MOCS1 (molybdenum cofactor synthesis 1) - Rat Genome Database

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Gene: MOCS1 (molybdenum cofactor synthesis 1) Homo sapiens
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Symbol: MOCS1
Name: molybdenum cofactor synthesis 1
RGD ID: 1318258
HGNC Page HGNC:7190
Description: Enables 4 iron, 4 sulfur cluster binding activity; GTP 3',8'-cyclase activity; and cyclic pyranopterin monophosphate synthase activity. Involved in Mo-molybdopterin cofactor biosynthetic process. Located in cytosol. Implicated in molybdenum cofactor deficiency type A.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cell migration-inducing gene 11 protein; KIAA0381; MIG11; migration-inducing gene 11 protein; MOCOD; MOCODA; MOCS1A; MOCS1A enzyme; MOCS1B; molybdenum cofactor biosynthesis protein 1; molybdenum cofactor biosynthesis protein A; molybdenum cofactor synthesis-step 1 protein A-B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MOCS1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38639,904,170 - 39,934,462 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl639,899,578 - 39,934,551 (-)EnsemblGRCh38hg38GRCh38
GRCh37639,871,946 - 39,902,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36639,981,072 - 40,010,196 (-)NCBINCBI36Build 36hg18NCBI36
Celera641,425,262 - 41,455,518 (-)NCBICelera
Cytogenetic Map6p21.2NCBI
HuRef639,589,847 - 39,620,839 (-)NCBIHuRef
CHM1_1639,874,626 - 39,904,861 (-)NCBICHM1_1
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA,TAS)
mitochondrion  (HTP)
nucleus  (NAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cell biology of molybdenum. Mendel RR and Bittner F, Biochim Biophys Acta. 2006 Jul;1763(7):621-35. Epub 2006 May 12.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH. Reiss J and Johnson JL, Hum Mutat 2003 Jun;21(6):569-76.
5. Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. Reiss J, etal., Hum Genet. 1998 Dec;103(6):639-44.
6. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. Reiss J, etal., Nat Genet. 1998 Sep;20(1):51-3.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9634514   PMID:9812897   PMID:10053004   PMID:10327149   PMID:10917590   PMID:11891227   PMID:12208140   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15146197  
PMID:15180982   PMID:15489334   PMID:16021469   PMID:16429380   PMID:17065069   PMID:19544009   PMID:19793632   PMID:21031595   PMID:21285035   PMID:21873635   PMID:21988832   PMID:23122324  
PMID:26186194   PMID:26354767   PMID:26544196   PMID:27145839   PMID:28514442   PMID:29368224   PMID:30021884   PMID:31477743   PMID:31996372   PMID:33961781   PMID:34800366   PMID:34870926  
PMID:35474131   PMID:35563538   PMID:36880596   PMID:38334954   PMID:38389347  


Genomics

Comparative Map Data
MOCS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38639,904,170 - 39,934,462 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl639,899,578 - 39,934,551 (-)EnsemblGRCh38hg38GRCh38
GRCh37639,871,946 - 39,902,201 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36639,981,072 - 40,010,196 (-)NCBINCBI36Build 36hg18NCBI36
Celera641,425,262 - 41,455,518 (-)NCBICelera
Cytogenetic Map6p21.2NCBI
HuRef639,589,847 - 39,620,839 (-)NCBIHuRef
CHM1_1639,874,626 - 39,904,861 (-)NCBICHM1_1
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBIT2T-CHM13v2.0
Mocs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391749,735,378 - 49,762,463 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1749,735,390 - 49,762,463 (+)EnsemblGRCm39 Ensembl
GRCm381749,428,350 - 49,455,435 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1749,428,362 - 49,455,435 (+)EnsemblGRCm38mm10GRCm38
MGSCv371749,567,689 - 49,594,755 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361748,917,808 - 48,920,997 (+)NCBIMGSCv36mm8
Celera1752,857,373 - 52,876,826 (+)NCBICelera
Cytogenetic Map17CNCBI
cM Map1725.45NCBI
Mocs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8919,045,223 - 19,071,628 (-)NCBIGRCr8
mRatBN7.2911,547,533 - 11,573,935 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl911,547,531 - 11,567,790 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx920,050,514 - 20,070,761 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0925,116,683 - 25,136,930 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0923,500,264 - 23,520,999 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0913,493,705 - 13,513,972 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl913,493,709 - 13,513,960 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0912,426,594 - 12,452,999 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.496,759,531 - 6,779,930 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.196,760,110 - 7,013,161 (-)NCBI
