NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000006493] |
Chr6:39912289 [GRCh38] Chr6:39880033 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000006495] |
Chr6:39927362 [GRCh38] Chr6:39895101 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.722del (p.Leu241fs) |
deletion |
Molybdenum cofactor deficiency, complementation group A [RCV000006491] |
Chr6:39913352 [GRCh38] Chr6:39881096 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) |
microsatellite |
Molybdenum cofactor deficiency, complementation group A [RCV000006492] |
Chr6:39906759..39906760 [GRCh38] Chr6:39874535..39874536 [GRCh37] Chr6:6p21.2 |
pathogenic|likely pathogenic |
NM_001358530.2(MOCS1):c.418+1G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000006494]|not provided [RCV000732511] |
Chr6:39925677 [GRCh38] Chr6:39893421 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001075098.3(MOCS1):c.267C>T (p.Pro89=) |
single nucleotide variant |
Lung cancer [RCV000096858] |
Chr6:39925829 [GRCh38] Chr6:39893573 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 |
copy number loss |
See cases [RCV000052181] |
Chr6:37777369..45653843 [GRCh38] Chr6:37745145..45621580 [GRCh37] Chr6:37853123..45729558 [NCBI36] Chr6:6p21.2-21.1 |
pathogenic |
GRCh38/hg38 6p21.2(chr6:39127448-40287232)x3 |
copy number gain |
See cases [RCV000134152] |
Chr6:39127448..40287232 [GRCh38] Chr6:39095224..40254971 [GRCh37] Chr6:39203202..40362949 [NCBI36] Chr6:6p21.2 |
likely benign|uncertain significance |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 |
copy number gain |
See cases [RCV000143497] |
Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
NM_001358530.2(MOCS1):c.1102+1G>A |
single nucleotide variant |
not provided [RCV000254772] |
Chr6:39909834 [GRCh38] Chr6:39877578 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000642135] |
Chr6:39925766 [GRCh38] Chr6:39893510 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000265070] |
Chr6:39906553 [GRCh38] Chr6:39874329 [GRCh37] Chr6:6p21.2 |
benign|uncertain significance |
NM_001358530.2(MOCS1):c.*1348_*1351dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000262425] |
Chr6:39905005..39905006 [GRCh38] Chr6:39872781..39872782 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) |
single nucleotide variant |
Intellectual disability [RCV001252317]|Molybdenum cofactor deficiency, complementation group A [RCV000714706]|not provided [RCV000415797] |
Chr6:39912909 [GRCh38] Chr6:39880653 [GRCh37] Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000273845] |
Chr6:39916225 [GRCh38] Chr6:39883969 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1424C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000275416] |
Chr6:39904933 [GRCh38] Chr6:39872709 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000276680] |
Chr6:39906952 [GRCh38] Chr6:39874728 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*734C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000266582] |
Chr6:39905623 [GRCh38] Chr6:39873399 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*987C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000313809] |
Chr6:39905370 [GRCh38] Chr6:39873146 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1002C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000344116] |
Chr6:39905355 [GRCh38] Chr6:39873131 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*908_*911AATC[5] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000368461] |
Chr6:39905433..39905434 [GRCh38] Chr6:39873209..39873210 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000394970] |
Chr6:39906468 [GRCh38] Chr6:39874244 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*664T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000321743] |
Chr6:39905693 [GRCh38] Chr6:39873469 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*824C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000300405] |
Chr6:39905533 [GRCh38] Chr6:39873309 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*2A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000335215] |
Chr6:39906355 [GRCh38] Chr6:39874131 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*908_*911AATC[3] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000399915] |
Chr6:39905434..39905437 [GRCh38] Chr6:39873210..39873213 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.152G>T (p.Arg51Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000285478] |
Chr6:39927427 [GRCh38] Chr6:39895166 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000270901] |
Chr6:39906855 [GRCh38] Chr6:39874631 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000373399] |
Chr6:39909909 [GRCh38] Chr6:39877653 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.358G>C (p.Asp120His) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000373743] |
Chr6:39925738 [GRCh38] Chr6:39893482 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[3] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000337835] |
Chr6:39904689..39904690 [GRCh38] Chr6:39872465..39872466 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.175G>T (p.Ala59Ser) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000379955] |
Chr6:39927404 [GRCh38] Chr6:39895143 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1367A>T (p.Asp456Val) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000325932] |
Chr6:39906901 [GRCh38] Chr6:39874677 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*523_*527TCCTG[4] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000326910] |
Chr6:39905819..39905820 [GRCh38] Chr6:39873595..39873596 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*1136A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000286898] |
