| 156443844 | CV1941114 | single nucleotide variant | NM_002444.3(MSN):c.96+8G>A | not provided [RCV003114753] | likely benign | X | 65716909 | 65716909 | Human | | name |
| 156380242 | CV2187412 | single nucleotide variant | NM_002444.3(MSN):c.13-1G>A | not provided [RCV003050428] | likely pathogenic|uncertain significance | X | 65716817 | 65716817 | Human | | name |
| 401927204 | CV2829154 | single nucleotide variant | NM_002444.3(MSN):c.13-5C>A | not provided [RCV003438434] | uncertain significance | X | 65716813 | 65716813 | Human | | name |
| 15099767 | CV761004 | single nucleotide variant | NM_002444.3(MSN):c.96+7C>T | MSN-related disorder [RCV003950804]|not provided [RCV000914505] | benign|likely benign | X | 65716908 | 65716908 | Human | 1 | name , trait , alternate_id |
| 151787274 | CV1393565 | single nucleotide variant | NM_002444.3(MSN):c.960-4C>T | not provided [RCV001972679] | likely benign | X | 65736791 | 65736791 | Human | | name |
| 151844739 | CV1416884 | single nucleotide variant | NM_002444.3(MSN):c.698+5A>G | not provided [RCV001978133] | uncertain significance | X | 65731989 | 65731989 | Human | | name |
| 156398388 | CV1985457 | single nucleotide variant | NM_002444.3(MSN):c.698+4T>A | not provided [RCV002635733] | uncertain significance | X | 65731988 | 65731988 | Human | | name |
| 156156819 | CV2094920 | deletion | NM_002444.3(MSN):c.12+11del | not provided [RCV002890840] | likely benign | X | 65667863 | 65667863 | Human | | name |
| 405005537 | CV3120838 | single nucleotide variant | NM_002444.3(MSN):c.796-3C>T | not provided [RCV003828441] | benign | X | 65735264 | 65735264 | Human | | name |
| 405159004 | CV3124909 | single nucleotide variant | NM_002444.3(MSN):c.12+10G>A | not provided [RCV003818180] | likely benign | X | 65667863 | 65667863 | Human | | name |
| 405211634 | CV3173410 | single nucleotide variant | NM_002444.3(MSN):c.13-10C>A | not provided [RCV003862159] | likely benign | X | 65716808 | 65716808 | Human | | name |
| 597881900 | CV3810614 | single nucleotide variant | NM_002444.3(MSN):c.796-6C>T | not provided [RCV005149883] | likely benign | X | 65735261 | 65735261 | Human | | name |
| 127306097 | CV1159771 | single nucleotide variant | NM_002444.3(MSN):c.1345-8C>T | MSN-related disorder [RCV003908841]|not provided [RCV001516505] | benign | X | 65738962 | 65738962 | Human | 1 | name , trait , alternate_id |
| 152035841 | CV1545844 | single nucleotide variant | NM_002444.3(MSN):c.468-20A>G | not provided [RCV002164922] | likely benign | X | 65731087 | 65731087 | Human | | name |
| 152168697 | CV1548127 | single nucleotide variant | NM_002444.3(MSN):c.960-14A>G | not provided [RCV002161205] | benign | X | 65736781 | 65736781 | Human | | name |
| 152066929 | CV1557127 | single nucleotide variant | NM_002444.3(MSN):c.192+15C>A | not provided [RCV002191286] | benign | X | 65727924 | 65727924 | Human | | name |
| 152163948 | CV1560321 | single nucleotide variant | NM_002444.3(MSN):c.795+10T>A | not provided [RCV002160149] | likely benign | X | 65733290 | 65733290 | Human | | name |
| 152068963 | CV1570713 | single nucleotide variant | NM_002444.3(MSN):c.1569+8A>C | not provided [RCV002129349] | likely benign | X | 65739202 | 65739202 | Human | | name |
| 152071513 | CV1591619 | single nucleotide variant | NM_002444.3(MSN):c.1252-8A>T | not provided [RCV002210041] | likely benign | X | 65738517 | 65738517 | Human | | name |
| 152075686 | CV1629504 | single nucleotide variant | NM_002444.3(MSN):c.193-14C>T | not provided [RCV002130184] | likely benign | X | 65729424 | 65729424 | Human | | name |
| 156410724 | CV1929061 | single nucleotide variant | NM_002444.3(MSN):c.1345-3C>T | not provided [RCV002607960] | benign | X | 65738967 | 65738967 | Human | | name |
| 156132587 | CV1962776 | single nucleotide variant | NM_002444.3(MSN):c.193-10C>T | not provided [RCV002572285] | benign | X | 65729428 | 65729428 | Human | | name |
| 156417518 | CV1967003 | single nucleotide variant | NM_002444.3(MSN):c.796-15C>T | not provided [RCV002590232] | likely benign | X | 65735252 | 65735252 | Human | | name |
| 155910532 | CV1980120 | single nucleotide variant | NM_002444.3(MSN):c.1570-7C>A | not provided [RCV002613956] | likely benign | X | 65739722 | 65739722 | Human | | name |
| 156139768 | CV2082259 | single nucleotide variant | NM_002444.3(MSN):c.795+16C>T | not provided [RCV002871940] | likely benign | X | 65733296 | 65733296 | Human | | name |
| 156201580 | CV2110073 | single nucleotide variant | NM_002444.3(MSN):c.1252-4G>A | not provided [RCV002957399] | benign | X | 65738521 | 65738521 | Human | | name |
| 155966582 | CV2134899 | single nucleotide variant | NM_002444.3(MSN):c.1091-8C>T | not provided [RCV002972645] | likely benign | X | 65737170 | 65737170 | Human | | name |
| 155994768 | CV2171500 | single nucleotide variant | NM_002444.3(MSN):c.1344+7C>G | not provided [RCV003034494] | likely benign | X | 65738624 | 65738624 | Human | | name |
| 156209763 | CV2175603 | single nucleotide variant | NM_002444.3(MSN):c.795+14C>T | not provided [RCV003024760] | likely benign | X | 65733294 | 65733294 | Human | | name |
| 405217453 | CV2972321 | single nucleotide variant | NM_002444.3(MSN):c.468-18C>T | not provided [RCV003680212] | uncertain significance | X | 65731089 | 65731089 | Human | | name |
| 405229339 | CV2973790 | single nucleotide variant | NM_002444.3(MSN):c.468-14C>T | not provided [RCV003681896] | likely benign | X | 65731093 | 65731093 | Human | | name |
| 405082186 | CV3016993 | single nucleotide variant | NM_002444.3(MSN):c.1344+7C>T | not provided [RCV003699128] | likely benign | X | 65738624 | 65738624 | Human | | name |
