| NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) |
single nucleotide variant |
MOCS1-related disorder [RCV003407287]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000006493] |
Chr6:39912289 [GRCh38]
Chr6:39880033 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.217C>T (p.Arg73Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004018578]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000006495] |
Chr6:39927362 [GRCh38]
Chr6:39895101 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001358530.2(MOCS1):c.13C>T (p.Pro5Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002545587]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001348245] |
Chr6:39934405 [GRCh38]
Chr6:39902144 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.722del (p.Leu241fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000006491] |
Chr6:39913352 [GRCh38]
Chr6:39881096 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV004782010]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
MOCS1-related disorder [RCV003914813]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000006494]|not provided [RCV000732511] |
Chr6:39925677 [GRCh38]
Chr6:39893421 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.267C>T (p.Pro89=) |
single nucleotide variant |
MOCS1-related disorder [RCV004724808]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001425626] |
Chr6:39925829 [GRCh38]
Chr6:39893573 [GRCh37]
Chr6:6p21.2 |
likely benign|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 |
| NM_001358530.2(MOCS1):c.5C>A (p.Ala2Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001312278] |
Chr6:39934413 [GRCh38]
Chr6:39902152 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001859482]|not provided [RCV000254772] |
Chr6:39909834 [GRCh38]
Chr6:39877578 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000642135]|not provided [RCV001675866] |
Chr6:39925766 [GRCh38]
Chr6:39893510 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000265070] |
Chr6:39906553 [GRCh38]
Chr6:39874329 [GRCh37]
Chr6:6p21.2 |
benign|likely 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 |
Inborn genetic diseases [RCV002518405]|Intellectual disability [RCV001252317]|MOCS1-related disorder [RCV003907901]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000714706]|not provided [RCV000415797]|not specified [RCV001354513] |
Chr6:39912909 [GRCh38]
Chr6:39880653 [GRCh37]
Chr6:6p21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.27G>A (p.Met9Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001367604] |
Chr6:39934391 [GRCh38]
Chr6:39902130 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000273845] |
Chr6:39916225 [GRCh38]
Chr6:39883969 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*1424C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000276680] |
Chr6:39906952 [GRCh38]
Chr6:39874728 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*734C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000266582] |
Chr6:39905623 [GRCh38]
Chr6:39873399 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*987C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000313809] |
Chr6:39905370 [GRCh38]
Chr6:39873146 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1002C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000344116] |
Chr6:39905355 [GRCh38]
Chr6:39873131 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*908AATC[5] |
microsatellite |
Combined molybdoflavoprotein enzyme deficiency [RCV000368461]|not provided [RCV004695936] |
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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000394970] |
Chr6:39906468 [GRCh38]
Chr6:39874244 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*664T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000321743] |
Chr6:39905693 [GRCh38]
Chr6:39873469 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*824C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000300405] |
Chr6:39905533 [GRCh38]
Chr6:39873309 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*2A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000335215] |
Chr6:39906355 [GRCh38]
Chr6:39874131 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*908AATC[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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000270901]|not provided [RCV003430924] |
Chr6:39906855 [GRCh38]
Chr6:39874631 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.1028G>A (p.Arg343Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000373743] |
Chr6:39925738 [GRCh38]
Chr6:39893482 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1660ATAG[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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000325932] |
Chr6:39906901 [GRCh38]
Chr6:39874677 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*523TCCTG[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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000319610]|not provided [RCV001508184] |
Chr6:39916230 [GRCh38]
Chr6:39883974 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.758-9C>T |
single nucleotide variant |
MOCS1-related disorder [RCV003897800]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000403837] |
Chr6:39913013 [GRCh38]
Chr6:39880757 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*1003G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000304951] |
Chr6:39906480 [GRCh38]
Chr6:39874256 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*1893G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000339680]|not provided [RCV001692027] |
Chr6:39913358 [GRCh38]
Chr6:39881102 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*578C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000960562]|not provided [RCV001692029] |
Chr6:39913765 [GRCh38]
Chr6:39881509 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1405G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000330404] |
Chr6:39904952 [GRCh38]
Chr6:39872728 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1113T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000321815]|not provided [RCV001672674]|not specified [RCV004594050] |
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]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002523568]|not provided [RCV003884507] |
Chr6:39906581 [GRCh38]
Chr6:39874357 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1445C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000401397] |
Chr6:39904912 [GRCh38]
Chr6:39872688 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1909A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000291928]|not provided [RCV004707156] |
Chr6:39904448 [GRCh38]
Chr6:39872224 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.583+10T>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000362426]|not provided [RCV001675865] |
Chr6:39916058 [GRCh38]
Chr6:39883802 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000386186] |
Chr6:39907056 [GRCh38]
Chr6:39874832 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*477C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000381477] |
Chr6:39905880 [GRCh38]
Chr6:39873656 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*378G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000292889] |
Chr6:39905979 [GRCh38]
Chr6:39873755 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1857G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000343518] |
Chr6:39904500 [GRCh38]
Chr6:39872276 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*400C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000387097] |
Chr6:39905957 [GRCh38]
Chr6:39873733 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1928C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000277247]|not provided [RCV001709629] |
Chr6:39916062 [GRCh38]
Chr6:39883806 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.520G>A (p.Ala174Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002524477]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000326774] |
Chr6:39904415 [GRCh38]
Chr6:39872191 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.981+12C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000278880] |
Chr6:39912252 [GRCh38]
Chr6:39879996 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
MOCS1-related disorder [RCV003902387]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000359757]|not provided [RCV003422344] |
Chr6:39906516 [GRCh38]
Chr6:39874292 [GRCh37]
Chr6:6p21.2 |
benign|likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.519T>G (p.Ser173Arg) |
single nucleotide variant |
MOCS1-related disorder [RCV004742399]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000369242] |
Chr6:39904729 [GRCh38]
Chr6:39872505 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*762G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Inborn genetic diseases [RCV003298409]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000338777]|not provided [RCV004705406] |
Chr6:39906030 [GRCh38]
Chr6:39873806 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.*451C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000393365]|not provided [RCV001692028] |
Chr6:39913376 [GRCh38]
Chr6:39881120 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1660ATAG[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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000389781]|not provided [RCV001539189] |
Chr6:39906913 [GRCh38]
Chr6:39874689 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1629G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000312167] |
Chr6:39904728 [GRCh38]
Chr6:39872504 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.*135T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000394976]|not provided [RCV004695937] |
Chr6:39906222 [GRCh38]
Chr6:39873998 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*84A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000298920] |
Chr6:39906273 [GRCh38]
Chr6:39874049 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1334A>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000317583] |
Chr6:39905023 [GRCh38]
Chr6:39872799 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.*1305C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000372038] |
Chr6:39905052 [GRCh38]
Chr6:39872828 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*990T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000282363] |
Chr6:39907057 [GRCh38]
Chr6:39874833 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1067A>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000303508] |
Chr6:39913345 [GRCh38]
Chr6:39881089 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1436C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000384934] |
Chr6:39905719 [GRCh38]
Chr6:39873495 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1063T>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001853659]|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 |
MOCS1-related disorder [RCV003932539]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000605979]|not provided [RCV000415763] |
Chr6:39927524 [GRCh38]
Chr6:39927524..39927525 [GRCh38]
Chr6:39895263 [GRCh37]
Chr6:39895263..39895264 [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 |
Inborn genetic diseases [RCV002518406]|Intellectual disability [RCV001252080]|MOCS1-related disorder [RCV003907902]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000987692]|not provided [RCV000416188]|not specified [RCV001354730] |
Chr6:39909922 [GRCh38]
Chr6:39877666 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic|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 |
MOCS1-related disorder [RCV004742552]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000642134]|not provided [RCV003222073]|not specified [RCV003994058] |
Chr6:39909873 [GRCh38]
Chr6:39877617 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|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.107C>T (p.Ala36Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003287618] |
Chr6:39934311 [GRCh38]
Chr6:39902050 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155455] |
Chr6:39927417 [GRCh38]
Chr6:39895156 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000642133] |
Chr6:39909055 [GRCh38]
Chr6:39876831 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.717C>A (p.Leu239=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001422906] |
Chr6:39913357 [GRCh38]
Chr6:39881101 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.156G>C (p.Glu52Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000853363] |
Chr6:39909035 [GRCh38]
Chr6:39876811 [GRCh37]
Chr6:6p21.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001358530.2(MOCS1):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002536587]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001363832]|not provided [RCV000762410] |
Chr6:39927379 [GRCh38]
Chr6:39895118 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1102+235G>A |
single nucleotide variant |
not provided [RCV001680672] |
Chr6:39909600 [GRCh38]
Chr6:39877344 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.719C>T (p.Pro240Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001040457] |
Chr6:39913355 [GRCh38]
Chr6:39881099 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1000dup (p.Ser334fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001060714]|not provided [RCV001508183] |
Chr6:39909099 [GRCh38]
Chr6:39876875 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1102+1_1102+2del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Inborn genetic diseases [RCV003307448]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000798315] |
Chr6:39909921 [GRCh38]
Chr6:39877665 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.814C>T (p.Arg272Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002535914]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000794922] |
Chr6:39912948 [GRCh38]
Chr6:39880692 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*756A>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154614]|not provided [RCV000998597] |
Chr6:39925702 [GRCh38]
Chr6:39893446 [GRCh37]
Chr6:6p21.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000987691] |
Chr6:39906800 [GRCh38]
Chr6:39874576 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001358530.2(MOCS1):c.544C>A (p.Leu182Met) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV000853356]|not provided [RCV001528779] |
Chr6:39925719 [GRCh38]
Chr6:39893463 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154320] |
Chr6:39904605 [GRCh38]
Chr6:39872381 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1502A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154322] |
Chr6:39904855 [GRCh38]
Chr6:39872631 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*523T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154414]|not provided [RCV004694973] |
Chr6:39905834 [GRCh38]
Chr6:39873610 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1132C>G (p.Arg378Gly) |
single nucleotide variant |
MOCS1-related disorder [RCV004743302]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154615] |
Chr6:39925757 [GRCh38]
Chr6:39893501 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*1832G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151489]|not provided [RCV003433045] |
Chr6:39906600 [GRCh38]
Chr6:39874376 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.315G>A (p.Glu105=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003106381] |
Chr6:39925781 [GRCh38]
Chr6:39893525 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.402C>T (p.Asp134=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003104193] |
Chr6:39925694 [GRCh38]
Chr6:39893438 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.757+61T>G |
single nucleotide variant |
not provided [RCV001652944] |
Chr6:39913256 [GRCh38]
Chr6:39881000 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.583+151T>G |
single nucleotide variant |
not provided [RCV001680330] |
Chr6:39915917 [GRCh38]
