MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) - Rat Genome Database

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Gene: MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) Homo sapiens
Analyze
Symbol: MTR
Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
RGD ID: 731933
HGNC Page HGNC:7468
Description: Enables methionine synthase activity. Involved in cobalamin metabolic process and methionine biosynthetic process. Located in cytosol. Implicated in several diseases, including IgA glomerulonephritis; artery disease (multiple); autistic disorder; hematologic cancer (multiple); and hyperhomocysteinemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5-methyltetrahydrofolate--homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1; cblG; cobalamin-dependent methionine synthase; FLJ33168; FLJ43216; FLJ45386; HMAG; methionine synthase; MS; vitamin-B12 dependent methionine synthase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,795,281 - 236,903,981 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,795,260 - 236,921,278 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,958,581 - 237,067,281 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361235,025,341 - 235,130,585 (+)NCBINCBI36Build 36hg18NCBI36
Build 341233,284,758 - 233,390,001NCBI
Celera1210,207,757 - 210,316,611 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1207,414,687 - 207,523,271 (+)NCBIHuRef
CHM1_11238,230,032 - 238,338,720 (+)NCBICHM1_1
T2T-CHM13v2.01236,206,330 - 236,315,021 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
5,6,7,8-tetrahydrofolic acid  (EXP)
5-methyltetrahydrofolic acid  (EXP)
acetaldehyde  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP)
aluminium atom  (EXP)
aluminium(0)  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benazepril  (EXP)
benzimidazoles  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
butanal  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
corn oil  (ISO)
cyanocob(III)alamin  (EXP,ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
D-penicillamine  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dimethylarsinic acid  (EXP)
dinitrogen oxide  (EXP)
dopamine  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
glutathione  (EXP)
glutathionylcobalamin  (EXP)
homocysteine  (EXP,ISO)
hydroxocobalamin  (EXP)
hypoxanthine  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
LY294002  (EXP)
medroxyprogesterone acetate  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methotrexate  (EXP)
methylcobalamin  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (ISO)
nitroprusside  (ISO)
paracetamol  (EXP,ISO)
phenylhydrazine  (ISO)
pirinixic acid  (EXP)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (ISO)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (EXP)
thimerosal  (EXP)
thymidine  (EXP)
titanium dioxide  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)
cytosol  (IBA,IDA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mild neonatal hypoxia exacerbates the effects of vitamin-deficient diet on homocysteine metabolism in rats. Blaise S, etal., Pediatr Res 2005 Jun;57(6):777-82. Epub 2005 Apr 21.
2. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
3. Vitamin B12 is a strong determinant of low methionine synthase activity and DNA hypomethylation in gastrectomized rats. Brunaud L, etal., Digestion. 2003;68(2-3):133-40. Epub 2003 Nov 28.
4. MTR polymorphic variant A2756G and retinoblastoma risk in Brazilian children. de Lima EL, etal., Pediatr Blood Cancer. 2010 Jul 1;54(7):904-8. doi: 10.1002/pbc.22472.
5. Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. Doolin MT, etal., Am J Hum Genet 2002 Nov;71(5):1222-6. Epub 2002 Oct 09.
6. Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults. Gemmati D, etal., Cancer Epidemiol Biomarkers Prev. 2004 May;13(5):787-94.
7. Genetic analysis of 56 polymorphisms in 17 genes involved in methionine metabolism in patients with abdominal aortic aneurysm. Giusti B, etal., J Med Genet. 2008 Nov;45(11):721-30. doi: 10.1136/jmg.2008.057851. Epub 2008 Jul 17.
8. Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism. Giusti B, etal., Thromb Haemost. 2010 Aug;104(2):231-42. doi: 10.1160/TH09-11-0748. Epub 2010 May 10.
9. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
10. Impact of methionine synthase gene and methylenetetrahydrofolate reductase gene polymorphisms on the risk of sudden sensorineural hearing loss. Gross M, etal., Audiol Neurootol. 2006;11(5):287-93. Epub 2006 Jun 14.
11. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
12. Polymorphisms of methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and thymidylate synthase (TYMS) in multiple myeloma risk. Lima CS, etal., Leuk Res. 2008 Mar;32(3):401-5. Epub 2007 Jul 25.
13. S-adenosylmethionine in liver health, injury, and cancer. Lu SC and Mato JM, Physiol Rev. 2012 Oct;92(4):1515-42. doi: 10.1152/physrev.00047.2011.
14. Aberrations in folate metabolic pathway and altered susceptibility to autism. Mohammad NS, etal., Psychiatr Genet. 2009 Aug;19(4):171-6.
15. Prenatal alcohol exposure alters methyl metabolism and programs serotonin transporter and glucocorticoid receptor expression in brain. Ngai YF, etal., Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R613-22. doi: 10.1152/ajpregu.00075.2015. Epub 2015 Jul 15.
16. Polymorphisms of MTHFR and MTR genes are not related to susceptibility to childhood ALL in North India. Nikbakht M, etal., Exp Oncol. 2012;34(1):43-8.
17. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population. Rouissi K, etal., Cancer Genet Cytogenet. 2009 Nov;195(1):43-53.
24. Germline genetic variation and treatment response on CCG-1891. Sepe DM, etal., Pediatr Blood Cancer. 2012 May;58(5):695-700. doi: 10.1002/pbc.23192. Epub 2011 May 25.
25. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. Stover PJ J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
26. Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk. Suzuki T, etal., Cancer Epidemiol Biomarkers Prev. 2008 Oct;17(10):2742-7.
27. Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study. Uchida Y, etal., BMC Med Genet. 2011 Mar 7;12:35. doi: 10.1186/1471-2350-12-35.
28. Associations between genetic variants in folate and drug metabolizing pathways and relapse risk in pediatric acute lymphoid leukemia on CCG-1952. Vujkovic M, etal., Leuk Res Rep. 2015 Jul 21;4(2):47-50. doi: 10.1016/j.lrr.2015.05.005. eCollection 2015.
29. [Study on the relations between genetic polymorphisms in methylenetetrahydrofolate reductase, methionine synthase and the risk of pancreatic cancer] Wang L, etal., Zhonghua Liu Xing Bing Xue Za Zhi. 2006 Jan;27(1):50-4.
30. Update and new concepts in vitamin responsive disorders of folate transport and metabolism. Watkins D and Rosenblatt DS, J Inherit Metab Dis. 2012 Jul;35(4):665-70. doi: 10.1007/s10545-011-9418-1. Epub 2011 Nov 23.
31. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. Watkins D, etal., Am J Hum Genet. 2002 Jul;71(1):143-53. Epub 2002 May 30.
32. Tissue-specific alterations of methyl group metabolism with DNA hypermethylation in the Zucker (type 2) diabetic fatty rat. Williams KT and Schalinske KL, Diabetes Metab Res Rev. 2012 Feb;28(2):123-31. doi: 10.1002/dmrr.1281.
33. Type I diabetes leads to tissue-specific DNA hypomethylation in male rats. Williams KT, etal., J Nutr. 2008 Nov;138(11):2064-9. doi: 10.3945/jn.108.094144.
34. A candidate gene approach to genetic contributors to the development of IgA nephropathy. Yamamoto R, etal., Nephrol Dial Transplant. 2012 Mar;27(3):1020-30. doi: 10.1093/ndt/gfr369. Epub 2011 Jul 7.
35. D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients. Zhang Y, etal., J Hum Genet. 2004;49(6):296-301. Epub 2004 May 18.
36. Polymorphism of methionine synthase gene in nuclear families of congenital heart disease. Zhu WL, etal., Biomed Environ Sci. 2004 Mar;17(1):57-64.
Additional References at PubMed
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PMID:11920232   PMID:12015064   PMID:12020105   PMID:12091127   PMID:12111380   PMID:12154064   PMID:12164325   PMID:12372672   PMID:12477932   PMID:12482550   PMID:12642343   PMID:12648076  
PMID:12649067   PMID:12670934   PMID:12716294   PMID:12810988   PMID:12855226   PMID:12876480   PMID:12893022   PMID:12923861   PMID:12964809   PMID:14684825   PMID:14702039   PMID:14744749  
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PMID:18485163   PMID:18498768   PMID:18510611   PMID:18607581   PMID:18620331   PMID:18636124   PMID:18676680   PMID:18700049   PMID:18771981   PMID:18785313   PMID:18799873   PMID:18801628  
PMID:18815869   PMID:18830263   PMID:18836720   PMID:18842806   PMID:18842997   PMID:18844488   PMID:18983896   PMID:18988749   PMID:18992148   PMID:18996879   PMID:19019492   PMID:19020309  
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PMID:19283448   PMID:19322201   PMID:19328558   PMID:19332728   PMID:19336370   PMID:19349296   PMID:19353223   PMID:19389261   PMID:19394322   PMID:19420105   PMID:19427504   PMID:19493349  
PMID:19504454   PMID:19533788   PMID:19588544   PMID:19619240   PMID:19625176   PMID:19649727   PMID:19683694   PMID:19692168   PMID:19706843   PMID:19706844   PMID:19729796   PMID:19737740  
PMID:19751277   PMID:19760026   PMID:19774638   PMID:19776626   PMID:19776634   PMID:19777601   PMID:19826453   PMID:19834535   PMID:19838916   PMID:19843671   PMID:19858780   PMID:19913121  
PMID:19936946   PMID:19948975   PMID:20031554   PMID:20056620   PMID:20082058   PMID:20085490   PMID:20101025   PMID:20111902   PMID:20180013   PMID:20209990   PMID:20235210   PMID:20237949  
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Genomics

Comparative Map Data
MTR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381236,795,281 - 236,903,981 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1236,795,260 - 236,921,278 (+)EnsemblGRCh38hg38GRCh38
GRCh371236,958,581 - 237,067,281 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361235,025,341 - 235,130,585 (+)NCBINCBI36Build 36hg18NCBI36
Build 341233,284,758 - 233,390,001NCBI
Celera1210,207,757 - 210,316,611 (+)NCBICelera
Cytogenetic Map1q43NCBI
HuRef1207,414,687 - 207,523,271 (+)NCBIHuRef
CHM1_11238,230,032 - 238,338,720 (+)NCBICHM1_1
T2T-CHM13v2.01236,206,330 - 236,315,021 (+)NCBIT2T-CHM13v2.0
Mtr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391312,196,217 - 12,273,090 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1312,197,598 - 12,272,999 (-)EnsemblGRCm39 Ensembl
GRCm381312,181,331 - 12,258,199 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1312,182,712 - 12,258,113 (-)EnsemblGRCm38mm10GRCm38
MGSCv371312,279,086 - 12,350,267 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361312,240,869 - 12,312,428 (-)NCBIMGSCv36mm8
Celera1312,106,428 - 12,177,671 (-)NCBICelera
Cytogenetic Map13A1NCBI
cM Map134.52NCBI
Mtr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81762,911,705 - 62,996,544 (+)NCBIGRCr8
mRatBN7.21758,219,998 - 58,308,560 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1758,220,071 - 58,304,822 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1761,408,217 - 61,492,723 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01765,411,342 - 65,495,846 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01759,565,531 - 59,650,043 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01766,210,444 - 66,295,014 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1766,210,461 - 66,295,014 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01767,954,893 - 68,041,488 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41768,782,708 - 68,867,101 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11768,793,540 - 68,877,930 (+)NCBI
Celera1762,230,512 - 62,313,601 (-)NCBICelera
Cytogenetic Map17q12.1NCBI
Mtr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554923,376,512 - 3,474,180 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554923,372,915 - 3,474,173 (-)NCBIChiLan1.0ChiLan1.0
MTR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2112,253,398 - 12,365,190 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,469,507 - 12,584,105 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01212,353,195 - 212,463,304 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11217,352,707 - 217,461,313 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1217,358,050 - 217,460,946 (+)Ensemblpanpan1.1panPan2
MTR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.143,219,851 - 3,328,000 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl43,215,090 - 3,328,115 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha43,267,770 - 3,375,365 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.043,240,178 - 3,347,933 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl43,243,029 - 3,347,943 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.143,239,421 - 3,346,967 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.043,370,826 - 3,478,490 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.043,591,890 - 3,699,525 (-)NCBIUU_Cfam_GSD_1.0
Mtr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934439,925,911 - 40,014,880 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648416,087,923 - 16,180,148 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648416,087,924 - 16,180,089 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1454,546,978 - 54,652,763 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11454,546,978 - 54,652,780 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21458,497,706 - 58,627,105 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MTR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12573,935,666 - 74,039,872 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2573,935,225 - 74,038,741 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605576,034,340 - 76,141,359 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477513,792,043 - 13,896,559 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477513,791,690 - 13,903,888 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTR
1166 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000778974]|Epilepsy [RCV000162189]|Homocystinuria [RCV001003947]|Inborn genetic diseases [RCV000210576]|Methylcobalamin deficiency type cblG [RCV000015348]|not provided [RCV000414734] Chr1:236895470 [GRCh38]
Chr1:237058770 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
NM_000254.3(MTR):c.2640_2642del (p.Ile881del) deletion Methylcobalamin deficiency type cblG [RCV000015349]|Methylcobalamin deficiency type cblG [RCV002482871] Chr1:236880799..236880801 [GRCh38]
Chr1:237044099..237044101 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000254.3(MTR):c.2758C>G (p.His920Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015350] Chr1:236885202 [GRCh38]
Chr1:237048502 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic|uncertain significance
NM_000254.3(MTR):c.340-166A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015351] Chr1:236808538 [GRCh38]
Chr1:236971838 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs) microsatellite Methylcobalamin deficiency type cblG [RCV000015352] Chr1:236861192..236861193 [GRCh38]
Chr1:237024492..237024493 [GRCh37]
Chr1:1q43		 pathogenic
MTR, IVS6AS, G-A, LYS203 single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015353] Chr1:1q43 pathogenic
NM_000254.3(MTR):c.3380dup (p.Ala1128fs) duplication Methylcobalamin deficiency type cblG [RCV000015354] Chr1:236894530..236894531 [GRCh38]
Chr1:237057830..237057831 [GRCh37]
Chr1:1q43		 pathogenic
MTR, 2756A-G single nucleotide variant Neural tube defects, folate-sensitive, susceptibility to [RCV000015355] Chr1:1q43 risk factor
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015356] Chr1:236852578 [GRCh38]
Chr1:237015878 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015357] Chr1:236897020 [GRCh38]
Chr1:237060320 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000015358]|not specified [RCV004525853] Chr1:236835586 [GRCh38]
Chr1:236998886 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000254.3(MTR):c.1696-143T>C single nucleotide variant not provided [RCV001571361] Chr1:236852378 [GRCh38]
Chr1:237015678 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.486G>A (p.Pro162=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002063062]|not specified [RCV000602845] Chr1:236810579 [GRCh38]
Chr1:236973879 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.928-11C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000305244] Chr1:236826818 [GRCh38]
Chr1:236990118 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.2(MTR):c.34+2750A>C single nucleotide variant Lung cancer [RCV000090613] Chr1:236798487 [GRCh38]
Chr1:236961787 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1 copy number loss See cases [RCV000051082] Chr1:230106271..243677283 [GRCh38]
Chr1:230242018..243840585 [GRCh37]
Chr1:228308641..241907208 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-44(chr1:236237049-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051883]|See cases [RCV000051883] Chr1:236237049..248918469 [GRCh38]
Chr1:236400349..249212668 [GRCh37]
Chr1:234466972..247179291 [NCBI36]
Chr1:1q42.3-44		 pathogenic
GRCh38/hg38 1q42.2-44(chr1:232097468-248918610)x1 copy number loss See cases [RCV000053985] Chr1:232097468..248918610 [GRCh38]
Chr1:232233214..249212809 [GRCh37]
Chr1:230299837..247179432 [NCBI36]
Chr1:1q42.2-44		 pathogenic
GRCh38/hg38 1q42.2-43(chr1:233486559-239971543)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053986]|See cases [RCV000053986] Chr1:233486559..239971543 [GRCh38]
Chr1:233622305..240134843 [GRCh37]
Chr1:231688928..238201466 [NCBI36]
Chr1:1q42.2-43		 pathogenic
NM_000254.2(MTR):c.1794C>T (p.Phe598=) single nucleotide variant Malignant melanoma [RCV000064591] Chr1:236852619 [GRCh38]
Chr1:237015919 [GRCh37]
Chr1:235082542 [NCBI36]
Chr1:1q43		 not provided
NM_000254.3(MTR):c.2994C>T (p.Asn998=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000362993]|Methylcobalamin deficiency type cblG [RCV001413990]|not specified [RCV000615564] Chr1:236889323 [GRCh38]
Chr1:237052623 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000318176]|MTR-related disorder [RCV003965056]|Methylcobalamin deficiency type cblG [RCV000642172]|Methylcobalamin deficiency type cblG [RCV002505092]|not provided [RCV001698968]|not specified [RCV000126861] Chr1:236895426 [GRCh38]
Chr1:237058726 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000316970]|Methylcobalamin deficiency type cblG [RCV001517612]|not specified [RCV000126862] Chr1:236895444 [GRCh38]
Chr1:237058744 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000320660]|Methylcobalamin deficiency type cblG [RCV001517613]|not specified [RCV000126863] Chr1:236895528 [GRCh38]
Chr1:237058828 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3711+15G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000289128]|Methylcobalamin deficiency type cblG [RCV001518106]|not specified [RCV000126864] Chr1:236897133 [GRCh38]
Chr1:237060433 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3712-8T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000351111]|Methylcobalamin deficiency type cblG [RCV001514107]|not specified [RCV000126865] Chr1:236897550 [GRCh38]
Chr1:237060850 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.340-6C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000293753]|Methylcobalamin deficiency type cblG [RCV001510161]|not specified [RCV000126866] Chr1:236808698 [GRCh38]
Chr1:236971998 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2594+15T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000283784]|Methylcobalamin deficiency type cblG [RCV001518105]|not specified [RCV000126867] Chr1:236874861 [GRCh38]
Chr1:237038161 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000398009]|Gastrointestinal stromal tumor [RCV000144923]|MTR-related disorder [RCV003982899]|Methylcobalamin deficiency type cblG [RCV001519615]|Neural tube defects, folate-sensitive, susceptibility to [RCV000015355]|not provided [RCV001812069]|not specified [RCV000126868] Chr1:236885200 [GRCh38]
Chr1:237048500 [GRCh37]
Chr1:1q43		 risk factor|benign|likely benign|uncertain significance
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000366897]|Methylcobalamin deficiency type cblG [RCV001517611]|not specified [RCV000126869] Chr1:236891269 [GRCh38]
Chr1:237054569 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2669_2670del (p.Val890fs) microsatellite Methylcobalamin deficiency type cblG [RCV003514322]|not provided [RCV000176521] Chr1:236880826..236880827 [GRCh38]
Chr1:237044126..237044127 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2738A>T (p.Tyr913Phe) single nucleotide variant not provided [RCV000514691] Chr1:236885182 [GRCh38]
Chr1:237048482 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:236237049-236904883)x3 copy number gain See cases [RCV000136663] Chr1:236237049..236904883 [GRCh38]
Chr1:236400349..237068183 [GRCh37]
Chr1:234466972..235134806 [NCBI36]
Chr1:1q42.3-43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3 copy number gain See cases [RCV000136666] Chr1:229022909..248918469 [GRCh38]
Chr1:229158656..249212668 [GRCh37]
Chr1:227225279..247179291 [NCBI36]
