| 11600044 | CV320745 | single nucleotide variant | NM_004132.5(HABP2):c.-3A>G | Factor VII Marburg I Variant Thrombophilia [RCV000270195]|not provided [RCV001753759] | likely benign|uncertain significance | 10 | 113553119 | 113553119 | Human | 1 | name |
| 11611818 | CV309516 | single nucleotide variant | NM_004132.4(HABP2):c.-71T>C | Factor VII Marburg I Variant Thrombophilia [RCV000399909]|not provided [RCV003320628] | likely benign | 10 | 113553051 | 113553051 | Human | 1 | name |
| 11604047 | CV320281 | single nucleotide variant | NM_004132.4(HABP2):c.-70T>C | Factor VII Marburg I Variant Thrombophilia [RCV000305895]|not provided [RCV001653467] | benign|likely benign | 10 | 113553052 | 113553052 | Human | 1 | name |
| 11608837 | CV320283 | single nucleotide variant | NM_004132.5(HABP2):c.-65C>G | Factor VII Marburg I Variant Thrombophilia [RCV000360136] | uncertain significance | 10 | 113553057 | 113553057 | Human | 1 | name |
| 28906768 | CV865445 | single nucleotide variant | NM_004132.5(HABP2):c.-58G>C | Factor VII Marburg I Variant Thrombophilia [RCV001106838]|not provided [RCV003128767] | likely benign | 10 | 113553064 | 113553064 | Human | 1 | name |
| 28907115 | CV865470 | single nucleotide variant | NM_004132.5(HABP2):c.*29C>T | Factor VII Marburg I Variant Thrombophilia [RCV001107040] | uncertain significance | 10 | 113588398 | 113588398 | Human | 1 | name |
| 28907117 | CV865471 | single nucleotide variant | NM_004132.5(HABP2):c.*51G>A | Factor VII Marburg I Variant Thrombophilia [RCV001107041] | uncertain significance | 10 | 113588420 | 113588420 | Human | 1 | name |
| 11657401 | CV309517 | deletion | NM_004132.4(HABP2):c.-70delT | Factor VII Marburg I Variant Thrombophilia [RCV000340903] | uncertain significance | 10 | 113553048 | 113553048 | Human | 1 | name |
| 11607957 | CV309544 | single nucleotide variant | NM_004132.5(HABP2):c.*527C>T | Factor VII Marburg I Variant Thrombophilia [RCV000349161] | uncertain significance | 10 | 113588896 | 113588896 | Human | 1 | name |
| 11651767 | CV309548 | single nucleotide variant | NM_004132.5(HABP2):c.*765C>T | Factor VII Marburg I Variant Thrombophilia [RCV000300970] | uncertain significance | 10 | 113589134 | 113589134 | Human | 1 | name |
| 11645732 | CV309555 | single nucleotide variant | NM_004132.5(HABP2):c.*919T>G | Factor VII Marburg I Variant Thrombophilia [RCV000267152] | uncertain significance | 10 | 113589288 | 113589288 | Human | 1 | name |
| 11602173 | CV314345 | single nucleotide variant | NM_004132.5(HABP2):c.*258C>T | Factor VII Marburg I Variant Thrombophilia [RCV000288482]|not provided [RCV004692891] | uncertain significance | 10 | 113588627 | 113588627 | Human | 1 | name |
| 11605695 | CV320326 | single nucleotide variant | NM_004132.5(HABP2):c.*235C>T | Factor VII Marburg I Variant Thrombophilia [RCV000322635] | uncertain significance | 10 | 113588604 | 113588604 | Human | 1 | name |
| 11611390 | CV320341 | single nucleotide variant | NM_004132.5(HABP2):c.*418C>T | Factor VII Marburg I Variant Thrombophilia [RCV000394120] | uncertain significance | 10 | 113588787 | 113588787 | Human | 1 | name |
| 11663077 | CV320354 | single nucleotide variant | NM_004132.5(HABP2):c.*682T>G | Factor VII Marburg I Variant Thrombophilia [RCV000392252] | uncertain significance | 10 | 113589051 | 113589051 | Human | 1 | name |
| 11599457 | CV320359 | single nucleotide variant | NM_004132.5(HABP2):c.*823C>T | Factor VII Marburg I Variant Thrombophilia [RCV000265934] | uncertain significance | 10 | 113589192 | 113589192 | Human | 1 | name |
| 11608936 | CV320360 | single nucleotide variant | NM_004132.5(HABP2):c.*869T>G | Factor VII Marburg I Variant Thrombophilia [RCV000361792] | likely benign|uncertain significance | 10 | 113589238 | 113589238 | Human | 1 | name |
| 11610548 | CV320770 | single nucleotide variant | NM_004132.5(HABP2):c.*236A>C | Factor VII Marburg I Variant Thrombophilia [RCV000382956] | uncertain significance | 10 | 113588605 | 113588605 | Human | 1 | name |
| 11607861 | CV320782 | single nucleotide variant | NM_004132.5(HABP2):c.*365A>G | Factor VII Marburg I Variant Thrombophilia [RCV000348220] | likely benign|uncertain significance | 10 | 113588734 | 113588734 | Human | 1 | name |
| 11650630 | CV320793 | single nucleotide variant | NM_004132.5(HABP2):c.*467C>T | Factor VII Marburg I Variant Thrombophilia [RCV000294193] | uncertain significance | 10 | 113588836 | 113588836 | Human | 1 | name |
| 11608393 | CV320794 | single nucleotide variant | NM_004132.5(HABP2):c.*644T>G | Factor VII Marburg I Variant Thrombophilia [RCV000354734] | uncertain significance | 10 | 113589013 | 113589013 | Human | 1 | name |
| 11654855 | CV320808 | single nucleotide variant | NM_004132.5(HABP2):c.*859A>G | Factor VII Marburg I Variant Thrombophilia [RCV000320992] | uncertain significance | 10 | 113589228 | 113589228 | Human | 1 | name |
| 28907119 | CV865472 | single nucleotide variant | NM_004132.5(HABP2):c.*155T>A | Factor VII Marburg I Variant Thrombophilia [RCV001107042] | uncertain significance | 10 | 113588524 | 113588524 | Human | 1 | name |
| 28907122 | CV865473 | single nucleotide variant | NM_004132.5(HABP2):c.*349C>T | Factor VII Marburg I Variant Thrombophilia [RCV001107043] | uncertain significance | 10 | 113588718 | 113588718 | Human | 1 | name |
| 28907124 | CV865474 | single nucleotide variant | NM_004132.5(HABP2):c.*360A>C | Factor VII Marburg I Variant Thrombophilia [RCV001107044] | uncertain significance | 10 | 113588729 | 113588729 | Human | 1 | name |
| 28908213 | CV865475 | single nucleotide variant | NM_004132.5(HABP2):c.*565A>G | Factor VII Marburg I Variant Thrombophilia [RCV001107701] | likely benign | 10 | 113588934 | 113588934 | Human | 1 | name |
| 28901003 | CV865476 | single nucleotide variant | NM_004132.5(HABP2):c.*802G>T | Factor VII Marburg I Variant Thrombophilia [RCV001104069] | uncertain significance | 10 | 113589171 | 113589171 | Human | 1 | name |
| 28901006 | CV865477 | single nucleotide variant | NM_004132.5(HABP2):c.*813C>T | Factor VII Marburg I Variant Thrombophilia [RCV001104070] | uncertain significance | 10 | 113589182 | 113589182 | Human | 1 | name |
| 28901009 | CV865478 | single nucleotide variant | NM_004132.5(HABP2):c.*822C>T | Factor VII Marburg I Variant Thrombophilia [RCV001104071] | uncertain significance | 10 | 113589191 | 113589191 | Human | 1 | name |