Chr6:39883661 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004951430]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001244655] |
Chr6:39934341 [GRCh38]
Chr6:39902080 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*659A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154511]|not provided [RCV004584855] |
Chr6:39906953 [GRCh38]
Chr6:39874729 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.398C>T (p.Pro133Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002550723]|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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001462660] |
Chr6:39912988 [GRCh38]
Chr6:39880732 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+5G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002467386] |
Chr6:39925673 [GRCh38]
Chr6:39893417 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| MOCS1, ARG343TER |
variation |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004801483] |
|
pathogenic |
| NM_001358530.2(MOCS1):c.251-2A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004801484] |
Chr6:39925847 [GRCh38]
Chr6:39893591 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.981+177G>C |
single nucleotide variant |
not provided [RCV001619294] |
Chr6:39912087 [GRCh38]
Chr6:39879831 [GRCh37]
Chr6:6p21.2 |
benign |
| NC_000006.12:g.39934750G>A |
single nucleotide variant |
not provided [RCV001538520] |
Chr6:39934750 [GRCh38]
Chr6:39902489 [GRCh37]
Chr6:6p21.2 |
benign |
| NC_000006.12:g.39934712G>C |
single nucleotide variant |
not provided [RCV001678164] |
Chr6:39934712 [GRCh38]
Chr6:39902451 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.583+46A>G |
single nucleotide variant |
not provided [RCV001598723] |
Chr6:39916022 [GRCh38]
Chr6:39883766 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.*1954G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001156701] |
Chr6:39904403 [GRCh38]
Chr6:39872179 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1307A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155154] |
Chr6:39905050 [GRCh38]
Chr6:39872826 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*282T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155250] |
Chr6:39906075 [GRCh38]
Chr6:39873851 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*142C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155251] |
Chr6:39906215 [GRCh38]
Chr6:39873991 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*76T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001156916] |
Chr6:39906281 [GRCh38]
Chr6:39874057 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.583+12T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001157020] |
Chr6:39916056 [GRCh38]
Chr6:39883800 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.707C>T (p.Thr236Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002559509]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001157019] |
Chr6:39913367 [GRCh38]
Chr6:39881111 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1046A>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Inborn genetic diseases [RCV004629468]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154514] |
Chr6:39909839 [GRCh38]
Chr6:39877583 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1835T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151251] |
Chr6:39904522 [GRCh38]
Chr6:39872298 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*826A>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151384] |
Chr6:39905531 [GRCh38]
Chr6:39873307 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.*803C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154616] |
Chr6:39925795 [GRCh38]
Chr6:39893539 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*120C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155252] |
Chr6:39906237 [GRCh38]
Chr6:39874013 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.*1629G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154321] |
Chr6:39904728 [GRCh38]
Chr6:39872504 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-167C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155456] |
Chr6:39927622 [GRCh38]
Chr6:39895361 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1341T>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155153] |
Chr6:39905016 [GRCh38]
Chr6:39872792 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-176A>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
MOCS1-related disorder [RCV003396782]|not provided [RCV001169946] |
Chr6:39925843 [GRCh38]
Chr6:39893587 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.418+212C>T |
single nucleotide variant |
not provided [RCV001684772] |
Chr6:39925466 [GRCh38]
Chr6:39893210 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.1400G>A (p.Trp467Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151491] |
Chr6:39906906 [GRCh38]
Chr6:39874682 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.583+7G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001157021] |
Chr6:39916061 [GRCh38]
Chr6:39883805 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*1808G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
MOCS1-related disorder [RCV003906274]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001154617]|not provided [RCV003433053] |
Chr6:39925814 [GRCh38]
Chr6:39893558 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.*326C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001155335] |
Chr6:39912894 [GRCh38]
Chr6:39880638 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*1911C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151249] |
Chr6:39904446 [GRCh38]
Chr6:39872222 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.*1884G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151250] |
Chr6:39904473 [GRCh38]
Chr6:39872249 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*888C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001151383] |
Chr6:39905469 [GRCh38]
Chr6:39873245 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*2074A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001156917] |
Chr6:39906554 [GRCh38]
Chr6:39874330 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.*633C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Inborn genetic diseases [RCV004960660]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001253962]|not specified [RCV003387985] |
Chr6:39916220 [GRCh38]
Chr6:39883964 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
Intellectual disability [RCV001252077]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001347207]|not provided [RCV001726469] |
Chr6:39916221 [GRCh38]
Chr6:39883965 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln) |
single nucleotide variant |
Intellectual disability [RCV001252079]|MOCS1-related disorder [RCV004743369]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001879842]|not provided [RCV004793366] |
Chr6:39916166 [GRCh38]
Chr6:39883910 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.455G>A (p.Gly152Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001253961]|not provided [RCV002274163] |
Chr6:39916196 [GRCh38]
Chr6:39883940 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.418+3G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type 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 |
Inborn genetic diseases [RCV003284132]|Intellectual disability [RCV001252078]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003106165] |
Chr6:39934306 [GRCh38]
Chr6:39902045 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.136C>T (p.Arg46Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001313447] |
Chr6:39927443 [GRCh38]
Chr6:39895182 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.518G>C (p.Ser173Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001294360] |
Chr6:39916133 [GRCh38]
Chr6:39883877 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.96C>T (p.Pro32=) |
single nucleotide variant |
MOCS1-related disorder [RCV004743396]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001518817]|not provided [RCV001310915] |
Chr6:39934322 [GRCh38]
Chr6:39902061 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.419-73_419-4dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002001512] |
Chr6:39916235..39916236 [GRCh38]
Chr6:39883979..39883980 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.137G>A (p.Arg46Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001319816] |
Chr6:39927442 [GRCh38]
Chr6:39895181 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.11:g.(?_39881041)_(39902176_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001308192] |
Chr6:39881041..39902176 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.614A>G (p.Lys205Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001305174] |
Chr6:39913805 [GRCh38]
Chr6:39881549 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.758-3C>T |
single nucleotide variant |
MOCS1-related disorder [RCV004743393]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001307843]|not provided [RCV003334049]|not specified [RCV004782701] |
Chr6:39913007 [GRCh38]
Chr6:39880751 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1085A>G (p.Lys362Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001336890]|not provided [RCV004692577] |
Chr6:39909852 [GRCh38]
Chr6:39877596 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1080C>T (p.Gly360=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001318278] |
Chr6:39909857 [GRCh38]
Chr6:39877601 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.722T>G (p.Leu241Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001337224] |
Chr6:39913352 [GRCh38]
Chr6:39881096 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.829G>A (p.Glu277Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001294574] |
Chr6:39912933 [GRCh38]
Chr6:39880677 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001304418] |
Chr6:39934414 [GRCh38]
Chr6:39902153 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.602A>G (p.Glu201Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001321967]|not provided [RCV004692495] |
Chr6:39913817 [GRCh38]
Chr6:39881561 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.632A>G (p.Tyr211Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001351483] |
Chr6:39913787 [GRCh38]
Chr6:39881531 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.268G>A (p.Glu90Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001351653] |
Chr6:39925828 [GRCh38]
Chr6:39893572 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001339193] |
Chr6:39927404 [GRCh38]
Chr6:39895143 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.815G>A (p.Arg272Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001372724] |
Chr6:39912947 [GRCh38]
Chr6:39880691 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.938G>T (p.Gly313Val) |
single nucleotide variant |
not provided [RCV001356198] |
Chr6:39912307 [GRCh38]
Chr6:39880051 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1744C>G (p.Arg582Gly) |
single nucleotide variant |
not provided [RCV001358572] |
Chr6:39906524 [GRCh38]
Chr6:39874300 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.379G>A (p.Gly127Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002543662]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001315050] |
Chr6:39925717 [GRCh38]
Chr6:39893461 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004952817]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362070]|not provided [RCV005225392]|not specified [RCV004587141] |
Chr6:39916167 [GRCh38]
Chr6:39883911 [GRCh37]
Chr6:6p21.2 |
likely pathogenic|uncertain significance |
| NM_001358530.2(MOCS1):c.344T>C (p.Val115Ala) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362800] |
Chr6:39925752 [GRCh38]
Chr6:39893496 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.558G>C (p.Lys186Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004960851]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001351778] |
Chr6:39916093 [GRCh38]
Chr6:39883837 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.358G>A (p.Asp120Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001319847] |
Chr6:39925738 [GRCh38]
Chr6:39893482 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.962C>T (p.Thr321Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362641] |
Chr6:39912283 [GRCh38]
Chr6:39880027 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.250T>C (p.Cys84Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001360263] |
Chr6:39927329 [GRCh38]
Chr6:39895068 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.11:g.(?_39876803)_(39902176_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001364822] |
Chr6:39876803..39902176 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.412A>G (p.Ile138Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001340603] |
Chr6:39925684 [GRCh38]
Chr6:39893428 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1141A>G (p.Ile381Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362940] |
Chr6:39909064 [GRCh38]
Chr6:39876840 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.82A>T (p.Thr28Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003284220]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001339853] |
Chr6:39934336 [GRCh38]
Chr6:39902075 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.334C>T (p.Arg112Trp) |
single nucleotide variant |
MOCS1-related disorder [RCV003405528]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001308726]|not provided [RCV003326562] |
Chr6:39925762 [GRCh38]
Chr6:39893506 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.367C>T (p.Arg123Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001346725] |
Chr6:39925729 [GRCh38]
Chr6:39893473 [GRCh37]
Chr6:6p21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.294A>T (p.Lys98Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004035852]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001338077] |
Chr6:39925802 [GRCh38]
Chr6:39893546 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.853G>C (p.Glu285Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001342459] |
Chr6:39912909 [GRCh38]
Chr6:39880653 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.176C>T (p.Ala59Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001342460] |
Chr6:39927403 [GRCh38]
Chr6:39895142 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.61T>C (p.Cys21Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003346533]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001372107] |
Chr6:39934357 [GRCh38]
Chr6:39902096 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.645+6G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001373985] |
Chr6:39913768 [GRCh38]
Chr6:39881512 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001368407] |
Chr6:39934415 [GRCh38]
Chr6:39902154 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.646G>A (p.Val216Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002546100]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001323187] |
Chr6:39913428 [GRCh38]
Chr6:39881172 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.777G>T (p.Lys259Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001345185] |
Chr6:39912985 [GRCh38]
Chr6:39880729 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.777G>C (p.Lys259Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001363211] |
Chr6:39912985 [GRCh38]
Chr6:39880729 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.11G>A (p.Arg4Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003169673]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001345484] |
Chr6:39934407 [GRCh38]
Chr6:39902146 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.757+4A>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001321216] |
Chr6:39913313 [GRCh38]
Chr6:39881057 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.740A>T (p.Glu247Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362392] |
Chr6:39913334 [GRCh38]
Chr6:39881078 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.631T>C (p.Tyr211His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001324420] |