| 597926511 | CV3778506 | single nucleotide variant | NM_002444.3(MSN):c.1251+1G>A | not provided [RCV005131029] | likely pathogenic | X | 65737339 | 65737339 | Human | | name |
| 597941456 | CV3785796 | single nucleotide variant | NM_002444.3(MSN):c.699-18T>C | not provided [RCV005133689] | likely benign | X | 65733166 | 65733166 | Human | | name |
| 597974477 | CV3831669 | single nucleotide variant | NM_002444.3(MSN):c.552-10T>C | not provided [RCV005168608] | likely benign | X | 65731828 | 65731828 | Human | | name |
| 597945933 | CV3844981 | single nucleotide variant | NM_002444.3(MSN):c.1570-3C>T | not provided [RCV005188967] | uncertain significance | X | 65739726 | 65739726 | Human | | name |
| 597927620 | CV3855534 | single nucleotide variant | NM_002444.3(MSN):c.193-20A>C | not provided [RCV005206133] | likely benign | X | 65729418 | 65729418 | Human | | name |
| 127295938 | CV1159772 | single nucleotide variant | NM_002444.3(MSN):c.1570-14A>G | not provided [RCV001512381] | benign | X | 65739715 | 65739715 | Human | | name |
| 152158654 | CV1557235 | single nucleotide variant | NM_002444.3(MSN):c.1091-18C>G | not provided [RCV002203052] | likely benign | X | 65737160 | 65737160 | Human | | name |
| 156330288 | CV1954044 | single nucleotide variant | NM_002444.3(MSN):c.1569+16C>T | not provided [RCV002579959] | likely benign | X | 65739210 | 65739210 | Human | | name |
| 156281565 | CV1964406 | single nucleotide variant | NM_002444.3(MSN):c.1091-11T>C | not provided [RCV002577496] | benign | X | 65737167 | 65737167 | Human | | name |
| 156192759 | CV2024216 | single nucleotide variant | NM_002444.3(MSN):c.1344+17A>C | not provided [RCV002711143] | likely benign | X | 65738634 | 65738634 | Human | | name |
| 155983325 | CV2101141 | single nucleotide variant | NM_002444.3(MSN):c.1091-13C>T | not provided [RCV002882040] | likely benign | X | 65737165 | 65737165 | Human | | name |
| 405164138 | CV3125252 | single nucleotide variant | NM_002444.3(MSN):c.1344+11G>A | not provided [RCV003818524] | likely benign | X | 65738628 | 65738628 | Human | | name |
| 405213540 | CV3127581 | single nucleotide variant | NM_002444.3(MSN):c.1251+14G>A | not provided [RCV003823629] | likely benign | X | 65737352 | 65737352 | Human | | name |
| 405057575 | CV3138645 | single nucleotide variant | NM_002444.3(MSN):c.1344+20G>A | not provided [RCV003832490] | likely benign | X | 65738637 | 65738637 | Human | | name |
| 597884944 | CV3834927 | single nucleotide variant | NM_002444.3(MSN):c.1344+14C>T | not provided [RCV005178651] | benign | X | 65738631 | 65738631 | Human | | name |
| 405228213 | CV2980668 | insertion | NM_002444.3(MSN):c.12+17_12+18insC | not provided [RCV003711070] | likely benign | X | 65667870 | 65667871 | Human | | name |
| 156390670 | CV1991193 | single nucleotide variant | NM_002444.3(MSN):c.60C>T (p.Ile20=) | not provided [RCV002634957] | likely benign | X | 65716865 | 65716865 | Human | | name |
| 155987134 | CV2030538 | single nucleotide variant | NM_002444.3(MSN):c.75C>G (p.Thr25=) | not provided [RCV002755588] | likely benign | X | 65716880 | 65716880 | Human | | name |
| 155957620 | CV2033514 | single nucleotide variant | NM_002444.3(MSN):c.78G>A (p.Gly26=) | not provided [RCV002731012] | likely benign | X | 65716883 | 65716883 | Human | | name |
| 156178954 | CV2177651 | single nucleotide variant | NM_002444.3(MSN):c.93C>T (p.Asp31=) | not provided [RCV003057466] | likely benign | X | 65716898 | 65716898 | Human | | name |
| 597870165 | CV3749855 | single nucleotide variant | NM_002444.3(MSN):c.72C>A (p.Thr24=) | not provided [RCV005068536] | likely benign | X | 65716877 | 65716877 | Human | | name |
| 151722489 | CV1406654 | single nucleotide variant | NM_002444.3(MSN):c.22C>T (p.Arg8Cys) | not provided [RCV002003870] | uncertain significance | X | 65716827 | 65716827 | Human | | name |
| 152146694 | CV1545702 | single nucleotide variant | NM_002444.3(MSN):c.246C>G (p.Ala82=) | not provided [RCV002157544] | likely benign | X | 65729491 | 65729491 | Human | | name |
| 152113454 | CV1644639 | single nucleotide variant | NM_002444.3(MSN):c.171C>T (p.Thr57=) | not provided [RCV002174621] | likely benign | X | 65727888 | 65727888 | Human | | name |
| 152040178 | CV1649143 | single nucleotide variant | NM_002444.3(MSN):c.23G>A (p.Arg8His) | not provided [RCV002206228] | likely benign | X | 65716828 | 65716828 | Human | | name |
| 156211574 | CV1929193 | single nucleotide variant | NM_002444.3(MSN):c.270C>T (p.Ser90=) | not provided [RCV002644018] | likely benign | X | 65729515 | 65729515 | Human | | name |
| 405240130 | CV3166104 | single nucleotide variant | NM_002444.3(MSN):c.123A>G (p.Glu41=) | not provided [RCV003867116] | likely benign | X | 65727840 | 65727840 | Human | | name |
| 598127303 | CV3888118 | single nucleotide variant | NM_002444.3(MSN):c.258T>G (p.Pro86=) | not provided [RCV005242804] | likely benign | X | 65729503 | 65729503 | Human | | name |
| 126915815 | CV1052518 | single nucleotide variant | NM_002444.3(MSN):c.63G>T (p.Gln21His) | not provided [RCV001360204] | uncertain significance | X | 65716868 | 65716868 | Human | | name |
| 127318589 | CV1159768 | single nucleotide variant | NM_002444.3(MSN):c.528T>C (p.His176=) | MSN-related disorder [RCV003980609]|not provided [RCV001521718] | benign | X | 65731167 | 65731167 | Human | 1 | name , trait , alternate_id |
| 152030490 | CV1534245 | single nucleotide variant | NM_002444.3(MSN):c.373C>T (p.Leu125=) | not provided [RCV002086149] | likely benign | X | 65729618 | 65729618 | Human | | name |