| 150455448 | CV1277795 | single nucleotide variant | NM_004132.5(HABP2):c.70-55A>G | not provided [RCV001708972] | benign | 10 | 113567434 | 113567434 | Human | | name |
| 155268717 | CV1705544 | single nucleotide variant | NM_004132.5(HABP2):c.70-43G>C | not provided [RCV002286150] | likely benign | 10 | 113567446 | 113567446 | Human | | name |
| 11609910 | CV309527 | single nucleotide variant | NM_004132.5(HABP2):c.568+9C>T | Factor VII Marburg I Variant Thrombophilia [RCV000374086]|not provided [RCV000947284] | benign|likely benign | 10 | 113578154 | 113578154 | Human | 1 | name |
| 11655331 | CV309572 | single nucleotide variant | NM_004132.5(HABP2):c.*1039T>C | Factor VII Marburg I Variant Thrombophilia [RCV000325192] | uncertain significance | 10 | 113589408 | 113589408 | Human | 1 | name |
| 11649921 | CV314354 | single nucleotide variant | NM_004132.5(HABP2):c.*1052G>A | Factor VII Marburg I Variant Thrombophilia [RCV000289965] | uncertain significance | 10 | 113589421 | 113589421 | Human | 1 | name |
| 11607013 | CV320310 | single nucleotide variant | NM_004132.5(HABP2):c.568+3A>G | Factor VII Marburg I Variant Thrombophilia [RCV000338306]|HABP2-related disorder [RCV005355626] | uncertain significance | 10 | 113578148 | 113578148 | Human | 2 | name , trait , alternate_id |
| 11662248 | CV320366 | single nucleotide variant | NM_004132.5(HABP2):c.*1051C>T | Factor VII Marburg I Variant Thrombophilia [RCV000384471] | uncertain significance | 10 | 113589420 | 113589420 | Human | 1 | name |
| 11603013 | CV320367 | single nucleotide variant | NM_004132.5(HABP2):c.*1159C>T | Factor VII Marburg I Variant Thrombophilia [RCV000295780] | uncertain significance | 10 | 113589528 | 113589528 | Human | 1 | name |
| 11656088 | CV320828 | single nucleotide variant | NM_004132.5(HABP2):c.*1088T>C | Factor VII Marburg I Variant Thrombophilia [RCV000330913] | uncertain significance | 10 | 113589457 | 113589457 | Human | 1 | name |
| 11610707 | CV320830 | single nucleotide variant | NM_004132.5(HABP2):c.*1115C>A | Factor VII Marburg I Variant Thrombophilia [RCV000385416]|not provided [RCV004706755] | likely benign | 10 | 113589484 | 113589484 | Human | 1 | name |
| 11608080 | CV320831 | single nucleotide variant | NM_004132.5(HABP2):c.*1160G>A | Factor VII Marburg I Variant Thrombophilia [RCV000350609]|not provided [RCV004718208] | benign|likely benign | 10 | 113589529 | 113589529 | Human | 1 | name |
| 598225907 | CV3895699 | single nucleotide variant | NM_004132.5(HABP2):c.838+2T>C | Thyroid cancer, nonmedullary, 5 [RCV005362014] | uncertain significance | 10 | 113580694 | 113580694 | Human | 1 | name |
| 28901753 | CV865479 | single nucleotide variant | NM_004132.5(HABP2):c.*1124C>A | Factor VII Marburg I Variant Thrombophilia [RCV001104378] | uncertain significance | 10 | 113589493 | 113589493 | Human | 1 | name |
| 28907277 | CV865480 | single nucleotide variant | NM_004132.5(HABP2):c.*1175C>T | Factor VII Marburg I Variant Thrombophilia [RCV001107125] | uncertain significance | 10 | 113589544 | 113589544 | Human | 1 | name |
| 28906944 | CV868447 | single nucleotide variant | NM_004132.5(HABP2):c.740+7T>A | Factor VII Marburg I Variant Thrombophilia [RCV001106938]|HABP2-related disorder [RCV003906202] | likely benign | 10 | 113578805 | 113578805 | Human | 2 | name , trait , alternate_id |
| 150333906 | CV1169371 | single nucleotide variant | NM_004132.5(HABP2):c.740+58A>G | not provided [RCV001537528] | benign | 10 | 113578856 | 113578856 | Human | | name |
| 150514188 | CV1210903 | single nucleotide variant | NM_004132.5(HABP2):c.70-309C>A | not provided [RCV001598946] | benign | 10 | 113567180 | 113567180 | Human | | name |
| 150516216 | CV1216481 | single nucleotide variant | NM_004132.5(HABP2):c.838+41G>A | not provided [RCV001608672] | benign | 10 | 113580733 | 113580733 | Human | | name |
| 150504006 | CV1240668 | single nucleotide variant | NM_004132.5(HABP2):c.839-90G>C | not provided [RCV001657511] | benign | 10 | 113581786 | 113581786 | Human | | name |
| 150468788 | CV1243051 | single nucleotide variant | NM_004132.5(HABP2):c.70-208A>G | not provided [RCV001650569] | benign | 10 | 113567281 | 113567281 | Human | | name |
| 150437757 | CV1249924 | single nucleotide variant | NM_004132.5(HABP2):c.331+80A>G | not provided [RCV001665838] | benign | 10 | 113576084 | 113576084 | Human | | name |
| 150482622 | CV1261649 | single nucleotide variant | NM_004132.5(HABP2):c.70-298C>G | not provided [RCV001686252] | benign | 10 | 113567191 | 113567191 | Human | | name |
| 150465342 | CV1268593 | single nucleotide variant | NM_004132.5(HABP2):c.70-177G>A | not provided [RCV001694289] | benign | 10 | 113567312 | 113567312 | Human | | name |
| 150471273 | CV1270043 | single nucleotide variant | NM_004132.5(HABP2):c.70-164A>G | not provided [RCV001695331] | benign | 10 | 113567325 | 113567325 | Human | | name |
| 150498000 | CV1271436 | single nucleotide variant | NM_004132.5(HABP2):c.70-200C>G | not provided [RCV001689126] | benign | 10 | 113567289 | 113567289 | Human | | name |
| 150498363 | CV1271498 | single nucleotide variant | NM_004132.5(HABP2):c.569-81T>C | not provided [RCV001689188] | benign | 10 | 113578546 | 113578546 | Human | | name |
| 150441779 | CV1287621 | single nucleotide variant | NM_004132.5(HABP2):c.70-303G>A | not provided [RCV001725341] | benign | 10 | 113567186 | 113567186 | Human | | name |
| 150541766 | CV1306540 | single nucleotide variant | NM_004132.5(HABP2):c.741-81C>T | not provided [RCV001768163] | likely benign | 10 | 113580514 | 113580514 | Human | | name |
| 150535050 | CV1306785 | single nucleotide variant | NM_004132.5(HABP2):c.449-84T>C | not provided [RCV001757783] | likely benign | 10 | 113577942 | 113577942 | Human | | name |
| 150542339 | CV1307738 | single nucleotide variant | NM_004132.5(HABP2):c.223+76G>T | not provided [RCV001769513] | likely benign | 10 | 113574481 | 113574481 | Human | | name |
| 150532436 | CV1309192 | single nucleotide variant | NM_004132.5(HABP2):c.838+38G>A | not provided [RCV001752873] | likely benign | 10 | 113580730 | 113580730 | Human | | name |
| 11609546 | CV320314 | single nucleotide variant | NM_004132.5(HABP2):c.1095-6T>C | Factor VII Marburg I Variant Thrombophilia [RCV000369911]|not provided [RCV001753760] | likely benign|uncertain significance | 10 | 113583210 | 113583210 | Human | 1 | name |