Chr1:1q42.13-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3 copy number gain See cases [RCV000136772] Chr1:235387992..237270632 [GRCh38]
Chr1:235551307..237433932 [GRCh37]
Chr1:233617930..235500555 [NCBI36]
Chr1:1q42.3-43		 pathogenic
GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1 copy number loss See cases [RCV000137554] Chr1:236556082..248918469 [GRCh38]
Chr1:236719382..249212668 [GRCh37]
Chr1:234786005..247179291 [NCBI36]
Chr1:1q43-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.3-43(chr1:236206560-236941297)x3 copy number gain See cases [RCV000143574] Chr1:236206560..236941297 [GRCh38]
Chr1:236369860..237104597 [GRCh37]
Chr1:234436483..235171220 [NCBI36]
Chr1:1q42.3-43		 uncertain significance
Single allele deletion Large for gestational age [RCV000161197] Chr1:236821262..236965080 [GRCh38]
Chr1:236984562..237128380 [GRCh37]
Chr1:1q43		 not provided
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000314594]|MTR-related disorder [RCV003927726]|Methylcobalamin deficiency type cblG [RCV001080972]|not provided [RCV000766292] Chr1:236891204 [GRCh38]
Chr1:237054504 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000254.3(MTR):c.858C>T (p.Pro286=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000335773]|Methylcobalamin deficiency type cblG [RCV000531455]|not provided [RCV001532582]|not specified [RCV000180478] Chr1:236824212 [GRCh38]
Chr1:236987512 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2474-19_2474-15del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000406424]|Methylcobalamin deficiency type cblG [RCV002059468] Chr1:236874707..236874711 [GRCh38]
Chr1:237038007..237038011 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*2726A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000260958] Chr1:236900370 [GRCh38]
Chr1:237063670 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.250-7G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000385932]|Methylcobalamin deficiency type cblG [RCV000642171]|Methylcobalamin deficiency type cblG [RCV002504043]|not provided [RCV003736694]|not specified [RCV000418564] Chr1:236806137 [GRCh38]
Chr1:236969437 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.1722T>C (p.Ser574=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000387338]|Methylcobalamin deficiency type cblG [RCV003514346]|not specified [RCV000613327] Chr1:236852547 [GRCh38]
Chr1:237015847 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*2775_*2776del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000261909] Chr1:236900418..236900419 [GRCh38]
Chr1:237063718..237063719 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*465T>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000261991] Chr1:236898109 [GRCh38]
Chr1:237061409 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000265427]|Methylcobalamin deficiency type cblG [RCV000642169]|not provided [RCV001718597]|not specified [RCV000433914] Chr1:236829226 [GRCh38]
Chr1:236992526 [GRCh37]
Chr1:1q43		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000254.3(MTR):c.866-10C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000393375]|MTR-related disorder [RCV003949986]|Methylcobalamin deficiency type cblG [RCV001035214] Chr1:236825328 [GRCh38]
Chr1:236988628 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3712-7T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000394896]|MTR-related disorder [RCV003977838]|Methylcobalamin deficiency type cblG [RCV000919840]|Methylcobalamin deficiency type cblG [RCV002502177]|not provided [RCV001697738] Chr1:236897551 [GRCh38]
Chr1:237060851 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000398006]|Methylcobalamin deficiency type cblG [RCV001306141]|See cases [RCV002252091] Chr1:236891160 [GRCh38]
Chr1:237054460 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000405364]|Methylcobalamin deficiency type cblG [RCV000642170]|not provided [RCV001597039] Chr1:236897072 [GRCh38]
Chr1:237060372 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.34+13C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000295069]|Methylcobalamin deficiency type cblG [RCV002059465] Chr1:236795750 [GRCh38]
Chr1:236959050 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000274727]|MTR-related disorder [RCV003940117]|Methylcobalamin deficiency type cblG [RCV000880577] Chr1:236894489 [GRCh38]
Chr1:237057789 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1310C>A (p.Ser437Tyr) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000277903]|Methylcobalamin deficiency type cblG [RCV001850550]|not provided [RCV001753754] Chr1:236835668 [GRCh38]
Chr1:236998968 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3500G>A (p.Arg1167Gln) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000286629]|Methylcobalamin deficiency type cblG [RCV001850552]|not provided [RCV001753755] Chr1:236895452 [GRCh38]
Chr1:237058752 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3598+15G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000290155]|Methylcobalamin deficiency type cblG [RCV002522122] Chr1:236895565 [GRCh38]
Chr1:237058865 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1128G>A (p.Glu376=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000268857]|Methylcobalamin deficiency type cblG [RCV002059466] Chr1:236832018 [GRCh38]
Chr1:236995318 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000259444]|Methylcobalamin deficiency type cblG [RCV000967790]|not specified [RCV000438222] Chr1:236895443 [GRCh38]
Chr1:237058743 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000377510]|Methylcobalamin deficiency type cblG [RCV002059469]|not specified [RCV000606296] Chr1:236895535 [GRCh38]
Chr1:237058835 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000378507]|Methylcobalamin deficiency type cblG [RCV000543227]|not specified [RCV000440532] Chr1:236895448 [GRCh38]
Chr1:237058748 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.34+10C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000381190]|Methylcobalamin deficiency type cblG [RCV002059464]|not specified [RCV000603133] Chr1:236795747 [GRCh38]
Chr1:236959047 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1080A>G (p.Leu360=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000365604]|Methylcobalamin deficiency type cblG [RCV000642176]|not specified [RCV000422427] Chr1:236831970 [GRCh38]
Chr1:236995270 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000372535]|Intellectual disability [RCV001252326]|Methylcobalamin deficiency type cblG [RCV001850551]|not provided [RCV000756361] Chr1:236862284 [GRCh38]
Chr1:237025584 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236224569-237379105)x3 copy number gain See cases [RCV000207455] Chr1:236224569..237379105 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NM_000254.3(MTR):c.1_2del (p.Met1fs) deletion not provided [RCV000518922] Chr1:236795704..236795705 [GRCh38]
Chr1:236959004..236959005 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1q42.2-43(chr1:234546246-238716872) copy number loss not provided [RCV000767542] Chr1:234546246..238716872 [GRCh37]
Chr1:1q42.2-43		 likely pathogenic
NM_000254.3(MTR):c.2044-11del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000320077] Chr1:236861114 [GRCh38]
Chr1:237024414 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3599-10C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000347547]|Methylcobalamin deficiency type cblG [RCV000555365]|not provided [RCV001812783]|not specified [RCV000420573] Chr1:236896996 [GRCh38]
Chr1:237060296 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.1437C>T (p.Asp479=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000330478]|Methylcobalamin deficiency type cblG [RCV000642173]|not provided [RCV003992264]|not specified [RCV000442851] Chr1:236838521 [GRCh38]
Chr1:237001821 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000326202]|MTR-related disorder [RCV003957551]|Methylcobalamin deficiency type cblG [RCV001463144]|not provided [RCV000426813] Chr1:236832031 [GRCh38]
Chr1:236995331 [GRCh37]
Chr1:1q43		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000310738]|MTR-related disorder [RCV003949987]|Methylcobalamin deficiency type cblG [RCV001086144]|not provided [RCV001711775] Chr1:236886331 [GRCh38]
Chr1:237049631 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.1076-8C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000308565]|Methylcobalamin deficiency type cblG [RCV000642175]|not provided [RCV001311688]|not specified [RCV000439047] Chr1:236831958 [GRCh38]
Chr1:236995258 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.2686C>T (p.Leu896=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000341104]|Methylcobalamin deficiency type cblG [RCV000902655] Chr1:236885130 [GRCh38]
Chr1:237048430 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2454T>C (p.Ala818=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000341827]|Methylcobalamin deficiency type cblG [RCV002059467] Chr1:236873821 [GRCh38]
Chr1:237037121 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000356359]|Methylcobalamin deficiency type cblG [RCV000973901]|not specified [RCV000434486] Chr1:236895429 [GRCh38]
Chr1:237058729 [GRCh37]
Chr1:1q43		 benign|likely benign
GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3 copy number gain See cases [RCV000240034] Chr1:234050864..249213059 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000254.3(MTR):c.*1022G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000280195] Chr1:236898666 [GRCh38]
Chr1:237061966 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4866T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000274054] Chr1:236902510 [GRCh38]
Chr1:237065810 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*5909C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000274672] Chr1:236903553 [GRCh38]
Chr1:237066853 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*1361A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000270883] Chr1:236899005 [GRCh38]
Chr1:237062305 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*2391G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000275160] Chr1:236900035 [GRCh38]
Chr1:237063335 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.-67C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000271460]|not provided [RCV001642910] Chr1:236795637 [GRCh38]
Chr1:236958937 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*4648G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000269005] Chr1:236902292 [GRCh38]
Chr1:237065592 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*1469T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000271905] Chr1:236899113 [GRCh38]
Chr1:237062413 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*5194AAAAC[5] microsatellite Disorders of Intracellular Cobalamin Metabolism [RCV000277498]|not provided [RCV004691202] Chr1:236902837..236902838 [GRCh38]
Chr1:237066137..237066138 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1744A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000278053] Chr1:236899388 [GRCh38]
Chr1:237062688 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.-173G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000298444] Chr1:236795531 [GRCh38]
Chr1:236958831 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*3428G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000314178] Chr1:236901072 [GRCh38]
Chr1:237064372 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*943T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000352673] Chr1:236898587 [GRCh38]
Chr1:237061887 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*2343A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000397624] Chr1:236899987 [GRCh38]
Chr1:237063287 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1133C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000300258] Chr1:236898777 [GRCh38]
Chr1:237062077 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.2(MTR):c.-413C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000314676] Chr1:236795291 [GRCh38]
Chr1:236958591 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*16del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000314958]|Methylcobalamin deficiency type cblG [RCV000986577]|not provided [RCV001660574] Chr1:236897646 [GRCh38]
Chr1:237060946 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*2879G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000376455] Chr1:236900523 [GRCh38]
Chr1:237063823 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*3493A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000301386] Chr1:236901137 [GRCh38]
Chr1:237064437 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*2774dup duplication Disorders of Intracellular Cobalamin Metabolism [RCV000316041] Chr1:236900409..236900410 [GRCh38]
Chr1:237063709..237063710 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*5194AAAAC[3] microsatellite Disorders of Intracellular Cobalamin Metabolism [RCV000316136] Chr1:236902838..236902842 [GRCh38]
Chr1:237066138..237066142 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*3446G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000354921] Chr1:236901090 [GRCh38]
Chr1:237064390 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-108G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000377709] Chr1:236795596 [GRCh38]
Chr1:236958896 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3601G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000356217] Chr1:236901245 [GRCh38]
Chr1:237064545 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.-201C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000356432]|not provided [RCV001582918] Chr1:236795503 [GRCh38]
Chr1:236958803 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*287G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000356794] Chr1:236897931 [GRCh38]
Chr1:237061231 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*4409G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000302934] Chr1:236902053 [GRCh38]
Chr1:237065353 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4347A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000337840] Chr1:236901991 [GRCh38]
Chr1:237065291 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*755T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000357688] Chr1:236898399 [GRCh38]
Chr1:237061699 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000357779]|Methylcobalamin deficiency type cblG [RCV001519556]|not provided [RCV001812782]|not specified [RCV000431890] Chr1:236826841 [GRCh38]
Chr1:236990141 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*4423C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000357778] Chr1:236902067 [GRCh38]
Chr1:237065367 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2114A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000403041] Chr1:236899758 [GRCh38]
Chr1:237063058 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*4286T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000403405] Chr1:236901930 [GRCh38]
Chr1:237065230 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*5535G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000403478] Chr1:236903179 [GRCh38]
Chr1:237066479 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*2887C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000286689] Chr1:236900531 [GRCh38]
Chr1:237063831 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*3166C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000287504] Chr1:236900810 [GRCh38]
Chr1:237064110 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5294G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000338291] Chr1:236902938 [GRCh38]
Chr1:237066238 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*1912G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000339128] Chr1:236899556 [GRCh38]
Chr1:237062856 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*3910G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000381711] Chr1:236901554 [GRCh38]
Chr1:237064854 [GRCh37]
Chr1:1q43		 benign|uncertain significance
NM_000254.3(MTR):c.*3140G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000382026] Chr1:236900784 [GRCh38]
Chr1:237064084 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.659G>A (p.Arg220Gln) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000404047]|Methylcobalamin deficiency type cblG [RCV001850549]|not provided [RCV003328579] Chr1:236815653 [GRCh38]
Chr1:236978953 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4461T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000304140] Chr1:236902105 [GRCh38]
Chr1:237065405 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.-111C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000320591]|not provided [RCV001778886] Chr1:236795593 [GRCh38]
Chr1:236958893 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*3682T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000320905] Chr1:236901326 [GRCh38]
Chr1:237064626 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.-151C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000360160]|not provided [RCV001778885] Chr1:236795553 [GRCh38]
Chr1:236958853 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*1254A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000360926] Chr1:236898898 [GRCh38]
Chr1:237062198 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*4382C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000405275] Chr1:236902026 [GRCh38]
Chr1:237065326 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3322C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000406589] Chr1:236900966 [GRCh38]
Chr1:237064266 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*2804T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000321681] Chr1:236900448 [GRCh38]
Chr1:237063748 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*1134G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000341195] Chr1:236898778 [GRCh38]
Chr1:237062078 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*5497dup duplication Disorders of Intracellular Cobalamin Metabolism [RCV000341620] Chr1:236903135..236903136 [GRCh38]
Chr1:237066435..237066436 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3683_*3684insTTAA insertion Disorders of Intracellular Cobalamin Metabolism [RCV000361531] Chr1:236901327..236901328 [GRCh38]
Chr1:237064627..237064628 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*5537T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000306341]|not provided [RCV004691203] Chr1:236903181 [GRCh38]
Chr1:237066481 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*773del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000322819] Chr1:236898405 [GRCh38]
Chr1:237061705 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*4639G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000363593] Chr1:236902283 [GRCh38]
Chr1:237065583 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*1585C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000386240] Chr1:236899229 [GRCh38]
Chr1:237062529 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1383C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000307300] Chr1:236899027 [GRCh38]
Chr1:237062327 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*4823G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000364830] Chr1:236902467 [GRCh38]
Chr1:237065767 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*2388G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000364904] Chr1:236900032 [GRCh38]
Chr1:237063332 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*4114A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000387308] Chr1:236901758 [GRCh38]
Chr1:237065058 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3230G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000293586] Chr1:236900874 [GRCh38]
Chr1:237064174 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1451T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000366557] Chr1:236899095 [GRCh38]
Chr1:237062395 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*5170A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000388244] Chr1:236902814 [GRCh38]
Chr1:237066114 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*5882G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000309767] Chr1:236903526 [GRCh38]
Chr1:237066826 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3824del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000327227] Chr1:236901467 [GRCh38]
Chr1:237064767 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*5884A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000366997] Chr1:236903528 [GRCh38]
Chr1:237066828 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4776A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000310128] Chr1:236902420 [GRCh38]
Chr1:237065720 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*4065A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000328173] Chr1:236901709 [GRCh38]
Chr1:237065009 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*905G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000328630] Chr1:236898549 [GRCh38]
Chr1:237061849 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3174C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000347065] Chr1:236900818 [GRCh38]