| 152145033 | CV1543217 | single nucleotide variant | NM_002444.3(MSN):c.657G>C (p.Gly219=) | not provided [RCV002178591] | likely benign | X | 65731943 | 65731943 | Human | | name |
| 152037569 | CV1572157 | single nucleotide variant | NM_002444.3(MSN):c.429G>A (p.Lys143=) | not provided [RCV002205845] | likely benign | X | 65729674 | 65729674 | Human | | name |
| 152142341 | CV1587525 | single nucleotide variant | NM_002444.3(MSN):c.906G>A (p.Val302=) | not provided [RCV002138335] | likely benign | X | 65735377 | 65735377 | Human | | name |
| 152165615 | CV1611397 | single nucleotide variant | NM_002444.3(MSN):c.444C>T (p.Ala148=) | not provided [RCV002141753] | likely benign | X | 65729689 | 65729689 | Human | | name |
| 152032026 | CV1624646 | single nucleotide variant | NM_002444.3(MSN):c.609G>A (p.Val203=) | not provided [RCV002186818] | likely benign | X | 65731895 | 65731895 | Human | | name |
| 152047382 | CV1656778 | single nucleotide variant | NM_002444.3(MSN):c.354G>A (p.Pro118=) | not provided [RCV002126806] | benign | X | 65729599 | 65729599 | Human | | name |
| 156407151 | CV1874910 | single nucleotide variant | NM_002444.3(MSN):c.363C>T (p.Thr121=) | not provided [RCV003070747] | likely benign | X | 65729608 | 65729608 | Human | | name |
| 156020176 | CV1902903 | single nucleotide variant | NM_002444.3(MSN):c.768C>A (p.Val256=) | MSN-related disorder [RCV003963634]|not provided [RCV003100156] | benign|likely benign | X | 65733253 | 65733253 | Human | 1 | name , trait , alternate_id |
| 156295528 | CV2065288 | single nucleotide variant | NM_002444.3(MSN):c.49G>T (p.Glu17Ter) | not provided [RCV002856924] | pathogenic|uncertain significance | X | 65716854 | 65716854 | Human | | name |
| 155998368 | CV2074464 | single nucleotide variant | NM_002444.3(MSN):c.342T>C (p.Asp114=) | not provided [RCV002843289] | likely benign | X | 65729587 | 65729587 | Human | | name |
| 155981523 | CV2140486 | single nucleotide variant | NM_002444.3(MSN):c.639C>T (p.Gly213=) | not provided [RCV002996126] | likely benign | X | 65731925 | 65731925 | Human | | name |
| 156358995 | CV2183942 | single nucleotide variant | NM_002444.3(MSN):c.68A>G (p.Asn23Ser) | not provided [RCV003048885] | uncertain significance | X | 65716873 | 65716873 | Human | | name |
| 156289187 | CV2299312 | single nucleotide variant | NM_002444.3(MSN):c.58A>G (p.Ile20Val) | Inborn genetic diseases [RCV002878739] | uncertain significance | X | 65716863 | 65716863 | Human | 1 | name |
| 402513574 | CV2855426 | single nucleotide variant | NM_002444.3(MSN):c.846C>T (p.Ala282=) | not provided [RCV003547219] | likely benign | X | 65735317 | 65735317 | Human | | name |
| 402516132 | CV2856735 | single nucleotide variant | NM_002444.3(MSN):c.846C>G (p.Ala282=) | not provided [RCV003575502] | likely benign | X | 65735317 | 65735317 | Human | | name |
| 405085856 | CV2862154 | single nucleotide variant | NM_002444.3(MSN):c.975T>C (p.Asn325=) | not provided [RCV003549560] | likely benign | X | 65736810 | 65736810 | Human | | name |
| 405196692 | CV2879379 | single nucleotide variant | NM_002444.3(MSN):c.588A>G (p.Gln196=) | not provided [RCV003550912] | likely benign | X | 65731874 | 65731874 | Human | | name |
| 402470845 | CV2904315 | single nucleotide variant | NM_002444.3(MSN):c.318G>C (p.Val106=) | not provided [RCV003570449] | likely benign | X | 65729563 | 65729563 | Human | | name |
| 405113333 | CV2939028 | single nucleotide variant | NM_002444.3(MSN):c.894T>C (p.Asp298=) | not provided [RCV003666519] | likely benign | X | 65735365 | 65735365 | Human | | name |
| 405119582 | CV3030691 | single nucleotide variant | NM_002444.3(MSN):c.783C>T (p.Asp261=) | not provided [RCV003700613] | likely benign | X | 65733268 | 65733268 | Human | | name |
| 405193551 | CV3066313 | single nucleotide variant | NM_002444.3(MSN):c.333C>G (p.Leu111=) | not provided [RCV003729952] | likely benign | X | 65729578 | 65729578 | Human | | name |
| 405162852 | CV3125148 | single nucleotide variant | NM_002444.3(MSN):c.834G>A (p.Lys278=) | not provided [RCV003818420] | benign | X | 65735305 | 65735305 | Human | | name |
| 405101440 | CV3148115 | single nucleotide variant | NM_002444.3(MSN):c.897C>T (p.Thr299=) | not provided [RCV003852745] | likely benign | X | 65735368 | 65735368 | Human | | name |
| 405252256 | CV3177869 | single nucleotide variant | NM_002444.3(MSN):c.462G>A (p.Pro154=) | not provided [RCV003870649] | likely benign | X | 65729707 | 65729707 | Human | | name |
| 597961502 | CV3753261 | single nucleotide variant | NM_002444.3(MSN):c.333C>T (p.Leu111=) | not provided [RCV005081761] | likely benign | X | 65729578 | 65729578 | Human | | name |
| 597912572 | CV3778613 | single nucleotide variant | NM_002444.3(MSN):c.705T>C (p.Thr235=) | not provided [RCV005128958] | likely benign | X | 65733190 | 65733190 | Human | | name |
| 597972774 | CV3790698 | single nucleotide variant | NM_002444.3(MSN):c.537C>T (p.His179=) | not provided [RCV005142913] | likely benign | X | 65731176 | 65731176 | Human | | name |
| 597964952 | CV3830650 | single nucleotide variant | NM_002444.3(MSN):c.969G>A (p.Leu323=) | not provided [RCV005164790] | likely benign | X | 65736804 | 65736804 | Human | | name |
| 597913111 | CV3834184 | single nucleotide variant | NM_002444.3(MSN):c.870A>G (p.Leu290=) | not provided [RCV005182946] | likely benign | X | 65735341 | 65735341 | Human | | name |
| 597949619 | CV3852991 | single nucleotide variant | NM_002444.3(MSN):c.489C>G (p.Leu163=) | not provided [RCV005189872] | likely benign | X | 65731128 | 65731128 | Human | | name |
