| 13626747 | CV523548 | single nucleotide variant | NM_012082.4(ZFPM2):c.41-4C>A | 46,XY sex reversal 9 [RCV000655310] | benign | 8 | 105419140 | 105419140 | Human | 1 | name , alternate_id |
| 127277339 | CV1074979 | single nucleotide variant | NM_012082.4(ZFPM2):c.302-5T>C | 46,XY sex reversal 9 [RCV001407713] | likely benign | 8 | 105561358 | 105561358 | Human | 1 | name , alternate_id |
| 127310373 | CV1139082 | single nucleotide variant | NM_012082.4(ZFPM2):c.302-4G>A | 46,XY sex reversal 9 [RCV001501322] | likely benign | 8 | 105561359 | 105561359 | Human | 1 | name , alternate_id |
| 152171451 | CV1552751 | single nucleotide variant | NM_012082.4(ZFPM2):c.200-8T>G | 46,XY sex reversal 9 [RCV002143450] | benign | 8 | 105444272 | 105444272 | Human | 1 | name , alternate_id |
| 152136707 | CV1595197 | single nucleotide variant | NM_012082.4(ZFPM2):c.40+12C>G | 46,XY sex reversal 9 [RCV002200043]|Diaphragmatic hernia 3 [RCV002494097] | benign|likely benign | 8 | 105318993 | 105318993 | Human | 3 | name , alternate_id |
| 152060246 | CV1650517 | single nucleotide variant | NM_012082.4(ZFPM2):c.421-5T>C | 46,XY sex reversal 9 [RCV002128255] | benign | 8 | 105634241 | 105634241 | Human | 1 | name , alternate_id |
| 405169982 | CV2899726 | single nucleotide variant | NM_012082.4(ZFPM2):c.964+4A>C | 46,XY sex reversal 9 [RCV003587477] | uncertain significance | 8 | 105798952 | 105798952 | Human | 1 | name , alternate_id |
| 405103531 | CV3076506 | single nucleotide variant | NM_012082.4(ZFPM2):c.41-10C>G | 46,XY sex reversal 9 [RCV003749684] | benign | 8 | 105419134 | 105419134 | Human | 1 | name , alternate_id |
| 405087997 | CV3134067 | single nucleotide variant | NM_012082.4(ZFPM2):c.40+11G>C | 46,XY sex reversal 9 [RCV003834605] | likely benign | 8 | 105318992 | 105318992 | Human | 1 | name , alternate_id |
| 408374284 | CV3515409 | single nucleotide variant | NM_012082.4(ZFPM2):c.302-2A>C | ZFPM2-related disorder [RCV004746622] | likely pathogenic | 8 | 105561361 | 105561361 | Human | | name , trait , alternate_id |
| 13626751 | CV523204 | single nucleotide variant | NM_012082.4(ZFPM2):c.533-4A>T | 46,XY sex reversal 9 [RCV000655314]|not specified [RCV004702259] | benign | 8 | 105788714 | 105788714 | Human | 1 | name , alternate_id |
| 15159393 | CV689897 | single nucleotide variant | NM_012082.4(ZFPM2):c.740-4G>T | not provided [RCV000868816] | likely benign | 8 | 105798720 | 105798720 | Human | | name |
| 15161367 | CV759610 | single nucleotide variant | NM_012082.4(ZFPM2):c.301+9G>T | not provided [RCV000925670] | likely benign | 8 | 105444390 | 105444390 | Human | | name |
| 150492231 | CV1225434 | single nucleotide variant | NM_012082.4(ZFPM2):c.532+98A>T | not provided [RCV001618949] | benign | 8 | 105634455 | 105634455 | Human | | name |
| 150499213 | CV1235694 | single nucleotide variant | NM_012082.4(ZFPM2):c.301+74A>G | not provided [RCV001656377] | benign | 8 | 105444455 | 105444455 | Human | | name |
| 150446434 | CV1250665 | single nucleotide variant | NM_012082.4(ZFPM2):c.964+79G>A | not provided [RCV001667170] | benign | 8 | 105799027 | 105799027 | Human | | name |
| 151776423 | CV1449922 | single nucleotide variant | NM_012082.4(ZFPM2):c.421-10C>A | 46,XY sex reversal 9 [RCV001864559] | likely benign|uncertain significance | 8 | 105634236 | 105634236 | Human | 1 | name , alternate_id |
| 152104995 | CV1536611 | single nucleotide variant | NM_012082.4(ZFPM2):c.965-11T>C | 46,XY sex reversal 9 [RCV002173593] | benign | 8 | 105801036 | 105801036 | Human | 1 | name , alternate_id |
| 152065811 | CV1601527 | single nucleotide variant | NM_012082.4(ZFPM2):c.740-19C>T | 46,XY sex reversal 9 [RCV002168637] | likely benign | 8 | 105798705 | 105798705 | Human | 1 | name , alternate_id |
| 152073037 | CV1657370 | single nucleotide variant | NM_012082.4(ZFPM2):c.739+19G>A | 46,XY sex reversal 9 [RCV002210233] | benign | 8 | 105788943 | 105788943 | Human | 1 | name , alternate_id |
| 156214148 | CV1914222 | single nucleotide variant | NM_012082.4(ZFPM2):c.420+16G>A | 46,XY sex reversal 9 [RCV002596187] | likely benign | 8 | 105561497 | 105561497 | Human | 1 | name , alternate_id |
| 11552237 | CV252998 | single nucleotide variant | NM_012082.4(ZFPM2):c.302-13C>T | 46,XY sex reversal 9 [RCV002058228]|Tetralogy of Fallot [RCV002244630]|not provided [RCV001668526]|not specified [RCV000254101] | benign | 8 | 105561350 | 105561350 | Human | 3 | name , alternate_id |
| 405214624 | CV3124471 | single nucleotide variant | NM_012082.4(ZFPM2):c.420+15C>T | 46,XY sex reversal 9 [RCV003823833] | likely benign | 8 | 105561496 | 105561496 | Human | 1 | name , alternate_id |
| 150447857 | CV1216176 | single nucleotide variant | NM_012082.4(ZFPM2):c.420+210C>T | not provided [RCV001611474] | benign | 8 | 105561691 | 105561691 | Human | 1 | name |
| 150447857 | CV1216176 | single nucleotide variant | NM_012082.4(ZFPM2):c.420+210C>T | not provided [RCV001611474] | benign | 8 | 105561691 | 105561692 | Human | 1 | name |
| 150491640 | CV1225336 | duplication | NM_012082.4(ZFPM2):c.-73_-65dup | not provided [RCV001618851] | benign | 8 | 105318866 | 105318867 | Human | | name |
| 150430846 | CV1243498 | single nucleotide variant | NM_012082.4(ZFPM2):c.964+306A>G | not provided [RCV001663117] | benign | 8 | 105799254 | 105799254 | Human | | name |
| 12883658 | CV396543 | microsatellite | NM_012082.4(ZFPM2):c.965-9TC[2] | 46,XY sex reversal 9 [RCV000462010]|not specified [RCV001821322] | benign | 8 | 105801038 | 105801039 | Human | | name , alternate_id |
| 152129773 | CV1539019 | single nucleotide variant | NM_012082.4(ZFPM2):c.532+28227T>C | 46,XY sex reversal 9 [RCV002217908]|not provided [RCV004713135] | benign | 8 | 105662584 | 105662584 | Human | 4 | name , alternate_id |
| 152129773 | CV1539019 | single nucleotide variant | NM_012082.4(ZFPM2):c.532+28227T>C | 46,XY sex reversal 9 [RCV002217908]|not provided [RCV004713135] | benign | 8 | 105662584 | 105662585 | Human | 4 | name , alternate_id |
| 8649710 | CV126284 | single nucleotide variant | NR_125796.1(ZFPM2-AS1):n.179+5795G>A | Lung cancer [RCV000106771] | uncertain significance | 8 | 106053286 | 106053286 | Human | | name |
| 15124723 | CV683960 | single nucleotide variant | NM_012082.4(ZFPM2):c.27C>G (p.Pro9=) | not provided [RCV000862467] | likely benign | 8 | 105318968 | 105318968 | Human | | name |
| 127255077 | CV1096623 | single nucleotide variant | NM_012082.4(ZFPM2):c.72A>G (p.Glu24=) | 46,XY sex reversal 9 [RCV001426445] | likely benign | 8 | 105419175 | 105419175 | Human | 1 | name , alternate_id |
| 8649709 | CV126283 | single nucleotide variant | NR_125796.1(ZFPM2-AS1):n.179+54493T>C | Lung cancer [RCV000106770] | uncertain significance | 8 | 106004588 | 106004588 | Human | | name |
| 156371108 | CV2007757 | single nucleotide variant | NM_012082.4(ZFPM2):c.78A>G (p.Glu26=) | 46,XY sex reversal 9 [RCV002676907] | likely benign | 8 | 105419181 | 105419181 | Human | 1 | name , alternate_id |
| 156094864 | CV2102857 | single nucleotide variant | NM_012082.4(ZFPM2):c.90G>A (p.Glu30=) | 46,XY sex reversal 9 [RCV002913176] | likely benign | 8 | 105419193 | 105419193 | Human | 1 | name , alternate_id |
| 15147459 | CV687157 | single nucleotide variant | NM_012082.4(ZFPM2):c.57C>T (p.Ala19=) | 46,XY sex reversal 9 [RCV002064536] | likely benign | 8 | 105419160 | 105419160 | Human | 1 | name , alternate_id |
| 127312161 | CV1155821 | single nucleotide variant | NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) | 46,XY sex reversal 9 [RCV001518853]|ZFPM2-related disorder [RCV003908856] | benign|likely benign | 8 | 105444338 | 105444338 | Human | 1 | name , trait , alternate_id |
| 152171821 | CV1597818 | single nucleotide variant | NM_012082.4(ZFPM2):c.261G>T (p.Pro87=) | 46,XY sex reversal 9 [RCV002162245]|not provided [RCV004706278] | likely benign | 8 | 105444341 | 105444341 | Human | 1 | name , alternate_id |
| 156383433 | CV1870560 | single nucleotide variant | NM_012082.4(ZFPM2):c.261G>A (p.Pro87=) | 46,XY sex reversal 9 [RCV003067364] | likely benign | 8 | 105444341 | 105444341 | Human | 1 | name , alternate_id |
| 405265129 | CV3202100 | single nucleotide variant | NM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter) | ZFPM2-related disorder [RCV003897282] | likely pathogenic | 8 | 105318951 | 105318951 | Human | | name , trait , alternate_id |
| 13626746 | CV523199 | single nucleotide variant | NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) | 46,XY sex reversal 9 [RCV000655309] | likely benign|uncertain significance | 8 | 105444320 | 105444320 | Human | 1 | name , alternate_id |
| 15126010 | CV683961 | single nucleotide variant | NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) | 46,XY sex reversal 9 [RCV000862684]|not provided [RCV004705802] | likely benign | 8 | 105444365 | 105444365 | Human | 1 | name , alternate_id |
| 126908181 | CV1045216 | single nucleotide variant | NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) | 46,XY sex reversal 9 [RCV001367676] | uncertain significance | 8 | 105419177 | 105419177 | Human | 1 | name , alternate_id |
| 127232083 | CV1096624 | single nucleotide variant | NM_012082.4(ZFPM2):c.357A>G (p.Gln119=) | 46,XY sex reversal 9 [RCV001421142] | likely benign | 8 | 105561418 | 105561418 | Human | 1 | name , alternate_id |
| 150335300 | CV1171799 | duplication | NM_012082.4(ZFPM2):c.740-344_740-341dup | not provided [RCV001540493] | benign | 8 | 105798377 | 105798378 | Human | | name |
| 150528627 | CV1305999 | single nucleotide variant | NM_012082.4(ZFPM2):c.73G>A (p.Glu25Lys) | not provided [RCV001755402] | uncertain significance | 8 | 105419176 | 105419176 | Human | | name |
| 152126961 | CV1572012 | single nucleotide variant | NM_012082.4(ZFPM2):c.582G>A (p.Glu194=) | 46,XY sex reversal 9 [RCV002217541]|ZFPM2-related disorder [RCV003968823] | likely benign | 8 | 105788767 | 105788767 | Human | 1 | name , trait , alternate_id |
| 152171710 | CV1575587 | single nucleotide variant | NM_012082.4(ZFPM2):c.384G>A (p.Pro128=) | 46,XY sex reversal 9 [RCV002183591] | likely benign | 8 | 105561445 | 105561445 | Human | 1 | name , alternate_id |
| 152093112 | CV1593289 | single nucleotide variant | NM_012082.4(ZFPM2):c.660T>C (p.Pro220=) | 46,XY sex reversal 9 [RCV002094464] | likely benign | 8 | 105788845 | 105788845 | Human | 1 | name , alternate_id |
| 155989323 | CV2026853 | single nucleotide variant | NM_012082.4(ZFPM2):c.564C>T (p.Ala188=) | 46,XY sex reversal 9 [RCV002755680] | likely benign | 8 | 105788749 | 105788749 | Human | 1 | name , alternate_id |
| 156056485 | CV2102057 | single nucleotide variant | NM_012082.4(ZFPM2):c.495G>A (p.Val165=) | 46,XY sex reversal 9 [RCV002886346] | likely benign | 8 | 105634320 | 105634320 | Human | 1 | name , alternate_id |
| 8597047 | CV21167 | single nucleotide variant | NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) | 46,XY sex reversal 3 [RCV001007696]|46,XY sex reversal 9 [RCV000461090]|Diaphragmatic hernia 3 [RCV000172841]|Double outlet right ventricle [RCV000032713]|Tetralogy of Fallot [RCV000006502]|ZFPM2-related disorder [RCV003924804]|not provided [RCV001573801]|not sp ecified [RCV001818141] | pathogenic|benign|likely benign | 8 | 105419192 | 105419192 | Human | 7 | name , trait , alternate_id |