Chr6:39913788 [GRCh38]
Chr6:39881532 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.610C>T (p.His204Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003169833]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001364472] |
Chr6:39913809 [GRCh38]
Chr6:39881553 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.357C>T (p.Ile119=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001474153]|not provided [RCV001310914] |
Chr6:39925739 [GRCh38]
Chr6:39893483 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.937G>A (p.Gly313Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001350693] |
Chr6:39912308 [GRCh38]
Chr6:39880052 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.746T>A (p.Met249Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001367766] |
Chr6:39913328 [GRCh38]
Chr6:39881072 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.628G>A (p.Gly210Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004037035]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001368113] |
Chr6:39913791 [GRCh38]
Chr6:39881535 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.331G>A (p.Ala111Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001341225] |
Chr6:39925765 [GRCh38]
Chr6:39893509 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.485G>T (p.Arg162Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001302596] |
Chr6:39916166 [GRCh38]
Chr6:39883910 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.306G>C (p.Leu102=) |
single nucleotide variant |
MOCS1-related disorder [RCV004743464]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001413063] |
Chr6:39925790 [GRCh38]
Chr6:39893534 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.942C>T (p.Thr314=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001435397] |
Chr6:39912303 [GRCh38]
Chr6:39880047 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.675C>T (p.Asn225=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001506468] |
Chr6:39913399 [GRCh38]
Chr6:39881143 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1150+3dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001527394] |
Chr6:39909049..39909050 [GRCh38]
Chr6:39876825..39876826 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.1089G>A (p.Lys363=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001497371] |
Chr6:39909848 [GRCh38]
Chr6:39877592 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+7C>T |
single nucleotide variant |
MOCS1-related disorder [RCV004743513]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001467136]|not provided [RCV003334043]|not specified [RCV004782743] |
Chr6:39913767 [GRCh38]
Chr6:39881511 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.291del (p.Ala99fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001383740] |
Chr6:39925805 [GRCh38]
Chr6:39893549 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.171C>T (p.Phe57=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001416183] |
Chr6:39927408 [GRCh38]
Chr6:39895147 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.646-7C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001483832] |
Chr6:39913435 [GRCh38]
Chr6:39881179 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.584-5C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001472673] |
Chr6:39913840 [GRCh38]
Chr6:39881584 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.216G>T (p.Leu72=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001409767] |
Chr6:39927363 [GRCh38]
Chr6:39895102 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1149C>T (p.Ile383=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001430694] |
Chr6:39909056 [GRCh38]
Chr6:39876832 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.15A>G (p.Pro5=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001444723] |
Chr6:39934403 [GRCh38]
Chr6:39902142 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.174C>T (p.Ser58=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001426765] |
Chr6:39927405 [GRCh38]
Chr6:39895144 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+118G>A |
single nucleotide variant |
not provided [RCV001710035] |
Chr6:39913656 [GRCh38]
Chr6:39881400 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.419-142A>G |
single nucleotide variant |
not provided [RCV001613712] |
Chr6:39916374 [GRCh38]
Chr6:39884118 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.-27G>T |
single nucleotide variant |
not provided [RCV001685625] |
Chr6:39934444 [GRCh38]
Chr6:39902183 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.645+9G>A |
single nucleotide variant |
MOCS1-related disorder [RCV003931114]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001518974] |
Chr6:39913765 [GRCh38]
Chr6:39881509 [GRCh37]
Chr6:6p21.2 |
benign|likely benign |
| NM_001358530.2(MOCS1):c.123+14G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001509938] |
Chr6:39934281 [GRCh38]
Chr6:39902020 [GRCh37]
Chr6:6p21.2 |
benign |
| NC_000006.11:g.(?_39892062)_39895188del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001378351] |
|
likely pathogenic |
| NM_001358530.2(MOCS1):c.399G>A (p.Pro133=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001454666]|not provided [RCV004706177] |
Chr6:39925697 [GRCh38]
Chr6:39893441 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.981+1G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001377537] |
Chr6:39912263 [GRCh38]
Chr6:39880007 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NC_000006.11:g.(?_39874133)_(39902156_?)del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003107364] |
Chr6:39874133..39902156 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.575G>A (p.Arg192His) |
single nucleotide variant |
Inborn genetic diseases [RCV002540425]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001868510]|not provided [RCV001752354] |
Chr6:39916076 [GRCh38]
Chr6:39883820 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.77C>A (p.Pro26Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001864318]|not provided [RCV004693834] |
Chr6:39934341 [GRCh38]
Chr6:39902080 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.981+6C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001987968] |
Chr6:39912258 [GRCh38]
Chr6:39880002 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1103-8C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001971112] |
Chr6:39909110 [GRCh38]
Chr6:39876886 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.60C>A (p.Ser20Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004946907]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002001875] |
Chr6:39934358 [GRCh38]
Chr6:39902097 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1735G>A (p.Ala579Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001949144] |
Chr6:39906533 [GRCh38]
Chr6:39874309 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.564G>T (p.Glu188Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002024907] |
Chr6:39916087 [GRCh38]
Chr6:39883831 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.11:g.(?_39895048)_(39895317_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002045030] |
Chr6:39895048..39895317 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.281C>T (p.Pro94Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001982743] |
Chr6:39925815 [GRCh38]
Chr6:39893559 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.455G>T (p.Gly152Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001864093] |
Chr6:39916196 [GRCh38]
Chr6:39883940 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1132C>T (p.Arg378Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003289309]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001965856] |
Chr6:39909073 [GRCh38]
Chr6:39876849 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.451A>G (p.Ile151Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002657682]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002022390] |
Chr6:39916200 [GRCh38]
Chr6:39883944 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.926A>T (p.Glu309Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002002260] |
Chr6:39912319 [GRCh38]
Chr6:39880063 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.37C>T (p.Leu13Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002552220]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001889828] |
Chr6:39934381 [GRCh38]
Chr6:39902120 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.218G>A (p.Arg73Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001908764] |
Chr6:39927361 [GRCh38]
Chr6:39895100 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.986G>C (p.Cys329Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002005025] |
Chr6:39909951 [GRCh38]
Chr6:39877695 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1036G>C (p.Ala346Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002008112] |
Chr6:39909901 [GRCh38]
Chr6:39877645 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.164C>T (p.Ala55Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001928825] |
Chr6:39927415 [GRCh38]
Chr6:39895154 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.583+3G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001909927] |
Chr6:39916065 [GRCh38]
Chr6:39883809 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1222C>T (p.Gln408Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001914027] |
Chr6:39907046 [GRCh38]
Chr6:39874822 [GRCh37]
Chr6:6p21.2 |
pathogenic|uncertain significance |
| NM_001358530.2(MOCS1):c.831G>T (p.Glu277Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001986863] |
Chr6:39912931 [GRCh38]
Chr6:39880675 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.106G>A (p.Ala36Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001982872] |
Chr6:39934312 [GRCh38]
Chr6:39902051 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001927872] |
Chr6:39934411 [GRCh38]
Chr6:39902150 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.395G>A (p.Arg132Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001889771] |
Chr6:39925701 [GRCh38]
Chr6:39893445 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.359A>G (p.Asp120Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001871406] |
Chr6:39925737 [GRCh38]
Chr6:39893481 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.950G>T (p.Arg317Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001913140] |
Chr6:39912295 [GRCh38]
Chr6:39880039 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.163G>T (p.Ala55Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004955860]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001943880] |
Chr6:39927416 [GRCh38]
Chr6:39895155 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.955C>T (p.Arg319Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001958894] |
Chr6:39912290 [GRCh38]
Chr6:39880034 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.268G>T (p.Glu90Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002037865] |
Chr6:39925828 [GRCh38]
Chr6:39893572 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.646-6G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002563375]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001936605] |
Chr6:39913434 [GRCh38]
Chr6:39881178 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.100G>C (p.Glu34Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001923824] |
Chr6:39934318 [GRCh38]
Chr6:39902057 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.730C>T (p.Arg244Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001938404] |
Chr6:39913344 [GRCh38]
Chr6:39881088 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.226C>G (p.Leu76Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002000830] |
Chr6:39927353 [GRCh38]
Chr6:39895092 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.166C>T (p.Pro56Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001905996] |
Chr6:39927413 [GRCh38]
Chr6:39895152 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1150+1G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001886816] |
Chr6:39909054 [GRCh38]
Chr6:39876830 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001358530.2(MOCS1):c.352G>A (p.Gly118Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002551687]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001880666] |
Chr6:39925744 [GRCh38]
Chr6:39893488 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.863C>T (p.Thr288Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004955942]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001978851] |
Chr6:39912899 [GRCh38]
Chr6:39880643 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1175C>T (p.Ser392Phe) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001924327] |
Chr6:39907093 [GRCh38]
Chr6:39874869 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.368G>A (p.Arg123Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003375549]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002025980] |
Chr6:39925728 [GRCh38]
Chr6:39893472 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1423C>A (p.Pro475Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002033159] |
Chr6:39906845 [GRCh38]
Chr6:39874621 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.825G>T (p.Trp275Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001989061] |
Chr6:39912937 [GRCh38]
Chr6:39880681 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1801G>A (p.Ala601Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002000632] |
Chr6:39906467 [GRCh38]
Chr6:39874243 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.920T>C (p.Met307Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001974833] |
Chr6:39912325 [GRCh38]
Chr6:39880069 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.419C>T (p.Ala140Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001901721] |
Chr6:39916232 [GRCh38]
Chr6:39883976 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1133G>A (p.Arg378Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001919463] |
Chr6:39909072 [GRCh38]
Chr6:39876848 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.783G>C (p.Met261Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001880320] |
Chr6:39912979 [GRCh38]
Chr6:39880723 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.982-3T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002012009] |
Chr6:39909958 [GRCh38]
Chr6:39877702 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.391A>T (p.Ile131Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004641704]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002032979] |
Chr6:39925705 [GRCh38]
Chr6:39893449 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.823T>C (p.Trp275Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002009475] |
Chr6:39912939 [GRCh38]
Chr6:39880683 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.20C>G (p.Ser7Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001988866] |
Chr6:39934398 [GRCh38]
Chr6:39902137 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.896G>T (p.Gly299Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001930310] |
Chr6:39912349 [GRCh38]
Chr6:39880093 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.343del (p.Phe114_Val115insTer) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002012199] |
Chr6:39925753 [GRCh38]
Chr6:39893497 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1751G>A (p.Arg584Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001875370]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B [RCV004771511] |
Chr6:39906517 [GRCh38]
Chr6:39874293 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.452T>C (p.Ile151Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001902792] |
Chr6:39916199 [GRCh38]
Chr6:39883943 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.554C>T (p.Ala185Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004955983]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002012288] |
Chr6:39916097 [GRCh38]
Chr6:39883841 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.26T>G (p.Met9Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001992015] |