| 14730466 | CV650143 | single nucleotide variant | NM_002444.3(MSN):c.50A>C (p.Glu17Ala) | not provided [RCV000800965] | uncertain significance | X | 65716855 | 65716855 | Human | | name |
| 127317255 | CV1159769 | single nucleotide variant | NM_002444.3(MSN):c.1146C>G (p.Ala382=) | not provided [RCV001520985] | benign | X | 65737233 | 65737233 | Human | | name |
| 127304522 | CV1159770 | single nucleotide variant | NM_002444.3(MSN):c.1203G>A (p.Glu401=) | not provided [RCV001515916] | benign | X | 65737290 | 65737290 | Human | | name |
| 127321346 | CV1159773 | single nucleotide variant | NM_002444.3(MSN):c.1581G>A (p.Ser527=) | not provided [RCV001523033] | benign | X | 65739740 | 65739740 | Human | | name |
| 152126041 | CV1532430 | single nucleotide variant | NM_002444.3(MSN):c.1674C>T (p.Thr558=) | not provided [RCV002118465] | likely benign | X | 65739833 | 65739833 | Human | | name |
| 152036343 | CV1545988 | single nucleotide variant | NM_002444.3(MSN):c.1671G>A (p.Lys557=) | not provided [RCV002165004] | benign | X | 65739830 | 65739830 | Human | | name |
| 152168669 | CV1548112 | single nucleotide variant | NM_002444.3(MSN):c.1716C>T (p.Asp572=) | not provided [RCV002161196] | likely benign | X | 65739875 | 65739875 | Human | | name |
| 152123513 | CV1563761 | single nucleotide variant | NM_002444.3(MSN):c.1095G>A (p.Leu365=) | not provided [RCV002175895] | likely benign | X | 65737182 | 65737182 | Human | | name |
| 152149680 | CV1616877 | single nucleotide variant | NM_002444.3(MSN):c.1539G>A (p.Glu513=) | not provided [RCV002201775] | likely benign | X | 65739164 | 65739164 | Human | | name |
| 152090483 | CV1624460 | single nucleotide variant | NM_002444.3(MSN):c.1617T>C (p.Thr539=) | not provided [RCV002150527] | benign | X | 65739776 | 65739776 | Human | | name |
| 152100777 | CV1645660 | single nucleotide variant | NM_002444.3(MSN):c.1680C>T (p.Arg560=) | not provided [RCV002173070] | likely benign | X | 65739839 | 65739839 | Human | | name |
| 152033596 | CV1669009 | single nucleotide variant | NM_002444.3(MSN):c.254A>G (p.Tyr85Cys) | Inborn genetic diseases [RCV004958484]|not provided [RCV002223352] | uncertain significance | X | 65729499 | 65729499 | Human | 1 | name |
| 155705765 | CV1775084 | single nucleotide variant | NM_002444.3(MSN):c.109A>G (p.Ile37Val) | not provided [RCV002300239] | uncertain significance | X | 65727826 | 65727826 | Human | | name |
| 156446415 | CV1937888 | single nucleotide variant | NM_002444.3(MSN):c.241C>T (p.Arg81Cys) | not provided [RCV003117919] | benign | X | 65729486 | 65729486 | Human | | name |
| 156069224 | CV1971718 | single nucleotide variant | NM_002444.3(MSN):c.1257G>A (p.Leu419=) | not provided [RCV002591222] | likely benign | X | 65738530 | 65738530 | Human | | name |
| 156126311 | CV2012424 | single nucleotide variant | NM_002444.3(MSN):c.1119G>A (p.Leu373=) | not provided [RCV002696234] | likely benign | X | 65737206 | 65737206 | Human | | name |
| 155936062 | CV2074842 | single nucleotide variant | NM_002444.3(MSN):c.1587G>A (p.Leu529=) | not provided [RCV002861444] | likely benign | X | 65739746 | 65739746 | Human | | name |
| 156124623 | CV2088274 | single nucleotide variant | NM_002444.3(MSN):c.1224G>A (p.Arg408=) | not provided [RCV002871400] | likely benign | X | 65737311 | 65737311 | Human | | name |
| 156167751 | CV2279869 | single nucleotide variant | NM_002444.3(MSN):c.122A>G (p.Glu41Gly) | Inborn genetic diseases [RCV002872925] | uncertain significance | X | 65727839 | 65727839 | Human | 1 | name |
| 401875002 | CV2781392 | single nucleotide variant | NM_002444.3(MSN):c.271G>A (p.Glu91Lys) | Inborn genetic diseases [RCV003362505] | uncertain significance | X | 65729516 | 65729516 | Human | 1 | name |
| 405086474 | CV2862220 | single nucleotide variant | NM_002444.3(MSN):c.1626C>T (p.Asp542=) | not provided [RCV003549600] | benign | X | 65739785 | 65739785 | Human | | name |
| 402502078 | CV2869262 | single nucleotide variant | NM_002444.3(MSN):c.1254C>T (p.Ala418=) | not provided [RCV003546013] | likely benign | X | 65738527 | 65738527 | Human | | name |
| 405146423 | CV2885317 | single nucleotide variant | NM_002444.3(MSN):c.242G>A (p.Arg81His) | Inborn genetic diseases [RCV004369177]|not provided [RCV003561374] | likely benign|uncertain significance | X | 65729487 | 65729487 | Human | 1 | name |
| 405138674 | CV2903560 | single nucleotide variant | NM_002444.3(MSN):c.116T>A (p.Leu39Ter) | not provided [RCV003560666] | uncertain significance | X | 65727833 | 65727833 | Human | | name |
| 405133134 | CV2959201 | single nucleotide variant | NM_002444.3(MSN):c.1062C>T (p.Ile354=) | not provided [RCV003668486] | likely benign | X | 65736897 | 65736897 | Human | | name |
| 405156556 | CV2960786 | single nucleotide variant | NM_002444.3(MSN):c.1479C>T (p.Asp493=) | not provided [RCV003670362] | likely benign | X | 65739104 | 65739104 | Human | | name |
| 405136942 | CV2963186 | single nucleotide variant | NM_002444.3(MSN):c.1191A>G (p.Glu397=) | not provided [RCV003668869] | likely benign | X | 65737278 | 65737278 | Human | | name |
| 405059195 | CV3019882 | single nucleotide variant | NM_002444.3(MSN):c.1245A>G (p.Glu415=) | not provided [RCV003697559] | likely benign | X | 65737332 | 65737332 | Human | | name |
| 405188567 | CV3156539 | single nucleotide variant | NM_002444.3(MSN):c.1545T>C (p.Asn515=) | not provided [RCV003859417] | likely benign | X | 65739170 | 65739170 | Human | | name |
| 402469330 | CV3174726 | single nucleotide variant | NM_002444.3(MSN):c.208G>T (p.Val70Leu) | not provided [RCV003873836] | benign | X | 65729453 | 65729453 | Human | | name |