| 405250999 | CV3014342 | single nucleotide variant | NM_012082.4(ZFPM2):c.873C>A (p.Ala291=) | 46,XY sex reversal 9 [RCV003747789] | likely benign | 8 | 105798857 | 105798857 | Human | 1 | name , alternate_id |
| 407459199 | CV3490199 | single nucleotide variant | NM_012082.4(ZFPM2):c.58A>G (p.Ile20Val) | Inborn genetic diseases [RCV004687072] | uncertain significance | 8 | 105419161 | 105419161 | Human | 1 | name |
| 596938548 | CV3549624 | single nucleotide variant | NM_012082.4(ZFPM2):c.95C>T (p.Thr32Ile) | not provided [RCV004812664] | uncertain significance | 8 | 105419198 | 105419198 | Human | | name |
| 597971838 | CV3798920 | single nucleotide variant | NM_012082.4(ZFPM2):c.996T>C (p.Gly332=) | 46,XY sex reversal 9 [RCV005142332] | likely benign | 8 | 105801078 | 105801078 | Human | 1 | name , alternate_id |
| 597854075 | CV3821624 | single nucleotide variant | NM_012082.4(ZFPM2):c.813C>T (p.Tyr271=) | 46,XY sex reversal 9 [RCV005174102] | likely benign | 8 | 105798797 | 105798797 | Human | 1 | name , alternate_id |
| 12888739 | CV396256 | single nucleotide variant | NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) | 46,XY sex reversal 9 [RCV000471512] | likely benign | 8 | 105798806 | 105798806 | Human | 1 | name , alternate_id |
| 15135020 | CV687158 | single nucleotide variant | NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) | 46,XY sex reversal 9 [RCV000864237] | likely benign | 8 | 105798830 | 105798830 | Human | 1 | name , alternate_id |
| 126769108 | CV1028269 | single nucleotide variant | NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) | 46,XY sex reversal 9 [RCV001343743] | likely benign|uncertain significance | 8 | 105801948 | 105801948 | Human | 1 | name , alternate_id |
| 126914757 | CV1045217 | single nucleotide variant | NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) | 46,XY sex reversal 9 [RCV001370583]|Inborn genetic diseases [RCV002548644]|not provided [RCV001573859] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 105419224 | 105419224 | Human | 2 | name , alternate_id |
| 127262060 | CV1074981 | single nucleotide variant | NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=) | 46,XY sex reversal 9 [RCV001402555] | likely benign | 8 | 105801243 | 105801243 | Human | 1 | name , alternate_id |
| 127276963 | CV1074982 | single nucleotide variant | NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=) | 46,XY sex reversal 9 [RCV001407477] | likely benign | 8 | 105801300 | 105801300 | Human | 1 | name , alternate_id |
| 127277420 | CV1096625 | single nucleotide variant | NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) | 46,XY sex reversal 9 [RCV001444389] | likely benign | 8 | 105802614 | 105802614 | Human | 1 | name , alternate_id |
| 127255715 | CV1096626 | single nucleotide variant | NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) | 46,XY sex reversal 9 [RCV001426663] | likely benign | 8 | 105802782 | 105802782 | Human | 1 | name , alternate_id |
| 127266282 | CV1096627 | single nucleotide variant | NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=) | 46,XY sex reversal 9 [RCV001429359] | likely benign | 8 | 105802794 | 105802794 | Human | 1 | name , alternate_id |
| 127304900 | CV1155822 | single nucleotide variant | NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=) | 46,XY sex reversal 9 [RCV001516080]|not specified [RCV001821823] | benign|likely benign | 8 | 105802512 | 105802512 | Human | 1 | name , alternate_id |
| 150520479 | CV1289686 | single nucleotide variant | NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) | 46,XY sex reversal 9 [RCV001730105] | likely pathogenic | 8 | 105419295 | 105419295 | Human | 1 | name , alternate_id |
| 151728015 | CV1495491 | single nucleotide variant | NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) | 46,XY sex reversal 9 [RCV002040912] | likely benign | 8 | 105801702 | 105801702 | Human | 1 | name , alternate_id |
| 152025597 | CV1561518 | single nucleotide variant | NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=) | 46,XY sex reversal 9 [RCV002104264] | likely benign | 8 | 105801792 | 105801792 | Human | 1 | name , alternate_id |
| 152070452 | CV1581216 | single nucleotide variant | NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) | 46,XY sex reversal 9 [RCV002091512] | likely benign | 8 | 105801576 | 105801576 | Human | 1 | name , alternate_id |
| 152074512 | CV1620408 | single nucleotide variant | NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=) | 46,XY sex reversal 9 [RCV002111913] | likely benign | 8 | 105801192 | 105801192 | Human | 1 | name , alternate_id |
| 152073008 | CV1637925 | single nucleotide variant | NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=) | 46,XY sex reversal 9 [RCV002192041] | likely benign | 8 | 105802770 | 105802770 | Human | 1 | name , alternate_id |
| 152066939 | CV1647097 | single nucleotide variant | NM_012082.4(ZFPM2):c.1071T>C (p.His357=) | 46,XY sex reversal 9 [RCV002129101] | likely benign | 8 | 105801153 | 105801153 | Human | 1 | name , alternate_id |
| 152084908 | CV1663133 | single nucleotide variant | NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=) | 46,XY sex reversal 9 [RCV002171036] | likely benign | 8 | 105801976 | 105801976 | Human | 1 | name , alternate_id |
| 155957159 | CV1876878 | single nucleotide variant | NM_012082.4(ZFPM2):c.1155T>C (p.His385=) | 46,XY sex reversal 9 [RCV003074479] | likely benign | 8 | 105801237 | 105801237 | Human | 1 | name , alternate_id |
| 156145140 | CV1922919 | single nucleotide variant | NM_012082.4(ZFPM2):c.2355C>T (p.His785=) | 46,XY sex reversal 9 [RCV002623804] | likely benign | 8 | 105802437 | 105802437 | Human | 1 | name , alternate_id |
| 156205681 | CV2103699 | single nucleotide variant | NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=) | 46,XY sex reversal 9 [RCV002931854] | likely benign | 8 | 105802368 | 105802368 | Human | 1 | name , alternate_id |
| 155953739 | CV2123688 | single nucleotide variant | NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr) | 46,XY sex reversal 9 [RCV002972007] | benign | 8 | 105419294 | 105419294 | Human | 1 | name , alternate_id |
| 11349615 | CV240219 | single nucleotide variant | NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) | 46,XY sex reversal 3 [RCV001007699]|46,XY sex reversal 9 [RCV000231192]|ZFPM2-related disorder [RCV003919971]|not provided [RCV003430790] | benign|likely benign | 8 | 105444372 | 105444372 | Human | 2 | name , trait , alternate_id |
| 329384450 | CV2472854 | single nucleotide variant | NM_012082.4(ZFPM2):c.125T>G (p.Leu42Trp) | not provided [RCV003214156] | uncertain significance | 8 | 105419228 | 105419228 | Human | | name |
| 11550521 | CV253001 | single nucleotide variant | NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) | 46,XY sex reversal 9 [RCV001515438]|not provided [RCV001683063]|not specified [RCV000251859] | benign | 8 | 105801444 | 105801444 | Human | 1 | name , alternate_id |
| 11544484 | CV253002 | single nucleotide variant | NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) | 46,XY sex reversal 9 [RCV000475888]|not provided [RCV001651198]|not specified [RCV000243857] | benign | 8 | 105801858 | 105801858 | Human | 1 | name , alternate_id |
| 11547005 | CV253003 | single nucleotide variant | NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) | 46,XY sex reversal 9 [RCV003748213]|not provided [RCV003422172]|not specified [RCV000247198] | likely benign | 8 | 105801933 | 105801933 | Human | 1 | name , alternate_id |
| 11544711 | CV253005 | single nucleotide variant | NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) | 46,XY sex reversal 9 [RCV000470649]|not provided [RCV001709546]|not specified [RCV000244154] | benign | 8 | 105802467 | 105802467 | Human | 1 | name , alternate_id |
| 11548460 | CV253006 | single nucleotide variant | NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) | 46,XY sex reversal 9 [RCV000462912]|not provided [RCV001610682]|not specified [RCV000249120] | benign | 8 | 105803058 | 105803058 | Human | 1 | name , alternate_id |
| 401859985 | CV2765425 | single nucleotide variant | NM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr) | 46,XY sex reversal 9 [RCV005104072]|Inborn genetic diseases [RCV003342092] | uncertain significance | 8 | 105444366 | 105444366 | Human | 2 | name , alternate_id |
| 401933528 | CV2800361 | single nucleotide variant | NM_012082.4(ZFPM2):c.251C>T (p.Ser84Leu) | ZFPM2-related disorder [RCV003410373] | uncertain significance | 8 | 105444331 | 105444331 | Human | | name , trait , alternate_id |
| 405160767 | CV2860382 | single nucleotide variant | NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=) | 46,XY sex reversal 9 [RCV003586713]|ZFPM2-related disorder [RCV003901109] | likely benign | 8 | 105801120 | 105801120 | Human | 1 | name , trait , alternate_id |
| 405160010 | CV2866082 | single nucleotide variant | NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn) | 46,XY sex reversal 9 [RCV003586651] | uncertain significance | 8 | 105444321 | 105444321 | Human | 1 | name , alternate_id |
| 405164498 | CV2879355 | single nucleotide variant | NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=) | 46,XY sex reversal 9 [RCV003586902] | likely benign | 8 | 105801574 | 105801574 | Human | 1 | name , alternate_id |
| 405165713 | CV2881881 | single nucleotide variant | NM_012082.4(ZFPM2):c.2562C>T (p.His854=) | 46,XY sex reversal 9 [RCV003587127] | likely benign | 8 | 105802644 | 105802644 | Human | 1 | name , alternate_id |
| 405169568 | CV2899219 | single nucleotide variant | NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=) | 46,XY sex reversal 9 [RCV003587443] | likely benign | 8 | 105802992 | 105802992 | Human | 1 | name , alternate_id |
| 405102072 | CV2950150 | single nucleotide variant | NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=) | 46,XY sex reversal 9 [RCV003749174] | likely benign | 8 | 105802029 | 105802029 | Human | 1 | name , alternate_id |
| 405252881 | CV3043992 | single nucleotide variant | NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=) | 46,XY sex reversal 9 [RCV003748668] | likely benign | 8 | 105802410 | 105802410 | Human | 1 | name , alternate_id |
| 405253197 | CV3056543 | single nucleotide variant | NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=) | 46,XY sex reversal 9 [RCV003748833] | likely benign | 8 | 105801336 | 105801336 | Human | 1 | name , alternate_id |
| 405289038 | CV3193960 | single nucleotide variant | NM_012082.4(ZFPM2):c.1797T>C (p.Thr599=) | ZFPM2-related disorder [RCV003983463] | likely benign | 8 | 105801879 | 105801879 | Human | | name , trait , alternate_id |
| 405272863 | CV3197543 | single nucleotide variant | NM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala) | 46,XY sex reversal 9 [RCV005064722]|Inborn genetic diseases [RCV004968561]|ZFPM2-related disorder [RCV003901512] | likely benign|uncertain significance | 8 | 105444360 | 105444360 | Human | 2 | name , trait , alternate_id |