Chr6:39934392 [GRCh38]
Chr6:39902131 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.403G>A (p.Val135Met) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001870203] |
Chr6:39925693 [GRCh38]
Chr6:39893437 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.271del (p.Glu91fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001953874] |
Chr6:39925825 [GRCh38]
Chr6:39893569 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1723G>A (p.Val575Met) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001875613] |
Chr6:39906545 [GRCh38]
Chr6:39874321 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1091G>A (p.Arg364Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001958114] |
Chr6:39909846 [GRCh38]
Chr6:39877590 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.11:g.(?_39877569)_(39902156_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001900370] |
Chr6:39877569..39902156 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1477A>G (p.Met493Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001935985] |
Chr6:39906791 [GRCh38]
Chr6:39874567 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.34C>T (p.Arg12Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001997046] |
Chr6:39934384 [GRCh38]
Chr6:39902123 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1894dup (p.Asp632fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001905819] |
Chr6:39906373..39906374 [GRCh38]
Chr6:39874149..39874150 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.997A>T (p.Asn333Tyr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001960924] |
Chr6:39909940 [GRCh38]
Chr6:39877684 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.619A>T (p.Ile207Phe) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001992457] |
Chr6:39913800 [GRCh38]
Chr6:39881544 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.596T>A (p.Val199Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002019447] |
Chr6:39913823 [GRCh38]
Chr6:39881567 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.699G>A (p.Ala233=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002048442] |
Chr6:39913375 [GRCh38]
Chr6:39881119 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.196G>A (p.Gly66Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002014765] |
Chr6:39927383 [GRCh38]
Chr6:39895122 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.112G>T (p.Ala38Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001879288] |
Chr6:39934306 [GRCh38]
Chr6:39902045 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.278T>A (p.Val93Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001919861] |
Chr6:39925818 [GRCh38]
Chr6:39893562 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.793A>G (p.Lys265Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001921945] |
Chr6:39912969 [GRCh38]
Chr6:39880713 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1102+2T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002016843] |
Chr6:39909833 [GRCh38]
Chr6:39877577 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.1010C>T (p.Ser337Phe) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001996769] |
Chr6:39909927 [GRCh38]
Chr6:39877671 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.721del (p.Leu241fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001960072] |
Chr6:39913353 [GRCh38]
Chr6:39881097 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.61T>A (p.Cys21Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001997990] |
Chr6:39934357 [GRCh38]
Chr6:39902096 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.335G>A (p.Arg112Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001926043] |
Chr6:39925761 [GRCh38]
Chr6:39893505 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.64_93dup (p.Ser22_Cys31dup) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001960143] |
Chr6:39934324..39934325 [GRCh38]
Chr6:39902063..39902064 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.649A>T (p.Asn217Tyr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001955398] |
Chr6:39913425 [GRCh38]
Chr6:39881169 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.574C>T (p.Arg192Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002013987] |
Chr6:39916077 [GRCh38]
Chr6:39883821 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.161C>T (p.Ala54Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002010177] |
Chr6:39927418 [GRCh38]
Chr6:39895157 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1372A>G (p.Asn458Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001938430] |
Chr6:39906896 [GRCh38]
Chr6:39874672 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.199C>T (p.Arg67Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001885920] |
Chr6:39927380 [GRCh38]
Chr6:39895119 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1069G>T (p.Ala357Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001924152] |
Chr6:39909868 [GRCh38]
Chr6:39877612 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1322G>T (p.Gly441Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001905556] |
Chr6:39906946 [GRCh38]
Chr6:39874722 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.386C>G (p.Pro129Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001959399] |
Chr6:39925710 [GRCh38]
Chr6:39893454 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.713G>T (p.Gly238Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001981372] |
Chr6:39913361 [GRCh38]
Chr6:39881105 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.621C>G (p.Ile207Met) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002019757] |
Chr6:39913798 [GRCh38]
Chr6:39881542 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.529A>G (p.Ile177Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001976441] |
Chr6:39916122 [GRCh38]
Chr6:39883866 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.630C>T (p.Gly210=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002047935] |
Chr6:39913789 [GRCh38]
Chr6:39881533 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.583+6C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001901788] |
Chr6:39916062 [GRCh38]
Chr6:39883806 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.17_18delinsCT (p.Leu6Pro) |
indel |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001904037] |
Chr6:39934400..39934401 [GRCh38]
Chr6:39902139..39902140 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.48del (p.Ser17fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001951197] |
Chr6:39934370 [GRCh38]
Chr6:39902109 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1001_1002del (p.Asn333_Ser334insTer) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001900192] |
Chr6:39909935..39909936 [GRCh38]
Chr6:39877679..39877680 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.418+6T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001880412] |
Chr6:39925672 [GRCh38]
Chr6:39893416 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1469G>A (p.Arg490Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001903302] |
Chr6:39906799 [GRCh38]
Chr6:39874575 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.763A>C (p.Lys255Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002046613] |
Chr6:39912999 [GRCh38]
Chr6:39880743 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1761C>G (p.Thr587=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002147337] |
Chr6:39906507 [GRCh38]
Chr6:39874283 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.583+10T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002147401] |
Chr6:39916058 [GRCh38]
Chr6:39883802 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+13C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002105355] |
Chr6:39934282 [GRCh38]
Chr6:39902021 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.693C>T (p.Asp231=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002088950] |
Chr6:39913381 [GRCh38]
Chr6:39881125 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-4G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002090628] |
Chr6:39927459 [GRCh38]
Chr6:39895198 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.36G>T (p.Arg12=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002210733] |
Chr6:39934382 [GRCh38]
Chr6:39902121 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.646-10C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002192830] |
Chr6:39913438 [GRCh38]
Chr6:39881182 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1212G>A (p.Pro404=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002147783]|not provided [RCV003883776] |
Chr6:39907056 [GRCh38]
Chr6:39874832 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1014G>A (p.Leu338=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002146042] |
Chr6:39909923 [GRCh38]
Chr6:39877667 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+10C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002149157] |
Chr6:39934285 [GRCh38]
Chr6:39902024 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.870+13G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002076321] |
Chr6:39912879 [GRCh38]
Chr6:39880623 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.250+16G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002109003] |
Chr6:39927313 [GRCh38]
Chr6:39895052 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1131C>T (p.Asn377=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002168703] |
Chr6:39909074 [GRCh38]
Chr6:39876850 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.237G>A (p.Lys79=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002079572] |
Chr6:39927342 [GRCh38]
Chr6:39895081 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1722C>T (p.Ala574=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002150430] |
Chr6:39906546 [GRCh38]
Chr6:39874322 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.642G>C (p.Val214=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002153013] |
Chr6:39913777 [GRCh38]
Chr6:39881521 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.419-19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002134479] |
Chr6:39916251 [GRCh38]
Chr6:39883995 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+17T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002094496] |
Chr6:39934278 [GRCh38]
Chr6:39902017 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.306G>A (p.Leu102=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002216200] |
Chr6:39925790 [GRCh38]
Chr6:39893534 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.195C>T (p.Phe65=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002089691] |
Chr6:39927384 [GRCh38]
Chr6:39895123 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1809C>G (p.Thr603=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002095364] |
Chr6:39906459 [GRCh38]
Chr6:39874235 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1029A>G (p.Arg343=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002149813] |
Chr6:39909908 [GRCh38]
Chr6:39877652 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.339C>A (p.Leu113=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002195564] |
Chr6:39925757 [GRCh38]
Chr6:39893501 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.871-11C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002096365] |
Chr6:39912385 [GRCh38]
Chr6:39880129 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+11C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002190520] |
Chr6:39925667 [GRCh38]
Chr6:39893411 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.758-17C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002073781] |
Chr6:39913021 [GRCh38]
Chr6:39880765 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.624G>A (p.Glu208=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002077677] |
Chr6:39913795 [GRCh38]
Chr6:39881539 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.870+16G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002135284] |
Chr6:39912876 [GRCh38]
Chr6:39880620 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.584-18C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002212919] |
Chr6:39913853 [GRCh38]
Chr6:39881597 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1102+12G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002196082] |
Chr6:39909823 [GRCh38]
Chr6:39877567 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-7C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002172177] |
Chr6:39925852 [GRCh38]
Chr6:39893596 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.982-6A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002209280] |
Chr6:39909961 [GRCh38]
Chr6:39877705 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-20T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002092559] |
Chr6:39927475 [GRCh38]
Chr6:39895214 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1023C>T (p.His341=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002078183]|not provided [RCV003426309] |
Chr6:39909914 [GRCh38]
Chr6:39877658 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002076798] |
Chr6:39913755 [GRCh38]
Chr6:39881499 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1806C>T (p.Leu602=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002078236] |
Chr6:39906462 [GRCh38]
Chr6:39874238 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.870+15G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002192999] |
Chr6:39912877 [GRCh38]
Chr6:39880621 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.982-18G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002170847] |
Chr6:39909973 [GRCh38]
Chr6:39877717 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.982-4G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002149711] |
Chr6:39909959 [GRCh38]
Chr6:39877703 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-14C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002106282] |
Chr6:39925859 [GRCh38]
Chr6:39893603 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1065T>C (p.Ile355=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002174669] |
Chr6:39909872 [GRCh38]
Chr6:39877616 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1860C>A (p.Ile620=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002152140] |
Chr6:39906408 [GRCh38]
Chr6:39874184 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+18C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002178720] |
Chr6:39913756 [GRCh38]
Chr6:39881500 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.339C>G (p.Leu113=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002082993] |
Chr6:39925757 [GRCh38]
Chr6:39893501 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1744C>T (p.Arg582Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002097971] |
Chr6:39906524 [GRCh38]
Chr6:39874300 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-11C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002081574] |
Chr6:39925856 [GRCh38]
Chr6:39893600 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001358530.2(MOCS1):c.1389C>T (p.Ser463=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002202068] |
Chr6:39906879 [GRCh38]
Chr6:39874655 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.982-20T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002083778] |
Chr6:39909975 [GRCh38]
Chr6:39877719 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.981+13T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002198609] |
Chr6:39912251 [GRCh38]
Chr6:39879995 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002160620] |
Chr6:39927474 [GRCh38]
Chr6:39895213 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.871-8C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002156903] |
Chr6:39912382 [GRCh38]
Chr6:39880126 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-4G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002178256] |
Chr6:39927459 [GRCh38]