Chr6:39905221 [GRCh38] Chr6:39872997 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.421C>G (p.Gln141Glu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000319610] |
Chr6:39916230 [GRCh38] Chr6:39883974 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.758-9C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000403837]|not provided [RCV000902879] |
Chr6:39913013 [GRCh38] Chr6:39880757 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.*1003G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000288956] |
Chr6:39905354 [GRCh38] Chr6:39873130 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000304951] |
Chr6:39906480 [GRCh38] Chr6:39874256 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1893G>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000339829] |
Chr6:39904464 [GRCh38] Chr6:39872240 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000339680] |
Chr6:39913358 [GRCh38] Chr6:39881102 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*578C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000290491] |
Chr6:39905779 [GRCh38] Chr6:39873555 [GRCh37] Chr6:6p21.2 |
benign|uncertain significance |
NM_001358530.2(MOCS1):c.645+9G>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000960562] |
Chr6:39913765 [GRCh38] Chr6:39881509 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1405G>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000330404] |
Chr6:39904952 [GRCh38] Chr6:39872728 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1113T>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000377926] |
Chr6:39905244 [GRCh38] Chr6:39873020 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.124-216A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000321815] |
Chr6:39927671 [GRCh38] Chr6:39895410 [GRCh37] Chr6:6p21.2 |
benign |
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) |
single nucleotide variant |
Combined molybdoflavoprotein enzyme deficiency [RCV000309763] |
Chr6:39906581 [GRCh38] Chr6:39874357 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1445C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000401397] |
Chr6:39904912 [GRCh38] Chr6:39872688 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1909A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000291928] |
Chr6:39904448 [GRCh38] Chr6:39872224 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.583+10T>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000362426] |
Chr6:39916058 [GRCh38] Chr6:39883802 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000386186] |
Chr6:39907056 [GRCh38] Chr6:39874832 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*477C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000381477] |
Chr6:39905880 [GRCh38] Chr6:39873656 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*378G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000292889] |
Chr6:39905979 [GRCh38] Chr6:39873755 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1857G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000343518] |
Chr6:39904500 [GRCh38] Chr6:39872276 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*400C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000387097] |
Chr6:39905957 [GRCh38] Chr6:39873733 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1928C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000384005] |
Chr6:39904429 [GRCh38] Chr6:39872205 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.583+6C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000277247] |
Chr6:39916062 [GRCh38] Chr6:39883806 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000313707]|not provided [RCV000998595] |
Chr6:39916131 [GRCh38] Chr6:39883875 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1942C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000326774] |
Chr6:39904415 [GRCh38] Chr6:39872191 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.981+12C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000278880] |
Chr6:39912252 [GRCh38] Chr6:39879996 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000337333] |
Chr6:39907099 [GRCh38] Chr6:39874875 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000359757] |
Chr6:39906516 [GRCh38] Chr6:39874292 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000955358] |
Chr6:39916132 [GRCh38] Chr6:39883876 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.*1628C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000369242] |
Chr6:39904729 [GRCh38] Chr6:39872505 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*762G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000316000] |
Chr6:39905595 [GRCh38] Chr6:39873371 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.264G>A (p.Met88Ile) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000316093]|not provided [RCV000498654] |
Chr6:39925832 [GRCh38] Chr6:39893576 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*327G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000338777] |
Chr6:39906030 [GRCh38] Chr6:39873806 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.*451C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000296249] |
Chr6:39905906 [GRCh38] Chr6:39873682 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1433T>A |
single nucleotide variant |
Combined molybdoflavoprotein enzyme deficiency [RCV000370028] |
Chr6:39904924 [GRCh38] Chr6:39872700 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000393365] |
Chr6:39913376 [GRCh38] Chr6:39881120 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1660_*1663ATAG[1] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000393392] |
Chr6:39904690..39904693 [GRCh38] Chr6:39872466..39872469 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000389781] |