Chr1:237064118 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.-6G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000328980]|not provided [RCV000413528] Chr1:236795698 [GRCh38]
Chr1:236958998 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-379C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000348478] Chr1:236795325 [GRCh38]
Chr1:236958625 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*112A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000369614]|not provided [RCV001636852] Chr1:236897756 [GRCh38]
Chr1:237061056 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*2560A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000369642] Chr1:236900204 [GRCh38]
Chr1:237063504 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*4443C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000393248] Chr1:236902087 [GRCh38]
Chr1:237065387 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*1147T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000393426] Chr1:236898791 [GRCh38]
Chr1:237062091 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.742G>A (p.Val248Met) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000297160]|MTR-related disorder [RCV003949985]|Methylcobalamin deficiency type cblG [RCV000892103]|not provided [RCV003417953] Chr1:236816521 [GRCh38]
Chr1:236979821 [GRCh37]
Chr1:1q43		 benign|likely benign|uncertain significance
NM_000254.3(MTR):c.*286C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000297234] Chr1:236897930 [GRCh38]
Chr1:237061230 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*2538A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000311512] Chr1:236900182 [GRCh38]
Chr1:237063482 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*153A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000394909]|not provided [RCV001597040] Chr1:236897797 [GRCh38]
Chr1:237061097 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*1488T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000331743] Chr1:236899132 [GRCh38]
Chr1:237062432 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*1684C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000332108] Chr1:236899328 [GRCh38]
Chr1:237062628 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3464A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000395219] Chr1:236901108 [GRCh38]
Chr1:237064408 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.-321C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000396462]|not provided [RCV001785551] Chr1:236795383 [GRCh38]
Chr1:236958683 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*5255T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000280953] Chr1:236902899 [GRCh38]
Chr1:237066199 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-198C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000259374] Chr1:236795506 [GRCh38]
Chr1:236958806 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1942C>T (p.Arg648Cys) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000281450] Chr1:236853077 [GRCh38]
Chr1:237016377 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*6101A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000261269] Chr1:236903745 [GRCh38]
Chr1:237067045 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2773_*2774dup duplication Disorders of Intracellular Cobalamin Metabolism [RCV000356838]|not provided [RCV004691201] Chr1:236900409..236900410 [GRCh38]
Chr1:237063709..237063710 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1657C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000277038] Chr1:236899301 [GRCh38]
Chr1:237062601 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3677T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000265814] Chr1:236901321 [GRCh38]
Chr1:237064621 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4292G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000278115] Chr1:236901936 [GRCh38]
Chr1:237065236 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3808A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000267418] Chr1:236901452 [GRCh38]
Chr1:237064752 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*760G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000267686] Chr1:236898404 [GRCh38]
Chr1:237061704 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-133G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000267779] Chr1:236795571 [GRCh38]
Chr1:236958871 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2405+8A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000280337]|Methylcobalamin deficiency type cblG [RCV003629113] Chr1:236863562 [GRCh38]
Chr1:237026862 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*820A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000268937] Chr1:236898464 [GRCh38]
Chr1:237061764 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3416A>G (p.Glu1139Gly) single nucleotide variant not provided [RCV002281381] Chr1:236895368 [GRCh38]
Chr1:237058668 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000254.3(MTR):c.*5639A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000344831] Chr1:236903283 [GRCh38]
Chr1:237066583 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2276G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000345139] Chr1:236899920 [GRCh38]
Chr1:237063220 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3988G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000292111] Chr1:236901632 [GRCh38]
Chr1:237064932 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*765T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000382093] Chr1:236898409 [GRCh38]
Chr1:237061709 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4145C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000293086] Chr1:236901789 [GRCh38]
Chr1:237065089 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2197C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000304193] Chr1:236899841 [GRCh38]
Chr1:237063141 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5112A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000331398] Chr1:236902756 [GRCh38]
Chr1:237066056 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*917G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000383173] Chr1:236898561 [GRCh38]
Chr1:237061861 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*921A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000293500] Chr1:236898565 [GRCh38]
Chr1:237061865 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3320G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000348369] Chr1:236900964 [GRCh38]
Chr1:237064264 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1105G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000403640] Chr1:236898749 [GRCh38]
Chr1:237062049 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5837dup duplication Disorders of Intracellular Cobalamin Metabolism [RCV000403214] Chr1:236903480..236903481 [GRCh38]
Chr1:237066780..237066781 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3226A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000404630] Chr1:236900870 [GRCh38]
Chr1:237064170 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1864T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000284046] Chr1:236899508 [GRCh38]
Chr1:237062808 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5352C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000284234] Chr1:236902996 [GRCh38]
Chr1:237066296 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1252C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000306217] Chr1:236898896 [GRCh38]
Chr1:237062196 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*6243A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000318819] Chr1:236903887 [GRCh38]
Chr1:237067187 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1030A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000335248] Chr1:236898674 [GRCh38]
Chr1:237061974 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.409+7A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000337000] Chr1:236808780 [GRCh38]
Chr1:236972080 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*945del deletion Disorders of Intracellular Cobalamin Metabolism [RCV000388606] Chr1:236898589 [GRCh38]
Chr1:237061889 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1232A>C (p.Gln411Pro) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000388611] Chr1:236835590 [GRCh38]
Chr1:236998890 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*485G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000321793] Chr1:236898129 [GRCh38]
Chr1:237061429 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2994A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000322727] Chr1:236900638 [GRCh38]
Chr1:237063938 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1785A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000338033] Chr1:236899429 [GRCh38]
Chr1:237062729 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.181A>C (p.Arg61=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000352335]|Methylcobalamin deficiency type cblG [RCV001464243]|not specified [RCV000428524] Chr1:236803574 [GRCh38]
Chr1:236966874 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*4148A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000352686] Chr1:236901792 [GRCh38]
Chr1:237065092 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5977A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000370476] Chr1:236903621 [GRCh38]
Chr1:237066921 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2364C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000310203] Chr1:236900008 [GRCh38]
Chr1:237063308 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1732T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000372786] Chr1:236899376 [GRCh38]
Chr1:237062676 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5248A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000373118] Chr1:236902892 [GRCh38]
Chr1:237066192 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-249C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000299253] Chr1:236795455 [GRCh38]
Chr1:236958755 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1786C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000373953] Chr1:236899430 [GRCh38]
Chr1:237062730 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5344G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000376389] Chr1:236902988 [GRCh38]
Chr1:237066288 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5956A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000313508] Chr1:236903600 [GRCh38]
Chr1:237066900 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5892A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001100126] Chr1:236903536 [GRCh38]
Chr1:237066836 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2044-9C>T single nucleotide variant not provided [RCV000949242]|not specified [RCV000606044] Chr1:236861116 [GRCh38]
Chr1:237024416 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2772C>G (p.Leu924=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101532]|Methylcobalamin deficiency type cblG [RCV001510094]|not provided [RCV003420056]|not specified [RCV000606935] Chr1:236885216 [GRCh38]
Chr1:237048516 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.*3169A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099920] Chr1:236900813 [GRCh38]
Chr1:237064113 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099653]|Methylcobalamin deficiency type cblG [RCV003514383]|not specified [RCV000604188] Chr1:236895504 [GRCh38]
Chr1:237058804 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*4293C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001100028] Chr1:236901937 [GRCh38]
Chr1:237065237 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*773T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099742] Chr1:236898417 [GRCh38]
Chr1:237061717 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3600del (p.Ile1201fs) deletion Methylcobalamin deficiency type cblG [RCV003768229]|not provided [RCV000732987] Chr1:236897007 [GRCh38]
Chr1:237060307 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_236902582)_(237205889_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV000560665] Chr1:236902582..237205889 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:236515525-249224684)x3 copy number gain See cases [RCV000449458] Chr1:236515525..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.3-43(chr1:236508351-237427945)x3 copy number gain See cases [RCV000446833] Chr1:236508351..237427945 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
GRCh37/hg19 1q42.3-44(chr1:235374095-249224684)x1 copy number loss See cases [RCV000447426] Chr1:235374095..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3 copy number gain See cases [RCV000447654] Chr1:231670870..249213000 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000254.3(MTR):c.669+20C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001511224]|not provided [RCV001720087] Chr1:236815683 [GRCh38]
Chr1:236978983 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.1977A>G (p.Lys659=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099554]|MTR-related disorder [RCV003902521]|Methylcobalamin deficiency type cblG [RCV002062462]|not provided [RCV001720123] Chr1:236859856 [GRCh38]
Chr1:237023156 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2474-18T>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001518104]|not specified [RCV000431137] Chr1:236874708 [GRCh38]
Chr1:237038008 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1953+7A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002059969]|not specified [RCV000431677] Chr1:236853095 [GRCh38]
Chr1:237016395 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.35-19A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002062725]|not specified [RCV000434863] Chr1:236803409 [GRCh38]
Chr1:236966709 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.609+10G>A single nucleotide variant not specified [RCV000419100] Chr1:236812854 [GRCh38]
Chr1:236976154 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.639T>C (p.Phe213=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000930645]|not specified [RCV000421717] Chr1:236815633 [GRCh38]
Chr1:236978933 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2196+19G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002063488]|not specified [RCV000428860] Chr1:236861296 [GRCh38]
Chr1:237024596 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.764+6T>C single nucleotide variant MTR-related disorder [RCV003912738]|Methylcobalamin deficiency type cblG [RCV001861578]|not specified [RCV000429202] Chr1:236816549 [GRCh38]
Chr1:236979849 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.108G>A (p.Gly36=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001392814]|not specified [RCV000439446] Chr1:236803501 [GRCh38]
Chr1:236966801 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2622G>A (p.Pro874=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101530]|Methylcobalamin deficiency type cblG [RCV000530752]|not provided [RCV003418135]|not specified [RCV000443236] Chr1:236880782 [GRCh38]
Chr1:237044082 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2775+17G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001865387]|not specified [RCV000419528] Chr1:236885236 [GRCh38]
Chr1:237048536 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2910G>A (p.Val970=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001861517]|not specified [RCV000419585] Chr1:236889239 [GRCh38]
Chr1:237052539 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3516C>T (p.Arg1172=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003629115]|not specified [RCV000439659] Chr1:236895468 [GRCh38]
Chr1:237058768 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3405+18C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002522424]|not specified [RCV000426174] Chr1:236894575 [GRCh38]
Chr1:237057875 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3599-18C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001523588]|not provided [RCV001729586]|not specified [RCV000443800] Chr1:236896988 [GRCh38]
Chr1:237060288 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.609+1092G>A single nucleotide variant not specified [RCV000443873] Chr1:236813936 [GRCh38]
Chr1:236977236 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3711+8A>C single nucleotide variant not specified [RCV000436829] Chr1:236897126 [GRCh38]
Chr1:237060426 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1075+7C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001424742]|not specified [RCV000440435] Chr1:236829275 [GRCh38]
Chr1:236992575 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1076-11C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095974]|Methylcobalamin deficiency type cblG [RCV002062495]|not specified [RCV000444103] Chr1:236831955 [GRCh38]
Chr1:236995255 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.3003A>T (p.Thr1001=) single nucleotide variant not specified [RCV000426511] Chr1:236889332 [GRCh38]
Chr1:237052632 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3636T>C (p.Ala1212=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001431261]|not specified [RCV000426780] Chr1:236897043 [GRCh38]
Chr1:237060343 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)x1 copy number loss See cases [RCV000447936] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_000254.3(MTR):c.2474-4dup duplication Methylcobalamin deficiency type cblG [RCV002063712]|not specified [RCV000483468] Chr1:236874708..236874709 [GRCh38]
Chr1:237038008..237038009 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2003del (p.Asn668fs) deletion not provided [RCV000481590] Chr1:236859880 [GRCh38]
Chr1:237023180 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.3142_3144delinsACG (p.Ala1048Thr) indel not provided [RCV000481667] Chr1:236891267..236891269 [GRCh38]
Chr1:237054567..237054569 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.901C>G (p.Pro301Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001858021]|not provided [RCV000523352] Chr1:236825373 [GRCh38]
Chr1:236988673 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-16GAG[1] microsatellite not specified [RCV000478711] Chr1:236795686..236795688 [GRCh38]
Chr1:236958986..236958988 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.765-5del deletion not specified [RCV000487405] Chr1:236824110 [GRCh38]
Chr1:236987410 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1 copy number loss See cases [RCV000510546] Chr1:235797384..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000254.3(MTR):c.2014G>A (p.Glu672Lys) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099555]|Methylcobalamin deficiency type cblG [RCV001060907]|not provided [RCV000497911] Chr1:236859893 [GRCh38]
Chr1:237023193 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1 copy number loss See cases [RCV000510599] Chr1:234605553..240932205 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q43(chr1:236910511-237227743)x3 copy number gain See cases [RCV000511192] Chr1:236910511..237227743 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.11:g.(?_236795684)_(236897664_?)del deletion Methylcobalamin deficiency type cblG [RCV000642177] Chr1:236795684..236897664 [GRCh38]
Chr1:236958984..237060964 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_236849954)_(237205889_?)dup duplication Dilated cardiomyopathy 1AA [RCV000543238] Chr1:236686654..237042589 [GRCh38]
Chr1:236849954..237205889 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1954-6A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV000642167] Chr1:236859827 [GRCh38]
Chr1:237023127 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1067T>C (p.Leu356Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000642168] Chr1:236829260 [GRCh38]
Chr1:236992560 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099441]|Methylcobalamin deficiency type cblG [RCV000986574]|not provided [RCV001706693] Chr1:236803548 [GRCh38]
Chr1:236966848 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2044-11G>T single nucleotide variant not specified [RCV000603031] Chr1:236861114 [GRCh38]
Chr1:237024414 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2703A>G (p.Leu901=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001515179]|not provided [RCV001718996] Chr1:236885147 [GRCh38]
Chr1:237048447 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2165T>C (p.Leu722Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000642165] Chr1:236861246 [GRCh38]
Chr1:237024546 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.658C>T (p.Arg220Trp) single nucleotide variant Inborn genetic diseases [RCV003252720] Chr1:236815652 [GRCh38]
Chr1:236978952 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3007+20C>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002064100]|not specified [RCV000615157] Chr1:236889356 [GRCh38]
Chr1:237052656 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.764+16T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002062945]|not specified [RCV000601349] Chr1:236816559 [GRCh38]