| 405270736 | CV3219767 | single nucleotide variant | NM_004132.5(HABP2):c.1094+9C>A | HABP2-related disorder [RCV003971508] | likely benign | 10 | 113582140 | 113582140 | Human | | name , trait , alternate_id |
| 28900535 | CV868445 | single nucleotide variant | NM_004132.5(HABP2):c.332-10T>G | Factor VII Marburg I Variant Thrombophilia [RCV001103877] | uncertain significance | 10 | 113577140 | 113577140 | Human | 1 | name |
| 28900546 | CV868446 | single nucleotide variant | NM_004132.5(HABP2):c.448+14G>A | Factor VII Marburg I Variant Thrombophilia [RCV001103881] | likely benign | 10 | 113577280 | 113577280 | Human | 1 | name |
| 28901502 | CV868449 | single nucleotide variant | NM_004132.5(HABP2):c.1238-2A>G | Factor VII Marburg I Variant Thrombophilia [RCV001104280] | likely benign | 10 | 113584146 | 113584146 | Human | 1 | name |
| 150434839 | CV1215991 | single nucleotide variant | NM_004132.5(HABP2):c.106+205G>A | not provided [RCV001609180] | benign | 10 | 113567730 | 113567730 | Human | | name |
| 150499240 | CV1224556 | single nucleotide variant | NM_004132.5(HABP2):c.331+220T>C | not provided [RCV001620387] | benign | 10 | 113576224 | 113576224 | Human | 1 | name |
| 150499240 | CV1224556 | single nucleotide variant | NM_004132.5(HABP2):c.331+220T>C | not provided [RCV001620387] | benign | 10 | 113576224 | 113576225 | Human | 1 | name |
| 150507094 | CV1226506 | single nucleotide variant | NM_004132.5(HABP2):c.223+142T>C | not provided [RCV001635874] | benign | 10 | 113574547 | 113574547 | Human | | name |
| 150516843 | CV1227282 | single nucleotide variant | NM_004132.5(HABP2):c.449-100A>T | not provided [RCV001639382] | benign | 10 | 113577926 | 113577926 | Human | | name |
| 150430153 | CV1232028 | single nucleotide variant | NM_004132.5(HABP2):c.448+316T>C | not provided [RCV001641290] | benign | 10 | 113577582 | 113577582 | Human | | name |
| 150430257 | CV1232085 | single nucleotide variant | NM_004132.5(HABP2):c.1238-76A>T | not provided [RCV001641347] | benign | 10 | 113584072 | 113584072 | Human | | name |
| 150440886 | CV1233455 | single nucleotide variant | NM_004132.5(HABP2):c.107-297T>A | not provided [RCV001645143] | benign | 10 | 113573992 | 113573992 | Human | | name |
| 150435586 | CV1233897 | single nucleotide variant | NM_004132.5(HABP2):c.106+201T>C | not provided [RCV001644024] | benign | 10 | 113567726 | 113567726 | Human | | name |
| 150483608 | CV1248260 | single nucleotide variant | NM_004132.5(HABP2):c.106+243G>A | not provided [RCV001673475] | benign | 10 | 113567768 | 113567768 | Human | | name |
| 150468627 | CV1259524 | single nucleotide variant | NM_004132.5(HABP2):c.224-233G>T | not provided [RCV001683824] | benign | 10 | 113575664 | 113575664 | Human | | name |
| 150445664 | CV1261236 | single nucleotide variant | NM_004132.5(HABP2):c.106+203A>C | not provided [RCV001679910] | benign | 10 | 113567728 | 113567728 | Human | | name |
| 150458849 | CV1263919 | single nucleotide variant | NM_004132.5(HABP2):c.106+115A>G | not provided [RCV001681833] | benign | 10 | 113567640 | 113567640 | Human | | name |
| 150443196 | CV1264561 | single nucleotide variant | NM_004132.5(HABP2):c.1238-55C>G | not provided [RCV001679545] | benign | 10 | 113584093 | 113584093 | Human | | name |
| 150446143 | CV1271825 | single nucleotide variant | NM_004132.5(HABP2):c.1519-76C>A | not provided [RCV001691239] | benign | 10 | 113588129 | 113588129 | Human | | name |
| 150474631 | CV1272363 | duplication | NM_004132.5(HABP2):c.223+148dup | not provided [RCV001695901] | benign | 10 | 113574545 | 113574546 | Human | | name |
| 150472699 | CV1272532 | single nucleotide variant | NM_004132.5(HABP2):c.740+231G>A | not provided [RCV001695588] | benign | 10 | 113579029 | 113579029 | Human | | name |
| 150496415 | CV1272890 | single nucleotide variant | NM_004132.5(HABP2):c.224-116C>T | not provided [RCV001688813] | benign | 10 | 113575781 | 113575781 | Human | | name |
| 150463587 | CV1273174 | duplication | NM_004132.5(HABP2):c.740+312dup | not provided [RCV001693931] | benign | 10 | 113579094 | 113579095 | Human | | name |
| 150453794 | CV1276898 | single nucleotide variant | NM_004132.5(HABP2):c.106+246C>G | not provided [RCV001708688] | benign | 10 | 113567771 | 113567771 | Human | | name |
| 150455919 | CV1278424 | single nucleotide variant | NM_004132.5(HABP2):c.449-247C>G | not provided [RCV001709039] | benign | 10 | 113577779 | 113577779 | Human | | name |
| 150458390 | CV1278762 | single nucleotide variant | NM_004132.5(HABP2):c.332-151A>C | not provided [RCV001709379] | benign | 10 | 113576999 | 113576999 | Human | | name |
| 150476856 | CV1279340 | single nucleotide variant | NM_004132.5(HABP2):c.838+147C>T | not provided [RCV001714049] | benign | 10 | 113580839 | 113580839 | Human | | name |
| 150471539 | CV1281009 | deletion | NM_004132.5(HABP2):c.740+312del | not provided [RCV001713207] | benign | 10 | 113579095 | 113579095 | Human | | name |
| 8651612 | CV128187 | single nucleotide variant | NM_004132.3(HABP2):c.69+2141T>G | Lung cancer [RCV000108674] | uncertain significance | 10 | 113555331 | 113555331 | Human | | name |
| 150541783 | CV1306549 | single nucleotide variant | NM_004132.5(HABP2):c.838+208G>T | not provided [RCV001768172] | likely benign | 10 | 113580900 | 113580900 | Human | | name |
| 150542890 | CV1306641 | single nucleotide variant | NM_004132.5(HABP2):c.107-273C>T | not provided [RCV001769705] | likely benign | 10 | 113574016 | 113574016 | Human | | name |
| 150535639 | CV1306918 | single nucleotide variant | NM_004132.5(HABP2):c.332-341C>A | not provided [RCV001758972] | likely benign | 10 | 113576809 | 113576809 | Human | | name |
| 150535712 | CV1307018 | single nucleotide variant | NM_004132.5(HABP2):c.449-108G>A | not provided [RCV001759072] | likely benign | 10 | 113577918 | 113577918 | Human | | name |
| 150535714 | CV1307019 | single nucleotide variant | NM_004132.5(HABP2):c.568+202A>T | not provided [RCV001759073] | likely benign | 10 | 113578347 | 113578347 | Human | | name |
| 150542342 | CV1307739 | single nucleotide variant | NM_004132.5(HABP2):c.107-220A>G | not provided [RCV001769514] | likely benign | 10 | 113574069 | 113574069 | Human | | name |
| 150534733 | CV1307928 | single nucleotide variant | NM_004132.5(HABP2):c.223+129A>G | not provided [RCV001757650] | likely benign | 10 | 113574534 | 113574534 | Human | | name |