Celera99,321,644 - 9,341,714 (-)NCBICelera
Cytogenetic Map9q12NCBI
Mocs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554376,840,451 - 6,870,685 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554376,840,451 - 6,870,685 (-)NCBIChiLan1.0ChiLan1.0
MOCS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2554,396,925 - 54,426,657 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1650,263,478 - 50,296,374 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0639,489,310 - 39,519,012 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1640,799,858 - 40,829,346 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl640,799,858 - 40,829,346 (-)Ensemblpanpan1.1panPan2
MOCS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1128,802,506 - 8,837,242 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl128,779,428 - 8,837,452 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha128,834,241 - 8,870,254 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0129,279,672 - 9,315,694 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl129,280,934 - 9,315,905 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1128,814,238 - 8,850,260 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0128,884,790 - 8,920,816 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0128,990,878 - 9,026,925 (-)NCBIUU_Cfam_GSD_1.0
Mocs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494644,189,065 - 44,217,172 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647619,743,024 - 19,775,300 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647619,743,052 - 19,771,132 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MOCS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl735,287,365 - 35,320,931 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1735,286,565 - 35,320,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2740,416,831 - 40,451,229 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MOCS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11732,224,211 - 32,252,244 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604439,897,722 - 39,927,070 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mocs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475418,492,073 - 18,524,755 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475418,491,970 - 18,524,741 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MOCS1
605 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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		 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 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
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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001253962]|not specified [RCV003387985] Chr6:39916220 [GRCh38]
Chr6:39883964 [GRCh37]
Chr6:6p21.2		 uncertain significance
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp) single nucleotide variant Intellectual disability [RCV001252077]|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] 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] 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|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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV001362070]|not specified [RCV004587141] Chr6:39916167 [GRCh38]
Chr6:39883911 [GRCh37]
Chr6:6p21.2		 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 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		 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|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] Chr6:39913767 [GRCh38]
Chr6:39881511 [GRCh37]
Chr6:6p21.2		 likely benign
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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002001875] Chr6:39934358 [GRCh38]
Chr6:39902097 [GRCh37]
Chr6:6p21.2		 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 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 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 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
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