| 405763314 | CV3365141 | single nucleotide variant | NM_002444.3(MSN):c.144G>C (p.Gln48His) | Inborn genetic diseases [RCV004500987] | uncertain significance | X | 65727861 | 65727861 | Human | 1 | name |
| 407459647 | CV3496857 | single nucleotide variant | NM_002444.3(MSN):c.139C>A (p.Leu47Met) | Autism [RCV004698672] | uncertain significance | X | 65727856 | 65727856 | Human | 2 | name |
| 597855404 | CV3747732 | single nucleotide variant | NM_002444.3(MSN):c.1416G>A (p.Val472=) | not provided [RCV005066743] | benign | X | 65739041 | 65739041 | Human | | name |
| 597925630 | CV3783193 | single nucleotide variant | NM_002444.3(MSN):c.236A>G (p.Lys79Arg) | not provided [RCV005115879] | uncertain significance | X | 65729481 | 65729481 | Human | | name |
| 597879565 | CV3826267 | single nucleotide variant | NM_002444.3(MSN):c.212G>A (p.Arg71Gln) | not provided [RCV005177963] | uncertain significance | X | 65729457 | 65729457 | Human | | name |
| 598214405 | CV3989743 | single nucleotide variant | NM_002444.3(MSN):c.205G>A (p.Asp69Asn) | Inborn genetic diseases [RCV005378560] | uncertain significance | X | 65729450 | 65729450 | Human | 1 | name |
| 15133869 | CV743438 | single nucleotide variant | NM_002444.3(MSN):c.1113G>A (p.Arg371=) | not provided [RCV000898197] | benign | X | 65737200 | 65737200 | Human | | name |
| 15166201 | CV758613 | single nucleotide variant | NM_002444.3(MSN):c.1407A>G (p.Thr469=) | not provided [RCV000926811] | benign | X | 65739032 | 65739032 | Human | | name |
| 151727804 | CV1242012 | deletion | NM_002444.3(MSN):c.1056del (p.Lys352fs) | Combined immunodeficiency due to moesin deficiency [RCV001844378] | pathogenic | X | 65736891 | 65736891 | Human | 1 | name |
| 151790606 | CV1389141 | single nucleotide variant | NM_002444.3(MSN):c.457C>T (p.Leu153Phe) | not provided [RCV002010664] | uncertain significance | X | 65729702 | 65729702 | Human | | name |
| 151875952 | CV1406071 | single nucleotide variant | NM_002444.3(MSN):c.880C>T (p.Arg294Cys) | not provided [RCV001981903] | uncertain significance | X | 65735351 | 65735351 | Human | | name |
| 151771518 | CV1417686 | single nucleotide variant | NM_002444.3(MSN):c.326G>A (p.Gly109Asp) | not provided [RCV001874496] | uncertain significance | X | 65729571 | 65729571 | Human | | name |
| 151769520 | CV1441963 | deletion | NM_002444.3(MSN):c.1114del (p.Ala372fs) | not provided [RCV002025217] | pathogenic|uncertain significance | X | 65737199 | 65737199 | Human | | name |
| 152071495 | CV1544320 | single nucleotide variant | NM_002444.3(MSN):c.802G>A (p.Val268Ile) | not provided [RCV002129673] | benign | X | 65735273 | 65735273 | Human | | name |
| 152049271 | CV1627688 | single nucleotide variant | NM_002444.3(MSN):c.445G>A (p.Gly149Arg) | Inborn genetic diseases [RCV005375054]|not provided [RCV002108739] | likely benign|uncertain significance | X | 65729690 | 65729690 | Human | 1 | name |
| 155714288 | CV1760335 | single nucleotide variant | NM_002444.3(MSN):c.679A>T (p.Ile227Phe) | not provided [RCV002300841] | uncertain significance | X | 65731965 | 65731965 | Human | | name |
| 155731105 | CV1776296 | single nucleotide variant | NM_002444.3(MSN):c.954G>A (p.Met318Ile) | not provided [RCV002301698] | uncertain significance | X | 65735425 | 65735425 | Human | | name |
| 156418807 | CV1918791 | single nucleotide variant | NM_002444.3(MSN):c.989G>A (p.Arg330His) | not provided [RCV002612016] | uncertain significance | X | 65736824 | 65736824 | Human | | name |
| 156442185 | CV1938097 | single nucleotide variant | NM_002444.3(MSN):c.299G>A (p.Arg100His) | not provided [RCV003112524] | benign | X | 65729544 | 65729544 | Human | | name |
| 156105662 | CV1953601 | single nucleotide variant | NM_002444.3(MSN):c.413A>G (p.Asn138Ser) | not provided [RCV002571010] | benign | X | 65729658 | 65729658 | Human | | name |
| 156211352 | CV1983402 | single nucleotide variant | NM_002444.3(MSN):c.406G>A (p.Asp136Asn) | not provided [RCV002626090] | likely benign | X | 65729651 | 65729651 | Human | | name |
| 156398017 | CV2009247 | single nucleotide variant | NM_002444.3(MSN):c.942C>A (p.His314Gln) | not provided [RCV002725758] | uncertain significance | X | 65735413 | 65735413 | Human | | name |
| 156233796 | CV2093946 | single nucleotide variant | NM_002444.3(MSN):c.586C>T (p.Gln196Ter) | not provided [RCV002894654] | pathogenic|uncertain significance | X | 65731872 | 65731872 | Human | | name |
| 156042717 | CV2117968 | single nucleotide variant | NM_002444.3(MSN):c.704C>G (p.Thr235Ser) | not provided [RCV002923977] | uncertain significance | X | 65733189 | 65733189 | Human | | name |
| 156014943 | CV2120478 | single nucleotide variant | NM_002444.3(MSN):c.486A>T (p.Lys162Asn) | not provided [RCV002975849] | uncertain significance | X | 65731125 | 65731125 | Human | | name |
| 156365214 | CV2130570 | single nucleotide variant | NM_002444.3(MSN):c.562G>A (p.Val188Ile) | not provided [RCV002967253] | uncertain significance | X | 65731848 | 65731848 | Human | | name |
| 156110036 | CV2177295 | single nucleotide variant | NM_002444.3(MSN):c.755A>G (p.Asp252Gly) | not provided [RCV003055055] | uncertain significance | X | 65733240 | 65733240 | Human | | name |
| 156361514 | CV2180405 | single nucleotide variant | NM_002444.3(MSN):c.461C>T (p.Pro154Leu) | not provided [RCV003049054] | uncertain significance | X | 65729706 | 65729706 | Human | | name |
| 156130050 | CV2238586 | single nucleotide variant | NM_002444.3(MSN):c.388G>A (p.Val130Ile) | Inborn genetic diseases [RCV002762876] | uncertain significance | X | 65729633 | 65729633 | Human | 1 | name |