| 408381637 | CV3523929 | single nucleotide variant | NM_012082.4(ZFPM2):c.134G>A (p.Ser45Asn) | not provided [RCV004766327] | uncertain significance | 8 | 105419237 | 105419237 | Human | | name |
| 597625799 | CV3624755 | single nucleotide variant | NM_012082.4(ZFPM2):c.229G>C (p.Glu77Gln) | Inborn genetic diseases [RCV004964777] | uncertain significance | 8 | 105444309 | 105444309 | Human | 1 | name |
| 597625811 | CV3624763 | single nucleotide variant | NM_012082.4(ZFPM2):c.286G>C (p.Asp96His) | Inborn genetic diseases [RCV004964784] | uncertain significance | 8 | 105444366 | 105444366 | Human | 1 | name |
| 597963808 | CV3792041 | single nucleotide variant | NM_012082.4(ZFPM2):c.2934C>T (p.Ala978=) | 46,XY sex reversal 9 [RCV005139597] | likely benign | 8 | 105803016 | 105803016 | Human | 1 | name , alternate_id |
| 597955692 | CV3796270 | single nucleotide variant | NM_012082.4(ZFPM2):c.2487C>A (p.Pro829=) | 46,XY sex reversal 9 [RCV005137087] | likely benign | 8 | 105802569 | 105802569 | Human | 1 | name , alternate_id |
| 597867557 | CV3838721 | single nucleotide variant | NM_012082.4(ZFPM2):c.139T>A (p.Ser47Thr) | 46,XY sex reversal 9 [RCV005176017] | uncertain significance | 8 | 105419242 | 105419242 | Human | 1 | name , alternate_id |
| 597889947 | CV3839671 | single nucleotide variant | NM_012082.4(ZFPM2):c.1731G>A (p.Gln577=) | 46,XY sex reversal 9 [RCV005179563] | likely benign | 8 | 105801813 | 105801813 | Human | 1 | name , alternate_id |
| 597919709 | CV3851911 | single nucleotide variant | NM_012082.4(ZFPM2):c.2373T>C (p.Phe791=) | 46,XY sex reversal 9 [RCV005204891] | likely benign | 8 | 105802455 | 105802455 | Human | 1 | name , alternate_id |
| 12881375 | CV396260 | single nucleotide variant | NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) | 46,XY sex reversal 9 [RCV002063675] | likely benign | 8 | 105801246 | 105801246 | Human | 1 | name , alternate_id |
| 598190181 | CV4008800 | single nucleotide variant | NM_012082.4(ZFPM2):c.235G>C (p.Asp79His) | Diaphragmatic hernia 3 [RCV005396299] | uncertain significance | 8 | 105444315 | 105444315 | Human | 2 | name , alternate_id |
| 13626749 | CV523429 | single nucleotide variant | NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) | 46,XY sex reversal 9 [RCV000655312]|not provided [RCV003432714] | benign|likely benign | 8 | 105801660 | 105801660 | Human | 1 | name , alternate_id |
| 14696233 | CV621896 | single nucleotide variant | NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) | 46,XY sex reversal 9 [RCV003748282]|Diaphragmatic hernia 3 [RCV000782368]|not provided [RCV005243355] | likely benign|uncertain significance | 8 | 105419233 | 105419233 | Human | 2 | name , alternate_id |
| 15124122 | CV683964 | single nucleotide variant | NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) | 46,XY sex reversal 9 [RCV000862357] | benign | 8 | 105801651 | 105801651 | Human | 1 | name , alternate_id |
| 15121642 | CV683965 | single nucleotide variant | NM_012082.4(ZFPM2):c.2097C>T (p.His699=) | 46,XY sex reversal 9 [RCV000861906] | benign | 8 | 105802179 | 105802179 | Human | 1 | name , alternate_id |
| 15133922 | CV683966 | single nucleotide variant | NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) | 46,XY sex reversal 9 [RCV001509753]|ZFPM2-related disorder [RCV003955613]|not provided [RCV004705809]|not specified [RCV001816959] | benign|likely benign | 8 | 105802572 | 105802572 | Human | 1 | name , trait , alternate_id |
| 15103624 | CV687159 | single nucleotide variant | NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) | 46,XY sex reversal 9 [RCV002064655] | likely benign | 8 | 105801096 | 105801096 | Human | 1 | name , alternate_id |
| 15097655 | CV687160 | single nucleotide variant | NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) | 46,XY sex reversal 9 [RCV001462541] | likely benign | 8 | 105801723 | 105801723 | Human | 1 | name , alternate_id |
| 15142185 | CV687161 | single nucleotide variant | NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) | 46,XY sex reversal 9 [RCV002062263] | likely benign | 8 | 105802344 | 105802344 | Human | 1 | name , alternate_id |
| 15162202 | CV687162 | single nucleotide variant | NM_012082.4(ZFPM2):c.2616C>T (p.His872=) | not provided [RCV000869376] | likely benign | 8 | 105802698 | 105802698 | Human | | name |
| 15168871 | CV722788 | single nucleotide variant | NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) | 46,XY sex reversal 9 [RCV002539312] | likely benign | 8 | 105801087 | 105801087 | Human | 1 | name , alternate_id |
| 15107495 | CV782981 | single nucleotide variant | NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) | 46,XY sex reversal 9 [RCV001402453] | likely benign | 8 | 105802800 | 105802800 | Human | 1 | name , alternate_id |
| 25318148 | CV805555 | deletion | NM_012082.4(ZFPM2):c.993del (p.Gly332fs) | not provided [RCV001008444] | likely pathogenic | 8 | 105801075 | 105801075 | Human | | name |
| 8632768 | CV87983 | single nucleotide variant | NM_012082.3(ZFPM2):c.1113C>T (p.Gly371=) | Malignant melanoma [RCV000068075] | not provided | 8 | 105801195 | 105801195 | Human | | name |
| 38461071 | CV919129 | single nucleotide variant | NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=) | Tetralogy of Fallot [RCV001197231] | uncertain significance | 8 | 105802320 | 105802320 | Human | 2 | name |
| 127259090 | CV1074980 | single nucleotide variant | NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) | 46,XY sex reversal 9 [RCV001419691]|Inborn genetic diseases [RCV002554080] | likely benign|uncertain significance | 8 | 105634261 | 105634261 | Human | 2 | name , alternate_id |
| 127239649 | CV1074983 | single nucleotide variant | NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=) | 46,XY sex reversal 9 [RCV001415403] | likely benign | 8 | 105803142 | 105803142 | Human | 1 | name , alternate_id |
| 127277318 | CV1074985 | single nucleotide variant | NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=) | 46,XY sex reversal 9 [RCV001407691] | likely benign | 8 | 105803520 | 105803520 | Human | 1 | name , alternate_id |
| 150528785 | CV1306089 | single nucleotide variant | NM_012082.4(ZFPM2):c.383C>T (p.Pro128Leu) | Inborn genetic diseases [RCV004968276]|not provided [RCV001755493] | uncertain significance | 8 | 105561444 | 105561444 | Human | 1 | name |
| 150552795 | CV1307272 | single nucleotide variant | NM_012082.4(ZFPM2):c.625G>A (p.Ala209Thr) | not provided [RCV001768384] | uncertain significance | 8 | 105788810 | 105788810 | Human | | name |
| 150533258 | CV1311090 | single nucleotide variant | NM_012082.4(ZFPM2):c.518T>C (p.Ile173Thr) | not provided [RCV001776825] | uncertain significance | 8 | 105634343 | 105634343 | Human | | name |
| 151783181 | CV1350146 | single nucleotide variant | NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) | 46,XY sex reversal 9 [RCV001989321] | uncertain significance | 8 | 105798744 | 105798744 | Human | 1 | name , alternate_id |
| 151771180 | CV1410869 | single nucleotide variant | NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) | 46,XY sex reversal 9 [RCV001971197]|Inborn genetic diseases [RCV003289331] | uncertain significance | 8 | 105561383 | 105561383 | Human | 2 | name , alternate_id |
| 151825442 | CV1429531 | single nucleotide variant | NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) | 46,XY sex reversal 9 [RCV001993188] | pathogenic | 8 | 105798915 | 105798915 | Human | 1 | name , alternate_id |
| 151862939 | CV1454286 | single nucleotide variant | NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) | 46,XY sex reversal 9 [RCV001938796] | uncertain significance | 8 | 105788778 | 105788778 | Human | 1 | name , alternate_id |
| 151717059 | CV1513184 | single nucleotide variant | NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) | 46,XY sex reversal 9 [RCV001890492]|not provided [RCV002292445] | likely benign|uncertain significance | 8 | 105634267 | 105634267 | Human | 1 | name , alternate_id |
| 152161594 | CV1555455 | single nucleotide variant | NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=) | 46,XY sex reversal 9 [RCV002103900] | likely benign | 8 | 105803313 | 105803313 | Human | 1 | name , alternate_id |
| 9589694 | CV166433 | single nucleotide variant | NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) | 46,XY sex reversal 9 [RCV000144725] | pathogenic|not provided | 8 | 105798763 | 105798763 | Human | 1 | name , alternate_id |
| 155265522 | CV1704881 | single nucleotide variant | NM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter) | Diaphragmatic hernia 3 [RCV002285126] | pathogenic | 8 | 105561410 | 105561410 | Human | 1 | name |
| 156347422 | CV1868466 | single nucleotide variant | NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu) | 46,XY sex reversal 9 [RCV003064592]|Inborn genetic diseases [RCV004070159] | uncertain significance | 8 | 105798829 | 105798829 | Human | 2 | name , alternate_id |
| 155965761 | CV1892044 | single nucleotide variant | NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile) | 46,XY sex reversal 9 [RCV003074923] | uncertain significance | 8 | 105798929 | 105798929 | Human | 1 | name , alternate_id |
| 156417643 | CV1967085 | single nucleotide variant | NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser) | 46,XY sex reversal 9 [RCV002590294] | uncertain significance | 8 | 105801073 | 105801073 | Human | 1 | name , alternate_id |
| 156387384 | CV1995898 | single nucleotide variant | NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=) | 46,XY sex reversal 9 [RCV002654087] | likely benign | 8 | 105803295 | 105803295 | Human | 1 | name , alternate_id |
| 156026961 | CV2039647 | single nucleotide variant | NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=) | 46,XY sex reversal 9 [RCV002780940] | likely benign | 8 | 105803385 | 105803385 | Human | 1 | name , alternate_id |
| 156206756 | CV2092763 | single nucleotide variant | NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=) | 46,XY sex reversal 9 [RCV002917998] | benign | 8 | 105803475 | 105803475 | Human | 1 | name , alternate_id |
| 8597048 | CV21168 | single nucleotide variant | NM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter) | Diaphragmatic hernia 3 [RCV000006503]|not provided [RCV001781192] | pathogenic|likely pathogenic | 8 | 105561395 | 105561395 | Human | 1 | name |
| 156357011 | CV2126138 | single nucleotide variant | NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe) | 46,XY sex reversal 9 [RCV002966732] | uncertain significance | 8 | 105798745 | 105798745 | Human | 1 | name , alternate_id |
| 156005840 | CV2290412 | single nucleotide variant | NM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro) | Inborn genetic diseases [RCV002883662] | uncertain significance | 8 | 105788747 | 105788747 | Human | 1 | name |
| 243062125 | CV2414331 | single nucleotide variant | NM_012082.4(ZFPM2):c.848T>C (p.Val283Ala) | not provided [RCV003139400] | uncertain significance | 8 | 105798832 | 105798832 | Human | | name |
| 243062126 | CV2414332 | single nucleotide variant | NM_012082.4(ZFPM2):c.665G>A (p.Arg222His) | not provided [RCV003139401] | uncertain significance | 8 | 105788850 | 105788850 | Human | | name |