Chr6:39895198 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+12G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002143940] |
Chr6:39925666 [GRCh38]
Chr6:39893410 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.639T>G (p.Pro213=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002081500] |
Chr6:39913780 [GRCh38]
Chr6:39881524 [GRCh37]
Chr6:6p21.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001358530.2(MOCS1):c.882C>A (p.Ile294=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002081503]|not provided [RCV005242182] |
Chr6:39912363 [GRCh38]
Chr6:39880107 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1497G>A (p.Lys499=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002177576] |
Chr6:39906771 [GRCh38]
Chr6:39874547 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.372C>T (p.Leu124=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002140908] |
Chr6:39925724 [GRCh38]
Chr6:39893468 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.214C>T (p.Leu72=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002202428] |
Chr6:39927365 [GRCh38]
Chr6:39895104 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+12C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002101267] |
Chr6:39934283 [GRCh38]
Chr6:39902022 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.871-16A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002163459] |
Chr6:39912390 [GRCh38]
Chr6:39880134 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1062C>A (p.Ile354=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002139461] |
Chr6:39909875 [GRCh38]
Chr6:39877619 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+13A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002162088] |
Chr6:39925665 [GRCh38]
Chr6:39893409 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.33G>A (p.Arg11=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002219068] |
Chr6:39934385 [GRCh38]
Chr6:39902124 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+20G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002219077] |
Chr6:39913754 [GRCh38]
Chr6:39881498 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.564G>A (p.Glu188=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002141549] |
Chr6:39916087 [GRCh38]
Chr6:39883831 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.419-4A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002217571] |
Chr6:39916236 [GRCh38]
Chr6:39883980 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1035G>A (p.Gly345=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002099652] |
Chr6:39909902 [GRCh38]
Chr6:39877646 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.870+19G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002176819] |
Chr6:39912873 [GRCh38]
Chr6:39880617 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.595G>A (p.Val199Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003110267] |
Chr6:39913824 [GRCh38]
Chr6:39881568 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.823T>A (p.Trp275Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003120063] |
Chr6:39912939 [GRCh38]
Chr6:39880683 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.51C>T (p.Ser17=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003121144] |
Chr6:39934367 [GRCh38]
Chr6:39902106 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.159T>C (p.His53=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003121756] |
Chr6:39927420 [GRCh38]
Chr6:39895159 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.167C>T (p.Pro56Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003120080] |
Chr6:39927412 [GRCh38]
Chr6:39895151 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1889G>C (p.Arg630Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003097827]|not provided [RCV002293143] |
Chr6:39906379 [GRCh38]
Chr6:39874155 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1150+19C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002837636] |
Chr6:39909036 [GRCh38]
Chr6:39876812 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1570C>G (p.Gln524Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002305111] |
Chr6:39906698 [GRCh38]
Chr6:39874474 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-123A>G |
single nucleotide variant |
not specified [RCV002302528] |
Chr6:39927578 [GRCh38]
Chr6:39895317 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1745G>T (p.Arg582Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002303373] |
Chr6:39906523 [GRCh38]
Chr6:39874299 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1848G>A (p.Val616=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002750289] |
Chr6:39906420 [GRCh38]
Chr6:39874196 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1258G>T (p.Val420Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002967973] |
Chr6:39907010 [GRCh38]
Chr6:39874786 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.348G>A (p.Lys116=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002904287] |
Chr6:39925748 [GRCh38]
Chr6:39893492 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1547C>T (p.Pro516Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002750425] |
Chr6:39906721 [GRCh38]
Chr6:39874497 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1853A>G (p.Glu618Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002730884] |
Chr6:39906415 [GRCh38]
Chr6:39874191 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1546C>T (p.Pro516Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002730885] |
Chr6:39906722 [GRCh38]
Chr6:39874498 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1904G>A (p.Arg635Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002731217] |
Chr6:39906364 [GRCh38]
Chr6:39874140 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1823G>A (p.Cys608Tyr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002755467] |
Chr6:39906445 [GRCh38]
Chr6:39874221 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.22C>G (p.Arg8Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002756455] |
Chr6:39934396 [GRCh38]
Chr6:39902135 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.861C>A (p.Ser287Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002734815] |
Chr6:39912901 [GRCh38]
Chr6:39880645 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1167C>T (p.Phe389=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002993924] |
Chr6:39907101 [GRCh38]
Chr6:39874877 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1162A>G (p.Met388Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002948277] |
Chr6:39907106 [GRCh38]
Chr6:39874882 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.360C>A (p.Asp120Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002908655] |
Chr6:39925736 [GRCh38]
Chr6:39893480 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1889G>A (p.Arg630Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002755673]|not provided [RCV004774725] |
Chr6:39906379 [GRCh38]
Chr6:39874155 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.486del (p.Leu163fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002908765] |
Chr6:39916165 [GRCh38]
Chr6:39883909 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1416C>T (p.Pro472=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003017426] |
Chr6:39906852 [GRCh38]
Chr6:39874628 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1749T>C (p.Ala583=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002857994] |
Chr6:39906519 [GRCh38]
Chr6:39874295 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.350A>T (p.Glu117Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002971721] |
Chr6:39925746 [GRCh38]
Chr6:39893490 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.758-6A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003035120] |
Chr6:39913010 [GRCh38]
Chr6:39880754 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1752G>T (p.Arg584=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002971389] |
Chr6:39906516 [GRCh38]
Chr6:39874292 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1103-1G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003014419] |
Chr6:39909103 [GRCh38]
Chr6:39876879 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.419-3C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002995394] |
Chr6:39916235 [GRCh38]
Chr6:39883979 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1891G>A (p.Gly631Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002904359] |
Chr6:39906377 [GRCh38]
Chr6:39874153 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.151C>T (p.Arg51Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002616434] |
Chr6:39927428 [GRCh38]
Chr6:39895167 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.982-763_1036del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003034364] |
Chr6:39909901..39910718 [GRCh38]
Chr6:39877645..39878462 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.484del (p.Arg162fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002908766] |
Chr6:39916167 [GRCh38]
Chr6:39883911 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1461G>A (p.Ser487=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002750406] |
Chr6:39906807 [GRCh38]
Chr6:39874583 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.336G>C (p.Arg112=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003033644] |
Chr6:39925760 [GRCh38]
Chr6:39893504 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1868T>C (p.Ile623Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002996747] |
Chr6:39906400 [GRCh38]
Chr6:39874176 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1677G>C (p.Leu559=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003017022] |
Chr6:39906591 [GRCh38]
Chr6:39874367 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-96G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002778728]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005036553] |
Chr6:39927551 [GRCh38]
Chr6:39895290 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1333T>C (p.Phe445Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003017290] |
Chr6:39906935 [GRCh38]
Chr6:39874711 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1761C>T (p.Thr587=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002927851] |
Chr6:39906507 [GRCh38]
Chr6:39874283 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.607A>G (p.Ile203Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002823820] |
Chr6:39913812 [GRCh38]
Chr6:39881556 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1780C>G (p.Leu594Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002736044]|not provided [RCV004809854] |
Chr6:39906488 [GRCh38]
Chr6:39874264 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1150G>T (p.Glu384Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002825536] |
Chr6:39909055 [GRCh38]
Chr6:39876831 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1745G>A (p.Arg582Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002736632] |
Chr6:39906523 [GRCh38]
Chr6:39874299 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1357G>A (p.Ala453Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003021886] |
Chr6:39906911 [GRCh38]
Chr6:39874687 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1617T>C (p.Ala539=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003021665] |
Chr6:39906651 [GRCh38]
Chr6:39874427 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1764G>A (p.Gly588=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002952407] |
Chr6:39906504 [GRCh38]
Chr6:39874280 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1752G>C (p.Arg584=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002736029] |
Chr6:39906516 [GRCh38]
Chr6:39874292 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1198T>G (p.Phe400Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003000065] |
Chr6:39907070 [GRCh38]
Chr6:39874846 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1425C>T (p.Pro475=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003018869] |
Chr6:39906843 [GRCh38]
Chr6:39874619 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1548G>A (p.Pro516=) |
single nucleotide variant |
MOCS1-related disorder [RCV003903769]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002736756] |
Chr6:39906720 [GRCh38]
Chr6:39874496 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.277G>A (p.Val93Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002949295] |
Chr6:39925819 [GRCh38]
Chr6:39893563 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.945C>T (p.Cys315=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003035936] |
Chr6:39912300 [GRCh38]
Chr6:39880044 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1894G>A (p.Asp632Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003019054] |
Chr6:39906374 [GRCh38]
Chr6:39874150 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-118G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002924333]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005036588]|not specified [RCV003388165] |
Chr6:39927573 [GRCh38]
Chr6:39895312 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.391A>C (p.Ile131Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002705507] |
Chr6:39925705 [GRCh38]
Chr6:39893449 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1507G>A (p.Glu503Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003000184] |
Chr6:39906761 [GRCh38]
Chr6:39874537 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1256A>T (p.Gln419Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003037845] |
Chr6:39907012 [GRCh38]
Chr6:39874788 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.277G>T (p.Val93Phe) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003052814] |
Chr6:39925819 [GRCh38]
Chr6:39893563 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.731G>A (p.Arg244His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002781499] |
Chr6:39913343 [GRCh38]
Chr6:39881087 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.645+8C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002781432] |
Chr6:39913766 [GRCh38]
Chr6:39881510 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.758-8G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002979123] |
Chr6:39913012 [GRCh38]
Chr6:39880756 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1103-19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002735945] |
Chr6:39909121 [GRCh38]
Chr6:39876897 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.248G>A (p.Arg83Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002823778] |
Chr6:39927331 [GRCh38]
Chr6:39895070 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.250+5G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002926988] |
Chr6:39927324 [GRCh38]
Chr6:39895063 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.158A>G (p.His53Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002926992] |
Chr6:39927421 [GRCh38]
Chr6:39895160 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.418+9G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002795465] |
Chr6:39925669 [GRCh38]
Chr6:39893413 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1160dup (p.Leu387fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002889383] |
Chr6:39907107..39907108 [GRCh38]
Chr6:39874883..39874884 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1879GGT[3] (p.Gly628_Gln629insGly) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003021631] |
Chr6:39906383..39906384 [GRCh38]
Chr6:39874159..39874160 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.152G>A (p.Arg51Gln) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002619402] |
Chr6:39927427 [GRCh38]
Chr6:39895166 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.791A>G (p.Tyr264Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002796364] |
Chr6:39912971 [GRCh38]
Chr6:39880715 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.137G>C (p.Arg46Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002824006] |
Chr6:39927442 [GRCh38]