Chr6:39906913 [GRCh38] Chr6:39874689 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1629G>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000312167] |
Chr6:39904728 [GRCh38] Chr6:39872504 [GRCh37] Chr6:6p21.2 |
benign |
NM_001358530.2(MOCS1):c.*135T>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000394976] |
Chr6:39906222 [GRCh38] Chr6:39873998 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*84A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000298920] |
Chr6:39906273 [GRCh38] Chr6:39874049 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1334A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000317583] |
Chr6:39905023 [GRCh38] Chr6:39872799 [GRCh37] Chr6:6p21.2 |
benign|likely benign |
NM_001358530.2(MOCS1):c.*1305C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000372038] |
Chr6:39905052 [GRCh38] Chr6:39872828 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*990T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000395842] |
Chr6:39905367 [GRCh38] Chr6:39873143 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000282363] |
Chr6:39907057 [GRCh38] Chr6:39874833 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1067A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000283137] |
Chr6:39905290 [GRCh38] Chr6:39873066 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*759_*761dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000260813] |
Chr6:39905595..39905596 [GRCh38] Chr6:39873371..39873372 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1866_*1870dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000286216] |
Chr6:39904486..39904487 [GRCh38] Chr6:39872262..39872263 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.604_624del (p.Gly202_Glu208del) |
deletion |
not provided [RCV000352080] |
Chr6:39913795..39913815 [GRCh38] Chr6:39881539..39881559 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.*1389dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000357230] |
Chr6:39904967..39904968 [GRCh38] Chr6:39872743..39872744 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*1775_*1778dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000393387] |
Chr6:39904578..39904579 [GRCh38] Chr6:39872354..39872355 [GRCh37] Chr6:6p21.2 |
benign |
NM_001358530.2(MOCS1):c.*1711G>A |
single nucleotide variant |
Combined molybdoflavoprotein enzyme deficiency [RCV000280319] |
Chr6:39904646 [GRCh38] Chr6:39872422 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*739C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000361302] |
Chr6:39905618 [GRCh38] Chr6:39873394 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.729G>A (p.Val243=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000303508] |
Chr6:39913345 [GRCh38] Chr6:39881089 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1436C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000315342] |
Chr6:39904921 [GRCh38] Chr6:39872697 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1282A>G (p.Arg428Gly) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000331664] |
Chr6:39906986 [GRCh38] Chr6:39874762 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1628C>A (p.Ala543Glu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000364460] |
Chr6:39906640 [GRCh38] Chr6:39874416 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1062_*1063dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000347441] |
Chr6:39905293..39905294 [GRCh38] Chr6:39873069..39873070 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*638C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000384934] |
Chr6:39905719 [GRCh38] Chr6:39873495 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1063T>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000405167] |
Chr6:39905294 [GRCh38] Chr6:39873070 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*423C>A |
single nucleotide variant |
Combined molybdoflavoprotein enzyme deficiency [RCV000351174] |
Chr6:39905934 [GRCh38] Chr6:39873710 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1117A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000323221] |
Chr6:39905240 [GRCh38] Chr6:39873016 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*771_*772dup |
duplication |
Combined molybdoflavoprotein enzyme deficiency [RCV000355279] |
Chr6:39905584..39905585 [GRCh38] Chr6:39873360..39873361 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1878G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000378094] |
Chr6:39904479 [GRCh38] Chr6:39872255 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1A>C (p.Met1Leu) |
single nucleotide variant |
not provided [RCV000522037] |
Chr6:39934417 [GRCh38] Chr6:39902156 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.124-69G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000605979]|not provided [RCV000415763] |
Chr6:39927524 [GRCh38] Chr6:39895263 [GRCh37] Chr6:6p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) |
single nucleotide variant |
Intellectual disability [RCV001252080]|Molybdenum cofactor deficiency, complementation group A [RCV000987692]|not provided [RCV000416188] |
Chr6:39909922 [GRCh38] Chr6:39877666 [GRCh37] Chr6:6p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 |
copy number gain |
See cases [RCV000512067] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) |
copy number gain |
See cases [RCV000510595] |
Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000642134] |
Chr6:39909873 [GRCh38] Chr6:39877617 [GRCh37] Chr6:6p21.2 |
uncertain significance |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) |
copy number gain |
not provided [RCV000767714] |
Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155455]|not provided [RCV000642136] |
Chr6:39927417 [GRCh38] Chr6:39895156 [GRCh37] Chr6:6p21.2 |
likely benign|uncertain significance |