| 156172986 | CV2326816 | single nucleotide variant | NM_002444.3(MSN):c.884G>A (p.Arg295His) | Inborn genetic diseases [RCV002929943]|not provided [RCV005099863] | uncertain significance | X | 65735355 | 65735355 | Human | 1 | name |
| 401860259 | CV2752108 | single nucleotide variant | NM_002444.3(MSN):c.877C>T (p.Arg293Cys) | Combined immunodeficiency due to moesin deficiency [RCV003335985]|not provided [RCV003661046] | uncertain significance | X | 65735348 | 65735348 | Human | 1 | name |
| 401927205 | CV2829155 | single nucleotide variant | NM_002444.3(MSN):c.922C>G (p.Gln308Glu) | not provided [RCV003438435] | uncertain significance | X | 65735393 | 65735393 | Human | | name |
| 405198693 | CV2876819 | single nucleotide variant | NM_002444.3(MSN):c.443C>T (p.Ala148Val) | not provided [RCV003551162] | likely benign | X | 65729688 | 65729688 | Human | | name |
| 405128005 | CV2893195 | single nucleotide variant | NM_002444.3(MSN):c.504G>A (p.Trp168Ter) | not provided [RCV003559763] | pathogenic|uncertain significance | X | 65731143 | 65731143 | Human | | name |
| 402480448 | CV2910946 | single nucleotide variant | NM_002444.3(MSN):c.495G>C (p.Lys165Asn) | not provided [RCV003572020] | uncertain significance | X | 65731134 | 65731134 | Human | | name |
| 405186049 | CV2921376 | single nucleotide variant | NM_002444.3(MSN):c.481C>T (p.His161Tyr) | not provided [RCV003564464] | uncertain significance | X | 65731120 | 65731120 | Human | | name |
| 405152307 | CV2959835 | single nucleotide variant | NM_002444.3(MSN):c.430T>A (p.Ser144Thr) | not provided [RCV003674042] | uncertain significance | X | 65729675 | 65729675 | Human | | name |
| 405124000 | CV2961573 | single nucleotide variant | NM_002444.3(MSN):c.689A>G (p.Gln230Arg) | not provided [RCV003667741] | uncertain significance | X | 65731975 | 65731975 | Human | | name |
| 405239163 | CV2997009 | single nucleotide variant | NM_002444.3(MSN):c.624C>G (p.Ile208Met) | not provided [RCV003718803] | uncertain significance | X | 65731910 | 65731910 | Human | | name |
| 405079064 | CV3004402 | single nucleotide variant | NM_002444.3(MSN):c.874A>T (p.Met292Leu) | not provided [RCV003716915] | uncertain significance | X | 65735345 | 65735345 | Human | | name |
| 405225222 | CV3035970 | single nucleotide variant | NM_002444.3(MSN):c.453G>C (p.Lys151Asn) | not provided [RCV003710453] | uncertain significance | X | 65729698 | 65729698 | Human | | name |
| 405120011 | CV3131392 | single nucleotide variant | NM_002444.3(MSN):c.539G>A (p.Arg180His) | not provided [RCV003837256] | uncertain significance | X | 65731178 | 65731178 | Human | | name |
| 408383957 | CV3505919 | single nucleotide variant | NM_002444.3(MSN):c.385G>T (p.Ala129Ser) | MSN-related disorder [RCV004731339] | uncertain significance | X | 65729630 | 65729630 | Human | | name , trait , alternate_id |
| 597663672 | CV3554645 | single nucleotide variant | NM_002444.3(MSN):c.964A>G (p.Met322Val) | Inborn genetic diseases [RCV004947174] | uncertain significance | X | 65736799 | 65736799 | Human | 1 | name |
| 12741477 | CV359059 | single nucleotide variant | NM_002444.3(MSN):c.511C>T (p.Arg171Trp) | Combined immunodeficiency due to moesin deficiency [RCV000412603]|not provided [RCV001092797] | pathogenic | X | 65731150 | 65731150 | Human | 1 | name |
| 597879901 | CV3744732 | single nucleotide variant | NM_002444.3(MSN):c.845C>T (p.Ala282Val) | not provided [RCV005069757] | uncertain significance | X | 65735316 | 65735316 | Human | | name |
| 597836203 | CV3757644 | single nucleotide variant | NM_002444.3(MSN):c.430T>C (p.Ser144Pro) | not provided [RCV005085658] | uncertain significance | X | 65729675 | 65729675 | Human | | name |
| 597920413 | CV3765116 | duplication | NM_002444.3(MSN):c.1471dup (p.Ser491fs) | not provided [RCV005115133] | pathogenic | X | 65739095 | 65739096 | Human | | name |
| 597973595 | CV3801471 | single nucleotide variant | NM_002444.3(MSN):c.886A>C (p.Lys296Gln) | not provided [RCV005143460] | uncertain significance | X | 65735357 | 65735357 | Human | | name |
| 597936449 | CV3807646 | single nucleotide variant | NM_002444.3(MSN):c.814C>T (p.Pro272Ser) | not provided [RCV005158025] | uncertain significance | X | 65735285 | 65735285 | Human | | name |
| 598214402 | CV3989740 | single nucleotide variant | NM_002444.3(MSN):c.853A>G (p.Met285Val) | Inborn genetic diseases [RCV005378559] | uncertain significance | X | 65735324 | 65735324 | Human | 1 | name |
| 598180342 | CV3989742 | single nucleotide variant | NM_002444.3(MSN):c.958C>T (p.Arg320Cys) | Inborn genetic diseases [RCV005372104] | uncertain significance | X | 65735429 | 65735429 | Human | 1 | name |
| 40815382 | CV971225 | single nucleotide variant | NM_002444.3(MSN):c.817C>T (p.Arg273Trp) | Combined immunodeficiency due to moesin deficiency [RCV001262725] | uncertain significance | X | 65735288 | 65735288 | Human | 1 | name |
| 150545791 | CV1297600 | single nucleotide variant | NM_002444.3(MSN):c.1331A>G (p.Glu444Gly) | not provided [RCV001763188] | uncertain significance | X | 65738604 | 65738604 | Human | | name |
| 150554039 | CV1298452 | single nucleotide variant | NM_002444.3(MSN):c.1030A>T (p.Lys344Ter) | not provided [RCV001770651] | uncertain significance | X | 65736865 | 65736865 | Human | | name |
| 151826164 | CV1392227 | single nucleotide variant | NM_002444.3(MSN):c.1678C>T (p.Arg560Cys) | not provided [RCV001879675] | uncertain significance | X | 65739837 | 65739837 | Human | | name |
| 151825463 | CV1393731 | single nucleotide variant | NM_002444.3(MSN):c.1193A>G (p.Glu398Gly) | not provided [RCV002030298] | uncertain significance | X | 65737280 | 65737280 | Human | | name |
