rs148839758 0.00034
NM_001379200.1(TBX1):c.540-16C>T rs200786105 0.00033
NM_022455.5(NSD1):c.2601C>A (p.Leu867=) rs368078696 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_001379200.1(TBX1):c.705C>T (p.Asn235=) rs149453540 0.00024
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_022455.5(NSD1):c.2861A>C (p.Lys954Thr) rs555067830 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_001002295.2(GATA3):c.*22G>A rs199951165 0.00019
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_022455.5(NSD1):c.2427G>A (p.Glu809=) rs61744224 0.00018
NM_022455.5(NSD1):c.3221G>A (p.Arg1074His) rs766901249 0.00016
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro) rs202220730 0.00016
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp) rs147191297 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_022455.5(NSD1):c.436A>G (p.Ile146Val) rs745885259 0.00011
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_022455.5(NSD1):c.1317C>T (p.Asn439=) rs150421873 0.00010
NM_022455.5(NSD1):c.3133C>T (p.Arg1045Cys) rs377148087 0.00010
NM_001002295.2(GATA3):c.241+8C>T rs376505863 0.00009
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) rs375051877 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly) rs557935727 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_022455.5(NSD1):c.2465C>G (p.Ser822Cys) rs377684553 0.00008
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) rs200241618 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091 0.00007
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=) rs375553887 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=) rs200080728 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022455.5(NSD1):c.340A>G (p.Thr114Ala) rs749444972 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_000304.4(PMP22):c.*890C>T rs546778557 0.00006
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559 0.00006
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) rs144796042 0.00006
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_022455.5(NSD1):c.1829A>G (p.Gln610Arg) rs142544192 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly) rs1048433974 0.00005
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser) rs1394335364 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_022455.5(NSD1):c.3741G>A (p.Met1247Ile) rs760307871 0.00005
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_022455.5(NSD1):c.7196A>C (p.Lys2399Thr) rs755585241 0.00005
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001379200.1(TBX1):c.437+11C>T rs751433208 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys) rs775044010 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.3540A>G (p.Lys1180=) rs776683728 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_022455.5(NSD1):c.7403G>A (p.Arg2468Gln) rs587784217 0.00004
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile) rs373787813 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.965+14T>C rs369920807 0.00004
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_001002295.2(GATA3):c.1186G>A (p.Ala396Thr) rs200935603 0.00003
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.540-17A>C rs750770662 0.00003
NM_001379200.1(TBX1):c.540-7G>A rs372179395 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.3307G>A (p.Asp1103Asn) rs746210838 0.00003
NM_022455.5(NSD1):c.5967A>G (p.Gln1989=) rs544317310 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val) rs1451743452 0.00002
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg) rs999561200 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_022455.5(NSD1):c.1495G>A (p.Ala499Thr) rs587784075 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_001002295.2(GATA3):c.737G>C (p.Gly246Ala) rs548018172 0.00001
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1749T>C (p.His583=) rs199854906 0.00001
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn) rs915648697 0.00001
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr) rs551624897 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) rs750354456 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.8050G>A (p.Ala2684Thr) rs188326949 0.00001
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_000304.4(PMP22):c.*376C>T rs575964802
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001145358.2(SIN3A):c.3592-20T>A rs4886696
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu) rs1692196446
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln) rs2105707537
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu) rs1692191333
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg) rs2105707013
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val) rs2105706426
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539
NM_001378414.1(HDAC4):c.95-98del rs74761897
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del) rs752498057
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del) rs751264690
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.935+16dup
NM_001379200.1(TBX1):c.936-9del rs763127510
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_006940.6(SOX5):c.1771+29G>A rs7485662
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.933+11del rs11344586
NM_022455.5(NSD1):c.*4611del rs60995782
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1467G>C (p.Glu489Asp)
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.1812A>T (p.Arg604=)
NM_022455.5(NSD1):c.1839G>A (p.Leu613=)
NM_022455.5(NSD1):c.1895G>A (p.Arg632Gln)
NM_022455.5(NSD1):c.2181G>C (p.Gln727His)
NM_022455.5(NSD1):c.2194G>A (p.Asp732Asn)
NM_022455.5(NSD1):c.2334A>G (p.Leu778=)
NM_022455.5(NSD1):c.2387A>C (p.Glu796Ala)
NM_022455.5(NSD1):c.2560A>G (p.Thr854Ala)
NM_022455.5(NSD1):c.2914A>G (p.Thr972Ala)
NM_022455.5(NSD1):c.3169A>T (p.Asn1057Tyr)
NM_022455.5(NSD1):c.3181A>T (p.Ser1061Cys)
NM_022455.5(NSD1):c.3309C>G (p.Asp1103Glu)
NM_022455.5(NSD1):c.3425A>G (p.Asn1142Ser)
NM_022455.5(NSD1):c.3598C>T (p.Arg1200Trp)
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4528A>G (p.Ser1510Gly)
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.5(NSD1):c.6636T>C (p.Pro2212=)
NM_022455.5(NSD1):c.6787T>A (p.Ser2263Thr)
NM_022455.5(NSD1):c.7163C>T (p.Pro2388Leu)
NM_022455.5(NSD1):c.7264G>C (p.Glu2422Gln)
NM_022455.5(NSD1):c.7722G>A (p.Pro2574=)
NM_024426.6(WT1):c.1017-20dup
NM_024426.6(WT1):c.1122A>C (p.Arg374=) rs16754
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_024426.6(WT1):c.888-8dup
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878

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.