| 243050048 | CV2417314 | single nucleotide variant | NM_012082.4(ZFPM2):c.416C>A (p.Ser139Tyr) | not provided [RCV003152186] | uncertain significance | 8 | 105561477 | 105561477 | Human | | name |
| 11548656 | CV252999 | single nucleotide variant | NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) | 46,XY sex reversal 3 [RCV001007700]|46,XY sex reversal 9 [RCV000559499]|not provided [RCV003311733]|not specified [RCV000249373] | benign|likely benign | 8 | 105788814 | 105788814 | Human | 2 | name , alternate_id |
| 11544902 | CV253007 | single nucleotide variant | NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) | 46,XY sex reversal 9 [RCV001515439]|not provided [RCV004712204]|not specified [RCV000244414] | benign | 8 | 105803289 | 105803289 | Human | 1 | name , alternate_id |
| 329847980 | CV2667599 | single nucleotide variant | NM_012082.4(ZFPM2):c.423G>T (p.Lys141Asn) | not provided [RCV003229166] | uncertain significance | 8 | 105634248 | 105634248 | Human | | name |
| 401773337 | CV2716531 | single nucleotide variant | NM_012082.4(ZFPM2):c.917G>A (p.Ser306Asn) | Inborn genetic diseases [RCV003304945] | uncertain significance | 8 | 105798901 | 105798901 | Human | 1 | name |
| 401927325 | CV2796899 | single nucleotide variant | NM_012082.4(ZFPM2):c.963T>G (p.Ser321Arg) | ZFPM2-related disorder [RCV003406161] | uncertain significance | 8 | 105798947 | 105798947 | Human | | name , trait , alternate_id |
| 401936155 | CV2802735 | single nucleotide variant | NM_012082.4(ZFPM2):c.662C>T (p.Ala221Val) | ZFPM2-related disorder [RCV003414126] | uncertain significance | 8 | 105788847 | 105788847 | Human | | name , trait , alternate_id |
| 405162878 | CV2872211 | single nucleotide variant | NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=) | 46,XY sex reversal 9 [RCV003586883] | likely benign | 8 | 105803448 | 105803448 | Human | 1 | name , alternate_id |
| 405164447 | CV2879363 | single nucleotide variant | NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser) | 46,XY sex reversal 9 [RCV003586903] | uncertain significance | 8 | 105798844 | 105798844 | Human | 1 | name , alternate_id |
| 405168685 | CV2894772 | single nucleotide variant | NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly) | 46,XY sex reversal 9 [RCV003587389] | uncertain significance | 8 | 105798826 | 105798826 | Human | 1 | name , alternate_id |
| 405102026 | CV2949622 | single nucleotide variant | NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu) | 46,XY sex reversal 9 [RCV003749153] | uncertain significance | 8 | 105634302 | 105634302 | Human | 1 | name , alternate_id |
| 405101993 | CV3070899 | single nucleotide variant | NM_012082.4(ZFPM2):c.959A>G (p.His320Arg) | 46,XY sex reversal 9 [RCV003749135] | uncertain significance | 8 | 105798943 | 105798943 | Human | 1 | name , alternate_id |
| 405103604 | CV3071798 | single nucleotide variant | NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp) | 46,XY sex reversal 9 [RCV003749710] | uncertain significance | 8 | 105798771 | 105798771 | Human | 1 | name , alternate_id |
| 405669568 | CV3360397 | single nucleotide variant | NM_012082.4(ZFPM2):c.333A>C (p.Glu111Asp) | Inborn genetic diseases [RCV004486204] | uncertain significance | 8 | 105561394 | 105561394 | Human | 1 | name |
| 405669575 | CV3360398 | single nucleotide variant | NM_012082.4(ZFPM2):c.354G>T (p.Gln118His) | Inborn genetic diseases [RCV004486205] | uncertain significance | 8 | 105561415 | 105561415 | Human | 1 | name |
| 405669585 | CV3360400 | single nucleotide variant | NM_012082.4(ZFPM2):c.358C>T (p.Leu120Phe) | Inborn genetic diseases [RCV004486207] | uncertain significance | 8 | 105561419 | 105561419 | Human | 1 | name |
| 405669591 | CV3360401 | single nucleotide variant | NM_012082.4(ZFPM2):c.778C>T (p.Arg260Trp) | Inborn genetic diseases [RCV004486208] | uncertain significance | 8 | 105798762 | 105798762 | Human | 1 | name |
| 407459209 | CV3490202 | single nucleotide variant | NM_012082.4(ZFPM2):c.434A>C (p.Gln145Pro) | Inborn genetic diseases [RCV004687075] | uncertain significance | 8 | 105634259 | 105634259 | Human | 1 | name |
| 407459213 | CV3490204 | single nucleotide variant | NM_012082.4(ZFPM2):c.488A>C (p.Gln163Pro) | Inborn genetic diseases [RCV004687077] | uncertain significance | 8 | 105634313 | 105634313 | Human | 1 | name |
| 408391641 | CV3523293 | single nucleotide variant | NM_012082.4(ZFPM2):c.563C>T (p.Ala188Val) | not provided [RCV004770666] | uncertain significance | 8 | 105788748 | 105788748 | Human | | name |
| 408387378 | CV3527040 | single nucleotide variant | NM_012082.4(ZFPM2):c.673G>C (p.Asp225His) | not provided [RCV004773342] | uncertain significance | 8 | 105788858 | 105788858 | Human | | name |
| 597625808 | CV3624761 | single nucleotide variant | NM_012082.4(ZFPM2):c.439C>T (p.Pro147Ser) | Inborn genetic diseases [RCV004964782] | uncertain significance | 8 | 105634264 | 105634264 | Human | 1 | name |
| 597934830 | CV3845129 | single nucleotide variant | NM_012082.4(ZFPM2):c.478G>A (p.Val160Met) | 46,XY sex reversal 9 [RCV005186442] | uncertain significance | 8 | 105634303 | 105634303 | Human | 1 | name , alternate_id |
| 597886681 | CV3855194 | single nucleotide variant | NM_012082.4(ZFPM2):c.490G>A (p.Gly164Arg) | 46,XY sex reversal 9 [RCV005199839] | uncertain significance | 8 | 105634315 | 105634315 | Human | 1 | name , alternate_id |
| 597892204 | CV3856662 | single nucleotide variant | NM_012082.4(ZFPM2):c.452C>T (p.Thr151Ile) | 46,XY sex reversal 9 [RCV005200728] | uncertain significance | 8 | 105634277 | 105634277 | Human | 1 | name , alternate_id |
| 597931970 | CV3863313 | single nucleotide variant | NM_012082.4(ZFPM2):c.445G>A (p.Val149Met) | 46,XY sex reversal 9 [RCV005206839] | uncertain significance | 8 | 105634270 | 105634270 | Human | 1 | name , alternate_id |
| 598175543 | CV3891008 | single nucleotide variant | NM_012082.4(ZFPM2):c.541C>T (p.Leu181Phe) | not provided [RCV005251861] | uncertain significance | 8 | 105788726 | 105788726 | Human | | name |
| 12887792 | CV396544 | single nucleotide variant | NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) | 46,XY sex reversal 9 [RCV000469703]|not provided [RCV004712860]|not specified [RCV003230508] | benign | 8 | 105803451 | 105803451 | Human | 1 | name , alternate_id |
| 598190187 | CV4008801 | single nucleotide variant | NM_012082.4(ZFPM2):c.350G>A (p.Arg117Gln) | Diaphragmatic hernia 3 [RCV005396300] | uncertain significance | 8 | 105561411 | 105561411 | Human | 2 | name , alternate_id |
| 598190194 | CV4008802 | single nucleotide variant | NM_012082.4(ZFPM2):c.931C>G (p.Arg311Gly) | Diaphragmatic hernia 3 [RCV005396301] | uncertain significance | 8 | 105798915 | 105798915 | Human | 2 | name , alternate_id |
| 617149659 | CV4017616 | single nucleotide variant | NM_012082.4(ZFPM2):c.830A>T (p.Gln277Leu) | not provided [RCV005417274] | uncertain significance | 8 | 105798814 | 105798814 | Human | | name |
| 13483264 | CV457735 | single nucleotide variant | NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) | 46,XY sex reversal 9 [RCV000529779]|not provided [RCV003139869] | uncertain significance | 8 | 105561425 | 105561425 | Human | 1 | name , alternate_id |
| 13471344 | CV457765 | single nucleotide variant | NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) | 46,XY sex reversal 9 [RCV000546799] | uncertain significance | 8 | 105634269 | 105634269 | Human | 1 | name , alternate_id |
| 13470479 | CV457768 | single nucleotide variant | NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) | 46,XY sex reversal 9 [RCV000546178]|not provided [RCV004712889] | benign | 8 | 105803160 | 105803160 | Human | 1 | name , alternate_id |
| 8604267 | CV48116 | single nucleotide variant | NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) | Double outlet right ventricle [RCV000032714] | pathogenic | 8 | 105788866 | 105788866 | Human | 2 | name |
| 15126379 | CV683962 | single nucleotide variant | NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) | 46,XY sex reversal 9 [RCV000862743]|ZFPM2-related disorder [RCV004745621]|not provided [RCV001766772] | likely benign|uncertain significance | 8 | 105788864 | 105788864 | Human | 1 | name , trait , alternate_id |
| 26922948 | CV834032 | single nucleotide variant | NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) | 46,XY sex reversal 9 [RCV001063029]|Inborn genetic diseases [RCV003160513] | uncertain significance | 8 | 105788802 | 105788802 | Human | 2 | name , alternate_id |
| 8632770 | CV87985 | single nucleotide variant | NM_012082.3(ZFPM2):c.3054G>A (p.Gln1018=) | Malignant melanoma [RCV000068077] | not provided | 8 | 105803136 | 105803136 | Human | | name |
| 38462542 | CV934062 | single nucleotide variant | NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) | 46,XY sex reversal 9 [RCV001212216]|Inborn genetic diseases [RCV002562381] | uncertain significance | 8 | 105634288 | 105634288 | Human | 2 | name , alternate_id |
| 126747354 | CV992539 | single nucleotide variant | NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) | 46,XY sex reversal 9 [RCV001306233] | uncertain significance | 8 | 105788849 | 105788849 | Human | 1 | name , alternate_id |
| 126743842 | CV1007732 | single nucleotide variant | NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) | 46,XY sex reversal 9 [RCV001325678] | uncertain significance | 8 | 105802675 | 105802675 | Human | 1 | name , alternate_id |
| 126745911 | CV1007733 | single nucleotide variant | NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) | 46,XY sex reversal 9 [RCV001325942] | uncertain significance | 8 | 105802715 | 105802715 | Human | 1 | name , alternate_id |
| 126759111 | CV1007734 | single nucleotide variant | NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) | 46,XY sex reversal 9 [RCV001317970] | uncertain significance | 8 | 105802985 | 105802985 | Human | 1 | name , alternate_id |
| 126726006 | CV1016983 | single nucleotide variant | NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr) | Tetralogy of Fallot [RCV001331729] | uncertain significance | 8 | 105801128 | 105801128 | Human | 2 | name |
| 126726009 | CV1016984 | single nucleotide variant | NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His) | Tetralogy of Fallot [RCV001331730] | uncertain significance | 8 | 105802283 | 105802283 | Human | 2 | name |
| 126744002 | CV1028268 | single nucleotide variant | NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) | 46,XY sex reversal 9 [RCV001351220] | uncertain significance | 8 | 105801803 | 105801803 | Human | 1 | name , alternate_id |
| 126922152 | CV1045218 | single nucleotide variant | NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) | 46,XY sex reversal 9 [RCV001364333] | uncertain significance | 8 | 105802312 | 105802312 | Human | 1 | name , alternate_id |
| 126915873 | CV1045219 | single nucleotide variant | NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) | 46,XY sex reversal 9 [RCV001371173] | uncertain significance | 8 | 105802377 | 105802377 | Human | 1 | name , alternate_id |
| 127333886 | CV1139083 | single nucleotide variant | NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) | 46,XY sex reversal 9 [RCV001490441]|Inborn genetic diseases [RCV004037306]|not specified [RCV001820190] | likely benign|uncertain significance | 8 | 105801242 | 105801242 | Human | 2 | name , alternate_id |