| 150536041 | CV1309103 | single nucleotide variant | NM_004132.5(HABP2):c.223+214G>A | not provided [RCV001759310] | likely benign | 10 | 113574619 | 113574619 | Human | | name |
| 150536160 | CV1309156 | single nucleotide variant | NM_004132.5(HABP2):c.223+286G>T | not provided [RCV001759363] | likely benign | 10 | 113574691 | 113574691 | Human | | name |
| 152980615 | CV1676026 | single nucleotide variant | NM_004132.5(HABP2):c.331+236A>G | not provided [RCV002245095] | likely benign | 10 | 113576240 | 113576240 | Human | | name |
| 28900795 | CV868448 | single nucleotide variant | NM_004132.5(HABP2):c.1238-15T>G | Factor VII Marburg I Variant Thrombophilia [RCV001103990] | uncertain significance | 10 | 113584133 | 113584133 | Human | 1 | name |
| 150331279 | CV1172049 | single nucleotide variant | NM_004132.5(HABP2):c.1238-207G>A | not provided [RCV001538565] | benign | 10 | 113583941 | 113583941 | Human | | name |
| 150443641 | CV1249308 | single nucleotide variant | NM_004132.5(HABP2):c.1238-104C>T | not provided [RCV001666740] | benign | 10 | 113584044 | 113584044 | Human | | name |
| 150473371 | CV1252396 | single nucleotide variant | NM_004132.5(HABP2):c.1373-261C>T | not provided [RCV001671598] | benign | 10 | 113585532 | 113585532 | Human | | name |
| 150464901 | CV1252791 | single nucleotide variant | NM_004132.5(HABP2):c.1238-321C>T | not provided [RCV001670115] | benign | 10 | 113583827 | 113583827 | Human | | name |
| 150490858 | CV1267682 | single nucleotide variant | NM_004132.5(HABP2):c.1518+153T>C | not provided [RCV001687706] | benign | 10 | 113586091 | 113586091 | Human | | name |
| 150468457 | CV1267937 | single nucleotide variant | NM_004132.5(HABP2):c.1519-316C>A | not provided [RCV001694800] | benign | 10 | 113587889 | 113587889 | Human | | name |
| 150435878 | CV1270874 | single nucleotide variant | NM_004132.5(HABP2):c.1372+314A>G | not provided [RCV001689424] | benign | 10 | 113584596 | 113584596 | Human | | name |
| 150492389 | CV1281068 | single nucleotide variant | NM_004132.5(HABP2):c.1237+170C>T | not provided [RCV001716803] | benign | 10 | 113583528 | 113583528 | Human | | name |
| 150532721 | CV1308082 | single nucleotide variant | NM_004132.5(HABP2):c.1095-183C>T | not provided [RCV001753072] | likely benign | 10 | 113583033 | 113583033 | Human | | name |
| 151730161 | CV1517755 | single nucleotide variant | NM_004132.5(HABP2):c.1518+104A>T | not provided [RCV002052370] | likely benign | 10 | 113586042 | 113586042 | Human | | name |
| 153001046 | CV1684257 | single nucleotide variant | NM_004132.5(HABP2):c.1373-199T>C | not provided [RCV002255767] | likely benign | 10 | 113585594 | 113585594 | Human | | name |
| 150453813 | CV1260570 | single nucleotide variant | NM_001177660.3(HABP2):c.-10+1886G>A | not provided [RCV001681062] | benign | 10 | 113552847 | 113552847 | Human | | name |
| 11652728 | CV320285 | single nucleotide variant | NM_004132.5(HABP2):c.63C>T (p.Ala21=) | Factor VII Marburg I Variant Thrombophilia [RCV000306617] | uncertain significance | 10 | 113553184 | 113553184 | Human | 1 | name |
| 156268016 | CV2305717 | single nucleotide variant | NM_004132.5(HABP2):c.15G>A (p.Met5Ile) | not specified [RCV004167535] | uncertain significance | 10 | 113553136 | 113553136 | Human | | name |
| 11606367 | CV314323 | single nucleotide variant | NM_004132.5(HABP2):c.183C>T (p.His61=) | Factor VII Marburg I Variant Thrombophilia [RCV000330830]|HABP2-related disorder [RCV003977858]|not provided [RCV001597046] | benign|likely benign | 10 | 113574365 | 113574365 | Human | 2 | name , trait , alternate_id |
| 11600830 | CV314324 | single nucleotide variant | NM_004132.5(HABP2):c.267C>T (p.Leu89=) | Factor VII Marburg I Variant Thrombophilia [RCV000276918] | uncertain significance | 10 | 113575940 | 113575940 | Human | 1 | name |
| 11610722 | CV320754 | single nucleotide variant | NM_004132.5(HABP2):c.207C>T (p.Tyr69=) | Factor VII Marburg I Variant Thrombophilia [RCV000385322]|not provided [RCV004692890]|not specified [RCV003479097] | likely benign|uncertain significance | 10 | 113574389 | 113574389 | Human | 1 | name |
| 15195458 | CV723772 | single nucleotide variant | NM_004132.5(HABP2):c.177T>A (p.Leu59=) | Factor VII Marburg I Variant Thrombophilia [RCV001107502]|not provided [RCV000889509] | benign|uncertain significance | 10 | 113574359 | 113574359 | Human | 1 | name |
| 15160031 | CV723773 | single nucleotide variant | NM_004132.5(HABP2):c.252C>T (p.His84=) | Factor VII Marburg I Variant Thrombophilia [RCV001107503]|not provided [RCV000881305] | benign|likely benign | 10 | 113575925 | 113575925 | Human | 1 | name |
| 126911450 | CV1037960 | single nucleotide variant | NM_004132.5(HABP2):c.83C>G (p.Ser28Cys) | not provided [RCV001355363] | uncertain significance | 10 | 113567502 | 113567502 | Human | | name |
| 155963682 | CV2197988 | single nucleotide variant | NM_004132.5(HABP2):c.59C>T (p.Thr20Ile) | not specified [RCV004077198] | uncertain significance | 10 | 113553180 | 113553180 | Human | | name |
| 155930054 | CV2299693 | single nucleotide variant | NM_004132.5(HABP2):c.80T>G (p.Met27Arg) | not specified [RCV004148863] | uncertain significance | 10 | 113567499 | 113567499 | Human | | name |
| 156190734 | CV2385047 | single nucleotide variant | NM_004132.5(HABP2):c.85T>G (p.Leu29Val) | not specified [RCV004228314] | uncertain significance | 10 | 113567504 | 113567504 | Human | | name |
| 329402309 | CV2454127 | single nucleotide variant | NM_004132.5(HABP2):c.57G>T (p.Lys19Asn) | not specified [RCV004265624] | uncertain significance | 10 | 113553178 | 113553178 | Human | | name |
| 11606498 | CV309521 | single nucleotide variant | NM_004132.5(HABP2):c.396C>T (p.Pro132=) | Factor VII Marburg I Variant Thrombophilia [RCV000332439]|HABP2-related disorder [RCV003950002] | likely benign|uncertain significance | 10 | 113577214 | 113577214 | Human | 2 | name , trait , alternate_id |
| 11604434 | CV314337 | single nucleotide variant | NM_004132.5(HABP2):c.957G>A (p.Lys319=) | Factor VII Marburg I Variant Thrombophilia [RCV000309209]|HABP2-related disorder [RCV003977859]|not provided [RCV001672417] | benign|likely benign | 10 | 113581994 | 113581994 | Human | 2 | name , trait , alternate_id |
| 11661096 | CV320309 | single nucleotide variant | NM_004132.5(HABP2):c.402C>T (p.Tyr134=) | Factor VII Marburg I Variant Thrombophilia [RCV000373142] | uncertain significance | 10 | 113577220 | 113577220 | Human | 1 | name |