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
NM_001358530.2(MOCS1):c.882C>A (p.Ile294=) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV002081503] 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		 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] 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] 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]|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		 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		 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		 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		 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		 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		 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		 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		 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.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.664C>T (p.Arg222Ter) single nucleotide variant Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A [RCV003461872] 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.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.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.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.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] Chr6:39927578..39927579 [GRCh38]
Chr6:39895317..39895318 [GRCh37]
Chr6:6p21.2		 likely pathogenic
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.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
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.124-39A>G single nucleotide variant Inborn genetic diseases [RCV004478319] Chr6:39927494 [GRCh38]
Chr6:39895233 [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.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.124-42G>A single nucleotide variant Inborn genetic diseases [RCV004478265] Chr6:39927497 [GRCh38]
Chr6:39895236 [GRCh37]
Chr6:6p21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7638
Count of miRNA genes:1114
Interacting mature miRNAs:1360
Transcripts:ENST00000308559, ENST00000340692, ENST00000373175, ENST00000373181, ENST00000373186, ENST00000373188, ENST00000373195, ENST00000425303, ENST00000432280, ENST00000473742, ENST00000487924
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407065939GWAS714915_Hretinal vasculature measurement QTL GWAS714915 (human)4e-20retina blood vessel morphology trait (VT:0002792)63992099039920991Human
1358839MULTSCL5_HMultiple sclerosis susceptibility QTL 5 (human)Multiple sclerosis susceptibility61958431145584311Human
406947698GWAS596674_Hsystemic mastocytosis QTL GWAS596674 (human)5e-08systemic mastocytosis63992752439927525Human
406947797GWAS596773_HMastocytosis QTL GWAS596773 (human)9e-08Mastocytosis63992752439927525Human
407046153GWAS695129_Hbody height QTL GWAS695129 (human)6e-10body height (VT:0001253)body height (CMO:0000106)63990655339906554Human
1298431RA11_HRheumatoid arthritis QTL 11 (human)0.0000024Joint/bone inflammationrheumatoid arthritis61991188340191709Human
406905932GWAS554908_Hcysteine s-sulfate measurement QTL GWAS554908 (human)3e-12cysteine s-sulfate measurement63993245139932452Human
1358857MULTSCL19_HMultiple sclerosis susceptibility QTL 19 (human)Multiple sclerosis susceptibility61958431145584311Human
407284091GWAS933067_Hbody height QTL GWAS933067 (human)5e-31body height (VT:0001253)body height (CMO:0000106)63990865739908658Human

Markers in Region
RH78586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,872,313 - 39,872,467UniSTSGRCh37
Build 36639,980,291 - 39,980,445RGDNCBI36
Celera641,425,541 - 41,425,695RGD
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p21.3UniSTS
HuRef639,590,126 - 39,590,284UniSTS
GeneMap99-GB4 RH Map6158.94UniSTS
RH15815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,873,124 - 39,873,309UniSTSGRCh37
Build 36639,981,102 - 39,981,287RGDNCBI36
Celera641,426,352 - 41,426,537RGD
Cytogenetic Map6p21.3UniSTS
HuRef639,590,941 - 39,591,126UniSTS
GeneMap99-GB4 RH Map6147.67UniSTS
NCBI RH Map6615.3UniSTS
DAAM2_3802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37639,871,948 - 39,872,817UniSTSGRCh37
Build 36639,979,926 - 39,980,795RGDNCBI36
Celera641,425,176 - 41,426,045RGD