| 151720895 | CV1420930 | single nucleotide variant | NM_002444.3(MSN):c.1339C>A (p.Gln447Lys) | not provided [RCV002040063] | uncertain significance | X | 65738612 | 65738612 | Human | | name |
| 151795558 | CV1449020 | single nucleotide variant | NM_002444.3(MSN):c.1301C>T (p.Ala434Val) | not provided [RCV001990473] | uncertain significance | X | 65738574 | 65738574 | Human | | name |
| 151769096 | CV1450912 | single nucleotide variant | NM_002444.3(MSN):c.1304G>C (p.Arg435Pro) | not provided [RCV001929342] | uncertain significance | X | 65738577 | 65738577 | Human | | name |
| 151877480 | CV1460196 | single nucleotide variant | NM_002444.3(MSN):c.1142G>A (p.Arg381His) | not provided [RCV002036434] | uncertain significance | X | 65737229 | 65737229 | Human | | name |
| 151779602 | CV1472421 | single nucleotide variant | NM_002444.3(MSN):c.1304G>A (p.Arg435Gln) | not provided [RCV002026133] | uncertain significance | X | 65738577 | 65738577 | Human | | name |
| 151835764 | CV1472724 | single nucleotide variant | NM_002444.3(MSN):c.1636G>T (p.Ala546Ser) | not provided [RCV002051185] | uncertain significance | X | 65739795 | 65739795 | Human | | name |
| 152095341 | CV1561931 | single nucleotide variant | NM_002444.3(MSN):c.1108C>T (p.Arg370Cys) | not provided [RCV002194843] | likely benign | X | 65737195 | 65737195 | Human | | name |
| 152090425 | CV1624417 | single nucleotide variant | NM_002444.3(MSN):c.1222C>T (p.Arg408Trp) | not provided [RCV002150520]|not specified [RCV002271723] | likely benign|uncertain significance | X | 65737309 | 65737309 | Human | | name |
| 155676922 | CV1771811 | single nucleotide variant | NM_002444.3(MSN):c.1349A>G (p.Gln450Arg) | not provided [RCV002297835] | uncertain significance | X | 65738974 | 65738974 | Human | | name |
| 156413168 | CV1887716 | single nucleotide variant | NM_002444.3(MSN):c.1135C>T (p.Arg379Trp) | not provided [RCV003073185] | benign | X | 65737222 | 65737222 | Human | | name |
| 156361450 | CV1900558 | single nucleotide variant | NM_002444.3(MSN):c.1063G>A (p.Glu355Lys) | not provided [RCV002581754] | likely benign | X | 65736898 | 65736898 | Human | | name |
| 156443841 | CV1941111 | single nucleotide variant | NM_002444.3(MSN):c.1038G>C (p.Glu346Asp) | not provided [RCV003114750] | uncertain significance | X | 65736873 | 65736873 | Human | | name |
| 156406084 | CV2004593 | single nucleotide variant | NM_002444.3(MSN):c.1378C>T (p.Arg460Cys) | not provided [RCV002658467] | uncertain significance | X | 65739003 | 65739003 | Human | | name |
| 156190561 | CV2066363 | single nucleotide variant | NM_002444.3(MSN):c.1619C>T (p.Ala540Val) | not provided [RCV002828595] | uncertain significance | X | 65739778 | 65739778 | Human | | name |
| 155926037 | CV2070829 | single nucleotide variant | NM_002444.3(MSN):c.1577C>T (p.Thr526Ile) | not provided [RCV002838533] | uncertain significance | X | 65739736 | 65739736 | Human | | name |
| 156034978 | CV2112740 | single nucleotide variant | NM_002444.3(MSN):c.1280G>A (p.Arg427Gln) | not provided [RCV002910229] | benign | X | 65738553 | 65738553 | Human | | name |
| 156332813 | CV2112838 | single nucleotide variant | NM_002444.3(MSN):c.1106C>G (p.Thr369Ser) | Inborn genetic diseases [RCV005375203]|MSN-related disorder [RCV004756440]|not provided [RCV002938463] | uncertain significance | X | 65737193 | 65737193 | Human | 2 | name , trait , alternate_id |
| 156333938 | CV2112947 | single nucleotide variant | NM_002444.3(MSN):c.1539G>T (p.Glu513Asp) | not provided [RCV002938521] | uncertain significance | X | 65739164 | 65739164 | Human | | name |
| 156030243 | CV2117323 | single nucleotide variant | NM_002444.3(MSN):c.1112G>A (p.Arg371Lys) | not provided [RCV002923482] | uncertain significance | X | 65737199 | 65737199 | Human | | name |
| 156247337 | CV2168710 | single nucleotide variant | NM_002444.3(MSN):c.1303C>T (p.Arg435Ter) | not provided [RCV003026220] | pathogenic|uncertain significance | X | 65738576 | 65738576 | Human | | name |
| 155918125 | CV2236744 | single nucleotide variant | NM_002444.3(MSN):c.1570G>A (p.Ala524Thr) | Inborn genetic diseases [RCV002772598]|not provided [RCV005059263] | benign|uncertain significance | X | 65739729 | 65739729 | Human | 1 | name |
| 156021014 | CV2264417 | single nucleotide variant | NM_002444.3(MSN):c.1351A>G (p.Met451Val) | Inborn genetic diseases [RCV002844609] | uncertain significance | X | 65738976 | 65738976 | Human | 1 | name |
| 243056394 | CV2410370 | single nucleotide variant | NM_002444.3(MSN):c.1099G>A (p.Glu367Lys) | Combined immunodeficiency due to moesin deficiency [RCV003132688]|MSN-related disorder [RCV003420569] | uncertain significance | X | 65737186 | 65737186 | Human | 1 | name , trait , alternate_id |
| 401764022 | CV2700347 | single nucleotide variant | NM_002444.3(MSN):c.1508G>A (p.Arg503His) | Inborn genetic diseases [RCV003281716] | uncertain significance | X | 65739133 | 65739133 | Human | 1 | name |
| 401728930 | CV2729910 | single nucleotide variant | NM_002444.3(MSN):c.1552G>C (p.Val518Leu) | Inborn genetic diseases [RCV003288760]|not provided [RCV003738428] | benign|uncertain significance | X | 65739177 | 65739177 | Human | 1 | name |
| 401913180 | CV2830242 | single nucleotide variant | NM_002444.3(MSN):c.1439A>C (p.Gln480Pro) | not provided [RCV003441457] | uncertain significance | X | 65739064 | 65739064 | Human | | name |
| 405866940 | CV2842456 | single nucleotide variant | NM_002444.3(MSN):c.1603G>T (p.Glu535Ter) | EBV-positive nodal T- and NK-cell lymphoma [RCV004557813] | likely benign | X | 65739762 | 65739762 | Human | | name |
| 402518198 | CV2856994 | single nucleotide variant | NM_002444.3(MSN):c.1229A>C (p.Gln410Pro) | not provided [RCV003575650] | uncertain significance | X | 65737316 | 65737316 | Human | | name |