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000642133] |
Chr6:39909055 [GRCh38] Chr6:39876831 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.717C>A (p.Leu239=) |
single nucleotide variant |
not provided [RCV000642137] |
Chr6:39913357 [GRCh38] Chr6:39881101 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000701777] |
Chr6:39927423 [GRCh38] Chr6:39895162 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1126A>T (p.Lys376Ter) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000721979] |
Chr6:39909079 [GRCh38] Chr6:39876855 [GRCh37] Chr6:6p21.2 |
likely pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 |
copy number gain |
not provided [RCV000745400] |
Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 |
copy number gain |
not provided [RCV000745404] |
Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 |
copy number gain |
not provided [RCV000745403] |
Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_001358530.2(MOCS1):c.1150+20G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000853363] |
Chr6:39909035 [GRCh38] Chr6:39876811 [GRCh37] Chr6:6p21.2 |
likely pathogenic |
NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
not provided [RCV000762410] |
Chr6:39927379 [GRCh38] Chr6:39895118 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001040457] |
Chr6:39913355 [GRCh38] Chr6:39881099 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) |
duplication |
Molybdenum cofactor deficiency, complementation group A [RCV001039635] |
Chr6:39909936..39909937 [GRCh38] Chr6:39877680..39877681 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.1106T>A (p.Met369Lys) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001060714] |
Chr6:39909099 [GRCh38] Chr6:39876875 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1102+1_1102+2del |
deletion |
Molybdenum cofactor deficiency, complementation group A [RCV000779503] |
Chr6:39909833..39909834 [GRCh38] Chr6:39877577..39877578 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.644A>G (p.Lys215Arg) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000818502] |
Chr6:39913775 [GRCh38] Chr6:39881519 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000798315] |
Chr6:39909921 [GRCh38] Chr6:39877665 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000794922] |
Chr6:39912948 [GRCh38] Chr6:39880692 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*756A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151386] |
Chr6:39905601 [GRCh38] Chr6:39873377 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154614]|not provided [RCV000998597] |
Chr6:39925702 [GRCh38] Chr6:39893446 [GRCh37] Chr6:6p21.2 |
likely pathogenic|uncertain significance |
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000987691] |
Chr6:39906800 [GRCh38] Chr6:39874576 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001235403] |
Chr6:39916107 [GRCh38] Chr6:39883851 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.616G>A (p.Ala206Thr) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001211282] |
Chr6:39913803 [GRCh38] Chr6:39881547 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.377G>A (p.Gly126Asp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV000853356] |
Chr6:39925719 [GRCh38] Chr6:39893463 [GRCh37] Chr6:6p21.2 |
likely pathogenic |
GRCh37/hg19 6p21.2(chr6:39895018-39942774)x4 |
copy number gain |
not provided [RCV000846789] |
Chr6:39895018..39942774 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1752C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154320] |
Chr6:39904605 [GRCh38] Chr6:39872381 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1502A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154322] |
Chr6:39904855 [GRCh38] Chr6:39872631 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*523T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154414] |
Chr6:39905834 [GRCh38] Chr6:39873610 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154513] |
Chr6:39909073 [GRCh38] Chr6:39876849 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154615] |
Chr6:39925757 [GRCh38] Chr6:39893501 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1832G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151252] |
Chr6:39904525 [GRCh38] Chr6:39872301 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151489] |
Chr6:39906600 [GRCh38] Chr6:39874376 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001244655] |
Chr6:39934341 [GRCh38] Chr6:39902080 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*659A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154412] |
Chr6:39905698 [GRCh38] Chr6:39873474 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1315C>T (p.Arg439Trp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154511] |
Chr6:39906953 [GRCh38] Chr6:39874729 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001233968] |
Chr6:39925698 [GRCh38] Chr6:39893442 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.439G>A (p.Gly147Arg) |
single nucleotide variant |
not provided [RCV000998596] |
Chr6:39916212 [GRCh38] Chr6:39883956 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.774C>T (p.Phe258=) |
single nucleotide variant |
not provided [RCV000936031] |
Chr6:39912988 [GRCh38] Chr6:39880732 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*1954G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001156701] |
Chr6:39904403 [GRCh38] Chr6:39872179 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1307A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155154] |
Chr6:39905050 [GRCh38] Chr6:39872826 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*282T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155250] |