Chr1:236979859 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2349C>T (p.Asp783=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000955895]|not provided [RCV003420055]|not specified [RCV000610119] Chr1:236863498 [GRCh38]
Chr1:237026798 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2473+14A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002529453]|not specified [RCV000616227] Chr1:236873854 [GRCh38]
Chr1:237037154 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1086C>G (p.Pro362=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001490946]|not specified [RCV000607789] Chr1:236831976 [GRCh38]
Chr1:236995276 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.409+15_409+17del microsatellite Methylcobalamin deficiency type cblG [RCV003767504]|not specified [RCV000613233] Chr1:236808784..236808786 [GRCh38]
Chr1:236972084..236972086 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096090]|Methylcobalamin deficiency type cblG [RCV001510095]|not provided [RCV003420057]|not specified [RCV000610737] Chr1:236891266 [GRCh38]
Chr1:237054566 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2043+10A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002063899]|not specified [RCV000616766] Chr1:236859932 [GRCh38]
Chr1:237023232 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2473+8G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV000955896]|not specified [RCV000613841] Chr1:236873848 [GRCh38]
Chr1:237037148 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2308C>T (p.Pro770Ser) single nucleotide variant Inborn genetic diseases [RCV003290895] Chr1:236863457 [GRCh38]
Chr1:237026757 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1847A>G (p.Asn616Ser) single nucleotide variant Inborn genetic diseases [RCV003274896] Chr1:236852982 [GRCh38]
Chr1:237016282 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3599-11G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002064362]|not specified [RCV000614174] Chr1:236896995 [GRCh38]
Chr1:237060295 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096089]|MTR-related disorder [RCV003945557]|Methylcobalamin deficiency type cblG [RCV001446269]|not specified [RCV000614771] Chr1:236891251 [GRCh38]
Chr1:237054551 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1266A>G (p.Leu422=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003514392]|not specified [RCV000607450] Chr1:236835624 [GRCh38]
Chr1:236998924 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1953+6G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001868036]|not specified [RCV000600237] Chr1:236853094 [GRCh38]
Chr1:237016394 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1575A>T (p.Lys525Asn) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000642166] Chr1:236850403 [GRCh38]
Chr1:237013703 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1395G>A (p.Gly465=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002065375]|not specified [RCV000601224] Chr1:236838479 [GRCh38]
Chr1:237001779 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3 copy number gain not provided [RCV000684707] Chr1:228529973..249181598 [GRCh37]
Chr1:1q42.13-44		 pathogenic
GRCh37/hg19 1q43(chr1:237050175-237314848)x3 copy number gain not provided [RCV000684712] Chr1:237050175..237314848 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.899C>T (p.Thr300Met) single nucleotide variant Inborn genetic diseases [RCV004025161]|Methylcobalamin deficiency type cblG [RCV000693672]|not provided [RCV003163171] Chr1:236825371 [GRCh38]
Chr1:236988671 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097763]|Inborn genetic diseases [RCV002534405]|Methylcobalamin deficiency type cblG [RCV000702716]|Methylcobalamin deficiency type cblG [RCV000765084]|not provided [RCV001547886] Chr1:236852997 [GRCh38]
Chr1:237016297 [GRCh37]
Chr1:1q43		 conflicting interpretations of pathogenicity|uncertain significance
NM_000254.3(MTR):c.385G>C (p.Ala129Pro) single nucleotide variant Homocystinuria [RCV001003946] Chr1:236808749 [GRCh38]
Chr1:236972049 [GRCh37]
Chr1:1q43		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q43-44(chr1:236617216-244515378)x1 copy number loss not provided [RCV000749402] Chr1:236617216..244515378 [GRCh37]
Chr1:1q43-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:232232335-249218992)x3 copy number gain not provided [RCV000749394] Chr1:232232335..249218992 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000254.3(MTR):c.609+1133A>C single nucleotide variant not provided [RCV001530888] Chr1:236813977 [GRCh38]
Chr1:236977277 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2043+111T>C single nucleotide variant not provided [RCV001541148] Chr1:236860033 [GRCh38]
Chr1:237023333 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.340-21C>T single nucleotide variant not provided [RCV001666980] Chr1:236808683 [GRCh38]
Chr1:236971983 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1696-193C>T single nucleotide variant not provided [RCV001667312] Chr1:236852328 [GRCh38]
Chr1:237015628 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1954-263T>C single nucleotide variant not provided [RCV001668682] Chr1:236859570 [GRCh38]
Chr1:237022870 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1485G>A (p.Met495Ile) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097761]|MTR-related disorder [RCV003916026]|Methylcobalamin deficiency type cblG [RCV000960635] Chr1:236838569 [GRCh38]
Chr1:237001869 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.34+215G>A single nucleotide variant not provided [RCV001611708] Chr1:236795952 [GRCh38]
Chr1:236959252 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1515+103A>C single nucleotide variant not provided [RCV001565171] Chr1:236838702 [GRCh38]
Chr1:237002002 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1695+222C>A single nucleotide variant not provided [RCV001534334] Chr1:236850745 [GRCh38]
Chr1:237014045 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3405+116del deletion not provided [RCV001645233] Chr1:236894659 [GRCh38]
Chr1:237057959 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3712-215_3712-210del deletion not provided [RCV001534999] Chr1:236897340..236897345 [GRCh38]
Chr1:237060640..237060645 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2776-163A>T single nucleotide variant not provided [RCV001709300] Chr1:236886129 [GRCh38]
Chr1:237049429 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.866-275G>A single nucleotide variant not provided [RCV001708431] Chr1:236825063 [GRCh38]
Chr1:236988363 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3144A>T (p.Ala1048=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096091] Chr1:236891269 [GRCh38]
Chr1:237054569 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3405+25G>A single nucleotide variant not provided [RCV001643422] Chr1:236894582 [GRCh38]
Chr1:237057882 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2776-139C>T single nucleotide variant not provided [RCV001547068] Chr1:236886153 [GRCh38]
Chr1:237049453 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.670-152A>G single nucleotide variant not provided [RCV001643493] Chr1:236816297 [GRCh38]
Chr1:236979597 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*3660G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096502] Chr1:236901304 [GRCh38]
Chr1:237064604 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3819A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096504] Chr1:236901463 [GRCh38]
Chr1:237064763 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3711+197_3711+198insGCGCGC microsatellite not provided [RCV001643906] Chr1:236897314..236897315 [GRCh38]
Chr1:237060614..237060615 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*4747G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096609] Chr1:236902391 [GRCh38]
Chr1:237065691 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1695+95_1695+97del microsatellite not provided [RCV001609465] Chr1:236850615..236850617 [GRCh38]
Chr1:237013915..237013917 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2044-2A>T single nucleotide variant not provided [RCV001575288] Chr1:236861123 [GRCh38]
Chr1:237024423 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*208C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096204] Chr1:236897852 [GRCh38]
Chr1:237061152 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000986575] Chr1:236850387 [GRCh38]
Chr1:237013687 [GRCh37]
Chr1:1q43		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000254.3(MTR):c.1077T>G (p.Gly359=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001468533] Chr1:236831967 [GRCh38]
Chr1:236995267 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-11_2044-9del deletion Methylcobalamin deficiency type cblG [RCV000881976] Chr1:236861114..236861116 [GRCh38]
Chr1:237024414..237024416 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3135C>T (p.His1045=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001487579] Chr1:236891260 [GRCh38]
Chr1:237054560 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1566G>C (p.Leu522=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001502416] Chr1:236850394 [GRCh38]
Chr1:237013694 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2851+9G>C single nucleotide variant not provided [RCV000944609] Chr1:236886376 [GRCh38]
Chr1:237049676 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2305-1G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001059608] Chr1:236863453 [GRCh38]
Chr1:237026753 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.349A>C (p.Met117Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001061955] Chr1:236808713 [GRCh38]
Chr1:236972013 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3188A>G (p.Tyr1063Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001062185] Chr1:236891313 [GRCh38]
Chr1:237054613 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.586A>G (p.Ile196Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001070551] Chr1:236812821 [GRCh38]
Chr1:236976121 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:234742890-239475761) copy number loss not provided [RCV000767541] Chr1:234742890..239475761 [GRCh37]
Chr1:1q42.3-43		 pathogenic
NM_000254.3(MTR):c.2971C>T (p.Arg991Ter) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000778973]|Methylcobalamin deficiency type cblG [RCV003514413] Chr1:236889300 [GRCh38]
Chr1:237052600 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000254.3(MTR):c.3490C>T (p.Arg1164Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000800792] Chr1:236895442 [GRCh38]
Chr1:237058742 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.250-1G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000778228]|Methylcobalamin deficiency type cblG [RCV003514412] Chr1:236806143 [GRCh38]
Chr1:236969443 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000254.3(MTR):c.865+1G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000778229] Chr1:236824220 [GRCh38]
Chr1:236987520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.996-5C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV000931504] Chr1:236829184 [GRCh38]
Chr1:236992484 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1743C>T (p.Ser581=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001392820]|not provided [RCV000841315] Chr1:236852568 [GRCh38]
Chr1:237015868 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2304+3A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV000820850] Chr1:236862346 [GRCh38]
Chr1:237025646 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.927+1G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV000795006] Chr1:236825400 [GRCh38]
Chr1:236988700 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.1522G>C (p.Glu508Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000800935] Chr1:236850350 [GRCh38]
Chr1:237013650 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1074T>C (p.Ser358=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000796051] Chr1:236829267 [GRCh38]
Chr1:236992567 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2476del (p.Asp825_Ile826insTer) deletion Methylcobalamin deficiency type cblG [RCV000805410] Chr1:236874728 [GRCh38]
Chr1:237038028 [GRCh37]
Chr1:1q43		 pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_000254.3(MTR):c.3227C>T (p.Thr1076Met) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097849]|Methylcobalamin deficiency type cblG [RCV000822394]|not provided [RCV001575637] Chr1:236894379 [GRCh38]
Chr1:237057679 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*318T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097948] Chr1:236897962 [GRCh38]
Chr1:237061262 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3823C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098251] Chr1:236901467 [GRCh38]
Chr1:237064767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5204A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098341] Chr1:236902848 [GRCh38]
Chr1:237066148 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*356G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097949] Chr1:236898000 [GRCh38]
Chr1:237061300 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1401A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098055] Chr1:236899045 [GRCh38]
Chr1:237062345 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*201T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096203] Chr1:236897845 [GRCh38]
Chr1:237061145 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2684A>C (p.Gln895Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000817918] Chr1:236885128 [GRCh38]
Chr1:237048428 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs) insertion Methylcobalamin deficiency type cblG [RCV000803188] Chr1:236859871..236859872 [GRCh38]
Chr1:237023171..237023172 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.3140A>T (p.Tyr1047Phe) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000804688] Chr1:236891265 [GRCh38]
Chr1:237054565 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3439C>T (p.Arg1147Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000805089] Chr1:236895391 [GRCh38]
Chr1:237058691 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.3514C>T (p.Arg1172Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000808000] Chr1:236895466 [GRCh38]
Chr1:237058766 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1941dup (p.Arg648fs) duplication not provided [RCV003312157] Chr1:236853075..236853076 [GRCh38]
Chr1:237016375..237016376 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.*3298G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099921] Chr1:236900942 [GRCh38]
Chr1:237064242 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-356C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095878] Chr1:236795348 [GRCh38]
Chr1:236958648 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-328T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095880] Chr1:236795376 [GRCh38]
Chr1:236958676 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-309G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095881] Chr1:236795395 [GRCh38]
Chr1:236958695 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*212C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096205] Chr1:236897856 [GRCh38]
Chr1:237061156 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*813G>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099743] Chr1:236898457 [GRCh38]
Chr1:237061757 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1709C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099828] Chr1:236899353 [GRCh38]
Chr1:237062653 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1150G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096312] Chr1:236898794 [GRCh38]
Chr1:237062094 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3175A>G (p.Ile1059Val) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097848] Chr1:236891300 [GRCh38]
Chr1:237054600 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*572C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097951] Chr1:236898216 [GRCh38]
Chr1:237061516 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4039C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098252] Chr1:236901683 [GRCh38]
Chr1:237064983 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_000254.3(MTR):c.*841C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099746] Chr1:236898485 [GRCh38]
Chr1:237061785 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q43(chr1:236830155-237990262)x1 copy number loss not provided [RCV000848050] Chr1:236830155..237990262 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1 copy number loss not provided [RCV001005193] Chr1:233843930..237971511 [GRCh37]
Chr1:1q42.2-43		 pathogenic
GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3 copy number gain not provided [RCV000846184] Chr1:235582580..249224684 [GRCh37]
Chr1:1q42.3-44		 pathogenic
NM_000254.3(MTR):c.2405+1G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001250117] Chr1:236863555 [GRCh38]
Chr1:237026855 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2473+3A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV001250118] Chr1:236873843 [GRCh38]
Chr1:237037143 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2472A>T (p.Ala824=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001233392] Chr1:236873839 [GRCh38]
Chr1:237037139 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2891A>G (p.Tyr964Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001220731] Chr1:236889220 [GRCh38]
Chr1:237052520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.127C>T (p.Arg43Trp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001221293] Chr1:236803520 [GRCh38]
Chr1:236966820 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1544T>G (p.Val515Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001225223] Chr1:236850372 [GRCh38]
Chr1:237013672 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2282T>A (p.Leu761His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001242321] Chr1:236862321 [GRCh38]
Chr1:237025621 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2308C>G (p.Pro770Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001210545] Chr1:236863457 [GRCh38]
Chr1:237026757 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2474-1G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001195906] Chr1:236874725 [GRCh38]
Chr1:237038025 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000986576] Chr1:236874734 [GRCh38]
Chr1:237038034 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.*5153T>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096611] Chr1:236902797 [GRCh38]
Chr1:237066097 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.762C>T (p.Leu254=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001250077] Chr1:236816541 [GRCh38]
Chr1:236979841 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2638G>A (p.Val880Ile) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101531] Chr1:236880798 [GRCh38]
Chr1:237044098 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2095G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101820] Chr1:236899739 [GRCh38]
Chr1:237063039 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1695+15G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097762]|Methylcobalamin deficiency type cblG [RCV003514465] Chr1:236850538 [GRCh38]
Chr1:237013838 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*4724G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001102013] Chr1:236902368 [GRCh38]
Chr1:237065668 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*169C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096202] Chr1:236897813 [GRCh38]
Chr1:237061113 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1098T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096311] Chr1:236898742 [GRCh38]
Chr1:237062042 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3762A>G (p.Lys1254=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003104497] Chr1:236897608 [GRCh38]
Chr1:237060908 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3077T>C (p.Leu1026Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003104265] Chr1:236891202 [GRCh38]
Chr1:237054502 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.866-94T>C single nucleotide variant not provided [RCV001575939] Chr1:236825244 [GRCh38]
Chr1:236988544 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2508C>G (p.Ser836=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003107720] Chr1:236874760 [GRCh38]
Chr1:237038060 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.461C>T (p.Ser154Phe) single nucleotide variant not provided [RCV001567911] Chr1:236810554 [GRCh38]
Chr1:236973854 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2473+95C>T single nucleotide variant not provided [RCV001662979] Chr1:236873935 [GRCh38]
Chr1:237037235 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.409+113A>G single nucleotide variant not provided [RCV001621277] Chr1:236808886 [GRCh38]
Chr1:236972186 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.609+999T>C single nucleotide variant not provided [RCV001614873] Chr1:236813843 [GRCh38]