| 11609288 | CV320753 | single nucleotide variant | NM_004132.5(HABP2):c.95G>T (p.Ser32Ile) | Factor VII Marburg I Variant Thrombophilia [RCV000366003]|not provided [RCV000973246] | likely benign|uncertain significance | 10 | 113567514 | 113567514 | Human | 2 | name |
| 11609288 | CV320753 | single nucleotide variant | NM_004132.5(HABP2):c.95G>T (p.Ser32Ile) | Factor VII Marburg I Variant Thrombophilia [RCV000366003]|not provided [RCV000973246] | likely benign|uncertain significance | 10 | 113567514 | 113567515 | Human | 2 | name |
| 11657778 | CV320755 | single nucleotide variant | NM_004132.5(HABP2):c.930G>A (p.Lys310=) | Factor VII Marburg I Variant Thrombophilia [RCV000344254] | uncertain significance | 10 | 113581967 | 113581967 | Human | 1 | name |
| 15193864 | CV723774 | single nucleotide variant | NM_004132.5(HABP2):c.405C>A (p.Arg135=) | Factor VII Marburg I Variant Thrombophilia [RCV001103880]|not provided [RCV000889062] | benign|likely benign | 10 | 113577223 | 113577223 | Human | 1 | name |
| 28906771 | CV865446 | single nucleotide variant | NM_004132.5(HABP2):c.46C>G (p.Leu16Val) | Factor VII Marburg I Variant Thrombophilia [RCV001106839] | likely benign | 10 | 113553167 | 113553167 | Human | 1 | name |
| 28900538 | CV865449 | single nucleotide variant | NM_004132.5(HABP2):c.342G>A (p.Thr114=) | Factor VII Marburg I Variant Thrombophilia [RCV001103878]|not specified [RCV004917667] | likely benign|uncertain significance | 10 | 113577160 | 113577160 | Human | 1 | name |
| 28901270 | CV865452 | single nucleotide variant | NM_004132.5(HABP2):c.516C>G (p.Ser172=) | Factor VII Marburg I Variant Thrombophilia [RCV001104164] | uncertain significance | 10 | 113578093 | 113578093 | Human | 1 | name |
| 28901281 | CV865455 | single nucleotide variant | NM_004132.5(HABP2):c.633C>T (p.Asn211=) | Factor VII Marburg I Variant Thrombophilia [RCV001104167]|not provided [RCV004707530] | likely benign | 10 | 113578691 | 113578691 | Human | 1 | name |
| 28906946 | CV865457 | single nucleotide variant | NM_004132.5(HABP2):c.753G>A (p.Ala251=) | Factor VII Marburg I Variant Thrombophilia [RCV001106939]|not provided [RCV003425931] | likely benign|uncertain significance | 10 | 113580607 | 113580607 | Human | 1 | name |
| 28908061 | CV865460 | single nucleotide variant | NM_004132.5(HABP2):c.906A>G (p.Gly302=) | Factor VII Marburg I Variant Thrombophilia [RCV001107597] | uncertain significance | 10 | 113581943 | 113581943 | Human | 1 | name |
| 28908066 | CV865462 | single nucleotide variant | NM_004132.5(HABP2):c.951C>A (p.Gly317=) | Factor VII Marburg I Variant Thrombophilia [RCV001107599] | uncertain significance | 10 | 113581988 | 113581988 | Human | 1 | name |
| 152979410 | CV1675546 | single nucleotide variant | NM_004132.5(HABP2):c.1590C>T (p.Gly530=) | Thyroid cancer, nonmedullary, 5 [RCV002244136] | uncertain significance | 10 | 113588276 | 113588276 | Human | 1 | name |
| 401747157 | CV2679022 | single nucleotide variant | NM_004132.5(HABP2):c.253G>A (p.Gly85Ser) | not specified [RCV004295030] | uncertain significance | 10 | 113575926 | 113575926 | Human | | name |
| 401901702 | CV2797898 | single nucleotide variant | NM_004132.5(HABP2):c.259G>A (p.Asp87Asn) | HABP2-related disorder [RCV003393056] | uncertain significance | 10 | 113575932 | 113575932 | Human | | name , trait , alternate_id |
| 401907882 | CV2809632 | single nucleotide variant | NM_004132.5(HABP2):c.275G>C (p.Gly92Ala) | not provided [RCV003422893] | uncertain significance | 10 | 113575948 | 113575948 | Human | | name |
| 11605057 | CV309537 | single nucleotide variant | NM_004132.5(HABP2):c.1050G>A (p.Ala350=) | Factor VII Marburg I Variant Thrombophilia [RCV000315252]|HABP2-related disorder [RCV003977860]|not provided [RCV001707630] | benign|likely benign | 10 | 113582087 | 113582087 | Human | 2 | name , trait , alternate_id |
| 11598994 | CV309539 | single nucleotide variant | NM_004132.5(HABP2):c.1542C>T (p.Thr514=) | Factor VII Marburg I Variant Thrombophilia [RCV000261729] | uncertain significance | 10 | 113588228 | 113588228 | Human | 1 | name |
| 11646530 | CV320300 | single nucleotide variant | NM_004132.5(HABP2):c.158A>G (p.Glu53Gly) | Factor VII Marburg I Variant Thrombophilia [RCV000271133] | uncertain significance | 10 | 113574340 | 113574340 | Human | 1 | name |
| 405294144 | CV3203506 | single nucleotide variant | NM_004132.5(HABP2):c.1266T>C (p.Gly422=) | HABP2-related disorder [RCV003934035] | benign | 10 | 113584176 | 113584176 | Human | | name , trait , alternate_id |
| 405272892 | CV3210241 | single nucleotide variant | NM_004132.5(HABP2):c.1470T>C (p.Ser490=) | HABP2-related disorder [RCV003914476] | likely benign | 10 | 113585890 | 113585890 | Human | | name , trait , alternate_id |
| 405788167 | CV3269767 | single nucleotide variant | NM_004132.5(HABP2):c.139G>A (p.Glu47Lys) | not specified [RCV004398943] | uncertain significance | 10 | 113574321 | 113574321 | Human | | name |
| 8626777 | CV81921 | single nucleotide variant | NM_004132.3(HABP2):c.1128G>A (p.Gly376=) | Malignant melanoma [RCV000062000] | not provided | 10 | 113583249 | 113583249 | Human | | name |
| 28907934 | CV865447 | single nucleotide variant | NM_004132.5(HABP2):c.148A>T (p.Asn50Tyr) | Factor VII Marburg I Variant Thrombophilia [RCV001107501]|not specified [RCV004032126] | uncertain significance | 10 | 113574330 | 113574330 | Human | 1 | name |
| 28900533 | CV865448 | single nucleotide variant | NM_004132.5(HABP2):c.268G>A (p.Val90Ile) | Factor VII Marburg I Variant Thrombophilia [RCV001103876]|HABP2-related disorder [RCV003945812]|not provided [RCV004706004] | likely benign | 10 | 113575941 | 113575941 | Human | 2 | name , trait , alternate_id |
| 28900788 | CV865466 | single nucleotide variant | NM_004132.5(HABP2):c.1092C>T (p.Thr364=) | Factor VII Marburg I Variant Thrombophilia [RCV001103988] | uncertain significance | 10 | 113582129 | 113582129 | Human | 1 | name |
| 28900791 | CV865467 | single nucleotide variant | NM_004132.5(HABP2):c.1107A>G (p.Arg369=) | Factor VII Marburg I Variant Thrombophilia [RCV001103989] | uncertain significance | 10 | 113583228 | 113583228 | Human | 1 | name |
| 156328508 | CV2213625 | single nucleotide variant | NM_004132.5(HABP2):c.365G>T (p.Arg122Leu) | not specified [RCV004089709] | uncertain significance | 10 | 113577183 | 113577183 | Human | | name |