Chr6:39895181 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1204T>G (p.Trp402Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002736707] |
Chr6:39907064 [GRCh38]
Chr6:39874840 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.939G>C (p.Gly313=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003022347] |
Chr6:39912306 [GRCh38]
Chr6:39880050 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.30G>A (p.Leu10=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002875536] |
Chr6:39934388 [GRCh38]
Chr6:39902127 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1506A>G (p.Thr502=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003043650] |
Chr6:39906762 [GRCh38]
Chr6:39874538 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1151-12C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002851984] |
Chr6:39907129 [GRCh38]
Chr6:39874905 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1817A>G (p.Asp606Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002932540] |
Chr6:39906451 [GRCh38]
Chr6:39874227 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1446_1449dup (p.His484fs) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003042188] |
Chr6:39906818..39906819 [GRCh38]
Chr6:39874594..39874595 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1460C>T (p.Ser487Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002765526] |
Chr6:39906808 [GRCh38]
Chr6:39874584 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1594G>T (p.Ala532Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002917528] |
Chr6:39906674 [GRCh38]
Chr6:39874450 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.762C>G (p.Asn254Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003057981] |
Chr6:39913000 [GRCh38]
Chr6:39880744 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.646G>T (p.Val216Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002851231] |
Chr6:39913428 [GRCh38]
Chr6:39881172 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.133A>G (p.Arg45Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002594493] |
Chr6:39927446 [GRCh38]
Chr6:39895185 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1750C>T (p.Arg584Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002741593] |
Chr6:39906518 [GRCh38]
Chr6:39874294 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.870+17G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002917231] |
Chr6:39912875 [GRCh38]
Chr6:39880619 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1102+20G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002852068] |
Chr6:39909815 [GRCh38]
Chr6:39877559 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1253G>C (p.Ser418Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003057638] |
Chr6:39907015 [GRCh38]
Chr6:39874791 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1609C>T (p.Gln537Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003005514] |
Chr6:39906659 [GRCh38]
Chr6:39874435 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1746G>C (p.Arg582=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003041491] |
Chr6:39906522 [GRCh38]
Chr6:39874298 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.757+5G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003005120] |
Chr6:39913312 [GRCh38]
Chr6:39881056 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1907C>T (p.Ala636Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003007752] |
Chr6:39906361 [GRCh38]
Chr6:39874137 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1097A>G (p.His366Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003083772] |
Chr6:39909840 [GRCh38]
Chr6:39877584 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.840G>A (p.Lys280=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002918428] |
Chr6:39912922 [GRCh38]
Chr6:39880666 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1343A>G (p.His448Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003004974] |
Chr6:39906925 [GRCh38]
Chr6:39874701 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.109C>T (p.Arg37Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002852531] |
Chr6:39934309 [GRCh38]
Chr6:39902048 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.524T>A (p.Ile175Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003059392] |
Chr6:39916127 [GRCh38]
Chr6:39883871 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.418+9G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002712038] |
Chr6:39925669 [GRCh38]
Chr6:39893413 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.219G>T (p.Arg73=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002667203] |
Chr6:39927360 [GRCh38]
Chr6:39895099 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1669G>A (p.Val557Met) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002741336] |
Chr6:39906599 [GRCh38]
Chr6:39874375 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1815T>C (p.Tyr605=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002853144] |
Chr6:39906453 [GRCh38]
Chr6:39874229 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.116C>T (p.Ala39Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003084765] |
Chr6:39934302 [GRCh38]
Chr6:39902041 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1103-13T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003084459] |
Chr6:39909115 [GRCh38]
Chr6:39876891 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1888C>T (p.Arg630Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002741107] |
Chr6:39906380 [GRCh38]
Chr6:39874156 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1530C>T (p.Ala510=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002741113] |
Chr6:39906738 [GRCh38]
Chr6:39874514 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1511G>T (p.Arg504Leu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002967126] |
Chr6:39906757 [GRCh38]
Chr6:39874533 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1508A>G (p.Glu503Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003066004] |
Chr6:39906760 [GRCh38]
Chr6:39874536 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.965C>G (p.Ala322Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002629352] |
Chr6:39912280 [GRCh38]
Chr6:39880024 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1242G>T (p.Met414Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003008520] |
Chr6:39907026 [GRCh38]
Chr6:39874802 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1332del (p.Gln446fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002835112] |
Chr6:39906936 [GRCh38]
Chr6:39874712 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.929A>C (p.His310Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003009669] |
Chr6:39912316 [GRCh38]
Chr6:39880060 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-1G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002834075] |
Chr6:39927456 [GRCh38]
Chr6:39895195 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.622G>A (p.Glu208Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002579354] |
Chr6:39913797 [GRCh38]
Chr6:39881541 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.594G>A (p.Lys198=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003046792] |
Chr6:39913825 [GRCh38]
Chr6:39881569 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.293A>T (p.Lys98Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002578282] |
Chr6:39925803 [GRCh38]
Chr6:39893547 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1657C>T (p.Leu553=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002746451] |
Chr6:39906611 [GRCh38]
Chr6:39874387 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.238T>G (p.Cys80Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003060037] |
Chr6:39927341 [GRCh38]
Chr6:39895080 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.432G>A (p.Arg144=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003046008] |
Chr6:39916219 [GRCh38]
Chr6:39883963 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1510C>T (p.Arg504Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002938098] |
Chr6:39906758 [GRCh38]
Chr6:39874534 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.123+3G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003089854] |
Chr6:39934292 [GRCh38]
Chr6:39902031 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1278A>T (p.Gly426=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003030069] |
Chr6:39906990 [GRCh38]
Chr6:39874766 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.303G>A (p.Leu101=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002578067] |
Chr6:39925793 [GRCh38]
Chr6:39893537 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.331G>T (p.Ala111Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003047998] |
Chr6:39925765 [GRCh38]
Chr6:39893509 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1790C>T (p.Ala597Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002811464] |
Chr6:39906478 [GRCh38]
Chr6:39874254 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.478C>T (p.Leu160=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002580182] |
Chr6:39916173 [GRCh38]
Chr6:39883917 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1852GAG[1] (p.Glu619del) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002746234] |
Chr6:39906411..39906413 [GRCh38]
Chr6:39874187..39874189 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.419-16del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003045120] |
Chr6:39916248 [GRCh38]
Chr6:39883992 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.1103-19del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003060912] |
Chr6:39909121 [GRCh38]
Chr6:39876897 [GRCh37]
Chr6:6p21.2 |
benign |
| NM_001358530.2(MOCS1):c.1323G>A (p.Gly441=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002922185] |
Chr6:39906945 [GRCh38]
Chr6:39874721 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1589G>A (p.Gly530Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003048898] |
Chr6:39906679 [GRCh38]
Chr6:39874455 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.419-20C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002631326] |
Chr6:39916252 [GRCh38]
Chr6:39883996 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.969T>C (p.Asp323=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002715508] |
Chr6:39912276 [GRCh38]
Chr6:39880020 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1081A>G (p.Arg361Gly) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002605605] |
Chr6:39909856 [GRCh38]
Chr6:39877600 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.123+6C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002723087]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003111666] |
Chr6:39934289 [GRCh38]
Chr6:39902028 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.21C>T (p.Ser7=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002604963] |
Chr6:39934397 [GRCh38]
Chr6:39902136 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-19C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002588925] |
Chr6:39925864 [GRCh38]
Chr6:39893608 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.36G>C (p.Arg12=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002652952] |
Chr6:39934382 [GRCh38]
Chr6:39902121 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1374C>T (p.Asn458=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002942403] |
Chr6:39906894 [GRCh38]
Chr6:39874670 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.720C>G (p.Pro240=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003072756] |
Chr6:39913354 [GRCh38]
Chr6:39881098 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.690G>A (p.Leu230=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003052534] |
Chr6:39913384 [GRCh38]
Chr6:39881128 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.148C>T (p.Leu50=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002608807] |
Chr6:39927431 [GRCh38]
Chr6:39895170 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.124-4G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002586524] |
Chr6:39927459 [GRCh38]
Chr6:39895198 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.656T>C (p.Val219Ala) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002611264] |
Chr6:39913418 [GRCh38]
Chr6:39881162 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.263T>G (p.Met88Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002603672] |
Chr6:39925833 [GRCh38]
Chr6:39893577 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.950G>A (p.Arg317His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003070088] |
Chr6:39912295 [GRCh38]
Chr6:39880039 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1102+6T>C |
single nucleotide variant |
not specified [RCV003155720] |
Chr6:39909829 [GRCh38]
Chr6:39877573 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1183_1186del (p.Ala395fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003337720] |
Chr6:39907082..39907085 [GRCh38]
Chr6:39874858..39874861 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-74C>A |
single nucleotide variant |
not provided [RCV003327169] |
Chr6:39927529 [GRCh38]
Chr6:39895268 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.377G>T (p.Gly126Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003340775] |
Chr6:39925719 [GRCh38]
Chr6:39893463 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1211del (p.Pro404fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003338031] |
Chr6:39907057 [GRCh38]
Chr6:39874833 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.664C>T (p.Arg222Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003461872]|not provided [RCV005220719] |
Chr6:39913410 [GRCh38]
Chr6:39881154 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.776del (p.Lys259fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003875053] |
Chr6:39912986 [GRCh38]
Chr6:39880730 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs) |
duplication |
not specified [RCV003479981] |
Chr6:39906408..39906409 [GRCh38]
Chr6:39874184..39874185 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1 |
copy number loss |
not provided [RCV003485510] |
Chr6:35562152..42003452 [GRCh37]
Chr6:6p21.31-21.1 |
pathogenic |
| GRCh37/hg19 6p21.2(chr6:39054113-40272338)x3 |
copy number gain |
not provided [RCV003484641] |
Chr6:39054113..40272338 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1027C>T (p.Arg343Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470159] |
Chr6:39909910 [GRCh38]
Chr6:39877654 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.255_264delinsTCCTT (p.Gln85fs) |
indel |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470161] |
Chr6:39925832..39925841 [GRCh38]
Chr6:39893576..39893585 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.871-1G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470162] |
Chr6:39912375 [GRCh38]
Chr6:39880119 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.601G>T (p.Glu201Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470163] |
Chr6:39913818 [GRCh38]
Chr6:39881562 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.278dup (p.Leu95fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470165] |
Chr6:39925817..39925818 [GRCh38]
Chr6:39893561..39893562 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.971G>A (p.Gly324Glu) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004789706] |
Chr6:39912274 [GRCh38]
Chr6:39880018 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs) |
duplication |
MOCS1-related disorder [RCV003397845]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003466075] |
Chr6:39925786..39925787 [GRCh38]
Chr6:39893530..39893531 [GRCh37]
Chr6:6p21.2 |
pathogenic|likely pathogenic |
| NM_001358530.2(MOCS1):c.1590A>C (p.Gly530=) |
single nucleotide variant |
not provided [RCV003431843] |
Chr6:39906678 [GRCh38]
Chr6:39874454 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.250+7C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507589] |
Chr6:39927322 [GRCh38]