Chr1:236977143 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.34+45C>T single nucleotide variant not provided [RCV001652682] Chr1:236795782 [GRCh38]
Chr1:236959082 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3711+196A>G single nucleotide variant not provided [RCV001554884] Chr1:236897314 [GRCh38]
Chr1:237060614 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2405+201G>A single nucleotide variant not provided [RCV001698871] Chr1:236863755 [GRCh38]
Chr1:237027055 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1330-169A>G single nucleotide variant not provided [RCV001636409] Chr1:236838245 [GRCh38]
Chr1:237001545 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.765-234G>A single nucleotide variant not provided [RCV001659349] Chr1:236823885 [GRCh38]
Chr1:236987185 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-145_2474-144insT insertion not provided [RCV001569436] Chr1:236874581..236874582 [GRCh38]
Chr1:237037881..237037882 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.503-5del deletion not provided [RCV002284699] Chr1:236812728 [GRCh38]
Chr1:236976028 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1760T>C (p.Met587Thr) single nucleotide variant not provided [RCV002284710] Chr1:236852585 [GRCh38]
Chr1:237015885 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1516-201G>A single nucleotide variant not provided [RCV001556887] Chr1:236850143 [GRCh38]
Chr1:237013443 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2406-106C>T single nucleotide variant not provided [RCV001562571] Chr1:236873667 [GRCh38]
Chr1:237036967 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2851+212C>T single nucleotide variant not provided [RCV001689162] Chr1:236886579 [GRCh38]
Chr1:237049879 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.409+254G>A single nucleotide variant not provided [RCV001616809] Chr1:236809027 [GRCh38]
Chr1:236972327 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3598+147_3598+150dup duplication not provided [RCV001639966] Chr1:236895696..236895697 [GRCh38]
Chr1:237058996..237058997 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2775+157G>T single nucleotide variant not provided [RCV001694006] Chr1:236885376 [GRCh38]
Chr1:236885376..236885377 [GRCh38]
Chr1:237048676 [GRCh37]
Chr1:237048676..237048677 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3711+194A>G single nucleotide variant not provided [RCV001570570] Chr1:236897312 [GRCh38]
Chr1:237060612 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-309A>C single nucleotide variant not provided [RCV001670527] Chr1:236874417 [GRCh38]
Chr1:237037717 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2305-314C>T single nucleotide variant not provided [RCV001541089] Chr1:236863140 [GRCh38]
Chr1:237026440 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1695+270G>A single nucleotide variant not provided [RCV001653368] Chr1:236850793 [GRCh38]
Chr1:237014093 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.928-238C>T single nucleotide variant not provided [RCV001686488] Chr1:236826591 [GRCh38]
Chr1:236989891 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.865+271G>T single nucleotide variant not provided [RCV001694543] Chr1:236824490 [GRCh38]
Chr1:236987790 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.996-195A>G single nucleotide variant not provided [RCV001559572] Chr1:236828994 [GRCh38]
Chr1:236992294 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2473+99_2473+103del deletion not provided [RCV001714434] Chr1:236873939..236873943 [GRCh38]
Chr1:237037239..237037243 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2043+172A>G single nucleotide variant not provided [RCV001715448] Chr1:236860094 [GRCh38]
Chr1:237023394 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3711+194_3711+195insTGCGCGCGCGCGCACGCGCGCG insertion not provided [RCV001665119] Chr1:236897312..236897313 [GRCh38]
Chr1:237060612..237060613 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.*3512G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101928] Chr1:236901156 [GRCh38]
Chr1:237064456 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*839T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099745] Chr1:236898483 [GRCh38]
Chr1:237061783 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1039C>T (p.Pro347Ser) single nucleotide variant Inborn genetic diseases [RCV002568626]|Methylcobalamin deficiency type cblG [RCV001245582] Chr1:236829232 [GRCh38]
Chr1:236992532 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5756C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001100125] Chr1:236903400 [GRCh38]
Chr1:237066700 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1089C>A (p.Phe363Leu) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095975] Chr1:236831979 [GRCh38]
Chr1:236995279 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1101G>A (p.Pro367=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095976]|Methylcobalamin deficiency type cblG [RCV003629147] Chr1:236831991 [GRCh38]
Chr1:236995291 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.*1087G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096310] Chr1:236898731 [GRCh38]
Chr1:237062031 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5000T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096610] Chr1:236902644 [GRCh38]
Chr1:237065944 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3008-4A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV001244091] Chr1:236891129 [GRCh38]
Chr1:237054429 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000254.3(MTR):c.1362T>G (p.Ala454=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV000913143] Chr1:236838446 [GRCh38]
Chr1:237001746 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2432dup (p.Cys812fs) duplication not provided [RCV001562225] Chr1:236873797..236873798 [GRCh38]
Chr1:237037097..237037098 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.2474-18del deletion Methylcobalamin deficiency type cblG [RCV001776255]|not provided [RCV001595148] Chr1:236874699 [GRCh38]
Chr1:237037999 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3443A>T (p.Glu1148Val) single nucleotide variant not provided [RCV002469692] Chr1:236895395 [GRCh38]
Chr1:237058695 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2020C>T (p.Arg674Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003774744]|See cases [RCV002253108] Chr1:236859899 [GRCh38]
Chr1:237023199 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NC_000001.11:g.236795178T>A single nucleotide variant not provided [RCV001718039] Chr1:236795178 [GRCh38]
Chr1:236958478 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1515+102C>T single nucleotide variant not provided [RCV001560670] Chr1:236838701 [GRCh38]
Chr1:237002001 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3 copy number gain not provided [RCV001005187] Chr1:228832737..240993877 [GRCh37]
Chr1:1q42.13-43		 pathogenic
NM_000254.3(MTR):c.2043+220G>A single nucleotide variant not provided [RCV001656712] Chr1:236860142 [GRCh38]
Chr1:237023442 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.249+244A>T single nucleotide variant not provided [RCV001608726] Chr1:236803886 [GRCh38]
Chr1:236967186 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2406-226T>C single nucleotide variant not provided [RCV001684793] Chr1:236873547 [GRCh38]
Chr1:237036847 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1330-311C>T single nucleotide variant not provided [RCV001695829] Chr1:236838103 [GRCh38]
Chr1:237001403 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3711+198A>G single nucleotide variant not provided [RCV001597418] Chr1:236897316 [GRCh38]
Chr1:237060616 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1516-83A>C single nucleotide variant not provided [RCV001593988] Chr1:236850261 [GRCh38]
Chr1:237013561 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.502+229G>A single nucleotide variant not provided [RCV001660931] Chr1:236810824 [GRCh38]
Chr1:236974124 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.609+903A>T single nucleotide variant not provided [RCV001678178] Chr1:236813747 [GRCh38]
Chr1:236977047 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2473+93_2473+95del deletion not provided [RCV001714433] Chr1:236873932..236873934 [GRCh38]
Chr1:237037232..237037234 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-173C>A single nucleotide variant not provided [RCV001656171] Chr1:236874553 [GRCh38]
Chr1:237037853 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1953+235G>T single nucleotide variant not provided [RCV001595408] Chr1:236853323 [GRCh38]
Chr1:237016623 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3204+170A>G single nucleotide variant not provided [RCV001619398] Chr1:236891499 [GRCh38]
Chr1:237054799 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.409+234C>A single nucleotide variant not provided [RCV001675465] Chr1:236809007 [GRCh38]
Chr1:236972307 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3205-49G>A single nucleotide variant not provided [RCV001686274] Chr1:236894308 [GRCh38]
Chr1:237057608 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.609+1365G>A single nucleotide variant not provided [RCV001598359] Chr1:236814209 [GRCh38]
Chr1:236977509 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1516-93T>C single nucleotide variant not provided [RCV001598438] Chr1:236850251 [GRCh38]
Chr1:237013551 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.866-40dup duplication not provided [RCV001638247] Chr1:236825293..236825294 [GRCh38]
Chr1:236988593..236988594 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1813-103A>G single nucleotide variant not provided [RCV001671015] Chr1:236852845 [GRCh38]
Chr1:237016145 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1516-91T>A single nucleotide variant not provided [RCV001673739] Chr1:236850253 [GRCh38]
Chr1:237013553 [GRCh37]
Chr1:1q43		 benign
NC_000001.11:g.236795232G>T single nucleotide variant not provided [RCV001649813] Chr1:236795232 [GRCh38]
Chr1:236958532 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2043+254G>T single nucleotide variant not provided [RCV001695364] Chr1:236860176 [GRCh38]
Chr1:237023476 [GRCh37]
Chr1:1q43		 benign
GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1 copy number loss not provided [RCV001537901] Chr1:231407943..237289859 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_000254.3(MTR):c.3031G>A (p.Asp1011Asn) single nucleotide variant Intellectual disability [RCV001252323] Chr1:236891156 [GRCh38]
Chr1:237054456 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3281G>A (p.Arg1094His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001059405] Chr1:236894433 [GRCh38]
Chr1:237057733 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-96C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097672] Chr1:236795608 [GRCh38]
Chr1:236958908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*314T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097947] Chr1:236897958 [GRCh38]
Chr1:237061258 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001071198] Chr1:236832025 [GRCh38]
Chr1:236995325 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NM_000254.3(MTR):c.2859C>G (p.Pro953=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101533] Chr1:236889188 [GRCh38]
Chr1:237052488 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*899G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101726] Chr1:236898543 [GRCh38]
Chr1:237061843 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4558A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001102011] Chr1:236902202 [GRCh38]
Chr1:237065502 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.450T>C (p.Asn150=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101433] Chr1:236810543 [GRCh38]
Chr1:236973843 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.443C>T (p.Pro148Leu) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101432]|Methylcobalamin deficiency type cblG [RCV003514466]|See cases [RCV002252317] Chr1:236810536 [GRCh38]
Chr1:236973836 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*56T>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101639] Chr1:236897700 [GRCh38]
Chr1:237061000 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1004C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101727] Chr1:236898648 [GRCh38]
Chr1:237061948 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1809C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101819] Chr1:236899453 [GRCh38]
Chr1:237062753 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_000254.3(MTR):c.2593A>G (p.Lys865Glu) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099557] Chr1:236874845 [GRCh38]
Chr1:237038145 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*826G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099744] Chr1:236898470 [GRCh38]
Chr1:237061770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*5756C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001100124] Chr1:236903400 [GRCh38]
Chr1:237066700 [GRCh37]
Chr1:1q43		 benign
NC_000001.11:g.236795083A>C single nucleotide variant not provided [RCV001695121] Chr1:236795083 [GRCh38]
Chr1:236958383 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001542450] Chr1:236862288 [GRCh38]
Chr1:237025588 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3406-296C>T single nucleotide variant not provided [RCV001670681] Chr1:236895062 [GRCh38]
Chr1:237058362 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-145A>T single nucleotide variant not provided [RCV001672089] Chr1:236874581 [GRCh38]
Chr1:237037881 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001058876]|Methylcobalamin deficiency type cblG [RCV002505621] Chr1:236850370 [GRCh38]
Chr1:237013670 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3711+194_3711+195insTG insertion not provided [RCV001681035] Chr1:236897312..236897313 [GRCh38]
Chr1:237060612..237060613 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2677-291G>C single nucleotide variant not provided [RCV001611393] Chr1:236884830 [GRCh38]
Chr1:237048130 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2304+294C>G single nucleotide variant not provided [RCV001667069] Chr1:236862637 [GRCh38]
Chr1:237025937 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2473+179C>T single nucleotide variant not provided [RCV001612349] Chr1:236874019 [GRCh38]
Chr1:237037319 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2473+117C>A single nucleotide variant not provided [RCV001609703] Chr1:236873957 [GRCh38]
Chr1:237037257 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1516-271T>C single nucleotide variant not provided [RCV001695591] Chr1:236850073 [GRCh38]
Chr1:237013373 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1329+175G>T single nucleotide variant not provided [RCV001652287] Chr1:236835862 [GRCh38]
Chr1:236999162 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1696-264GT[9] microsatellite not provided [RCV001709244] Chr1:236852257..236852258 [GRCh38]
Chr1:237015557..237015558 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1515+104T>C single nucleotide variant not provided [RCV001671603] Chr1:236838703 [GRCh38]
Chr1:237002003 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1696-264GT[11] microsatellite not provided [RCV001612817] Chr1:236852256..236852257 [GRCh38]
Chr1:237015556..237015557 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1129C>T (p.Arg377Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001038600] Chr1:236832019 [GRCh38]
Chr1:236995319 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.610-1G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001198173] Chr1:236815603 [GRCh38]
Chr1:236978903 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.1075+6T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095973] Chr1:236829274 [GRCh38]
Chr1:236992574 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2328G>T (p.Val776=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001099556]|Methylcobalamin deficiency type cblG [RCV003629148] Chr1:236863477 [GRCh38]
Chr1:237026777 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2411T>C (p.Ile804Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001236854] Chr1:236873778 [GRCh38]
Chr1:237037078 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*467A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097950] Chr1:236898111 [GRCh38]
Chr1:237061411 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*1350A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098054] Chr1:236898994 [GRCh38]
Chr1:237062294 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*2584C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098144] Chr1:236900228 [GRCh38]
Chr1:237063528 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*5297T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098342] Chr1:236902941 [GRCh38]
Chr1:237066241 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001232385] Chr1:236886329 [GRCh38]
Chr1:237049629 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*102G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101640] Chr1:236897746 [GRCh38]
Chr1:237061046 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*860A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101725] Chr1:236898504 [GRCh38]
Chr1:237061804 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*6081C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001102125] Chr1:236903725 [GRCh38]
Chr1:237067025 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3770G>T (p.Gly1257Val) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101638]|Inborn genetic diseases [RCV002558020]|Methylcobalamin deficiency type cblG [RCV001233199]|not provided [RCV001760074] Chr1:236897616 [GRCh38]
Chr1:237060916 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3389A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101927] Chr1:236901033 [GRCh38]
Chr1:237064333 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3554A>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101929] Chr1:236901198 [GRCh38]
Chr1:237064498 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4667C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001102012] Chr1:236902311 [GRCh38]
Chr1:237065611 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.-173G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001097671] Chr1:236795531 [GRCh38]
Chr1:236958831 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*4097C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098253] Chr1:236901741 [GRCh38]
Chr1:237065041 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.*5374C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001098343] Chr1:236903018 [GRCh38]
Chr1:237066318 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*2526G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096402] Chr1:236900170 [GRCh38]
Chr1:237063470 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.*3788A>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096503] Chr1:236901432 [GRCh38]
Chr1:237064732 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.-344C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001095879] Chr1:236795360 [GRCh38]
Chr1:236958660 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.502+13C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001101434]|Methylcobalamin deficiency type cblG [RCV002556042] Chr1:236810608 [GRCh38]
Chr1:236973908 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2861C>T (p.Thr954Met) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001096088]|Methylcobalamin deficiency type cblG [RCV002554891] Chr1:236889190 [GRCh38]
Chr1:237052490 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2852-3T>C single nucleotide variant Intellectual disability [RCV001252324]|Methylcobalamin deficiency type cblG [RCV001879852] Chr1:236889178 [GRCh38]
Chr1:237052478 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.739A>G (p.Ser247Gly) single nucleotide variant Intellectual disability [RCV001252325] Chr1:236816518 [GRCh38]
Chr1:236979818 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3032A>G (p.Asp1011Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001348963] Chr1:236891157 [GRCh38]
Chr1:237054457 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.340-3T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001315880] Chr1:236808701 [GRCh38]
Chr1:236972001 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2315A>G (p.Gln772Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001352530]|not provided [RCV001762610] Chr1:236863464 [GRCh38]
Chr1:237026764 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.68A>G (p.Asn23Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001299106] Chr1:236803461 [GRCh38]
Chr1:236966761 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1020T>G (p.Asn340Lys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001327671] Chr1:236829213 [GRCh38]
Chr1:236992513 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2436T>A (p.Cys812Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001294060] Chr1:236873803 [GRCh38]
Chr1:237037103 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.3172C>T (p.Pro1058Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001318668] Chr1:236891297 [GRCh38]