| 156383754 | CV2220186 | single nucleotide variant | NM_004132.5(HABP2):c.841G>A (p.Val281Ile) | not specified [RCV004095654] | likely benign | 10 | 113581878 | 113581878 | Human | | name |
| 155977190 | CV2231819 | single nucleotide variant | NM_004132.5(HABP2):c.335A>G (p.Gln112Arg) | not specified [RCV004098625] | uncertain significance | 10 | 113577153 | 113577153 | Human | | name |
| 155919067 | CV2254797 | single nucleotide variant | NM_004132.5(HABP2):c.663C>A (p.His221Gln) | not specified [RCV004115264] | uncertain significance | 10 | 113578721 | 113578721 | Human | | name |
| 156049129 | CV2271776 | single nucleotide variant | NM_004132.5(HABP2):c.332T>C (p.Val111Ala) | not specified [RCV004130615] | uncertain significance | 10 | 113577150 | 113577150 | Human | | name |
| 156271889 | CV2280826 | single nucleotide variant | NM_004132.5(HABP2):c.499C>T (p.Arg167Trp) | not specified [RCV004145086] | uncertain significance | 10 | 113578076 | 113578076 | Human | | name |
| 156354505 | CV2324290 | single nucleotide variant | NM_004132.5(HABP2):c.637C>A (p.His213Asn) | not specified [RCV004177018] | uncertain significance | 10 | 113578695 | 113578695 | Human | | name |
| 155965395 | CV2330568 | single nucleotide variant | NM_004132.5(HABP2):c.787A>G (p.Asn263Asp) | not specified [RCV004181125] | uncertain significance | 10 | 113580641 | 113580641 | Human | | name |
| 156325350 | CV2335244 | single nucleotide variant | NM_004132.5(HABP2):c.471C>A (p.Asn157Lys) | not specified [RCV004186814] | uncertain significance | 10 | 113578048 | 113578048 | Human | | name |
| 155984083 | CV2348194 | single nucleotide variant | NM_004132.5(HABP2):c.706G>A (p.Glu236Lys) | not specified [RCV004190836] | uncertain significance | 10 | 113578764 | 113578764 | Human | | name |
| 155925385 | CV2358316 | single nucleotide variant | NM_004132.5(HABP2):c.387G>C (p.Gln129His) | not specified [RCV004212097] | uncertain significance | 10 | 113577205 | 113577205 | Human | | name |
| 155984469 | CV2367933 | single nucleotide variant | NM_004132.5(HABP2):c.427A>G (p.Thr143Ala) | not specified [RCV004223030] | uncertain significance | 10 | 113577245 | 113577245 | Human | | name |
| 329390913 | CV2437423 | single nucleotide variant | NM_004132.5(HABP2):c.473C>T (p.Pro158Leu) | not specified [RCV004256290] | uncertain significance | 10 | 113578050 | 113578050 | Human | | name |
| 329356346 | CV2460267 | single nucleotide variant | NM_004132.5(HABP2):c.365G>A (p.Arg122Gln) | not specified [RCV004266820] | uncertain significance | 10 | 113577183 | 113577183 | Human | | name |
| 401771319 | CV2701000 | single nucleotide variant | NM_004132.5(HABP2):c.398A>C (p.Tyr133Ser) | not specified [RCV004307254] | uncertain significance | 10 | 113577216 | 113577216 | Human | | name |
| 401766457 | CV2725556 | single nucleotide variant | NM_004132.5(HABP2):c.578A>T (p.Asp193Val) | not specified [RCV004321955] | uncertain significance | 10 | 113578636 | 113578636 | Human | | name |
| 401879235 | CV2788010 | single nucleotide variant | NM_004132.5(HABP2):c.641C>T (p.Ala214Val) | not specified [RCV004358663] | uncertain significance | 10 | 113578699 | 113578699 | Human | | name |
| 11601015 | CV309526 | single nucleotide variant | NM_004132.5(HABP2):c.497C>T (p.Ser166Phe) | Factor VII Marburg I Variant Thrombophilia [RCV000278601] | likely benign|uncertain significance | 10 | 113578074 | 113578074 | Human | 1 | name |
| 11601652 | CV309531 | single nucleotide variant | NM_004132.5(HABP2):c.752C>T (p.Ala251Val) | Factor VII Marburg I Variant Thrombophilia [RCV000284254]|not specified [RCV004619254] | uncertain significance | 10 | 113580606 | 113580606 | Human | 1 | name |
| 11604327 | CV309532 | single nucleotide variant | NM_004132.5(HABP2):c.905G>A (p.Gly302Glu) | Factor VII Marburg I Variant Thrombophilia [RCV000308139] | uncertain significance | 10 | 113581942 | 113581942 | Human | 1 | name |
| 11607108 | CV314334 | single nucleotide variant | NM_004132.5(HABP2):c.807A>C (p.Glu269Asp) | Factor VII Marburg I Variant Thrombophilia [RCV000339332] | uncertain significance | 10 | 113580661 | 113580661 | Human | 1 | name |
| 11611963 | CV314335 | single nucleotide variant | NM_004132.5(HABP2):c.830C>T (p.Ser277Leu) | Factor VII Marburg I Variant Thrombophilia [RCV000401497]|not provided [RCV000947285] | benign|likely benign | 10 | 113580684 | 113580684 | Human | 1 | name |
| 11611788 | CV314336 | single nucleotide variant | NM_004132.5(HABP2):c.947G>A (p.Gly316Glu) | Factor VII Marburg I Variant Thrombophilia [RCV000399498]|Thrombophilia due to thrombin defect [RCV002504050]|not provided [RCV000950753] | benign|likely benign | 10 | 113581984 | 113581984 | Human | 2 | name |
| 405788178 | CV3269769 | single nucleotide variant | NM_004132.5(HABP2):c.341C>T (p.Thr114Met) | not specified [RCV004398945] | uncertain significance | 10 | 113577159 | 113577159 | Human | | name |
| 405788183 | CV3269770 | single nucleotide variant | NM_004132.5(HABP2):c.403C>T (p.Arg135Cys) | not specified [RCV004398946] | uncertain significance | 10 | 113577221 | 113577221 | Human | | name |
| 405788189 | CV3269771 | single nucleotide variant | NM_004132.5(HABP2):c.487G>A (p.Ala163Thr) | not specified [RCV004398947] | uncertain significance | 10 | 113578064 | 113578064 | Human | | name |
| 405788194 | CV3269772 | single nucleotide variant | NM_004132.5(HABP2):c.488C>T (p.Ala163Val) | not specified [RCV004398948] | uncertain significance | 10 | 113578065 | 113578065 | Human | | name |
| 405788198 | CV3269773 | single nucleotide variant | NM_004132.5(HABP2):c.550G>A (p.Gly184Arg) | not specified [RCV004398949] | uncertain significance | 10 | 113578127 | 113578127 | Human | | name |
| 405788213 | CV3269776 | single nucleotide variant | NM_004132.5(HABP2):c.701A>G (p.Asp234Gly) | not specified [RCV004398952] | uncertain significance | 10 | 113578759 | 113578759 | Human | | name |
| 405788218 | CV3269777 | single nucleotide variant | NM_004132.5(HABP2):c.802T>C (p.Trp268Arg) | not specified [RCV004398953] | uncertain significance | 10 | 113580656 | 113580656 | Human | | name |
| 405788223 | CV3269778 | single nucleotide variant | NM_004132.5(HABP2):c.883C>T (p.Leu295Phe) | not specified [RCV004398954] | uncertain significance | 10 | 113581920 | 113581920 | Human | | name |
| 405788228 | CV3269779 | single nucleotide variant | NM_004132.5(HABP2):c.962C>T (p.Thr321Met) | not specified [RCV004398955] | uncertain significance | 10 | 113581999 | 113581999 | Human | | name |