| 150427579 | CV1187300 | single nucleotide variant | NM_012082.4(ZFPM2):c.2537C>T (p.Ser846Phe) | not provided [RCV001561110] | uncertain significance | 8 | 105802619 | 105802619 | Human | | name |
| 150552610 | CV1306469 | single nucleotide variant | NM_012082.4(ZFPM2):c.2482G>A (p.Val828Met) | not provided [RCV001768091] | uncertain significance | 8 | 105802564 | 105802564 | Human | | name |
| 150552758 | CV1307231 | single nucleotide variant | NM_012082.4(ZFPM2):c.2705G>A (p.Arg902Gln) | not provided [RCV001768343] | uncertain significance | 8 | 105802787 | 105802787 | Human | | name |
| 150528931 | CV1307443 | single nucleotide variant | NM_012082.4(ZFPM2):c.2357C>T (p.Pro786Leu) | not provided [RCV001755580] | uncertain significance | 8 | 105802439 | 105802439 | Human | | name |
| 150552687 | CV1308423 | single nucleotide variant | NM_012082.4(ZFPM2):c.1450G>A (p.Val484Ile) | not provided [RCV001768263] | uncertain significance | 8 | 105801532 | 105801532 | Human | | name |
| 150533348 | CV1311128 | single nucleotide variant | NM_012082.4(ZFPM2):c.2093G>A (p.Arg698Gln) | not provided [RCV001776863] | uncertain significance | 8 | 105802175 | 105802175 | Human | | name |
| 151748657 | CV1383284 | single nucleotide variant | NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) | 46,XY sex reversal 9 [RCV001947900] | uncertain significance | 8 | 105801721 | 105801721 | Human | 1 | name , alternate_id |
| 151712820 | CV1423404 | single nucleotide variant | NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) | 46,XY sex reversal 9 [RCV002002316] | uncertain significance | 8 | 105801775 | 105801775 | Human | 1 | name , alternate_id |
| 151850376 | CV1450263 | single nucleotide variant | NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) | 46,XY sex reversal 9 [RCV001922697] | uncertain significance | 8 | 105802627 | 105802627 | Human | 1 | name , alternate_id |
| 151751633 | CV1464214 | single nucleotide variant | NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) | 46,XY sex reversal 9 [RCV001948193] | uncertain significance | 8 | 105802844 | 105802844 | Human | 1 | name , alternate_id |
| 151834011 | CV1479245 | single nucleotide variant | NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) | 46,XY sex reversal 9 [RCV002051007] | uncertain significance | 8 | 105802841 | 105802841 | Human | 1 | name , alternate_id |
| 151811258 | CV1506683 | single nucleotide variant | NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) | 46,XY sex reversal 9 [RCV001918632] | uncertain significance | 8 | 105802475 | 105802475 | Human | 1 | name , alternate_id |
| 151866217 | CV1508212 | single nucleotide variant | NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) | 46,XY sex reversal 9 [RCV001997761] | uncertain significance | 8 | 105802616 | 105802616 | Human | 1 | name , alternate_id |
| 152114918 | CV1659714 | single nucleotide variant | NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) | 46,XY sex reversal 9 [RCV002080760]|Diaphragmatic hernia 3 [RCV002507931]|ZFPM2-related disorder [RCV003950984] | likely benign | 8 | 105803045 | 105803045 | Human | 4 | name , trait , alternate_id |
| 9589693 | CV166432 | single nucleotide variant | NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) | 46,XY sex reversal 9 [RCV000144724] | pathogenic | 8 | 105801288 | 105801288 | Human | 1 | name , alternate_id |
| 153349770 | CV1693944 | single nucleotide variant | NM_012082.4(ZFPM2):c.1663A>C (p.Ile555Leu) | not provided [RCV002276189] | uncertain significance | 8 | 105801745 | 105801745 | Human | | name |
| 155268494 | CV1705379 | single nucleotide variant | NM_012082.4(ZFPM2):c.2499C>A (p.Ser833Arg) | not provided [RCV002285984] | uncertain significance | 8 | 105802581 | 105802581 | Human | | name |
| 156219141 | CV1879121 | single nucleotide variant | NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp) | 46,XY sex reversal 9 [RCV003058855]|Inborn genetic diseases [RCV003058856] | uncertain significance | 8 | 105801674 | 105801674 | Human | 2 | name , alternate_id |
| 156419480 | CV1967201 | single nucleotide variant | NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His) | 46,XY sex reversal 9 [RCV002612717] | uncertain significance | 8 | 105802289 | 105802289 | Human | 1 | name , alternate_id |
| 8597046 | CV21166 | single nucleotide variant | NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) | 46,XY sex reversal 9 [RCV000467901]|Diaphragmatic hernia 3 [RCV005394127]|Tetralogy of Fallot [RCV000006501]|not provided [RCV004711996]|not specified [RCV003230349] | pathogenic|benign|likely benign | 8 | 105802051 | 105802051 | Human | 4 | name , alternate_id |
| 8597049 | CV21169 | single nucleotide variant | NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) | 46,XY sex reversal 3 [RCV001007705]|46,XY sex reversal 9 [RCV000861889]|Diaphragmatic hernia 3 [RCV000006504]|Diaphragmatic hernia 3 [RCV005394128]|Double outlet right ventricle [RCV000032715]|ZFPM2-related disorder [RCV003914814]|not provided [RCV001529320]|not specified [RCV003330385] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 105802189 | 105802189 | Human | 7 | name , trait , alternate_id |
| 8597050 | CV21170 | single nucleotide variant | NM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala) | Diaphragmatic hernia 3 [RCV000006505] | pathogenic | 8 | 105802609 | 105802609 | Human | 1 | name |
| 156221708 | CV2124392 | single nucleotide variant | NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met) | 46,XY sex reversal 9 [RCV002958166]|Inborn genetic diseases [RCV004067308] | uncertain significance | 8 | 105802493 | 105802493 | Human | 2 | name , alternate_id |
| 156259336 | CV2159407 | single nucleotide variant | NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu) | 46,XY sex reversal 9 [RCV003026606] | uncertain significance | 8 | 105802575 | 105802575 | Human | 1 | name , alternate_id |
| 156228541 | CV2176601 | single nucleotide variant | NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg) | 46,XY sex reversal 9 [RCV003059215] | uncertain significance | 8 | 105801809 | 105801809 | Human | 1 | name , alternate_id |
| 156183595 | CV2243303 | single nucleotide variant | NM_012082.4(ZFPM2):c.2674G>A (p.Gly892Ser) | Inborn genetic diseases [RCV002802427] | likely benign | 8 | 105802756 | 105802756 | Human | 1 | name |
| 156368197 | CV2266957 | single nucleotide variant | NM_012082.4(ZFPM2):c.2914A>G (p.Ile972Val) | Inborn genetic diseases [RCV002813876] | uncertain significance | 8 | 105802996 | 105802996 | Human | 1 | name |
| 156184122 | CV2292209 | single nucleotide variant | NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met) | 46,XY sex reversal 9 [RCV003748454]|Inborn genetic diseases [RCV002873847]|not provided [RCV003140177] | uncertain significance | 8 | 105801431 | 105801431 | Human | 2 | name , alternate_id |
| 156080646 | CV2292712 | single nucleotide variant | NM_012082.4(ZFPM2):c.1931A>C (p.Lys644Thr) | Inborn genetic diseases [RCV002869236] | uncertain significance | 8 | 105802013 | 105802013 | Human | 1 | name |
| 156097420 | CV2310265 | single nucleotide variant | NM_012082.4(ZFPM2):c.1975A>G (p.Asn659Asp) | Inborn genetic diseases [RCV002888413] | uncertain significance | 8 | 105802057 | 105802057 | Human | 1 | name |
| 156173949 | CV2326897 | single nucleotide variant | NM_012082.4(ZFPM2):c.2161T>C (p.Ser721Pro) | Inborn genetic diseases [RCV002929998] | uncertain significance | 8 | 105802243 | 105802243 | Human | 1 | name |
| 156087141 | CV2336911 | single nucleotide variant | NM_012082.4(ZFPM2):c.2783A>G (p.Asn928Ser) | Inborn genetic diseases [RCV002952149] | uncertain significance | 8 | 105802865 | 105802865 | Human | 1 | name |
| 156052529 | CV2388468 | single nucleotide variant | NM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr) | Inborn genetic diseases [RCV002759432]|ZFPM2-related disorder [RCV003963791] | uncertain significance | 8 | 105801277 | 105801277 | Human | 1 | name , trait , alternate_id |
| 11347819 | CV240220 | single nucleotide variant | NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) | 46,XY sex reversal 9 [RCV000233426] | uncertain significance | 8 | 105802178 | 105802178 | Human | 1 | name , alternate_id |
| 11348589 | CV240221 | single nucleotide variant | NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) | 46,XY sex reversal 9 [RCV000227236]|not provided [RCV004712181]|not specified [RCV001820747] | benign|likely benign | 8 | 105802747 | 105802747 | Human | 1 | name , alternate_id |
| 243059117 | CV2415594 | single nucleotide variant | NM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro) | Diaphragmatic hernia 3 [RCV003148194] | uncertain significance | 8 | 105802246 | 105802246 | Human | 1 | name |
| 243050262 | CV2417394 | single nucleotide variant | NM_012082.4(ZFPM2):c.1655A>G (p.Glu552Gly) | not provided [RCV003152266] | uncertain significance | 8 | 105801737 | 105801737 | Human | | name |
| 329370828 | CV2461813 | single nucleotide variant | NM_012082.4(ZFPM2):c.1237G>A (p.Asp413Asn) | Inborn genetic diseases [RCV003209497] | uncertain significance | 8 | 105801319 | 105801319 | Human | 1 | name |
| 11546774 | CV253000 | single nucleotide variant | NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) | 46,XY sex reversal 9 [RCV001510929]|not provided [RCV001683062]|not specified [RCV000246895] | benign|likely benign | 8 | 105801290 | 105801290 | Human | 1 | name , alternate_id |
| 11550756 | CV253004 | single nucleotide variant | NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) | 46,XY sex reversal 9 [RCV001515297]|not provided [RCV001668525]|not specified [RCV000252167] | benign|likely benign | 8 | 105802428 | 105802428 | Human | 1 | name , alternate_id |
| 329952537 | CV2671822 | single nucleotide variant | NM_012082.4(ZFPM2):c.1838C>T (p.Ser613Phe) | not provided [RCV003237219] | uncertain significance | 8 | 105801920 | 105801920 | Human | | name |
| 401757598 | CV2675402 | single nucleotide variant | NM_012082.4(ZFPM2):c.2084C>T (p.Thr695Ile) | Inborn genetic diseases [RCV003279431] | uncertain significance | 8 | 105802166 | 105802166 | Human | 1 | name |
| 401722851 | CV2677118 | single nucleotide variant | NM_012082.4(ZFPM2):c.1975A>C (p.Asn659His) | Inborn genetic diseases [RCV003244987] | uncertain significance | 8 | 105802057 | 105802057 | Human | 1 | name |
| 401737163 | CV2699746 | single nucleotide variant | NM_012082.4(ZFPM2):c.2049C>G (p.Asp683Glu) | Inborn genetic diseases [RCV003291488] | uncertain significance | 8 | 105802131 | 105802131 | Human | 1 | name |
| 401733802 | CV2713222 | single nucleotide variant | NM_012082.4(ZFPM2):c.2171A>G (p.Asn724Ser) | Inborn genetic diseases [RCV003272433] | uncertain significance | 8 | 105802253 | 105802253 | Human | 1 | name |
| 401722079 | CV2737618 | single nucleotide variant | NM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter) | not provided [RCV003314790] | likely pathogenic | 8 | 105801661 | 105801661 | Human | | name |