HuRef639,589,761 - 39,590,634UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2400 2788 2234 4972 1726 2329 6 624 1767 462 2268 7115 6307 49 3734 1 852 1730 1598 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001075098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF034374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF214023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI122656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ224328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ293579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ404969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV724791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY423726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA944911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN267723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX787499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC377054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC410181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO393411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340692   ⟹   ENSP00000344794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,904,170 - 39,934,462 (-)Ensembl
Ensembl Acc Id: ENST00000373181   ⟹   ENSP00000362277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,899,578 - 39,932,432 (-)Ensembl
Ensembl Acc Id: ENST00000373188   ⟹   ENSP00000362284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,059 - 39,934,551 (-)Ensembl
Ensembl Acc Id: ENST00000373195   ⟹   ENSP00000362291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,321 - 39,934,497 (-)Ensembl
Ensembl Acc Id: ENST00000425303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,906,357 - 39,927,587 (-)Ensembl
Ensembl Acc Id: ENST00000432280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,909,047 - 39,927,578 (-)Ensembl
Ensembl Acc Id: ENST00000473742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,913,708 - 39,934,424 (-)Ensembl
Ensembl Acc Id: ENST00000487924   ⟹   ENSP00000418315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,904,170 - 39,934,459 (-)Ensembl
Ensembl Acc Id: ENST00000645522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,904,165 - 39,927,716 (-)Ensembl
Ensembl Acc Id: ENST00000713661   ⟹   ENSP00000518964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,330 - 39,934,486 (-)Ensembl
Ensembl Acc Id: ENST00000713662   ⟹   ENSP00000518965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,335 - 39,934,223 (-)Ensembl
Ensembl Acc Id: ENST00000713663   ⟹   ENSP00000518966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,340 - 39,934,474 (-)Ensembl
Ensembl Acc Id: ENST00000713664   ⟹   ENSP00000518967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,314 - 39,934,456 (-)Ensembl
Ensembl Acc Id: ENST00000713665   ⟹   ENSP00000518968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl639,905,530 - 39,934,462 (-)Ensembl
RefSeq Acc Id: NM_001075098   ⟹   NP_001068566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)ENTREZGENE
GRCh37639,872,034 - 39,902,290 (-)NCBI
Build 36639,981,072 - 40,010,196 (-)NCBI Archive
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,904,861 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358529   ⟹   NP_001345458
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358530   ⟹   NP_001345459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358531   ⟹   NP_001345460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358533   ⟹   NP_001345462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358534   ⟹   NP_001345463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,223 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,525 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005943   ⟹   NP_005934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,927,716 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)ENTREZGENE
GRCh37639,872,034 - 39,902,290 (-)NCBI
Build 36639,981,138 - 40,003,433 (-)NCBI Archive
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,898,027 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,755,018 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033233
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,462 (-)NCBI
GRCh37639,872,034 - 39,902,290 (-)NCBI
HuRef639,589,847 - 39,620,839 (-)ENTREZGENE
CHM1_1639,874,626 - 39,904,861 (-)NCBI
T2T-CHM13v2.0639,730,595 - 39,761,764 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418828   ⟹   XP_047274784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,904,170 - 39,934,223 (-)NCBI