| 405788238 | CV3269781 | single nucleotide variant | NM_004132.5(HABP2):c.985G>A (p.Ala329Thr) | not specified [RCV004398957] | uncertain significance | 10 | 113582022 | 113582022 | Human | | name |
| 405788243 | CV3269782 | single nucleotide variant | NM_004132.5(HABP2):c.986C>T (p.Ala329Val) | not specified [RCV004398958] | uncertain significance | 10 | 113582023 | 113582023 | Human | | name |
| 407513921 | CV3443881 | single nucleotide variant | NM_004132.5(HABP2):c.890G>T (p.Gly297Val) | not specified [RCV004627358] | uncertain significance | 10 | 113581927 | 113581927 | Human | | name |
| 407513927 | CV3443883 | single nucleotide variant | NM_004132.5(HABP2):c.383C>G (p.Thr128Ser) | not specified [RCV004627360] | uncertain significance | 10 | 113577201 | 113577201 | Human | | name |
| 407513930 | CV3443884 | single nucleotide variant | NM_004132.5(HABP2):c.619A>G (p.Asn207Asp) | not specified [RCV004627361] | uncertain significance | 10 | 113578677 | 113578677 | Human | | name |
| 596938422 | CV3550227 | single nucleotide variant | NM_004132.5(HABP2):c.965C>T (p.Ala322Val) | Thyroid cancer, nonmedullary, 5 [RCV004813529] | uncertain significance | 10 | 113582002 | 113582002 | Human | 1 | name |
| 597780933 | CV3685477 | single nucleotide variant | NM_004132.5(HABP2):c.447A>C (p.Gln149His) | not specified [RCV004930768] | uncertain significance | 10 | 113577265 | 113577265 | Human | | name |
| 597780938 | CV3685478 | single nucleotide variant | NM_004132.5(HABP2):c.508C>T (p.Arg170Trp) | not specified [RCV004930769] | uncertain significance | 10 | 113578085 | 113578085 | Human | | name |
| 597780941 | CV3685480 | single nucleotide variant | NM_004132.5(HABP2):c.827G>T (p.Cys276Phe) | not specified [RCV004930770] | uncertain significance | 10 | 113580681 | 113580681 | Human | | name |
| 597780946 | CV3685482 | single nucleotide variant | NM_004132.5(HABP2):c.485G>A (p.Gly162Glu) | not specified [RCV004930771] | uncertain significance | 10 | 113578062 | 113578062 | Human | | name |
| 597708958 | CV3685484 | single nucleotide variant | NM_004132.5(HABP2):c.534T>G (p.Cys178Trp) | not specified [RCV004917261] | uncertain significance | 10 | 113578111 | 113578111 | Human | | name |
| 28900540 | CV865450 | single nucleotide variant | NM_004132.5(HABP2):c.364C>T (p.Arg122Trp) | Factor VII Marburg I Variant Thrombophilia [RCV001103879]|HABP2-related disorder [RCV003953475]|Thrombophilia due to thrombin defect [RCV002497512] | benign|likely benign | 10 | 113577182 | 113577182 | Human | 3 | name , trait , alternate_id |
| 28901267 | CV865451 | single nucleotide variant | NM_004132.5(HABP2):c.466C>T (p.Pro156Ser) | Factor VII Marburg I Variant Thrombophilia [RCV001104163] | uncertain significance | 10 | 113578043 | 113578043 | Human | 1 | name |
| 28901273 | CV865453 | single nucleotide variant | NM_004132.5(HABP2):c.538G>A (p.Asp180Asn) | Factor VII Marburg I Variant Thrombophilia [RCV001104165] | uncertain significance | 10 | 113578115 | 113578115 | Human | 1 | name |
| 28901278 | CV865454 | single nucleotide variant | NM_004132.5(HABP2):c.621T>G (p.Asn207Lys) | Factor VII Marburg I Variant Thrombophilia [RCV001104166] | uncertain significance | 10 | 113578679 | 113578679 | Human | 1 | name |
| 28906941 | CV865456 | single nucleotide variant | NM_004132.5(HABP2):c.698A>G (p.Glu233Gly) | Factor VII Marburg I Variant Thrombophilia [RCV001106937] | uncertain significance | 10 | 113578756 | 113578756 | Human | 1 | name |
| 28906949 | CV865458 | single nucleotide variant | NM_004132.5(HABP2):c.866C>G (p.Thr289Ser) | Factor VII Marburg I Variant Thrombophilia [RCV001106940] | uncertain significance | 10 | 113581903 | 113581903 | Human | 1 | name |
| 28906952 | CV865459 | single nucleotide variant | NM_004132.5(HABP2):c.899C>T (p.Ser300Phe) | Factor VII Marburg I Variant Thrombophilia [RCV001106941]|not specified [RCV004032122] | uncertain significance | 10 | 113581936 | 113581936 | Human | 1 | name |
| 28908064 | CV865461 | single nucleotide variant | NM_004132.5(HABP2):c.933C>G (p.Ile311Met) | Factor VII Marburg I Variant Thrombophilia [RCV001107598] | uncertain significance | 10 | 113581970 | 113581970 | Human | 1 | name |
| 28908068 | CV865463 | single nucleotide variant | NM_004132.5(HABP2):c.953T>C (p.Phe318Ser) | Factor VII Marburg I Variant Thrombophilia [RCV001107600] | uncertain significance | 10 | 113581990 | 113581990 | Human | 1 | name |
| 28908070 | CV865464 | single nucleotide variant | NM_004132.5(HABP2):c.968G>A (p.Gly323Asp) | Factor VII Marburg I Variant Thrombophilia [RCV001107601] | uncertain significance | 10 | 113582005 | 113582005 | Human | 1 | name |
| 8559034 | CV21013 | single nucleotide variant | NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) | FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM [RCV000006338]|Factor VII Marburg I Variant Thrombophilia [RCV000286268]|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO [RCV000190487]|Thyroid cancer, nonmedullary, 5 [RCV005364871]|Venous thromboembolism, susceptibility to [RCV000006340]|not provided [RCV001753406] | pathogenic|risk factor|benign|likely benign|uncertain significance | 10 | 113588287 | 113588287 | Human | 41 | name |
| 8559034 | CV21013 | single nucleotide variant | NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) | FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM [RCV000006338]|Factor VII Marburg I Variant Thrombophilia [RCV000286268]|THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO [RCV000190487]|Thyroid cancer, nonmedullary, 5 [RCV005364871]|Venous thromboembolism, susceptibility to [RCV000006340]|not provided [RCV001753406] | pathogenic|risk factor|benign|likely benign|uncertain significance | 10 | 113588287 | 113588288 | Human | 41 | name |
| 156343367 | CV2232694 | single nucleotide variant | NM_004132.5(HABP2):c.1427T>C (p.Leu476Ser) | not specified [RCV004101354] | uncertain significance | 10 | 113585847 | 113585847 | Human | | name |
| 156012228 | CV2291235 | single nucleotide variant | NM_004132.5(HABP2):c.1291G>T (p.Val431Leu) | not specified [RCV004153525] | uncertain significance | 10 | 113584201 | 113584201 | Human | | name |
| 156332643 | CV2339814 | single nucleotide variant | NM_004132.5(HABP2):c.1475T>A (p.Ile492Asn) | not specified [RCV004196504] | uncertain significance | 10 | 113585895 | 113585895 | Human | | name |