| 405166932 | CV2857652 | single nucleotide variant | NM_002444.3(MSN):c.1090G>A (p.Glu364Lys) | not provided [RCV003541862] | uncertain significance | X | 65736925 | 65736925 | Human | | name |
| 405074071 | CV2940612 | single nucleotide variant | NM_002444.3(MSN):c.1262T>C (p.Met421Thr) | not provided [RCV003659594] | uncertain significance | X | 65738535 | 65738535 | Human | | name |
| 405081661 | CV2941886 | single nucleotide variant | NM_002444.3(MSN):c.1340A>G (p.Gln447Arg) | not provided [RCV003664662] | uncertain significance | X | 65738613 | 65738613 | Human | | name |
| 405216402 | CV2978049 | single nucleotide variant | NM_002444.3(MSN):c.1064A>G (p.Glu355Gly) | not provided [RCV003709376] | uncertain significance | X | 65736899 | 65736899 | Human | | name |
| 405254885 | CV2982307 | single nucleotide variant | NM_002444.3(MSN):c.1507C>T (p.Arg503Cys) | not provided [RCV003723214] | uncertain significance | X | 65739132 | 65739132 | Human | | name |
| 405235284 | CV3040845 | single nucleotide variant | NM_002444.3(MSN):c.1592A>G (p.Asn531Ser) | not provided [RCV003712238] | uncertain significance | X | 65739751 | 65739751 | Human | | name |
| 405204837 | CV3068024 | single nucleotide variant | NM_002444.3(MSN):c.1181A>G (p.Gln394Arg) | not provided [RCV003731201] | benign | X | 65737268 | 65737268 | Human | | name |
| 405210872 | CV3117728 | single nucleotide variant | NM_002444.3(MSN):c.1311G>T (p.Lys437Asn) | not provided [RCV003823327] | uncertain significance | X | 65738584 | 65738584 | Human | | name |
| 405197753 | CV3132084 | single nucleotide variant | NM_002444.3(MSN):c.1592A>T (p.Asn531Ile) | not provided [RCV003821677] | uncertain significance | X | 65739751 | 65739751 | Human | | name |
| 405108329 | CV3136600 | single nucleotide variant | NM_002444.3(MSN):c.1039C>G (p.Leu347Val) | not provided [RCV003835754] | uncertain significance | X | 65736874 | 65736874 | Human | | name |
| 405101452 | CV3148127 | single nucleotide variant | NM_002444.3(MSN):c.1223G>A (p.Arg408Gln) | not provided [RCV003852757] | uncertain significance | X | 65737310 | 65737310 | Human | | name |
| 405763234 | CV3365128 | single nucleotide variant | NM_002444.3(MSN):c.1168G>T (p.Ala390Ser) | Inborn genetic diseases [RCV004500974] | uncertain significance | X | 65737255 | 65737255 | Human | 1 | name |
| 407475728 | CV3447283 | single nucleotide variant | NM_002444.3(MSN):c.1178G>A (p.Arg393His) | Inborn genetic diseases [RCV004638418] | uncertain significance | X | 65737265 | 65737265 | Human | 1 | name |
| 407506982 | CV3447284 | single nucleotide variant | NM_002444.3(MSN):c.1645A>G (p.Met549Val) | Inborn genetic diseases [RCV004646633] | uncertain significance | X | 65739804 | 65739804 | Human | 1 | name |
| 597701014 | CV3554644 | single nucleotide variant | NM_002444.3(MSN):c.1019T>C (p.Ile340Thr) | Inborn genetic diseases [RCV004956633]|not provided [RCV005061482] | uncertain significance | X | 65736854 | 65736854 | Human | 1 | name |
| 12741474 | CV359060 | single nucleotide variant | NM_002444.3(MSN):c.1657C>T (p.Arg553Ter) | Combined immunodeficiency due to moesin deficiency [RCV000412497] | pathogenic | X | 65739816 | 65739816 | Human | 1 | name |
| 597852464 | CV3743399 | single nucleotide variant | NM_002444.3(MSN):c.1484G>A (p.Arg495Gln) | not provided [RCV005060749] | uncertain significance | X | 65739109 | 65739109 | Human | | name |
| 597972847 | CV3790753 | single nucleotide variant | NM_002444.3(MSN):c.1522C>T (p.Arg508Cys) | not provided [RCV005142968] | uncertain significance | X | 65739147 | 65739147 | Human | | name |
| 597969667 | CV3791640 | single nucleotide variant | NM_002444.3(MSN):c.1325C>T (p.Ala442Val) | not provided [RCV005141457] | uncertain significance | X | 65738598 | 65738598 | Human | | name |
| 597904030 | CV3856291 | single nucleotide variant | NM_002444.3(MSN):c.1580C>T (p.Ser527Leu) | not provided [RCV005202519] | uncertain significance | X | 65739739 | 65739739 | Human | | name |
| 598214399 | CV3989739 | single nucleotide variant | NM_002444.3(MSN):c.1082C>T (p.Ala361Val) | Inborn genetic diseases [RCV005378558] | uncertain significance | X | 65736917 | 65736917 | Human | 1 | name |
| 14699488 | CV624724 | single nucleotide variant | NM_002444.3(MSN):c.1580C>A (p.Ser527Ter) | not provided [RCV000788875] | likely pathogenic | X | 65739739 | 65739739 | Human | | name |
| 21073735 | CV792487 | single nucleotide variant | NM_002444.3(MSN):c.1601A>C (p.Asp534Ala) | Combined immunodeficiency due to moesin deficiency [RCV000990848] | likely pathogenic | X | 65739760 | 65739760 | Human | 1 | name |
| 402468033 | CV2921129 | duplication | NM_002444.3(MSN):c.585_586dup (p.Gln196fs) | not provided [RCV003569809] | pathogenic|uncertain significance | X | 65731869 | 65731870 | Human | | name |
| 156118257 | CV2086700 | duplication | NM_002444.3(MSN):c.1174_1183dup (p.Glu395fs) | not provided [RCV002871160] | pathogenic|uncertain significance | X | 65737256 | 65737257 | Human | | name |
| 407504986 | CV3495984 | deletion | NM_002444.3(MSN):c.1638_1648del (p.Glu547fs) | not provided [RCV004697824] | likely pathogenic | X | 65739792 | 65739802 | Human | | name |
| 405207012 | CV3064451 | microsatellite | NM_002444.3(MSN):c.1438CAGGATGAG[1] (p.480QDE[1]) | not provided [RCV003731439] | uncertain significance | X | 65739058 | 65739066 | Human | | name |
| 405219118 | CV2903845 | deletion | NM_002444.3(MSN):c.1177_1203del (p.Arg393_Glu401del) | not provided [RCV003568142] | uncertain significance | X | 65737254 | 65737280 | Human | | name |