Chr6:39895061 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1881T>G (p.Gly627=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507637] |
Chr6:39906387 [GRCh38]
Chr6:39874163 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.414T>C (p.Ile138=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507534] |
Chr6:39925682 [GRCh38]
Chr6:39893426 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.387G>A (p.Pro129=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508281] |
Chr6:39925709 [GRCh38]
Chr6:39893453 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.255G>A (p.Gln85=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507695] |
Chr6:39925841 [GRCh38]
Chr6:39893585 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.288C>G (p.Thr96=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003882015] |
Chr6:39925808 [GRCh38]
Chr6:39893552 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.975C>T (p.Asn325=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507968] |
Chr6:39912270 [GRCh38]
Chr6:39880014 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.21C>G (p.Ser7=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507182] |
Chr6:39934397 [GRCh38]
Chr6:39902136 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.870+1G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508942] |
Chr6:39912891 [GRCh38]
Chr6:39880635 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.63C>T (p.Cys21=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508183] |
Chr6:39934355 [GRCh38]
Chr6:39902094 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.909C>T (p.Phe303=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003506787] |
Chr6:39912336 [GRCh38]
Chr6:39880080 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1102+14G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508274] |
Chr6:39909821 [GRCh38]
Chr6:39877565 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1290C>G (p.Pro430=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508314] |
Chr6:39906978 [GRCh38]
Chr6:39874754 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1848G>T (p.Val616=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507621] |
Chr6:39906420 [GRCh38]
Chr6:39874196 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+20T>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507697] |
Chr6:39925658 [GRCh38]
Chr6:39893402 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.669C>T (p.Gly223=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508610] |
Chr6:39913405 [GRCh38]
Chr6:39881149 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+11G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508367] |
Chr6:39913763 [GRCh38]
Chr6:39881507 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.8C>T (p.Ala3Val) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003506882] |
Chr6:39934410 [GRCh38]
Chr6:39902149 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1338_1341dup (p.His448fs) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507211] |
Chr6:39906926..39906927 [GRCh38]
Chr6:39874702..39874703 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1451_1452del (p.His484fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508946] |
Chr6:39906816..39906817 [GRCh38]
Chr6:39874592..39874593 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.124-6T>G |
single nucleotide variant |
Inborn genetic diseases [RCV004636777]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508968] |
Chr6:39927461 [GRCh38]
Chr6:39895200 [GRCh37]
Chr6:6p21.2 |
likely benign|uncertain significance |
| NM_001358530.2(MOCS1):c.609C>T (p.Ile203=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507227] |
Chr6:39913810 [GRCh38]
Chr6:39881554 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1299T>C (p.Pro433=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508774] |
Chr6:39906969 [GRCh38]
Chr6:39874745 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1150+10C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003507970] |
Chr6:39909045 [GRCh38]
Chr6:39876821 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.455del (p.Gly152fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508171] |
Chr6:39916196 [GRCh38]
Chr6:39883940 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1103-17T>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508177] |
Chr6:39909119 [GRCh38]
Chr6:39876895 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.982-4G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508048] |
Chr6:39909959 [GRCh38]
Chr6:39877703 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.925G>T (p.Glu309Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508087] |
Chr6:39912320 [GRCh38]
Chr6:39880064 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.609C>A (p.Ile203=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003508133] |
Chr6:39913810 [GRCh38]
Chr6:39881554 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1185C>A (p.Ala395=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005170620] |
Chr6:39907083 [GRCh38]
Chr6:39874859 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1103-37_1103-19dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003812126] |
Chr6:39909120..39909121 [GRCh38]
Chr6:39876896..39876897 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.106del (p.Ala36fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616621] |
Chr6:39934312 [GRCh38]
Chr6:39902051 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1054C>T (p.Leu352=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616920] |
Chr6:39909883 [GRCh38]
Chr6:39877627 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.577_583+6del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616957] |
Chr6:39916062..39916074 [GRCh38]
Chr6:39883806..39883818 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.342T>C (p.Phe114=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617237] |
Chr6:39925754 [GRCh38]
Chr6:39893498 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1785C>G (p.Thr595=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616217] |
Chr6:39906483 [GRCh38]
Chr6:39874259 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1665C>T (p.His555=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616998] |
Chr6:39906603 [GRCh38]
Chr6:39874379 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.304C>T (p.Leu102=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617022] |
Chr6:39925792 [GRCh38]
Chr6:39893536 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.993del (p.Phe331fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616458] |
Chr6:39909944 [GRCh38]
Chr6:39877688 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.757+17G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616090] |
Chr6:39913300 [GRCh38]
Chr6:39881044 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.645+20G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617290] |
Chr6:39913754 [GRCh38]
Chr6:39881498 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.544del (p.Leu182fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616088] |
Chr6:39916107 [GRCh38]
Chr6:39883851 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1151-4G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616228] |
Chr6:39907121 [GRCh38]
Chr6:39874897 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.250+14C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616612] |
Chr6:39927315 [GRCh38]
Chr6:39895054 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1103-4C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616633] |
Chr6:39909106 [GRCh38]
Chr6:39876882 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.750del (p.Phe251fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616768] |
Chr6:39913324 [GRCh38]
Chr6:39881068 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.142C>T (p.Gln48Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616777] |
Chr6:39927437 [GRCh38]
Chr6:39895176 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.982-1G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616932] |
Chr6:39909956 [GRCh38]
Chr6:39877700 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.1650G>A (p.Leu550=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617019] |
Chr6:39906618 [GRCh38]
Chr6:39874394 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1854G>A (p.Glu618=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617049] |
Chr6:39906414 [GRCh38]
Chr6:39874190 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1150+19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617062] |
Chr6:39909036 [GRCh38]
Chr6:39876812 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1050G>A (p.Glu350=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003615786] |
Chr6:39909887 [GRCh38]
Chr6:39877631 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.108G>C (p.Ala36=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003814711] |
Chr6:39934310 [GRCh38]
Chr6:39902049 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1501_1504del (p.Asp501fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616150] |
Chr6:39906764..39906767 [GRCh38]
Chr6:39874540..39874543 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.421C>T (p.Gln141Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616549] |
Chr6:39916230 [GRCh38]
Chr6:39883974 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1340_1341del (p.Arg447fs) |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616606] |
Chr6:39906927..39906928 [GRCh38]
Chr6:39874703..39874704 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.277del (p.Val93fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616686] |
Chr6:39925819 [GRCh38]
Chr6:39893563 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1308C>T (p.Ala436=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617038] |
Chr6:39906960 [GRCh38]
Chr6:39874736 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.419-13G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003615749] |
Chr6:39916245 [GRCh38]
Chr6:39883989 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.981+19_981+27del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003814595] |
Chr6:39912237..39912245 [GRCh38]
Chr6:39879981..39879989 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.802C>T (p.Leu268=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616186] |
Chr6:39912960 [GRCh38]
Chr6:39880704 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1276G>T (p.Gly426Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616936] |
Chr6:39906992 [GRCh38]
Chr6:39874768 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.519del (p.Ser173fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616949] |
Chr6:39916132 [GRCh38]
Chr6:39883876 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1206G>A (p.Trp402Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616611] |
Chr6:39907062 [GRCh38]
Chr6:39874838 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1182A>G (p.Pro394=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616701] |
Chr6:39907086 [GRCh38]
Chr6:39874862 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.22C>T (p.Arg8Trp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617055]|not provided [RCV004775475] |
Chr6:39934396 [GRCh38]
Chr6:39902135 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.12:g.39907116CT[1] |
microsatellite |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617086] |
Chr6:39907116..39907117 [GRCh38]
Chr6:39874892..39874893 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1170del (p.Asn391fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616788] |
Chr6:39907098 [GRCh38]
Chr6:39874874 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1275del (p.Gly426fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003617015] |
Chr6:39906993 [GRCh38]
Chr6:39874769 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.720C>A (p.Pro240=) |
single nucleotide variant |
MOCS1-related disorder [RCV003981117]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003615785] |
Chr6:39913354 [GRCh38]
Chr6:39881098 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1414C>T (p.Pro472Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003616074] |
Chr6:39906854 [GRCh38]
Chr6:39874630 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.414T>A (p.Ile138=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003865953] |
Chr6:39925682 [GRCh38]
Chr6:39893426 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+19A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003820619] |
Chr6:39925659 [GRCh38]
Chr6:39893403 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.758-16C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003821431] |
Chr6:39913020 [GRCh38]
Chr6:39880764 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.333C>T (p.Ala111=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003866782] |
Chr6:39925763 [GRCh38]
Chr6:39893507 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.981+12C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003824363] |
Chr6:39912252 [GRCh38]
Chr6:39879996 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.55C>T (p.Arg19Trp) |
single nucleotide variant |
MOCS1-related disorder [RCV003969789] |
Chr6:39934363 [GRCh38]
Chr6:39902102 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-124_124-123del |
deletion |
Combined molybdoflavoprotein enzyme deficiency [RCV003988475]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005038641] |
Chr6:39927578..39927579 [GRCh38]
Chr6:39895317..39895318 [GRCh37]
Chr6:6p21.2 |
likely pathogenic|uncertain significance |
| NM_001358530.2(MOCS1):c.1805T>C (p.Leu602Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003988987] |
Chr6:39906463 [GRCh38]
Chr6:39874239 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1338del (p.Arg447fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004555145] |
Chr6:39906930 [GRCh38]
Chr6:39874706 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.124-31C>A |
single nucleotide variant |
MOCS1-related disorder [RCV003984762] |
Chr6:39927486 [GRCh38]
Chr6:39895225 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-42G>A |
single nucleotide variant |
Inborn genetic diseases [RCV004478265] |
Chr6:39927497 [GRCh38]
Chr6:39895236 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.305T>C (p.Leu102Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004643286] |
Chr6:39925791 [GRCh38]
Chr6:39893535 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.439G>C (p.Gly147Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004643287] |
Chr6:39916212 [GRCh38]
Chr6:39883956 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.970G>T (p.Gly324Trp) |
single nucleotide variant |
not provided [RCV004592250] |
Chr6:39912275 [GRCh38]
Chr6:39880019 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.770A>C (p.Asn257Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004643285] |
Chr6:39912992 [GRCh38]
Chr6:39880736 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NC_000006.11:g.(?_39881498)_(39883996_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004578652] |
Chr6:39881498..39883996 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NC_000006.11:g.(?_39893548)_(39895439_?)del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004578653] |
Chr6:39893548..39895439 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.252_256delinsG (p.Cys84fs) |
indel |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004576198] |
Chr6:39925840..39925844 [GRCh38]
Chr6:39893584..39893588 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.124-32del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004576199] |
Chr6:39927487 [GRCh38]
Chr6:39895226 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.427C>T (p.Gln143Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004576200] |
Chr6:39916224 [GRCh38]
Chr6:39883968 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.1004dup (p.Val336fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004576201] |
Chr6:39909932..39909933 [GRCh38]