| 156040440 | CV2387604 | single nucleotide variant | NM_004132.5(HABP2):c.1043G>A (p.Gly348Asp) | not specified [RCV004234155] | uncertain significance | 10 | 113582080 | 113582080 | Human | | name |
| 329393144 | CV2449520 | single nucleotide variant | NM_004132.5(HABP2):c.1658C>G (p.Thr553Ser) | not specified [RCV004268458] | uncertain significance | 10 | 113588344 | 113588344 | Human | | name |
| 329362324 | CV2463815 | single nucleotide variant | NM_004132.5(HABP2):c.1385G>A (p.Arg462His) | not specified [RCV004279904] | uncertain significance | 10 | 113585805 | 113585805 | Human | | name |
| 401719228 | CV2679461 | single nucleotide variant | NM_004132.5(HABP2):c.1268A>T (p.His423Leu) | not specified [RCV004285981] | uncertain significance | 10 | 113584178 | 113584178 | Human | | name |
| 401872308 | CV2779445 | single nucleotide variant | NM_004132.5(HABP2):c.1444C>T (p.Leu482Phe) | not specified [RCV004351083] | uncertain significance | 10 | 113585864 | 113585864 | Human | | name |
| 401884834 | CV2786592 | single nucleotide variant | NM_004132.5(HABP2):c.1070T>G (p.Val357Gly) | not specified [RCV004363732] | uncertain significance | 10 | 113582107 | 113582107 | Human | | name |
| 11600483 | CV309533 | single nucleotide variant | NM_004132.5(HABP2):c.1048G>A (p.Ala350Thr) | Factor VII Marburg I Variant Thrombophilia [RCV000274089]|not specified [RCV004021466] | uncertain significance | 10 | 113582085 | 113582085 | Human | 1 | name |
| 11661414 | CV309542 | single nucleotide variant | NM_004132.5(HABP2):c.1561T>C (p.Tyr521His) | Factor VII Marburg I Variant Thrombophilia [RCV000376114] | uncertain significance | 10 | 113588247 | 113588247 | Human | 1 | name |
| 11609461 | CV314338 | single nucleotide variant | NM_004132.5(HABP2):c.1030G>A (p.Gly344Ser) | Factor VII Marburg I Variant Thrombophilia [RCV000368744] | uncertain significance | 10 | 113582067 | 113582067 | Human | 1 | name |
| 11608604 | CV314342 | single nucleotide variant | NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala) | Factor VII Marburg I Variant Thrombophilia [RCV000357334]|HABP2-related disorder [RCV003910093]|not provided [RCV003422224] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 10 | 113585799 | 113585799 | Human | 2 | name , trait , alternate_id |
| 11644695 | CV320316 | single nucleotide variant | NM_004132.5(HABP2):c.1156C>T (p.His386Tyr) | Factor VII Marburg I Variant Thrombophilia [RCV000261272] | uncertain significance | 10 | 113583277 | 113583277 | Human | 1 | name |
| 11605170 | CV320759 | single nucleotide variant | NM_004132.5(HABP2):c.1177G>C (p.Glu393Gln) | Factor VII Marburg I Variant Thrombophilia [RCV000316525]|not provided [RCV001753761] | likely benign | 10 | 113583298 | 113583298 | Human | 1 | name |
| 11605596 | CV320762 | single nucleotide variant | NM_004132.5(HABP2):c.1555G>A (p.Gly519Ser) | Factor VII Marburg I Variant Thrombophilia [RCV000321532]|not specified [RCV005348100] | uncertain significance | 10 | 113588241 | 113588241 | Human | 1 | name |
| 405788152 | CV3269764 | single nucleotide variant | NM_004132.5(HABP2):c.1049C>T (p.Ala350Val) | not specified [RCV004398940] | uncertain significance | 10 | 113582086 | 113582086 | Human | | name |
| 405788156 | CV3269765 | single nucleotide variant | NM_004132.5(HABP2):c.1312G>C (p.Asp438His) | not specified [RCV004398941] | uncertain significance | 10 | 113584222 | 113584222 | Human | | name |
| 405788162 | CV3269766 | single nucleotide variant | NM_004132.5(HABP2):c.1328C>G (p.Ser443Cys) | not specified [RCV004398942] | uncertain significance | 10 | 113584238 | 113584238 | Human | | name |
| 405788173 | CV3269768 | single nucleotide variant | NM_004132.5(HABP2):c.1571A>G (p.Tyr524Cys) | not specified [RCV004398944] | uncertain significance | 10 | 113588257 | 113588257 | Human | | name |
| 405854599 | CV3392459 | single nucleotide variant | NM_004132.5(HABP2):c.1520G>T (p.Gly507Val) | Thyroid cancer, nonmedullary, 5 [RCV004527488] | uncertain significance | 10 | 113588206 | 113588206 | Human | 1 | name |
| 407513924 | CV3443882 | single nucleotide variant | NM_004132.5(HABP2):c.1191G>C (p.Lys397Asn) | not specified [RCV004627359] | uncertain significance | 10 | 113583312 | 113583312 | Human | | name |
| 597708928 | CV3685476 | single nucleotide variant | NM_004132.5(HABP2):c.1609C>G (p.Pro537Ala) | not specified [RCV004917258] | uncertain significance | 10 | 113588295 | 113588295 | Human | | name |
| 597708940 | CV3685479 | single nucleotide variant | NM_004132.5(HABP2):c.1300G>C (p.Val434Leu) | not specified [RCV004917259] | uncertain significance | 10 | 113584210 | 113584210 | Human | | name |
| 597708949 | CV3685481 | single nucleotide variant | NM_004132.5(HABP2):c.1661T>A (p.Ile554Asn) | not specified [RCV004917260] | uncertain significance | 10 | 113588347 | 113588347 | Human | | name |
| 597780949 | CV3685483 | single nucleotide variant | NM_004132.5(HABP2):c.1400C>G (p.Ala467Gly) | not specified [RCV004930772] | uncertain significance | 10 | 113585820 | 113585820 | Human | | name |
| 598246120 | CV3971281 | single nucleotide variant | NM_004132.5(HABP2):c.1127G>A (p.Gly376Glu) | not specified [RCV005345111] | uncertain significance | 10 | 113583248 | 113583248 | Human | | name |
| 598255070 | CV3971282 | single nucleotide variant | NM_004132.5(HABP2):c.1457T>C (p.Met486Thr) | not specified [RCV005346494] | uncertain significance | 10 | 113585877 | 113585877 | Human | | name |
| 28908073 | CV865465 | single nucleotide variant | NM_004132.5(HABP2):c.1006C>T (p.Pro336Ser) | Factor VII Marburg I Variant Thrombophilia [RCV001107602]|not specified [RCV004032128] | uncertain significance | 10 | 113582043 | 113582043 | Human | 1 | name |
| 28901504 | CV865468 | single nucleotide variant | NM_004132.5(HABP2):c.1384C>T (p.Arg462Cys) | Factor VII Marburg I Variant Thrombophilia [RCV001104281] | uncertain significance | 10 | 113585804 | 113585804 | Human | 1 | name |
| 28901506 | CV865469 | single nucleotide variant | NM_004132.5(HABP2):c.1637T>C (p.Phe546Ser) | Factor VII Marburg I Variant Thrombophilia [RCV001104282]|not provided [RCV004693614] | uncertain significance | 10 | 113588323 | 113588323 | Human | 1 | name |
| 14693439 | CV620345 | duplication | NM_004132.5(HABP2):c.1159_1162dup (p.Gln388fs) | Factor VII Marburg I Variant Thrombophilia [RCV000779016] | uncertain significance | 10 | 113583279 | 113583280 | Human | | name |