| 401895714 | CV2771663 | single nucleotide variant | NM_012082.4(ZFPM2):c.2733A>C (p.Arg911Ser) | Inborn genetic diseases [RCV003373339] | uncertain significance | 8 | 105802815 | 105802815 | Human | 1 | name |
| 401920153 | CV2796454 | single nucleotide variant | NM_012082.4(ZFPM2):c.1100A>G (p.His367Arg) | ZFPM2-related disorder [RCV003402490] | uncertain significance | 8 | 105801182 | 105801182 | Human | | name , trait , alternate_id |
| 401913559 | CV2801826 | single nucleotide variant | NM_012082.4(ZFPM2):c.2159G>A (p.Arg720Lys) | ZFPM2-related disorder [RCV003400164] | uncertain significance | 8 | 105802241 | 105802241 | Human | | name , trait , alternate_id |
| 401934724 | CV2802791 | single nucleotide variant | NM_012082.4(ZFPM2):c.1226A>G (p.Gln409Arg) | ZFPM2-related disorder [RCV003412151] | uncertain significance | 8 | 105801308 | 105801308 | Human | | name , trait , alternate_id |
| 401924103 | CV2821228 | single nucleotide variant | NM_012082.4(ZFPM2):c.2638A>G (p.Thr880Ala) | not provided [RCV003435587] | uncertain significance | 8 | 105802720 | 105802720 | Human | | name |
| 401917263 | CV2829759 | single nucleotide variant | NM_012082.4(ZFPM2):c.2168C>A (p.Ser723Tyr) | not provided [RCV003443803] | uncertain significance | 8 | 105802250 | 105802250 | Human | | name |
| 401944282 | CV2840677 | single nucleotide variant | NM_012082.4(ZFPM2):c.1756A>G (p.Ser586Gly) | not provided [RCV003457163] | likely benign | 8 | 105801838 | 105801838 | Human | | name |
| 405164385 | CV2870016 | single nucleotide variant | NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly) | 46,XY sex reversal 9 [RCV003587007]|Inborn genetic diseases [RCV004369114] | uncertain significance | 8 | 105801265 | 105801265 | Human | 2 | name , alternate_id |
| 405168214 | CV2894012 | single nucleotide variant | NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser) | 46,XY sex reversal 9 [RCV003587346] | uncertain significance | 8 | 105801538 | 105801538 | Human | 1 | name , alternate_id |
| 405176131 | CV2927482 | single nucleotide variant | NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn) | 46,XY sex reversal 9 [RCV003588048]|ZFPM2-related disorder [RCV003901213] | uncertain significance | 8 | 105801268 | 105801268 | Human | 1 | name , trait , alternate_id |
| 405252688 | CV2947812 | single nucleotide variant | NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly) | 46,XY sex reversal 9 [RCV003748585] | uncertain significance | 8 | 105801974 | 105801974 | Human | 1 | name , alternate_id |
| 405104534 | CV2992729 | single nucleotide variant | NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu) | 46,XY sex reversal 9 [RCV003750047]|ZFPM2-related disorder [RCV003966561] | uncertain significance | 8 | 105802755 | 105802755 | Human | 1 | name , trait , alternate_id |
| 405104357 | CV2994998 | single nucleotide variant | NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His) | 46,XY sex reversal 9 [RCV003749983] | uncertain significance | 8 | 105802229 | 105802229 | Human | 1 | name , alternate_id |
| 405250808 | CV3006855 | single nucleotide variant | NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala) | 46,XY sex reversal 9 [RCV003747707] | uncertain significance | 8 | 105802393 | 105802393 | Human | 1 | name , alternate_id |
| 405103677 | CV3074661 | single nucleotide variant | NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr) | 46,XY sex reversal 9 [RCV003749736]|Diaphragmatic hernia 3 [RCV005392692]|Inborn genetic diseases [RCV004374339] | likely benign|uncertain significance | 8 | 105801545 | 105801545 | Human | 4 | name , alternate_id |
| 405103425 | CV3076309 | single nucleotide variant | NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn) | 46,XY sex reversal 9 [RCV003749645] | uncertain significance | 8 | 105801495 | 105801495 | Human | 1 | name , alternate_id |
| 405042234 | CV3141206 | single nucleotide variant | NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly) | 46,XY sex reversal 9 [RCV003831499] | uncertain significance | 8 | 105801868 | 105801868 | Human | 1 | name , alternate_id |
| 405294483 | CV3211690 | single nucleotide variant | NM_012082.4(ZFPM2):c.2021G>A (p.Ser674Asn) | ZFPM2-related disorder [RCV003934425] | uncertain significance | 8 | 105802103 | 105802103 | Human | | name , trait , alternate_id |
| 405699841 | CV3227176 | single nucleotide variant | NM_012082.4(ZFPM2):c.2189A>G (p.Gln730Arg) | 46,XY sex reversal 9 [RCV003993527] | uncertain significance | 8 | 105802271 | 105802271 | Human | 1 | name , alternate_id |
| 405669529 | CV3360390 | single nucleotide variant | NM_012082.4(ZFPM2):c.1039G>A (p.Val347Met) | Inborn genetic diseases [RCV004486197] | uncertain significance | 8 | 105801121 | 105801121 | Human | 1 | name |
| 405669534 | CV3360391 | single nucleotide variant | NM_012082.4(ZFPM2):c.1196A>G (p.His399Arg) | Inborn genetic diseases [RCV004486198] | uncertain significance | 8 | 105801278 | 105801278 | Human | 1 | name |
| 405669546 | CV3360393 | single nucleotide variant | NM_012082.4(ZFPM2):c.1358G>T (p.Arg453Ile) | Inborn genetic diseases [RCV004486200] | uncertain significance | 8 | 105801440 | 105801440 | Human | 1 | name |
| 405669552 | CV3360394 | single nucleotide variant | NM_012082.4(ZFPM2):c.1402A>T (p.Thr468Ser) | Inborn genetic diseases [RCV004486201] | uncertain significance | 8 | 105801484 | 105801484 | Human | 1 | name |
| 405669558 | CV3360395 | single nucleotide variant | NM_012082.4(ZFPM2):c.2468G>C (p.Cys823Ser) | Inborn genetic diseases [RCV004486202] | uncertain significance | 8 | 105802550 | 105802550 | Human | 1 | name |
| 407459197 | CV3490198 | single nucleotide variant | NM_012082.4(ZFPM2):c.1527G>T (p.Met509Ile) | Inborn genetic diseases [RCV004687071] | uncertain significance | 8 | 105801609 | 105801609 | Human | 1 | name |
| 407459202 | CV3490200 | single nucleotide variant | NM_012082.4(ZFPM2):c.2713C>T (p.Pro905Ser) | Inborn genetic diseases [RCV004687073] | uncertain significance | 8 | 105802795 | 105802795 | Human | 1 | name |
| 407459205 | CV3490201 | single nucleotide variant | NM_012082.4(ZFPM2):c.1666A>T (p.Thr556Ser) | Inborn genetic diseases [RCV004687074] | uncertain significance | 8 | 105801748 | 105801748 | Human | 1 | name |
| 407459211 | CV3490203 | single nucleotide variant | NM_012082.4(ZFPM2):c.2206C>G (p.Arg736Gly) | Inborn genetic diseases [RCV004687076] | uncertain significance | 8 | 105802288 | 105802288 | Human | 1 | name |
| 408375080 | CV3509797 | single nucleotide variant | NM_012082.4(ZFPM2):c.2909G>C (p.Gly970Ala) | ZFPM2-related disorder [RCV004747772] | uncertain significance | 8 | 105802991 | 105802991 | Human | | name , trait , alternate_id |
| 408387696 | CV3518951 | single nucleotide variant | NM_012082.4(ZFPM2):c.1793A>T (p.Asn598Ile) | not provided [RCV004761270] | uncertain significance | 8 | 105801875 | 105801875 | Human | | name |
| 408380811 | CV3523667 | single nucleotide variant | NM_012082.4(ZFPM2):c.2306C>T (p.Pro769Leu) | not provided [RCV004766065] | uncertain significance | 8 | 105802388 | 105802388 | Human | | name |
| 408387449 | CV3524539 | single nucleotide variant | NM_012082.4(ZFPM2):c.1875C>G (p.Cys625Trp) | not provided [RCV004768413] | uncertain significance | 8 | 105801957 | 105801957 | Human | | name |
| 408392209 | CV3528034 | single nucleotide variant | NM_012082.4(ZFPM2):c.2228A>G (p.Glu743Gly) | not provided [RCV004775802] | uncertain significance | 8 | 105802310 | 105802310 | Human | | name |
| 596922425 | CV3537170 | single nucleotide variant | NM_012082.4(ZFPM2):c.1484G>T (p.Gly495Val) | not provided [RCV004786166] | uncertain significance | 8 | 105801566 | 105801566 | Human | | name |
| 597625797 | CV3624754 | single nucleotide variant | NM_012082.4(ZFPM2):c.2854A>G (p.Ile952Val) | Inborn genetic diseases [RCV004964776] | uncertain significance | 8 | 105802936 | 105802936 | Human | 1 | name |
| 597625801 | CV3624756 | single nucleotide variant | NM_012082.4(ZFPM2):c.2940G>C (p.Gln980His) | Inborn genetic diseases [RCV004964778] | uncertain significance | 8 | 105803022 | 105803022 | Human | 1 | name |
| 597625803 | CV3624757 | single nucleotide variant | NM_012082.4(ZFPM2):c.2681T>G (p.Val894Gly) | Inborn genetic diseases [RCV004964779] | uncertain significance | 8 | 105802763 | 105802763 | Human | 1 | name |
| 597625804 | CV3624758 | single nucleotide variant | NM_012082.4(ZFPM2):c.1211C>A (p.Thr404Asn) | Inborn genetic diseases [RCV004964780] | uncertain significance | 8 | 105801293 | 105801293 | Human | 1 | name |
| 597625806 | CV3624759 | single nucleotide variant | NM_012082.4(ZFPM2):c.2696A>G (p.Glu899Gly) | Inborn genetic diseases [RCV004964781] | uncertain significance | 8 | 105802778 | 105802778 | Human | 1 | name |
| 597625809 | CV3624762 | single nucleotide variant | NM_012082.4(ZFPM2):c.2540C>T (p.Pro847Leu) | Inborn genetic diseases [RCV004964783] | uncertain significance | 8 | 105802622 | 105802622 | Human | 1 | name |
| 597625813 | CV3624764 | single nucleotide variant | NM_012082.4(ZFPM2):c.1681G>C (p.Asp561His) | Inborn genetic diseases [RCV004964785] | uncertain significance | 8 | 105801763 | 105801763 | Human | 1 | name |
| 597625816 | CV3624766 | single nucleotide variant | NM_012082.4(ZFPM2):c.2852T>C (p.Leu951Pro) | Inborn genetic diseases [RCV004964787] | uncertain significance | 8 | 105802934 | 105802934 | Human | 1 | name |
| 597625818 | CV3624767 | single nucleotide variant | NM_012082.4(ZFPM2):c.2939A>G (p.Gln980Arg) | Inborn genetic diseases [RCV004964788] | uncertain significance | 8 | 105803021 | 105803021 | Human | 1 | name |
| 597718323 | CV3733412 | single nucleotide variant | NM_012082.4(ZFPM2):c.2549T>G (p.Leu850Arg) | not provided [RCV005052602] | uncertain significance | 8 | 105802631 | 105802631 | Human | | name |
| 597889385 | CV3762733 | single nucleotide variant | NM_012082.4(ZFPM2):c.2336G>A (p.Gly779Glu) | 46,XY sex reversal 9 [RCV005110506] | uncertain significance | 8 | 105802418 | 105802418 | Human | 1 | name , alternate_id |
| 597909116 | CV3781962 | single nucleotide variant | NM_012082.4(ZFPM2):c.1510C>T (p.Pro504Ser) | 46,XY sex reversal 9 [RCV005128454] | uncertain significance | 8 | 105801592 | 105801592 | Human | 1 | name , alternate_id |
| 597953707 | CV3786515 | single nucleotide variant | NM_012082.4(ZFPM2):c.1359A>C (p.Arg453Ser) | 46,XY sex reversal 9 [RCV005121606] | uncertain significance | 8 | 105801441 | 105801441 | Human | 1 | name , alternate_id |
| 597870389 | CV3799800 | single nucleotide variant | NM_012082.4(ZFPM2):c.1477C>T (p.Pro493Ser) | 46,XY sex reversal 9 [RCV005148214] | uncertain significance | 8 | 105801559 | 105801559 | Human | 1 | name , alternate_id |
| 597908376 | CV3806110 | single nucleotide variant | NM_012082.4(ZFPM2):c.2261C>A (p.Pro754Gln) | 46,XY sex reversal 9 [RCV005153868] | uncertain significance | 8 | 105802343 | 105802343 | Human | 1 | name , alternate_id |
| 597875713 | CV3816820 | single nucleotide variant | NM_012082.4(ZFPM2):c.1334C>T (p.Thr445Ile) | 46,XY sex reversal 9 [RCV005148873] | uncertain significance | 8 | 105801416 | 105801416 | Human | 1 | name , alternate_id |
| 597972787 | CV3819916 | single nucleotide variant | NM_012082.4(ZFPM2):c.2794T>C (p.Phe932Leu) | 46,XY sex reversal 9 [RCV005167630] | uncertain significance | 8 | 105802876 | 105802876 | Human | 1 | name , alternate_id |