Chr6:39877676..39877677 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.768G>A (p.Trp256Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004576202] |
Chr6:39912994 [GRCh38]
Chr6:39880738 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NC_000006.11:g.(?_39902014)_(39902156_?)del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004578650] |
Chr6:39902014..39902156 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NC_000006.11:g.(?_39893402)_(39895317_?)dup |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004578651] |
Chr6:39893402..39895317 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.1318C>T (p.Leu440=) |
single nucleotide variant |
MOCS1-related disorder [RCV004741936] |
Chr6:39906950 [GRCh38]
Chr6:39874726 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-43C>T |
single nucleotide variant |
MOCS1-related disorder [RCV004743020] |
Chr6:39927498 [GRCh38]
Chr6:39895237 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.200G>C (p.Arg67Pro) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV004764842] |
Chr6:39927379 [GRCh38]
Chr6:39895118 [GRCh37]
Chr6:6p21.2 |
likely pathogenic|uncertain significance |
| NM_001358530.2(MOCS1):c.1831G>A (p.Val611Ile) |
single nucleotide variant |
MOCS1-related disorder [RCV004743705] |
Chr6:39906437 [GRCh38]
Chr6:39874213 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.502C>T (p.Gln168Ter) |
single nucleotide variant |
Combined molybdoflavoprotein enzyme deficiency [RCV004703061] |
Chr6:39916149 [GRCh38]
Chr6:39883893 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.211T>C (p.Tyr71His) |
single nucleotide variant |
Inborn genetic diseases [RCV004956581] |
Chr6:39927368 [GRCh38]
Chr6:39895107 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.205C>T (p.His69Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004952292] |
Chr6:39927374 [GRCh38]
Chr6:39895113 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-63C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045681] |
Chr6:39927518 [GRCh38]
Chr6:39895257 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1122G>C (p.Gln374His) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045677] |
Chr6:39909083 [GRCh38]
Chr6:39876859 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.809C>T (p.Thr270Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045679] |
Chr6:39912953 [GRCh38]
Chr6:39880697 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.418+20T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005175902] |
Chr6:39925658 [GRCh38]
Chr6:39893402 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.126G>A (p.Glu42=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005144969] |
Chr6:39927453 [GRCh38]
Chr6:39895192 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1428G>A (p.Gln476=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005171179] |
Chr6:39906840 [GRCh38]
Chr6:39874616 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.994G>T (p.Gly332Ter) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039741] |
Chr6:39909943 [GRCh38]
Chr6:39877687 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.711G>C (p.Glu237Asp) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039742] |
Chr6:39913363 [GRCh38]
Chr6:39881107 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.676G>A (p.Glu226Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039743] |
Chr6:39913398 [GRCh38]
Chr6:39881142 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.652T>C (p.Cys218Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039744] |
Chr6:39913422 [GRCh38]
Chr6:39881166 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.635A>G (p.Asn212Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039745] |
Chr6:39913784 [GRCh38]
Chr6:39881528 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.605_606delinsCT (p.Gly202Ala) |
indel |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039746] |
Chr6:39913813..39913814 [GRCh38]
Chr6:39881557..39881558 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.397C>T (p.Pro133Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039747] |
Chr6:39925699 [GRCh38]
Chr6:39893443 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.376G>A (p.Gly126Ser) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039748] |
Chr6:39925720 [GRCh38]
Chr6:39893464 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.948C>T (p.Asn316=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005060681] |
Chr6:39912297 [GRCh38]
Chr6:39880041 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.367del (p.Arg123fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005088261] |
Chr6:39925729 [GRCh38]
Chr6:39893473 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.123+20G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005173199] |
Chr6:39934275 [GRCh38]
Chr6:39902014 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1881T>C (p.Gly627=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005171269] |
Chr6:39906387 [GRCh38]
Chr6:39874163 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.347A>G (p.Lys116Arg) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039749] |
Chr6:39925749 [GRCh38]
Chr6:39893493 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.301del (p.Leu101fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039750] |
Chr6:39925795 [GRCh38]
Chr6:39893539 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.265C>G (p.Pro89Ala) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039751] |
Chr6:39925831 [GRCh38]
Chr6:39893575 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-42G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039754] |
Chr6:39927497 [GRCh38]
Chr6:39895236 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-71G>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039756] |
Chr6:39927526 [GRCh38]
Chr6:39895265 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1151-20C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005172883] |
Chr6:39907137 [GRCh38]
Chr6:39874913 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1112G>T (p.Ser371Ile) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039738] |
Chr6:39909093 [GRCh38]
Chr6:39876869 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1036G>A (p.Ala346Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039739] |
Chr6:39909901 [GRCh38]
Chr6:39877645 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1158T>C (p.Phe386=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005145590] |
Chr6:39907110 [GRCh38]
Chr6:39874886 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1716C>T (p.Arg572=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005170837] |
Chr6:39906552 [GRCh38]
Chr6:39874328 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.263T>A (p.Met88Lys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039752] |
Chr6:39925833 [GRCh38]
Chr6:39893577 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-47A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039755] |
Chr6:39927502 [GRCh38]
Chr6:39895241 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-84A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039757] |
Chr6:39927539 [GRCh38]
Chr6:39895278 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-99A>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039758] |
Chr6:39927554 [GRCh38]
Chr6:39895293 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-101G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039759] |
Chr6:39927556 [GRCh38]
Chr6:39895295 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.124-122_124-121insA |
insertion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005039760] |
Chr6:39927576..39927577 [GRCh38]
Chr6:39895315..39895316 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.1797G>A (p.Val599=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005115578] |
Chr6:39906471 [GRCh38]
Chr6:39874247 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1407T>C (p.Ser469=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005177505] |
Chr6:39906861 [GRCh38]
Chr6:39874637 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1692G>A (p.Val564=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005164817] |
Chr6:39906576 [GRCh38]
Chr6:39874352 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+13C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005191735] |
Chr6:39934282 [GRCh38]
Chr6:39902021 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1230A>G (p.Leu410=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005118206] |
Chr6:39907038 [GRCh38]
Chr6:39874814 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.596_616del (p.Val199_Lys205del) |
deletion |
not specified [RCV005238466] |
Chr6:39913803..39913823 [GRCh38]
Chr6:39881547..39881567 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.123+13C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005199405] |
Chr6:39934282 [GRCh38]
Chr6:39902021 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.646-8C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005120509] |
Chr6:39913436 [GRCh38]
Chr6:39881180 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-12C>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005122421] |
Chr6:39927467 [GRCh38]
Chr6:39895206 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.78G>T (p.Pro26=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005080062] |
Chr6:39934340 [GRCh38]
Chr6:39902079 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1755_1764del (p.Pro586fs) |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005247961] |
Chr6:39906504..39906513 [GRCh38]
Chr6:39874280..39874289 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.631dup (p.Tyr211fs) |
duplication |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005116526] |
Chr6:39913787..39913788 [GRCh38]
Chr6:39881531..39881532 [GRCh37]
Chr6:6p21.2 |
pathogenic |
| NM_001358530.2(MOCS1):c.1902T>C (p.His634=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005154879] |
Chr6:39906366 [GRCh38]
Chr6:39874142 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1845C>A (p.Ile615=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005123087] |
Chr6:39906423 [GRCh38]
Chr6:39874199 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.807C>T (p.Asp269=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005081734] |
Chr6:39912955 [GRCh38]
Chr6:39880699 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-11C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005077482] |
Chr6:39925856 [GRCh38]
Chr6:39893600 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.748C>G (p.Pro250Ala) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005153450] |
Chr6:39913326 [GRCh38]
Chr6:39881070 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1170C>T (p.Pro390=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005177794] |
Chr6:39907098 [GRCh38]
Chr6:39874874 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1347C>T (p.Tyr449=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005180082] |
Chr6:39906921 [GRCh38]
Chr6:39874697 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1452T>C (p.His484=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005178636] |
Chr6:39906816 [GRCh38]
Chr6:39874592 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-1G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005199692] |
Chr6:39927456 [GRCh38]
Chr6:39895195 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.123+19C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005157112] |
Chr6:39934276 [GRCh38]
Chr6:39902015 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.579G>A (p.Arg193=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005192027] |
Chr6:39916072 [GRCh38]
Chr6:39883816 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.584-9C>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005157979] |
Chr6:39913844 [GRCh38]
Chr6:39881588 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1488G>A (p.Val496=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005131315] |
Chr6:39906780 [GRCh38]
Chr6:39874556 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.48C>T (p.Ser16=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005120131] |
Chr6:39934370 [GRCh38]
Chr6:39902109 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1404T>G (p.Ala468=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005160180] |
Chr6:39906864 [GRCh38]
Chr6:39874640 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.757+19G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005083006] |
Chr6:39913298 [GRCh38]
Chr6:39881042 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1908T>G (p.Ala636=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005153977] |
Chr6:39906360 [GRCh38]
Chr6:39874136 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.251-18C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005203293] |
Chr6:39925863 [GRCh38]
Chr6:39893607 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.418+10A>G |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005179992] |
Chr6:39925668 [GRCh38]
Chr6:39893412 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005075270] |
Chr6:39934411 [GRCh38]
Chr6:39902150 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.583+5G>A |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005108706] |
Chr6:39916063 [GRCh38]
Chr6:39883807 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.879A>G (p.Lys293=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005129914] |
Chr6:39912366 [GRCh38]
Chr6:39880110 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.1103-1G>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005126481] |
Chr6:39909103 [GRCh38]
Chr6:39876879 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.741G>A (p.Glu247=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005182947] |
Chr6:39913333 [GRCh38]
Chr6:39881077 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.123+8C>T |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005205080] |
Chr6:39934287 [GRCh38]
Chr6:39902026 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.759C>A (p.Gly253=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005107390] |
Chr6:39913003 [GRCh38]
Chr6:39880747 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.297C>T (p.Ala99=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005152398] |
Chr6:39925799 [GRCh38]
Chr6:39893543 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.378T>C (p.Gly126=) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005197421] |
Chr6:39925718 [GRCh38]
Chr6:39893462 [GRCh37]
Chr6:6p21.2 |
likely benign |
| NM_001358530.2(MOCS1):c.124-123_124-122del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045682] |
Chr6:39927577..39927578 [GRCh38]
Chr6:39895316..39895317 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.124-43del |
deletion |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470160] |
Chr6:39927498 [GRCh38]
Chr6:39895237 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.124-26_124-25delinsA |
indel |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470164] |
Chr6:39927480..39927481 [GRCh38]
Chr6:39895219..39895220 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.949C>T (p.Arg317Cys) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003470166] |
Chr6:39912296 [GRCh38]
Chr6:39880040 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.124-39A>G |
single nucleotide variant |
Inborn genetic diseases [RCV004478319]|Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005038685] |
Chr6:39927494 [GRCh38]
Chr6:39895233 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
| NM_001358530.2(MOCS1):c.1150+21T>C |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045676] |
Chr6:39909034 [GRCh38]
Chr6:39876810 [GRCh37]
Chr6:6p21.2 |
likely pathogenic |
| NM_001358530.2(MOCS1):c.902T>A (p.Ile301Asn) |
single nucleotide variant |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV005045678] |
Chr6:39912343 [GRCh38]
Chr6:39880087 [GRCh37]
Chr6:6p21.2 |
uncertain significance |