Chr1:237054597 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3430A>G (p.Arg1144Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001374261]|not provided [RCV001751739] Chr1:236895382 [GRCh38]
Chr1:237058682 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1075+130G>A single nucleotide variant not provided [RCV001786800] Chr1:236829398 [GRCh38]
Chr1:236992698 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.347G>A (p.Arg116Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001371713] Chr1:236808711 [GRCh38]
Chr1:236972011 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.866-252G>A single nucleotide variant not provided [RCV001538315] Chr1:236825086 [GRCh38]
Chr1:236988386 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3080G>A (p.Arg1027Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001371834] Chr1:236891205 [GRCh38]
Chr1:237054505 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2422G>A (p.Val808Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001373670] Chr1:236873789 [GRCh38]
Chr1:237037089 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1969G>C (p.Gly657Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001303258] Chr1:236859848 [GRCh38]
Chr1:237023148 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.609+1088G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001353054] Chr1:236813932 [GRCh38]
Chr1:236977232 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2915A>G (p.Tyr972Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003120532]|not provided [RCV001813071] Chr1:236889244 [GRCh38]
Chr1:237052544 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2966C>T (p.Pro989Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001345942] Chr1:236889295 [GRCh38]
Chr1:237052595 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_236849954)_(237551503_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003104046]|Dilated cardiomyopathy 1AA [RCV001372177] Chr1:236849954..237551503 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2326G>A (p.Val776Met) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001347387] Chr1:236863475 [GRCh38]
Chr1:237026775 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1953+3A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV001299700] Chr1:236853091 [GRCh38]
Chr1:237016391 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2953C>T (p.Arg985Trp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001326304] Chr1:236889282 [GRCh38]
Chr1:237052582 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.128G>A (p.Arg43Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001318367] Chr1:236803521 [GRCh38]
Chr1:236966821 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.755A>G (p.Glu252Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001306060] Chr1:236816534 [GRCh38]
Chr1:236979834 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2788_2791del (p.Leu930fs) deletion Methylcobalamin deficiency type cblG [RCV001353055] Chr1:236886301..236886304 [GRCh38]
Chr1:237049601..237049604 [GRCh37]
Chr1:1q43		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NM_000254.3(MTR):c.1594A>G (p.Asn532Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001369487]|not provided [RCV001550621] Chr1:236850422 [GRCh38]
Chr1:237013722 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2474-18_2474-17del deletion Methylcobalamin deficiency type cblG [RCV001522422] Chr1:236874708..236874709 [GRCh38]
Chr1:237038008..237038009 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1275A>G (p.Pro425=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001409714] Chr1:236835633 [GRCh38]
Chr1:236998933 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.610-6T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001405374] Chr1:236815598 [GRCh38]
Chr1:236978898 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2109A>G (p.Arg703=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001430780] Chr1:236861190 [GRCh38]
Chr1:237024490 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1515+133A>C single nucleotide variant not provided [RCV001534534] Chr1:236838732 [GRCh38]
Chr1:237002032 [GRCh37]
Chr1:1q43		 benign
NC_000001.11:g.236795215C>T single nucleotide variant not provided [RCV001534935] Chr1:236795215 [GRCh38]
Chr1:236958515 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2044-311C>G single nucleotide variant not provided [RCV001670492] Chr1:236860814 [GRCh38]
Chr1:237024114 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-19_2474-18inv inversion Methylcobalamin deficiency type cblG [RCV001495276] Chr1:236874707..236874708 [GRCh38]
Chr1:237038007..237038008 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2196+177G>C single nucleotide variant not provided [RCV001681667] Chr1:236861454 [GRCh38]
Chr1:237024754 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3205-468C>G single nucleotide variant not provided [RCV001688439] Chr1:236893889 [GRCh38]
Chr1:237057189 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1515+27A>G single nucleotide variant not provided [RCV001694912] Chr1:236838626 [GRCh38]
Chr1:237001926 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2406-275T>C single nucleotide variant not provided [RCV001670923] Chr1:236873498 [GRCh38]
Chr1:237036798 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2852-7C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV001465113] Chr1:236889174 [GRCh38]
Chr1:237052474 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-323A>G single nucleotide variant not provided [RCV001674036] Chr1:236860802 [GRCh38]
Chr1:237024102 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2405+199C>A single nucleotide variant not provided [RCV001671589] Chr1:236863753 [GRCh38]
Chr1:237027053 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-5_2474-4dup duplication Methylcobalamin deficiency type cblG [RCV003629193]|not provided [RCV001786515]|not specified [RCV001699961] Chr1:236874708..236874709 [GRCh38]
Chr1:237038008..237038009 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2775+43G>A single nucleotide variant not provided [RCV001673469] Chr1:236885262 [GRCh38]
Chr1:237048562 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1516-93del deletion not provided [RCV001684839] Chr1:236850251 [GRCh38]
Chr1:237013551 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.669+32_669+33insGTCT insertion not provided [RCV001671857] Chr1:236815692..236815693 [GRCh38]
Chr1:236978992..236978993 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-19T>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001511742]|not provided [RCV001673076] Chr1:236874707 [GRCh38]
Chr1:237038007 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-198G>A single nucleotide variant not provided [RCV001708301] Chr1:236874528 [GRCh38]
Chr1:237037828 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3599-245G>A single nucleotide variant not provided [RCV001672098] Chr1:236896761 [GRCh38]
Chr1:237060061 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3007+156T>A single nucleotide variant not provided [RCV001694916] Chr1:236889492 [GRCh38]
Chr1:237052792 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2474-19_2474-18del deletion not provided [RCV001589944] Chr1:236874699..236874700 [GRCh38]
Chr1:237037999..237038000 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-21T>C single nucleotide variant not provided [RCV001687305] Chr1:236861104 [GRCh38]
Chr1:237024404 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.3204+9G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001468412] Chr1:236891338 [GRCh38]
Chr1:237054638 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-8T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001468622] Chr1:236861117 [GRCh38]
Chr1:237024417 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-4del deletion Methylcobalamin deficiency type cblG [RCV001515816] Chr1:236874709 [GRCh38]
Chr1:237038009 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2135T>C (p.Leu712Pro) single nucleotide variant not provided [RCV001726791] Chr1:236861216 [GRCh38]
Chr1:237024516 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1291T>G (p.Phe431Val) single nucleotide variant Inborn genetic diseases [RCV002539757]|not provided [RCV001726790] Chr1:236835649 [GRCh38]
Chr1:236998949 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2355C>T (p.His785=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003104729] Chr1:236863504 [GRCh38]
Chr1:237026804 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2775+122A>G single nucleotide variant not provided [RCV001785974] Chr1:236885341 [GRCh38]
Chr1:237048641 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.959T>G (p.Val320Gly) single nucleotide variant not provided [RCV001772778] Chr1:236826860 [GRCh38]
Chr1:236990160 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2353C>A (p.His785Asn) single nucleotide variant not provided [RCV001772779] Chr1:236863502 [GRCh38]
Chr1:237026802 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.765-82A>G single nucleotide variant not provided [RCV001786259] Chr1:236824037 [GRCh38]
Chr1:236987337 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3053dup (p.Asn1018fs) duplication Methylcobalamin deficiency type cblG [RCV001782469] Chr1:236891176..236891177 [GRCh38]
Chr1:237054476..237054477 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.1325C>A (p.Ala442Glu) single nucleotide variant Inborn genetic diseases [RCV004641689]|Methylcobalamin deficiency type cblG [RCV002540417]|not provided [RCV001758731] Chr1:236835683 [GRCh38]
Chr1:236998983 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2656G>A (p.Ala886Thr) single nucleotide variant not provided [RCV001779606] Chr1:236880816 [GRCh38]
Chr1:237044116 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2474-20_2474-18del deletion not provided [RCV001733122] Chr1:236874699..236874701 [GRCh38]
Chr1:237037999..237038001 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-17A>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002074092]|not provided [RCV001787007] Chr1:236874709 [GRCh38]
Chr1:237038009 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001868469]|not provided [RCV001758360] Chr1:236859911 [GRCh38]
Chr1:237023211 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.34+139C>T single nucleotide variant not provided [RCV001779575] Chr1:236795876 [GRCh38]
Chr1:236959176 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1771C>T (p.Arg591Ter) single nucleotide variant not provided [RCV001806879] Chr1:236852596 [GRCh38]
Chr1:237015896 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2763T>C (p.Tyr921=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003629204]|not provided [RCV001816077] Chr1:236885207 [GRCh38]
Chr1:237048507 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2595-2A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003514527]|not provided [RCV001822021] Chr1:236880753 [GRCh38]
Chr1:237044053 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.356T>C (p.Met119Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001971406] Chr1:236808720 [GRCh38]
Chr1:236972020 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1251G>T (p.Met417Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001873055] Chr1:236835609 [GRCh38]
Chr1:236998909 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2405G>A (p.Arg802Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001971449] Chr1:236863554 [GRCh38]
Chr1:237026854 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3678A>G (p.Lys1226=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001864342] Chr1:236897085 [GRCh38]
Chr1:237060385 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1982T>C (p.Ile661Thr) single nucleotide variant Inborn genetic diseases [RCV003250427]|Methylcobalamin deficiency type cblG [RCV002043262]|not provided [RCV002292682] Chr1:236859861 [GRCh38]
Chr1:237023161 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2744A>T (p.Asp915Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001987404] Chr1:236885188 [GRCh38]
Chr1:237048488 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1409A>G (p.Asn470Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002045539] Chr1:236838493 [GRCh38]
Chr1:237001793 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1657T>C (p.Tyr553His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002025167] Chr1:236850485 [GRCh38]
Chr1:237013785 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2196+5G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002021202] Chr1:236861282 [GRCh38]
Chr1:237024582 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2890T>C (p.Tyr964His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002009022] Chr1:236889219 [GRCh38]
Chr1:237052519 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3217T>C (p.Ser1073Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001985339] Chr1:236894369 [GRCh38]
Chr1:237057669 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2304+4A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV001986149] Chr1:236862347 [GRCh38]
Chr1:237025647 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.80A>G (p.Gln27Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001947177] Chr1:236803473 [GRCh38]
Chr1:236966773 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3037G>A (p.Ala1013Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002003414] Chr1:236891162 [GRCh38]
Chr1:237054462 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2546G>C (p.Arg849Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002022017] Chr1:236874798 [GRCh38]
Chr1:237038098 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1583G>C (p.Gly528Ala) single nucleotide variant Inborn genetic diseases [RCV003365576]|Methylcobalamin deficiency type cblG [RCV001967273] Chr1:236850411 [GRCh38]
Chr1:237013711 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1812+1G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001837425] Chr1:236852638 [GRCh38]
Chr1:237015938 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.3395G>A (p.Arg1132Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001909023] Chr1:236894547 [GRCh38]
Chr1:237057847 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.349A>G (p.Met117Val) single nucleotide variant Inborn genetic diseases [RCV004651785]|Methylcobalamin deficiency type cblG [RCV001890777] Chr1:236808713 [GRCh38]
Chr1:236972013 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2594+3A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV001965829] Chr1:236874849 [GRCh38]
Chr1:237038149 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.13C>A (p.Leu5Ile) single nucleotide variant Inborn genetic diseases [RCV002547896]|Methylcobalamin deficiency type cblG [RCV002040078]|not provided [RCV002290778] Chr1:236795716 [GRCh38]
Chr1:236959016 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3704A>G (p.Lys1235Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002044262] Chr1:236897111 [GRCh38]
Chr1:237060411 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.179C>G (p.Ala60Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001926656] Chr1:236803572 [GRCh38]
Chr1:236966872 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_237060286)_(237060944_?)dup duplication Methylcobalamin deficiency type cblG [RCV001969781] Chr1:237060286..237060944 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001823618] Chr1:236863553 [GRCh38]
Chr1:237026853 [GRCh37]
Chr1:1q43		 pathogenic|likely pathogenic
GRCh37/hg19 1q42.2-43(chr1:232226609-241010904) copy number loss not specified [RCV002052912] Chr1:232226609..241010904 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_000254.3(MTR):c.355A>G (p.Met119Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001947159] Chr1:236808719 [GRCh38]
Chr1:236972019 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1076-16T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001968378] Chr1:236831950 [GRCh38]
Chr1:236995250 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1752C>G (p.Phe584Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001894445] Chr1:236852577 [GRCh38]
Chr1:237015877 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.3-43(chr1:236508351-237427945) copy number gain not specified [RCV002052934] Chr1:236508351..237427945 [GRCh37]
Chr1:1q42.3-43		 uncertain significance
NM_000254.3(MTR):c.2346C>T (p.Gly782=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001888012] Chr1:236863495 [GRCh38]
Chr1:237026795 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.2101del (p.Tyr701fs) deletion Methylcobalamin deficiency type cblG [RCV001996785] Chr1:236861182 [GRCh38]
Chr1:237024482 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.452A>G (p.Lys151Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001941211] Chr1:236810545 [GRCh38]
Chr1:236973845 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2329C>G (p.Leu777Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001887302] Chr1:236863478 [GRCh38]
Chr1:237026778 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3322G>A (p.Glu1108Lys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002038113] Chr1:236894474 [GRCh38]
Chr1:237057774 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3383C>T (p.Ala1128Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001958449] Chr1:236894535 [GRCh38]
Chr1:237057835 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3460G>A (p.Gly1154Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001960255] Chr1:236895412 [GRCh38]
Chr1:237058712 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3205-196A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002010931] Chr1:236894161 [GRCh38]
Chr1:237057461 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2333C>T (p.Ala778Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001955062] Chr1:236863482 [GRCh38]
Chr1:237026782 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2851+2T>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002033483] Chr1:236886369 [GRCh38]
Chr1:237049669 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.1271G>A (p.Gly424Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002026596] Chr1:236835629 [GRCh38]
Chr1:236998929 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.325G>A (p.Gly109Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001867083] Chr1:236806219 [GRCh38]
Chr1:236969519 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1188+1G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001993759] Chr1:236832079 [GRCh38]
Chr1:236995379 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.3142G>A (p.Ala1048Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001877615] Chr1:236891267 [GRCh38]
Chr1:237054567 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2708A>G (p.Asp903Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001976950] Chr1:236885152 [GRCh38]
Chr1:237048452 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.901C>T (p.Pro301Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001992835] Chr1:236825373 [GRCh38]
Chr1:236988673 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2999A>G (p.Lys1000Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002025979] Chr1:236889328 [GRCh38]
Chr1:237052628 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_234509465)_(237995947_?)dup duplication Chédiak-Higashi syndrome [RCV001997077]|not provided [RCV002012084] Chr1:234509465..237995947 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NM_000254.3(MTR):c.3315T>C (p.Phe1105=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001956685] Chr1:236894467 [GRCh38]
Chr1:237057767 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3599-6C>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002009842] Chr1:236897000 [GRCh38]
Chr1:237060300 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.1943G>A (p.Arg648His) single nucleotide variant Inborn genetic diseases [RCV004041192]|Methylcobalamin deficiency type cblG [RCV001917222] Chr1:236853078 [GRCh38]
Chr1:237016378 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3155T>G (p.Val1052Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001979010] Chr1:236891280 [GRCh38]
Chr1:237054580 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.55C>T (p.Arg19Trp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001866866] Chr1:236803448 [GRCh38]
Chr1:236966748 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2117A>G (p.Asn706Ser) single nucleotide variant Inborn genetic diseases [RCV002552308]|Methylcobalamin deficiency type cblG [RCV001886223] Chr1:236861198 [GRCh38]
Chr1:237024498 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2020C>A (p.Arg674Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001877541] Chr1:236859899 [GRCh38]
Chr1:237023199 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.712G>A (p.Gly238Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001991294] Chr1:236816491 [GRCh38]
Chr1:236979791 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1348_1349inv (p.Ser450Asp) inversion Methylcobalamin deficiency type cblG [RCV001900684]|Methylcobalamin deficiency type cblG [RCV002482600] Chr1:236838432..236838433 [GRCh38]