| 597966930 | CV3823747 | single nucleotide variant | NM_012082.4(ZFPM2):c.1758T>A (p.Ser586Arg) | 46,XY sex reversal 9 [RCV005165167] | uncertain significance | 8 | 105801840 | 105801840 | Human | 1 | name , alternate_id |
| 597911153 | CV3830260 | single nucleotide variant | NM_012082.4(ZFPM2):c.2449A>T (p.Thr817Ser) | 46,XY sex reversal 9 [RCV005182830] | uncertain significance | 8 | 105802531 | 105802531 | Human | 1 | name , alternate_id |
| 597900872 | CV3835338 | single nucleotide variant | NM_012082.4(ZFPM2):c.1667C>T (p.Thr556Ile) | 46,XY sex reversal 9 [RCV005181060] | likely benign | 8 | 105801749 | 105801749 | Human | 1 | name , alternate_id |
| 597930252 | CV3837547 | single nucleotide variant | NM_012082.4(ZFPM2):c.2230A>C (p.Met744Leu) | 46,XY sex reversal 9 [RCV005185705] | uncertain significance | 8 | 105802312 | 105802312 | Human | 1 | name , alternate_id |
| 597957559 | CV3838516 | single nucleotide variant | NM_012082.4(ZFPM2):c.1313T>C (p.Leu438Pro) | 46,XY sex reversal 9 [RCV005191891] | uncertain significance | 8 | 105801395 | 105801395 | Human | 1 | name , alternate_id |
| 597873840 | CV3849940 | single nucleotide variant | NM_012082.4(ZFPM2):c.1631T>C (p.Met544Thr) | 46,XY sex reversal 9 [RCV005197929] | uncertain significance | 8 | 105801713 | 105801713 | Human | 1 | name , alternate_id |
| 598205020 | CV3896771 | single nucleotide variant | NM_012082.4(ZFPM2):c.2875A>T (p.Arg959Ter) | Diaphragmatic hernia 3 [RCV005356952] | uncertain significance | 8 | 105802957 | 105802957 | Human | 1 | name , alternate_id |
| 598259824 | CV3937773 | single nucleotide variant | NM_012082.4(ZFPM2):c.1126A>G (p.Arg376Gly) | Inborn genetic diseases [RCV005300302] | uncertain significance | 8 | 105801208 | 105801208 | Human | 1 | name |
| 598159067 | CV3937774 | single nucleotide variant | NM_012082.4(ZFPM2):c.2185A>C (p.Met729Leu) | Inborn genetic diseases [RCV005306479]|not provided [RCV005426459] | likely benign|uncertain significance | 8 | 105802267 | 105802267 | Human | 1 | name |
| 598259833 | CV3937776 | single nucleotide variant | NM_012082.4(ZFPM2):c.1215A>T (p.Glu405Asp) | Inborn genetic diseases [RCV005300304] | uncertain significance | 8 | 105801297 | 105801297 | Human | 1 | name |
| 598159072 | CV3937777 | single nucleotide variant | NM_012082.4(ZFPM2):c.1403C>T (p.Thr468Ile) | Inborn genetic diseases [RCV005306480] | uncertain significance | 8 | 105801485 | 105801485 | Human | 1 | name |
| 12891369 | CV396119 | single nucleotide variant | NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) | 46,XY sex reversal 9 [RCV000476456]|not provided [RCV001573677]|not specified [RCV001702786] | benign|likely benign | 8 | 105802369 | 105802369 | Human | 1 | name , alternate_id |
| 616933681 | CV4011640 | single nucleotide variant | NM_012082.4(ZFPM2):c.2374C>T (p.Pro792Ser) | not specified [RCV005408189] | likely benign | 8 | 105802456 | 105802456 | Human | | name |
| 617153642 | CV4016716 | single nucleotide variant | NM_012082.4(ZFPM2):c.2948C>G (p.Pro983Arg) | not provided [RCV005415813] | uncertain significance | 8 | 105803030 | 105803030 | Human | | name |
| 13485923 | CV444195 | single nucleotide variant | NM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr) | not provided [RCV000522745] | uncertain significance | 8 | 105801602 | 105801602 | Human | | name |
| 13475889 | CV444196 | single nucleotide variant | NM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile) | 46,XY sex reversal 9 [RCV005091236]|not provided [RCV000520007] | likely benign|uncertain significance | 8 | 105801714 | 105801714 | Human | 1 | name , alternate_id |
| 13490297 | CV457742 | single nucleotide variant | NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) | 46,XY sex reversal 9 [RCV000533424] | uncertain significance | 8 | 105802228 | 105802228 | Human | 1 | name , alternate_id |
| 8570481 | CV48117 | single nucleotide variant | NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) | 46,XY sex reversal 3 [RCV001007702]|46,XY sex reversal 9 [RCV000144723]|Diaphragmatic hernia 3 [RCV005394189]|Tetralogy of Fallot [RCV000032716]|ZFPM2-related disorder [RCV003974865]|not provided [RCV000514546]|not specified [RCV000455350] | pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 8 | 105801714 | 105801714 | Human | 5 | name , trait , alternate_id |
| 8604268 | CV48118 | single nucleotide variant | NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) | Double outlet right ventricle [RCV000032717] | pathogenic | 8 | 105802291 | 105802291 | Human | 2 | name |
| 13517139 | CV492143 | single nucleotide variant | NM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu) | not provided [RCV000596322] | uncertain significance | 8 | 105801448 | 105801448 | Human | | name |
| 13520489 | CV495594 | duplication | NM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter) | not provided [RCV000598673] | likely pathogenic | 8 | 105801481 | 105801482 | Human | | name |
| 13626750 | CV523206 | single nucleotide variant | NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) | 46,XY sex reversal 9 [RCV000655313]|not provided [RCV003432715]|not specified [RCV001816653] | benign|likely benign | 8 | 105801358 | 105801358 | Human | 1 | name , alternate_id |
| 13626748 | CV523568 | single nucleotide variant | NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) | 46,XY sex reversal 9 [RCV000655311]|Inborn genetic diseases [RCV004686600] | likely benign|uncertain significance | 8 | 105801309 | 105801309 | Human | 2 | name , alternate_id |
| 13626744 | CV523569 | single nucleotide variant | NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) | 46,XY sex reversal 9 [RCV000655307]|Inborn genetic diseases [RCV004965649]|not provided [RCV001354602] | likely benign|uncertain significance | 8 | 105801953 | 105801953 | Human | 2 | name , alternate_id |
| 13626752 | CV523580 | single nucleotide variant | NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) | 46,XY sex reversal 9 [RCV000655315]|ZFPM2-related disorder [RCV003907920]|not specified [RCV001816654] | benign|likely benign | 8 | 105802583 | 105802583 | Human | 1 | name , trait , alternate_id |
| 13796066 | CV551706 | single nucleotide variant | NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) | 46,XY sex reversal 9 [RCV000705620]|Tetralogy of Fallot [RCV000678773] | uncertain significance | 8 | 105801400 | 105801400 | Human | 3 | name , alternate_id |
| 13808978 | CV561886 | single nucleotide variant | NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) | 46,XY sex reversal 9 [RCV000701895] | uncertain significance | 8 | 105802466 | 105802466 | Human | 1 | name , alternate_id |
| 13808747 | CV567325 | single nucleotide variant | NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) | 46,XY sex reversal 9 [RCV000701785] | uncertain significance | 8 | 105802733 | 105802733 | Human | 1 | name , alternate_id |
| 14696234 | CV621897 | single nucleotide variant | NM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln) | 46,XY sex reversal 9 [RCV005092334]|Diaphragmatic hernia 3 [RCV000782369] | uncertain significance | 8 | 105801250 | 105801250 | Human | 2 | name , alternate_id |
| 14730220 | CV636533 | single nucleotide variant | NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) | 46,XY sex reversal 9 [RCV000817308] | uncertain significance | 8 | 105801292 | 105801292 | Human | 1 | name , alternate_id |
| 14724280 | CV636534 | single nucleotide variant | NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) | 46,XY sex reversal 9 [RCV000798330] | uncertain significance | 8 | 105801356 | 105801356 | Human | 1 | name , alternate_id |
| 14731042 | CV636535 | single nucleotide variant | NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) | 46,XY sex reversal 9 [RCV000817654] | uncertain significance | 8 | 105801518 | 105801518 | Human | 1 | name , alternate_id |
| 14724007 | CV636536 | single nucleotide variant | NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) | 46,XY sex reversal 9 [RCV000798220]|Inborn genetic diseases [RCV002537082]|not provided [RCV003141786] | uncertain significance | 8 | 105801971 | 105801971 | Human | 2 | name , alternate_id |
| 14736705 | CV636537 | single nucleotide variant | NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) | 46,XY sex reversal 9 [RCV000803722] | uncertain significance | 8 | 105802288 | 105802288 | Human | 1 | name , alternate_id |
| 14733027 | CV636538 | single nucleotide variant | NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) | 46,XY sex reversal 9 [RCV000802116] | uncertain significance | 8 | 105802382 | 105802382 | Human | 1 | name , alternate_id |
| 14704997 | CV636539 | single nucleotide variant | NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) | 46,XY sex reversal 9 [RCV000791543]|Inborn genetic diseases [RCV002536931] | uncertain significance | 8 | 105803051 | 105803051 | Human | 2 | name , alternate_id |
| 15121541 | CV683963 | single nucleotide variant | NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) | 46,XY sex reversal 9 [RCV002538904]|not specified [RCV001816934] | benign|likely benign | 8 | 105801097 | 105801097 | Human | 1 | name , alternate_id |
| 15157533 | CV687163 | single nucleotide variant | NM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys) | Inborn genetic diseases [RCV004027727]|not provided [RCV000868463] | likely benign|uncertain significance | 8 | 105802810 | 105802810 | Human | 1 | name |
| 25322646 | CV794210 | single nucleotide variant | NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) | 46,XY sex reversal 3 [RCV001007701]|46,XY sex reversal 9 [RCV002067598] | benign | 8 | 105801085 | 105801085 | Human | 2 | name , alternate_id |
| 25322642 | CV794211 | single nucleotide variant | NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) | 46,XY sex reversal 3 [RCV001007698] | benign | 8 | 105801337 | 105801337 | Human | 1 | name |
| 25322641 | CV794212 | single nucleotide variant | NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) | 46,XY sex reversal 3 [RCV001007697]|46,XY sex reversal 9 [RCV001492996]|not provided [RCV001531088] | benign|likely benign | 8 | 105801694 | 105801694 | Human | 2 | name , alternate_id |
| 25322647 | CV794213 | single nucleotide variant | NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) | 46,XY sex reversal 3 [RCV001007703] | benign | 8 | 105801852 | 105801852 | Human | 1 | name |
| 26900320 | CV834033 | single nucleotide variant | NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) | 46,XY sex reversal 9 [RCV001071239] | uncertain significance | 8 | 105803012 | 105803012 | Human | 1 | name , alternate_id |
| 28885193 | CV859641 | single nucleotide variant | NM_012082.4(ZFPM2):c.1303G>C (p.Asp435His) | not provided [RCV001091701] | uncertain significance | 8 | 105801385 | 105801385 | Human | | name |
| 8632769 | CV87984 | single nucleotide variant | NM_012082.3(ZFPM2):c.2168C>T (p.Ser723Phe) | Malignant melanoma [RCV000068076] | not provided | 8 | 105802250 | 105802250 | Human | | name |