RefSeq Acc Id: XM_054355510   ⟹   XP_054211485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0639,730,595 - 39,761,525 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001068566 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345458 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345459 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001345463 (Get FASTA)   NCBI Sequence Viewer  
  NP_005934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274784 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211485 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB87523 (Get FASTA)   NCBI Sequence Viewer  
  AAB87524 (Get FASTA)   NCBI Sequence Viewer  
  AAF67843 (Get FASTA)   NCBI Sequence Viewer  
  AAF67844 (Get FASTA)   NCBI Sequence Viewer  
  AAF67857 (Get FASTA)   NCBI Sequence Viewer  
  AAF67858 (Get FASTA)   NCBI Sequence Viewer  
  AAH36839 (Get FASTA)   NCBI Sequence Viewer  
  AAS00489 (Get FASTA)   NCBI Sequence Viewer  
  BAG51799 (Get FASTA)   NCBI Sequence Viewer  
  BAG62053 (Get FASTA)   NCBI Sequence Viewer  
  CAA11897 (Get FASTA)   NCBI Sequence Viewer  
  CAA11898 (Get FASTA)   NCBI Sequence Viewer  
  CAC44526 (Get FASTA)   NCBI Sequence Viewer  
  CAC44527 (Get FASTA)   NCBI Sequence Viewer  
  CAI20007 (Get FASTA)   NCBI Sequence Viewer  
  CAI20008 (Get FASTA)   NCBI Sequence Viewer  
  CAI20009 (Get FASTA)   NCBI Sequence Viewer  
  CAI20011 (Get FASTA)   NCBI Sequence Viewer  
  CAI20012 (Get FASTA)   NCBI Sequence Viewer  
  CAI20013 (Get FASTA)   NCBI Sequence Viewer  
  CAI20014 (Get FASTA)   NCBI Sequence Viewer  
  CAI20015 (Get FASTA)   NCBI Sequence Viewer  
  EAX03998 (Get FASTA)   NCBI Sequence Viewer  
  EAX03999 (Get FASTA)   NCBI Sequence Viewer  
  EAX04000 (Get FASTA)   NCBI Sequence Viewer  
  EAX04001 (Get FASTA)   NCBI Sequence Viewer  
  EAX04002 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344794
  ENSP00000344794.5
  ENSP00000362277.4
  ENSP00000362284
  ENSP00000362284.2
  ENSP00000362291
  ENSP00000362291.3
  ENSP00000418315.1
  ENSP00000518964
  ENSP00000518964.1
  ENSP00000518965
  ENSP00000518965.1
  ENSP00000518966.1
  ENSP00000518967.1
  ENSP00000518968.1
GenBank Protein Q9NZB8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001068566   ⟸   NM_001075098
- Peptide Label: isoform 4
- UniProtKB: A0AAQ5BGM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005934   ⟸   NM_005943
- Peptide Label: isoform 1
- UniProtKB: A0AAQ5BGM4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345460   ⟸   NM_001358531
- Peptide Label: isoform 8
- UniProtKB: A0AAQ5BGK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345462   ⟸   NM_001358533
- Peptide Label: isoform 9
- UniProtKB: A0AAQ5BGM5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345458   ⟸   NM_001358529
- Peptide Label: isoform 6
- UniProtKB: A0AAQ5BGK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345459   ⟸   NM_001358530
- Peptide Label: isoform 7
- UniProtKB: Q9NZB8 (UniProtKB/Swiss-Prot),   Q9NZB7 (UniProtKB/Swiss-Prot),   Q8N418 (UniProtKB/Swiss-Prot),   Q5TCF1 (UniProtKB/Swiss-Prot),   Q5TCF0 (UniProtKB/Swiss-Prot),   Q5TCE9 (UniProtKB/Swiss-Prot),   Q5TCE6 (UniProtKB/Swiss-Prot),   Q5TCE2 (UniProtKB/Swiss-Prot),   Q5TCE1 (UniProtKB/Swiss-Prot),   Q5J7W0 (UniProtKB/Swiss-Prot),   O75710 (UniProtKB/Swiss-Prot),   O14941 (UniProtKB/Swiss-Prot),   O14940 (UniProtKB/Swiss-Prot),   B4DTP1 (UniProtKB/Swiss-Prot),   B3KPT7 (UniProtKB/Swiss-Prot),   Q9UEM1 (UniProtKB/Swiss-Prot),   A0AAQ5BGK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345463   ⟸   NM_001358534
- Peptide Label: isoform 9
- UniProtKB: A0AAQ5BGM5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362291   ⟸   ENST00000373195
Ensembl Acc Id: ENSP00000362277   ⟸   ENST00000373181
Ensembl Acc Id: ENSP00000362284   ⟸   ENST00000373188
Ensembl Acc Id: ENSP00000344794   ⟸   ENST00000340692
Ensembl Acc Id: ENSP00000418315   ⟸   ENST00000487924
RefSeq Acc Id: XP_047274784   ⟸   XM_047418828
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211485   ⟸   XM_054355510
- Peptide Label: isoform X1
Ensembl Acc Id: ENSP00000518968   ⟸   ENST00000713665
Ensembl Acc Id: ENSP00000518964   ⟸   ENST00000713661
Ensembl Acc Id: ENSP00000518966   ⟸   ENST00000713663
Ensembl Acc Id: ENSP00000518965   ⟸   ENST00000713662
Ensembl Acc Id: ENSP00000518967   ⟸   ENST00000713664
Protein Domains
Molybdenum cofactor biosynthesis protein A-like   Radical SAM core