Chr1:237001732..237001733 [GRCh37]
Chr1:1q43		 pathogenic|uncertain significance
NM_000254.3(MTR):c.821T>C (p.Ile274Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001931455] Chr1:236824175 [GRCh38]
Chr1:236987475 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3205-9G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV001980740] Chr1:236894348 [GRCh38]
Chr1:237057648 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3592T>C (p.Ser1198Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001939852] Chr1:236895544 [GRCh38]
Chr1:237058844 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3515G>C (p.Arg1172Pro) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001915962] Chr1:236895467 [GRCh38]
Chr1:237058767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2321C>T (p.Thr774Ile) single nucleotide variant Inborn genetic diseases [RCV002552210]|Methylcobalamin deficiency type cblG [RCV001886080] Chr1:236863470 [GRCh38]
Chr1:237026770 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2474-3T>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002050244] Chr1:236874723 [GRCh38]
Chr1:237038023 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.388G>A (p.Glu130Lys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002028033] Chr1:236808752 [GRCh38]
Chr1:236972052 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3008-3T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV001936817] Chr1:236891130 [GRCh38]
Chr1:237054430 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.761T>A (p.Leu254His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001882108] Chr1:236816540 [GRCh38]
Chr1:236979840 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3677A>G (p.Lys1226Arg) single nucleotide variant Inborn genetic diseases [RCV003348741]|Methylcobalamin deficiency type cblG [RCV002015836] Chr1:236897084 [GRCh38]
Chr1:237060384 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1986G>T (p.Gln662His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002018248] Chr1:236859865 [GRCh38]
Chr1:237023165 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1483A>G (p.Met495Val) single nucleotide variant Inborn genetic diseases [RCV002562040]|Methylcobalamin deficiency type cblG [RCV001959748] Chr1:236838567 [GRCh38]
Chr1:237001867 [GRCh37]
Chr1:1q43		 likely benign|uncertain significance
NM_000254.3(MTR):c.3315T>G (p.Phe1105Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001981037] Chr1:236894467 [GRCh38]
Chr1:237057767 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1855G>C (p.Val619Leu) single nucleotide variant Inborn genetic diseases [RCV004042011]|Methylcobalamin deficiency type cblG [RCV001940808] Chr1:236852990 [GRCh38]
Chr1:237016290 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1651A>G (p.Asn551Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001884308] Chr1:236850479 [GRCh38]
Chr1:237013779 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3463A>G (p.Ser1155Gly) single nucleotide variant Inborn genetic diseases [RCV002552762]|Methylcobalamin deficiency type cblG [RCV001885598] Chr1:236895415 [GRCh38]
Chr1:237058715 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.877A>G (p.Thr293Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001907510] Chr1:236825349 [GRCh38]
Chr1:236988649 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2171G>C (p.Gly724Ala) single nucleotide variant Inborn genetic diseases [RCV002561475]|Methylcobalamin deficiency type cblG [RCV001952788] Chr1:236861252 [GRCh38]
Chr1:237024552 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2294T>C (p.Val765Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001867117] Chr1:236862333 [GRCh38]
Chr1:237025633 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2665A>C (p.Ser889Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001881223] Chr1:236880825 [GRCh38]
Chr1:237044125 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2021G>A (p.Arg674His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001900088] Chr1:236859900 [GRCh38]
Chr1:237023200 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000254.3(MTR):c.3250G>T (p.Asp1084Tyr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001879404] Chr1:236894402 [GRCh38]
Chr1:237057702 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3717G>C (p.Glu1239Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV001974086] Chr1:236897563 [GRCh38]
Chr1:237060863 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu) indel Methylcobalamin deficiency type cblG [RCV001918955] Chr1:236803521..236803522 [GRCh38]
Chr1:236966821..236966822 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.632A>G (p.Asn211Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002033822] Chr1:236815626 [GRCh38]
Chr1:236978926 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_236849974)_(237995947_?)dup duplication Catecholaminergic polymorphic ventricular tachycardia [RCV001916236] Chr1:236849974..237995947 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3384G>A (p.Ala1128=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002185873] Chr1:236894536 [GRCh38]
Chr1:237057836 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.711C>T (p.Ser237=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002112776] Chr1:236816490 [GRCh38]
Chr1:236979790 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.9C>T (p.Pro3=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002092909] Chr1:236795712 [GRCh38]
Chr1:236959012 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1813-11A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002129011] Chr1:236852937 [GRCh38]
Chr1:237016237 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1695+7G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002188122] Chr1:236850530 [GRCh38]
Chr1:237013830 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.471A>G (p.Pro157=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002125939] Chr1:236810564 [GRCh38]
Chr1:236973864 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2013C>T (p.Val671=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002106318] Chr1:236859892 [GRCh38]
Chr1:237023192 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-18T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002129474] Chr1:236874708 [GRCh38]
Chr1:237038008 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1575A>G (p.Lys525=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002187453] Chr1:236850403 [GRCh38]
Chr1:237013703 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.558C>T (p.Gly186=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002111640]|not provided [RCV003418379] Chr1:236812793 [GRCh38]
Chr1:236976093 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2718T>C (p.Phe906=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002146766] Chr1:236885162 [GRCh38]
Chr1:237048462 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2776-16C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002168219] Chr1:236886276 [GRCh38]
Chr1:237049576 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.387C>T (p.Ala129=) single nucleotide variant MTR-related disorder [RCV003978786]|Methylcobalamin deficiency type cblG [RCV002089342] Chr1:236808751 [GRCh38]
Chr1:236972051 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1954-12A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002109618] Chr1:236859821 [GRCh38]
Chr1:237023121 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1329+15A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002107652] Chr1:236835702 [GRCh38]
Chr1:236999002 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1071G>A (p.Leu357=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002194781] Chr1:236829264 [GRCh38]
Chr1:236992564 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1696-18T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002078256] Chr1:236852503 [GRCh38]
Chr1:237015803 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1215G>A (p.Gln405=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002077513] Chr1:236835573 [GRCh38]
Chr1:236998873 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-19_2474-18insA insertion Methylcobalamin deficiency type cblG [RCV002150022] Chr1:236874707..236874708 [GRCh38]
Chr1:237038007..237038008 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2802A>G (p.Gln934=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002134720] Chr1:236886318 [GRCh38]
Chr1:237049618 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.444G>A (p.Pro148=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002194275] Chr1:236810537 [GRCh38]
Chr1:236973837 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3057A>G (p.Thr1019=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002213309] Chr1:236891182 [GRCh38]
Chr1:237054482 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.669+11A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002146265] Chr1:236815674 [GRCh38]
Chr1:236978974 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2594+18G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002152929] Chr1:236874864 [GRCh38]
Chr1:237038164 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.259C>T (p.Leu87=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002085678] Chr1:236806153 [GRCh38]
Chr1:236969453 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.865+12A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002106913] Chr1:236824231 [GRCh38]
Chr1:236987531 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.174T>C (p.Asp58=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002194322] Chr1:236803567 [GRCh38]
Chr1:236966867 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1189-11T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002194927] Chr1:236835536 [GRCh38]
Chr1:236998836 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-5_2474-4del deletion Methylcobalamin deficiency type cblG [RCV002122860] Chr1:236874709..236874710 [GRCh38]
Chr1:237038009..237038010 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2446C>T (p.Leu816=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002117465] Chr1:236873813 [GRCh38]
Chr1:237037113 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2235C>T (p.Gly745=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002135594] Chr1:236862274 [GRCh38]
Chr1:237025574 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1959A>C (p.Gln653His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002179756] Chr1:236859838 [GRCh38]
Chr1:237023138 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.2405+13C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002200951] Chr1:236863567 [GRCh38]
Chr1:237026867 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.865+1GT[3] microsatellite Methylcobalamin deficiency type cblG [RCV002180637] Chr1:236824220..236824221 [GRCh38]
Chr1:236987520..236987521 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-20_2474-19insA insertion Methylcobalamin deficiency type cblG [RCV002144315] Chr1:236874706..236874707 [GRCh38]
Chr1:237038006..237038007 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3774C>T (p.Pro1258=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002117693]|not provided [RCV003418382] Chr1:236897620 [GRCh38]
Chr1:237060920 [GRCh37]
Chr1:1q43		 benign|likely benign
NM_000254.3(MTR):c.2118T>C (p.Asn706=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002163271] Chr1:236861199 [GRCh38]
Chr1:237024499 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.135G>A (p.Lys45=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002143074] Chr1:236803528 [GRCh38]
Chr1:236966828 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1434G>A (p.Glu478=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002083791] Chr1:236838518 [GRCh38]
Chr1:237001818 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2196+12A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002154734] Chr1:236861289 [GRCh38]
Chr1:237024589 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2196+19G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002154735] Chr1:236861296 [GRCh38]
Chr1:237024596 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3252C>T (p.Asp1084=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002082839] Chr1:236894404 [GRCh38]
Chr1:237057704 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.685G>A (p.Val229Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002083167] Chr1:236816464 [GRCh38]
Chr1:236979764 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.1954-19G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002163063] Chr1:236859814 [GRCh38]
Chr1:237023114 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1076-11C>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002218673] Chr1:236831955 [GRCh38]
Chr1:236995255 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-20T>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002121573] Chr1:236874706 [GRCh38]
Chr1:237038006 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1311C>T (p.Ser437=) single nucleotide variant MTR-related disorder [RCV003950874]|Methylcobalamin deficiency type cblG [RCV002159621] Chr1:236835669 [GRCh38]
Chr1:236998969 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2022C>T (p.Arg674=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002154638] Chr1:236859901 [GRCh38]
Chr1:237023201 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.759A>C (p.Pro253=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002161762] Chr1:236816538 [GRCh38]
Chr1:236979838 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-16A>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002183218] Chr1:236874710 [GRCh38]
Chr1:237038010 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.996-20T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002120593] Chr1:236829169 [GRCh38]
Chr1:236992469 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1425G>A (p.Lys475=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002161990] Chr1:236838509 [GRCh38]
Chr1:237001809 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2658G>A (p.Ala886=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002201840] Chr1:236880818 [GRCh38]
Chr1:237044118 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3030C>T (p.Tyr1010=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002117687] Chr1:236891155 [GRCh38]
Chr1:237054455 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2197-6T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002181522] Chr1:236862230 [GRCh38]
Chr1:237025530 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1647A>G (p.Glu549=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002143717] Chr1:236850475 [GRCh38]
Chr1:237013775 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2043+18G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002123623] Chr1:236859940 [GRCh38]
Chr1:237023240 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2775+19T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002158635] Chr1:236885238 [GRCh38]
Chr1:237048538 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.339+19C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002099342] Chr1:236806252 [GRCh38]
Chr1:236969552 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3552C>G (p.Thr1184=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002218101] Chr1:236895504 [GRCh38]
Chr1:237058804 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2043+9C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002182604] Chr1:236859931 [GRCh38]
Chr1:237023231 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3292G>T (p.Gly1098Cys) single nucleotide variant not provided [RCV003109908] Chr1:236894444 [GRCh38]
Chr1:237057744 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2857C>T (p.Pro953Ser) single nucleotide variant not provided [RCV003109912] Chr1:236889186 [GRCh38]
Chr1:237052486 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2829T>C (p.Asp943=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003112533] Chr1:236886345 [GRCh38]
Chr1:237049645 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.621T>G (p.Phe207Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003116999] Chr1:236815615 [GRCh38]
Chr1:236978915 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_236959004)_(237060944_?)dup duplication Methylcobalamin deficiency type cblG [RCV003122274] Chr1:236959004..237060944 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2356G>A (p.Asp786Asn) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003122001] Chr1:236863505 [GRCh38]
Chr1:237026805 [GRCh37]
Chr1:1q43		 uncertain significance
NC_000001.10:g.(?_236902582)_(237995947_?)del deletion Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003122351] Chr1:236902582..237995947 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) microsatellite Methylcobalamin deficiency type cblG [RCV002250130] Chr1:236861138..236861139 [GRCh38]
Chr1:237024438..237024439 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.842A>G (p.Tyr281Cys) single nucleotide variant Inborn genetic diseases [RCV003096199]|not provided [RCV002276305] Chr1:236824196 [GRCh38]
Chr1:236987496 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1 copy number loss See cases [RCV002292708] Chr1:233012994..249206918 [GRCh37]
Chr1:1q42.2-44		 pathogenic
NM_000254.3(MTR):c.2929C>T (p.Pro977Ser) single nucleotide variant not provided [RCV002292761] Chr1:236889258 [GRCh38]
Chr1:237052558 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.547C>G (p.Leu183Val) single nucleotide variant not provided [RCV003236096] Chr1:236812782 [GRCh38]
Chr1:236976082 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3560T>C (p.Leu1187Pro) single nucleotide variant not provided [RCV002281510] Chr1:236895512 [GRCh38]
Chr1:237058812 [GRCh37]
Chr1:1q43		 likely pathogenic|uncertain significance
NM_000254.3(MTR):c.2200A>G (p.Ile734Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002297277] Chr1:236862239 [GRCh38]
Chr1:237025539 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1 copy number loss not provided [RCV002474585] Chr1:232732121..243338216 [GRCh37]
Chr1:1q42.2-43		 pathogenic
NM_000254.3(MTR):c.2866A>G (p.Ile956Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002303513] Chr1:236889195 [GRCh38]
Chr1:237052495 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1 copy number loss not provided [RCV002474854] Chr1:232895447..238787061 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1 copy number loss not provided [RCV002474860] Chr1:232827966..240750334 [GRCh37]
Chr1:1q42.2-43		 uncertain significance
NM_000254.3(MTR):c.1549A>G (p.Thr517Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002305000] Chr1:236850377 [GRCh38]
Chr1:237013677 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1712C>G (p.Ala571Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002299051] Chr1:236852537 [GRCh38]
Chr1:237015837 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1174G>A (p.Ala392Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002301323] Chr1:236832064 [GRCh38]
Chr1:236995364 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3115A>G (p.Ser1039Gly) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002295659] Chr1:236891240 [GRCh38]
Chr1:237054540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.648A>T (p.Lys216Asn) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002295153] Chr1:236815642 [GRCh38]
Chr1:236978942 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3548A>G (p.His1183Arg) single nucleotide variant Inborn genetic diseases [RCV003097981]|Methylcobalamin deficiency type cblG [RCV002298335] Chr1:236895500 [GRCh38]
Chr1:237058800 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2196+15G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV003074520] Chr1:236861292 [GRCh38]
Chr1:237024592 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2474-17_2474-16inv inversion Methylcobalamin deficiency type cblG [RCV003015634] Chr1:236874709..236874710 [GRCh38]
Chr1:237038009..237038010 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1497T>A (p.Ala499=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002613779] Chr1:236838581 [GRCh38]
Chr1:237001881 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2523T>A (p.Ile841=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003014328] Chr1:236874775 [GRCh38]
Chr1:237038075 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3375G>A (p.Met1125Ile) single nucleotide variant Inborn genetic diseases [RCV002727226]|Methylcobalamin deficiency type cblG [RCV002727227] Chr1:236894527 [GRCh38]
Chr1:237057827 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3711+22_3711+23del microsatellite Methylcobalamin deficiency type cblG [RCV002972438] Chr1:236897137..236897138 [GRCh38]
Chr1:237060437..237060438 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1323C>T (p.Ile441=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002995300] Chr1:236835681 [GRCh38]
Chr1:236998981 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1394G>A (p.Gly465Glu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003033147] Chr1:236838478 [GRCh38]