| 38461856 | CV919130 | duplication | NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs) | Tetralogy of Fallot [RCV001197971] | uncertain significance | 8 | 105803350 | 105803351 | Human | 2 | name |
| 38475965 | CV924979 | single nucleotide variant | NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) | 46,XY sex reversal 9 [RCV001215425]|Inborn genetic diseases [RCV003163652] | uncertain significance | 8 | 105803017 | 105803017 | Human | 2 | name , alternate_id |
| 38490256 | CV945821 | single nucleotide variant | NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) | 46,XY sex reversal 9 [RCV001238753]|Inborn genetic diseases [RCV004963271] | uncertain significance | 8 | 105802201 | 105802201 | Human | 2 | name , alternate_id |
| 38495543 | CV945822 | single nucleotide variant | NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) | 46,XY sex reversal 9 [RCV001225784] | uncertain significance | 8 | 105802732 | 105802732 | Human | 1 | name , alternate_id |
| 38498652 | CV955273 | single nucleotide variant | NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) | 46,XY sex reversal 9 [RCV001243951]|Inborn genetic diseases [RCV002568572] | uncertain significance | 8 | 105803065 | 105803065 | Human | 2 | name , alternate_id |
| 126770787 | CV1028270 | single nucleotide variant | NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) | 46,XY sex reversal 9 [RCV001344672] | uncertain significance | 8 | 105803243 | 105803243 | Human | 1 | name , alternate_id |
| 127270418 | CV1074984 | single nucleotide variant | NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) | 46,XY sex reversal 9 [RCV001404984]|Inborn genetic diseases [RCV002553414] | likely benign | 8 | 105803159 | 105803159 | Human | 2 | name , alternate_id |
| 127265412 | CV1096628 | single nucleotide variant | NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) | 46,XY sex reversal 9 [RCV001429059]|not provided [RCV004707594] | likely benign | 8 | 105803131 | 105803131 | Human | 1 | name , alternate_id |
| 127288711 | CV1118150 | single nucleotide variant | NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) | 46,XY sex reversal 9 [RCV001450583] | likely benign | 8 | 105803350 | 105803350 | Human | 1 | name , alternate_id |
| 150550418 | CV1308119 | single nucleotide variant | NM_012082.4(ZFPM2):c.3358T>C (p.Tyr1120His) | not provided [RCV001753109] | uncertain significance | 8 | 105803440 | 105803440 | Human | | name |
| 156056188 | CV2003413 | single nucleotide variant | NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu) | 46,XY sex reversal 9 [RCV002659529] | uncertain significance | 8 | 105803172 | 105803172 | Human | 1 | name , alternate_id |
| 156223040 | CV2005812 | single nucleotide variant | NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu) | 46,XY sex reversal 9 [RCV002667298] | uncertain significance | 8 | 105803206 | 105803206 | Human | 1 | name , alternate_id |
| 156392685 | CV2006020 | single nucleotide variant | NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly) | 46,XY sex reversal 9 [RCV002680924] | likely benign | 8 | 105803096 | 105803096 | Human | 1 | name , alternate_id |
| 156037995 | CV2124686 | single nucleotide variant | NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile) | 46,XY sex reversal 9 [RCV002923797]|not provided [RCV003111609] | uncertain significance | 8 | 105803408 | 105803408 | Human | 1 | name , alternate_id |
| 156170461 | CV2317143 | single nucleotide variant | NM_012082.4(ZFPM2):c.3087A>C (p.Lys1029Asn) | Inborn genetic diseases [RCV002929810] | uncertain significance | 8 | 105803169 | 105803169 | Human | 1 | name |
| 156300273 | CV2322416 | single nucleotide variant | NM_012082.4(ZFPM2):c.3373G>A (p.Asp1125Asn) | Inborn genetic diseases [RCV002936305] | uncertain significance | 8 | 105803455 | 105803455 | Human | 1 | name |
| 401931420 | CV2800773 | single nucleotide variant | NM_012082.4(ZFPM2):c.3175C>T (p.Gln1059Ter) | ZFPM2-related disorder [RCV003391296] | uncertain significance | 8 | 105803257 | 105803257 | Human | | name , trait , alternate_id |
| 401913150 | CV2803246 | single nucleotide variant | NM_012082.4(ZFPM2):c.3377T>A (p.Ile1126Asn) | ZFPM2-related disorder [RCV003427786] | uncertain significance | 8 | 105803459 | 105803459 | Human | | name , trait , alternate_id |
| 401924104 | CV2821229 | single nucleotide variant | NM_012082.4(ZFPM2):c.3208G>A (p.Glu1070Lys) | not provided [RCV003435588] | likely benign | 8 | 105803290 | 105803290 | Human | | name |
| 405163823 | CV2873004 | single nucleotide variant | NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu) | 46,XY sex reversal 9 [RCV003586959] | uncertain significance | 8 | 105803300 | 105803300 | Human | 1 | name , alternate_id |
| 405162795 | CV2875873 | single nucleotide variant | NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val) | 46,XY sex reversal 9 [RCV003586876] | uncertain significance | 8 | 105803500 | 105803500 | Human | 1 | name , alternate_id |
| 405252908 | CV3047303 | single nucleotide variant | NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln) | 46,XY sex reversal 9 [RCV003748685] | uncertain significance | 8 | 105803119 | 105803119 | Human | 1 | name , alternate_id |
| 405101826 | CV3069048 | single nucleotide variant | NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu) | 46,XY sex reversal 9 [RCV003748982] | uncertain significance | 8 | 105803380 | 105803380 | Human | 1 | name , alternate_id |
| 405208243 | CV3145671 | single nucleotide variant | NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys) | 46,XY sex reversal 9 [RCV003845401] | uncertain significance | 8 | 105803344 | 105803344 | Human | 1 | name , alternate_id |
| 405669563 | CV3360396 | single nucleotide variant | NM_012082.4(ZFPM2):c.3229T>G (p.Ser1077Ala) | Inborn genetic diseases [RCV004486203] | uncertain significance | 8 | 105803311 | 105803311 | Human | 1 | name |
| 407427100 | CV3410433 | single nucleotide variant | NM_012082.4(ZFPM2):c.3066T>A (p.Asn1022Lys) | not specified [RCV004586080] | uncertain significance | 8 | 105803148 | 105803148 | Human | | name |
| 407508915 | CV3496416 | single nucleotide variant | NM_012082.4(ZFPM2):c.3137G>A (p.Gly1046Asp) | not provided [RCV004698257] | uncertain significance | 8 | 105803219 | 105803219 | Human | | name |
| 408386321 | CV3522461 | single nucleotide variant | NM_012082.4(ZFPM2):c.3416A>G (p.Lys1139Arg) | not provided [RCV004767821] | uncertain significance | 8 | 105803498 | 105803498 | Human | | name |
| 596942692 | CV3544061 | single nucleotide variant | NM_012082.4(ZFPM2):c.3031G>A (p.Glu1011Lys) | not specified [RCV004800051] | uncertain significance | 8 | 105803113 | 105803113 | Human | | name |
| 597625814 | CV3624765 | single nucleotide variant | NM_012082.4(ZFPM2):c.3193C>A (p.Gln1065Lys) | Inborn genetic diseases [RCV004964786] | uncertain significance | 8 | 105803275 | 105803275 | Human | 1 | name |
| 597913003 | CV3778645 | single nucleotide variant | NM_012082.4(ZFPM2):c.3428C>T (p.Ser1143Leu) | 46,XY sex reversal 9 [RCV005128990] | uncertain significance | 8 | 105803510 | 105803510 | Human | 1 | name , alternate_id |
| 598238262 | CV3893348 | single nucleotide variant | NM_012082.4(ZFPM2):c.3237C>G (p.Ile1079Met) | not provided [RCV005256081] | uncertain significance | 8 | 105803319 | 105803319 | Human | | name |
| 598159338 | CV3897069 | single nucleotide variant | NM_012082.4(ZFPM2):c.3116G>A (p.Arg1039Gln) | not provided [RCV005368043] | uncertain significance | 8 | 105803198 | 105803198 | Human | | name |
| 598259829 | CV3937775 | single nucleotide variant | NM_012082.4(ZFPM2):c.3442G>C (p.Glu1148Gln) | Inborn genetic diseases [RCV005300303] | uncertain significance | 8 | 105803524 | 105803524 | Human | 1 | name |
| 12884988 | CV395860 | single nucleotide variant | NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) | 46,XY sex reversal 9 [RCV000464502]|not provided [RCV004712861]|not specified [RCV003230509] | benign|likely benign | 8 | 105803246 | 105803246 | Human | 1 | name , alternate_id |
| 12887740 | CV396122 | single nucleotide variant | NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) | 46,XY sex reversal 9 [RCV000469606] | uncertain significance | 8 | 105803376 | 105803376 | Human | 1 | name , alternate_id |
| 13493982 | CV457744 | single nucleotide variant | NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) | 46,XY sex reversal 9 [RCV000558571] | uncertain significance | 8 | 105803416 | 105803416 | Human | 1 | name , alternate_id |
| 13626745 | CV522965 | single nucleotide variant | NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) | 46,XY sex reversal 9 [RCV000655308]|Diaphragmatic hernia 3 [RCV005392248] | uncertain significance | 8 | 105803168 | 105803168 | Human | 3 | name , alternate_id |
| 40815396 | CV970870 | single nucleotide variant | NM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn) | Diaphragmatic hernia 3 [RCV001262754] | uncertain significance | 8 | 105803417 | 105803417 | Human | 1 | name |
| 40903322 | CV975859 | duplication | NM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs) | Diaphragmatic hernia 3 [RCV001269307]|not provided [RCV004762043] | pathogenic|likely pathogenic | 8 | 105798739 | 105798740 | Human | 1 | name |
| 150533178 | CV1311059 | microsatellite | NM_012082.4(ZFPM2):c.1672AAT[1] (p.Asn559del) | not provided [RCV001776794] | uncertain significance | 8 | 105801754 | 105801756 | Human | | name |
| 405698019 | CV3226928 | deletion | NM_012082.4(ZFPM2):c.1480_1493del (p.Val494fs) | not provided [RCV003993322] | likely pathogenic | 8 | 105801559 | 105801572 | Human | | name |
| 597631243 | CV3552655 | duplication | NM_012082.4(ZFPM2):c.2564_2565dup (p.Cys856fs) | not provided [RCV004823355] | likely pathogenic | 8 | 105802644 | 105802645 | Human | | name |
| 597932105 | CV3780460 | deletion | NM_012082.4(ZFPM2):c.2067_2071del (p.Glu690fs) | 46,XY sex reversal 9 [RCV005116780] | uncertain significance | 8 | 105802148 | 105802152 | Human | 1 | name , alternate_id |
| 40903323 | CV975860 | duplication | NM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs) | Diaphragmatic hernia 3 [RCV001269308] | pathogenic | 8 | 105801475 | 105801476 | Human | 1 | name |
| 151354252 | CV1329385 | deletion | NM_012082.4(ZFPM2):c.1975_1977del (p.Asn659del) | not specified [RCV001817748] | uncertain significance | 8 | 105802057 | 105802059 | Human | | name |
| 25322651 | CV794214 | deletion | NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) | 46,XY sex reversal 3 [RCV001007704]|46,XY sex reversal 9 [RCV003586260] | benign|uncertain significance | 8 | 105801898 | 105801900 | Human | 2 | name , alternate_id |
| 25318440 | CV805556 | insertion | NM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs) | not provided [RCV001008616] | likely pathogenic | 8 | 105802464 | 105802465 | Human | | name |
| 405253202 | CV3066720 | duplication | NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe) | 46,XY sex reversal 9 [RCV003748835] | uncertain significance | 8 | 105798880 | 105798881 | Human | 1 | name , alternate_id |
| 156439715 | CV1939762 | duplication | NC_000008.10:g.(?_106331170)_(106674812_?)dup | 46,XY sex reversal 9 [RCV003109681] | uncertain significance | | | | Human | 1 | alternate_id |