Chr6:39906075 [GRCh38] Chr6:39873851 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*142C>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155251] |
Chr6:39906215 [GRCh38] Chr6:39873991 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*76T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001156916] |
Chr6:39906281 [GRCh38] Chr6:39874057 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.583+12T>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001157020] |
Chr6:39916056 [GRCh38] Chr6:39883800 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001157019] |
Chr6:39913367 [GRCh38] Chr6:39881111 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1046A>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001156811] |
Chr6:39905311 [GRCh38] Chr6:39873087 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1098T>G (p.His366Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154514] |
Chr6:39909839 [GRCh38] Chr6:39877583 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1835T>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151251] |
Chr6:39904522 [GRCh38] Chr6:39872298 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*826A>C |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151384] |
Chr6:39905531 [GRCh38] Chr6:39873307 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*803C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151385] |
Chr6:39905554 [GRCh38] Chr6:39873330 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154616] |
Chr6:39925795 [GRCh38] Chr6:39893539 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*120C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155252] |
Chr6:39906237 [GRCh38] Chr6:39874013 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*1629G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154321] |
Chr6:39904728 [GRCh38] Chr6:39872504 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.124-167C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155456] |
Chr6:39927622 [GRCh38] Chr6:39895361 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1341T>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155153] |
Chr6:39905016 [GRCh38] Chr6:39872792 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.124-176A>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155457] |
Chr6:39927631 [GRCh38] Chr6:39895370 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) |
single nucleotide variant |
not provided [RCV001169946] |
Chr6:39925843 [GRCh38] Chr6:39893587 [GRCh37] Chr6:6p21.2 |
pathogenic |
NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151490] |
Chr6:39906868 [GRCh38] Chr6:39874644 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151491] |
Chr6:39906906 [GRCh38] Chr6:39874682 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.583+7G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001157021] |
Chr6:39916061 [GRCh38] Chr6:39883805 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1808G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154319] |
Chr6:39904549 [GRCh38] Chr6:39872325 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1226G>A (p.Gly409Asp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154512] |
Chr6:39907042 [GRCh38] Chr6:39874818 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154617] |
Chr6:39925814 [GRCh38] Chr6:39893558 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*326C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155249] |
Chr6:39906031 [GRCh38] Chr6:39873807 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1822T>C (p.Cys608Arg) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001250047] |
Chr6:39906446 [GRCh38] Chr6:39874222 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.868A>C (p.Lys290Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001155335] |
Chr6:39912894 [GRCh38] Chr6:39880638 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*1911C>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151249] |
Chr6:39904446 [GRCh38] Chr6:39872222 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.*1884G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151250] |
Chr6:39904473 [GRCh38] Chr6:39872249 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*888C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001151383] |
Chr6:39905469 [GRCh38] Chr6:39873245 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*2074A>G |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001156700] |
Chr6:39904283 [GRCh38] Chr6:39872059 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.1714C>T (p.Arg572Cys) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001156917] |
Chr6:39906554 [GRCh38] Chr6:39874330 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.*633C>T |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001154413] |
Chr6:39905724 [GRCh38] Chr6:39873500 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001253962] |
Chr6:39916220 [GRCh38] Chr6:39883964 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
Intellectual disability [RCV001252077] |
Chr6:39916221 [GRCh38] Chr6:39883965 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) |
single nucleotide variant |
Intellectual disability [RCV001252079] |
Chr6:39916166 [GRCh38] Chr6:39883910 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001253961] |
Chr6:39916196 [GRCh38] Chr6:39883940 [GRCh37] Chr6:6p21.2 |
likely benign |
NM_001358530.2(MOCS1):c.418+3G>A |
single nucleotide variant |
Molybdenum cofactor deficiency, complementation group A [RCV001253963] |
Chr6:39925675 [GRCh38] Chr6:39893419 [GRCh37] Chr6:6p21.2 |
uncertain significance |
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro) |
single nucleotide variant |
Intellectual disability [RCV001252078] |
Chr6:39934306 [GRCh38] Chr6:39902045 [GRCh37] Chr6:6p21.2 |
likely benign |