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZB8-F1-model_v2 AlphaFold Q9NZB8 1-636 view protein structure

Promoters
RGD ID:7207949
Promoter ID:EPDNEW_H9720
Type:initiation region
Name:MOCS1_1
Description:molybdenum cofactor synthesis 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38639,934,462 - 39,934,522EPDNEW
RGD ID:6804464
Promoter ID:HG_KWN:53484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000340692,   ENST00000341481,   ENST00000373181,   NM_001075098,   NR_033233
Position:
Human AssemblyChrPosition (strand)Source
Build 36640,009,876 - 40,010,376 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7190 AgrOrtholog
COSMIC MOCS1 COSMIC
Ensembl Genes ENSG00000124615 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340692 ENTREZGENE
  ENST00000340692.10 UniProtKB/Swiss-Prot
  ENST00000373181.8 UniProtKB/Swiss-Prot
  ENST00000373188 ENTREZGENE
  ENST00000373188.6 UniProtKB/Swiss-Prot
  ENST00000373195 ENTREZGENE
  ENST00000373195.7 UniProtKB/Swiss-Prot
  ENST00000487924 ENTREZGENE
  ENST00000487924.2 UniProtKB/TrEMBL
  ENST00000645522 ENTREZGENE
  ENST00000713661 ENTREZGENE
  ENST00000713661.1 UniProtKB/TrEMBL
  ENST00000713662 ENTREZGENE
  ENST00000713662.1 UniProtKB/TrEMBL
  ENST00000713663.1 UniProtKB/TrEMBL
  ENST00000713664.1 UniProtKB/TrEMBL
  ENST00000713665.1 UniProtKB/TrEMBL
Gene3D-CATH 3.20.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000124615 GTEx
HGNC ID HGNC:7190 ENTREZGENE
Human Proteome Map MOCS1 Human Proteome Map
InterPro Aldolase_TIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Elp3/MiaA/NifB-like_rSAM UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Mo_CF_biosynth-C UniProtKB/Swiss-Prot
  MoaA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaA_NifB_PqqE_Fe-S-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaC UniProtKB/TrEMBL
  MoaC_bact/euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mob_synth_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoCo_biosynth_MoaA/MoaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mopterin_CF_biosynth-C_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  rSAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4337 UniProtKB/Swiss-Prot
NCBI Gene 4337 ENTREZGENE
OMIM 603707 OMIM
PANTHER CYCLIC PYRANOPTERIN MONOPHOSPHATE SYNTHASE, MITOCHONDRIAL UniProtKB/TrEMBL
  MOLYBDENUM COFACTOR BIOSYNTHESIS PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOLYBDENUM COFACTOR BIOSYNTHESIS PROTEIN 1 UniProtKB/TrEMBL
  MOLYBDOPTERIN COFACTOR SYNTHESIS PROTEIN A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fer4_12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mob_synth_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Radical_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30900 PharmGKB
PROSITE MOAA_NIFB_PQQE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RADICAL_SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Elp3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Molybdenum cofactor biosynthesis protein C, MoaC UniProtKB/TrEMBL
  Radical SAM enzymes UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55040 UniProtKB/Swiss-Prot
UniProt A0AAQ5BGK8 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGL9_HUMAN UniProtKB/TrEMBL
  A0AAQ5BGM4 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGM5 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BGP5_HUMAN UniProtKB/TrEMBL
  B3KPT7 ENTREZGENE
  B4DTP1 ENTREZGENE
  F8WCK1_HUMAN UniProtKB/TrEMBL
  MOCS1_HUMAN UniProtKB/Swiss-Prot
  O14940 ENTREZGENE
  O14941 ENTREZGENE
  O75710 ENTREZGENE
  Q5J7W0 ENTREZGENE
  Q5TCE1 ENTREZGENE
  Q5TCE2 ENTREZGENE
  Q5TCE4_HUMAN UniProtKB/TrEMBL
  Q5TCE5_HUMAN UniProtKB/TrEMBL
  Q5TCE6 ENTREZGENE
  Q5TCE9 ENTREZGENE
  Q5TCF0 ENTREZGENE
  Q5TCF1 ENTREZGENE
  Q8N418 ENTREZGENE
  Q9NP26_HUMAN UniProtKB/TrEMBL
  Q9NP27_HUMAN UniProtKB/TrEMBL
  Q9NZB7 ENTREZGENE
  Q9NZB8 ENTREZGENE
  Q9UEM1 ENTREZGENE
UniProt Secondary B3KPT7 UniProtKB/Swiss-Prot
  B4DTP1 UniProtKB/Swiss-Prot
  O14940 UniProtKB/Swiss-Prot
  O14941 UniProtKB/Swiss-Prot
  O75710 UniProtKB/Swiss-Prot
  Q5J7W0 UniProtKB/Swiss-Prot
  Q5TCE1 UniProtKB/Swiss-Prot
  Q5TCE2 UniProtKB/Swiss-Prot
  Q5TCE6 UniProtKB/Swiss-Prot
  Q5TCE9 UniProtKB/Swiss-Prot
  Q5TCF0 UniProtKB/Swiss-Prot
  Q5TCF1 UniProtKB/Swiss-Prot
  Q8N418 UniProtKB/Swiss-Prot
  Q9NZB7 UniProtKB/Swiss-Prot
  Q9UEM1 UniProtKB/Swiss-Prot