Chr1:237001778 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3225C>T (p.Ser1075=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002618437] Chr1:236894377 [GRCh38]
Chr1:237057677 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.194G>A (p.Gly65Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002816659] Chr1:236803587 [GRCh38]
Chr1:236966887 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3234A>G (p.Pro1078=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003016839] Chr1:236894386 [GRCh38]
Chr1:237057686 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1247A>G (p.Asn416Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002903837] Chr1:236835605 [GRCh38]
Chr1:236998905 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.927+20C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV003075692] Chr1:236825419 [GRCh38]
Chr1:236988719 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2911G>A (p.Asp971Asn) single nucleotide variant Inborn genetic diseases [RCV002905724]|not provided [RCV003325620] Chr1:236889240 [GRCh38]
Chr1:237052540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.502+14A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002730268] Chr1:236810609 [GRCh38]
Chr1:236973909 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2472dup (p.Asp825fs) duplication Methylcobalamin deficiency type cblG [RCV002880567] Chr1:236873838..236873839 [GRCh38]
Chr1:237037138..237037139 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.963A>C (p.Gly321=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002994346] Chr1:236826864 [GRCh38]
Chr1:236990164 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2221A>G (p.Lys741Glu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003032559] Chr1:236862260 [GRCh38]
Chr1:237025560 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1695+6T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV003012363] Chr1:236850529 [GRCh38]
Chr1:237013829 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2180A>G (p.Lys727Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003095591] Chr1:236861261 [GRCh38]
Chr1:237024561 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2775+4A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003074773] Chr1:236885223 [GRCh38]
Chr1:237048523 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.502+21_502+24dup duplication Methylcobalamin deficiency type cblG [RCV003034884] Chr1:236810614..236810615 [GRCh38]
Chr1:236973914..236973915 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1188+19C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002972104] Chr1:236832097 [GRCh38]
Chr1:236995397 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_000254.3(MTR):c.2119A>G (p.Ile707Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002685835] Chr1:236861200 [GRCh38]
Chr1:237024500 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1330-2A>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002996912] Chr1:236838412 [GRCh38]
Chr1:237001712 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.2474-19_2474-17del deletion Methylcobalamin deficiency type cblG [RCV002913619] Chr1:236874707..236874709 [GRCh38]
Chr1:237038007..237038009 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1714A>C (p.Arg572=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002825515] Chr1:236852539 [GRCh38]
Chr1:237015839 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1040C>T (p.Pro347Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003055381] Chr1:236829233 [GRCh38]
Chr1:236992533 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.394G>A (p.Val132Ile) single nucleotide variant Inborn genetic diseases [RCV002762189] Chr1:236808758 [GRCh38]
Chr1:236972058 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1011T>A (p.Ala337=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002593283] Chr1:236829204 [GRCh38]
Chr1:236992504 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.63G>C (p.Glu21Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002914022] Chr1:236803456 [GRCh38]
Chr1:236966756 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.271G>C (p.Asp91His) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002928002] Chr1:236806165 [GRCh38]
Chr1:236969465 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2775+17G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002781236] Chr1:236885236 [GRCh38]
Chr1:237048536 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2043+8A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003100255] Chr1:236859930 [GRCh38]
Chr1:237023230 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1615A>G (p.Asn539Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003054323] Chr1:236850443 [GRCh38]
Chr1:237013743 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1549A>T (p.Thr517Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003036924] Chr1:236850377 [GRCh38]
Chr1:237013677 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1954-11T>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002780318] Chr1:236859822 [GRCh38]
Chr1:237023122 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3478G>A (p.Val1160Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002592208] Chr1:236895430 [GRCh38]
Chr1:237058730 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2594+20_2594+28dup duplication Methylcobalamin deficiency type cblG [RCV002998784] Chr1:236874864..236874865 [GRCh38]
Chr1:237038164..237038165 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.764G>A (p.Cys255Tyr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002795728] Chr1:236816543 [GRCh38]
Chr1:236979843 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2655C>T (p.Asp885=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002999172] Chr1:236880815 [GRCh38]
Chr1:237044115 [GRCh37]
Chr1:1q43		 benign
NM_000254.3(MTR):c.907A>G (p.Met303Val) single nucleotide variant Inborn genetic diseases [RCV002759148]|Methylcobalamin deficiency type cblG [RCV003778630] Chr1:236825379 [GRCh38]
Chr1:236988679 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2826G>A (p.Met942Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002590361] Chr1:236886342 [GRCh38]
Chr1:237049642 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.670-20T>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002626039] Chr1:236816429 [GRCh38]
Chr1:236979729 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.163G>C (p.Glu55Gln) single nucleotide variant Inborn genetic diseases [RCV002917131] Chr1:236803556 [GRCh38]
Chr1:236966856 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2474-18_2474-17insTA insertion Methylcobalamin deficiency type cblG [RCV002894132] Chr1:236874708..236874709 [GRCh38]
Chr1:237038008..237038009 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3184T>C (p.Phe1062Leu) single nucleotide variant Inborn genetic diseases [RCV002802651] Chr1:236891309 [GRCh38]
Chr1:237054609 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1269T>C (p.Asp423=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003043501] Chr1:236835627 [GRCh38]
Chr1:236998927 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.33C>T (p.Pro11=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002918590] Chr1:236795736 [GRCh38]
Chr1:236959036 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3695A>G (p.Lys1232Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002667899] Chr1:236897102 [GRCh38]
Chr1:237060402 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.409+17T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002711082] Chr1:236808790 [GRCh38]
Chr1:236972090 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-20T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002982706] Chr1:236861105 [GRCh38]
Chr1:237024405 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2565A>G (p.Pro855=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002625238] Chr1:236874817 [GRCh38]
Chr1:237038117 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.35-20A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002643090] Chr1:236803408 [GRCh38]
Chr1:236966708 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1953+12A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002595290] Chr1:236853100 [GRCh38]
Chr1:237016400 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2305-4C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002663670] Chr1:236863450 [GRCh38]
Chr1:237026750 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1256A>G (p.Asp419Gly) single nucleotide variant Inborn genetic diseases [RCV002826422] Chr1:236835614 [GRCh38]
Chr1:236998914 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3046A>G (p.Met1016Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003024268] Chr1:236891171 [GRCh38]
Chr1:237054471 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3205-15C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV002626990] Chr1:236894342 [GRCh38]
Chr1:237057642 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2044-11dup duplication Methylcobalamin deficiency type cblG [RCV002765750] Chr1:236861113..236861114 [GRCh38]
Chr1:237024413..237024414 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2745T>G (p.Asp915Glu) single nucleotide variant Inborn genetic diseases [RCV002803940] Chr1:236885189 [GRCh38]
Chr1:237048489 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2100dup (p.Tyr701fs) duplication Methylcobalamin deficiency type cblG [RCV003007971] Chr1:236861173..236861174 [GRCh38]
Chr1:237024473..237024474 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.627C>A (p.Leu209=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002765591] Chr1:236815621 [GRCh38]
Chr1:236978921 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.504A>G (p.Thr168=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002958869] Chr1:236812739 [GRCh38]
Chr1:236976039 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_000254.3(MTR):c.2531C>T (p.Ala844Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003085551] Chr1:236874783 [GRCh38]
Chr1:237038083 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2967G>T (p.Pro989=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002625069] Chr1:236889296 [GRCh38]
Chr1:237052596 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1812+12G>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV003024834] Chr1:236852649 [GRCh38]
Chr1:237015949 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3405+19G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002624675] Chr1:236894576 [GRCh38]
Chr1:237057876 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1189-14C>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV002919082] Chr1:236835533 [GRCh38]
Chr1:236998833 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2822A>T (p.Gln941Leu) single nucleotide variant Inborn genetic diseases [RCV004065905]|Methylcobalamin deficiency type cblG [RCV002642207] Chr1:236886338 [GRCh38]
Chr1:237049638 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.741C>T (p.Ser247=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003058276] Chr1:236816520 [GRCh38]
Chr1:236979820 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3204+11T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002700724] Chr1:236891340 [GRCh38]
Chr1:237054640 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.485C>T (p.Pro162Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003081840] Chr1:236810578 [GRCh38]
Chr1:236973878 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2862G>A (p.Thr954=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002650628] Chr1:236889191 [GRCh38]
Chr1:237052491 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1695+7G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV003091436] Chr1:236850530 [GRCh38]
Chr1:237013830 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1892G>C (p.Cys631Ser) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003049455] Chr1:236853027 [GRCh38]
Chr1:237016327 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2594+1_2594+36dup duplication Methylcobalamin deficiency type cblG [RCV002597755] Chr1:236874837..236874838 [GRCh38]
Chr1:237038137..237038138 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2108G>A (p.Arg703Gln) single nucleotide variant Inborn genetic diseases [RCV002939708]|Methylcobalamin deficiency type cblG [RCV003629243] Chr1:236861189 [GRCh38]
Chr1:237024489 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.296G>A (p.Ser99Asn) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003049239] Chr1:236806190 [GRCh38]
Chr1:236969490 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3115A>C (p.Ser1039Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002810320] Chr1:236891240 [GRCh38]
Chr1:237054540 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2858C>T (p.Pro953Leu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003027609] Chr1:236889187 [GRCh38]
Chr1:237052487 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.669+12dup duplication Methylcobalamin deficiency type cblG [RCV002833533] Chr1:236815672..236815673 [GRCh38]
Chr1:236978972..236978973 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1953+13G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002833564] Chr1:236853101 [GRCh38]
Chr1:237016401 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2682C>T (p.Ser894=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002670913] Chr1:236885126 [GRCh38]
Chr1:237048426 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3269A>G (p.His1090Arg) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002937847] Chr1:236894421 [GRCh38]
Chr1:237057721 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.136C>T (p.Leu46=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003029042] Chr1:236803529 [GRCh38]
Chr1:236966829 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3406-12T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002857411] Chr1:236895346 [GRCh38]
Chr1:237058646 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3007+7G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV003088830] Chr1:236889343 [GRCh38]
Chr1:237052643 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2601C>T (p.His867=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002922323] Chr1:236880761 [GRCh38]
Chr1:237044061 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2104C>A (p.Pro702Thr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002720236] Chr1:236861185 [GRCh38]
Chr1:237024485 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.984A>G (p.Pro328=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002922374] Chr1:236826885 [GRCh38]
Chr1:236990185 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2671G>A (p.Val891Met) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003048200] Chr1:236880831 [GRCh38]
Chr1:237044131 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1992T>A (p.Asp664Glu) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002602047] Chr1:236859871 [GRCh38]
Chr1:237023171 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3341A>G (p.Tyr1114Cys) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003062301] Chr1:236894493 [GRCh38]
Chr1:237057793 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.866-16A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002811734] Chr1:236825322 [GRCh38]
Chr1:236988622 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2213G>A (p.Arg738Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002715002] Chr1:236862252 [GRCh38]
Chr1:237025552 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3085C>T (p.Arg1029Trp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002938869] Chr1:236891210 [GRCh38]
Chr1:237054510 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.915C>T (p.Ala305=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002811179] Chr1:236825387 [GRCh38]
Chr1:236988687 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2218A>G (p.Met740Val) single nucleotide variant Inborn genetic diseases [RCV002809668] Chr1:236862257 [GRCh38]
Chr1:237025557 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3357C>T (p.Asp1119=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002629347] Chr1:236894509 [GRCh38]
Chr1:237057809 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.927+20del deletion Methylcobalamin deficiency type cblG [RCV003089519] Chr1:236825419 [GRCh38]
Chr1:236988719 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2242A>G (p.Ile748Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002746608] Chr1:236862281 [GRCh38]
Chr1:237025581 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1027C>G (p.Pro343Ala) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003062992] Chr1:236829220 [GRCh38]
Chr1:236992520 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1871A>C (p.His624Pro) single nucleotide variant Inborn genetic diseases [RCV003384338]|Methylcobalamin deficiency type cblG [RCV002602634] Chr1:236853006 [GRCh38]
Chr1:237016306 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3143_3144inv (p.Ala1048Val) inversion Methylcobalamin deficiency type cblG [RCV003061408] Chr1:236891268..236891269 [GRCh38]
Chr1:237054568..237054569 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1200dup (p.Val401fs) duplication Methylcobalamin deficiency type cblG [RCV002580621] Chr1:236835557..236835558 [GRCh38]
Chr1:236998857..236998858 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.1329+16del deletion Methylcobalamin deficiency type cblG [RCV003044213] Chr1:236835703 [GRCh38]
Chr1:236999003 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.860A>G (p.Asn287Ser) single nucleotide variant Inborn genetic diseases [RCV002920807] Chr1:236824214 [GRCh38]
Chr1:236987514 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.3405+21del deletion Methylcobalamin deficiency type cblG [RCV003068317] Chr1:236894577 [GRCh38]
Chr1:237057877 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.35-12C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV003069047] Chr1:236803416 [GRCh38]
Chr1:236966716 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2395A>G (p.Asn799Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002943894] Chr1:236863544 [GRCh38]
Chr1:237026844 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.614C>T (p.Ala205Val) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003069647] Chr1:236815608 [GRCh38]
Chr1:236978908 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2299G>C (p.Glu767Gln) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002582252] Chr1:236862338 [GRCh38]
Chr1:237025638 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2406-9G>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV003050104] Chr1:236873764 [GRCh38]
Chr1:237037064 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1095T>C (p.Ile365=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002722148] Chr1:236831985 [GRCh38]
Chr1:236995285 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1344C>T (p.Ile448=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003071787] Chr1:236838428 [GRCh38]
Chr1:237001728 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1189-18C>T single nucleotide variant Methylcobalamin deficiency type cblG [RCV003051168] Chr1:236835529 [GRCh38]
Chr1:236998829 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2594+5G>A single nucleotide variant Methylcobalamin deficiency type cblG [RCV002608715] Chr1:236874851 [GRCh38]
Chr1:237038151 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1330-5C>A single nucleotide variant MTR-related disorder [RCV003973633]|Methylcobalamin deficiency type cblG [RCV003050688] Chr1:236838409 [GRCh38]
Chr1:237001709 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2647G>A (p.Val883Ile) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002612934] Chr1:236880807 [GRCh38]
Chr1:237044107 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.1164A>G (p.Lys388=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002611371] Chr1:236832054 [GRCh38]
Chr1:236995354 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1329+14T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV002654681] Chr1:236835701 [GRCh38]
Chr1:236999001 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2045G>A (p.Gly682Asp) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002603882] Chr1:236861126 [GRCh38]
Chr1:237024426 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.126G>A (p.Gln42=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV002606666] Chr1:236803519 [GRCh38]
Chr1:236966819 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.141C>T (p.Asn47=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003071138] Chr1:236803534 [GRCh38]
Chr1:236966834 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003131618] Chr1:236897564 [GRCh38]
Chr1:237060864 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2858C>G (p.Pro953Arg) single nucleotide variant Inborn genetic diseases [RCV003220357] Chr1:236889187 [GRCh38]
Chr1:237052487 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 copy number loss Intellectual disability, autosomal dominant 22 [RCV003327725] Chr1:235215476..247005888 [GRCh38]
Chr1:1q42.3-44		 pathogenic
NM_000254.3(MTR):c.118A>G (p.Met40Val) single nucleotide variant not provided [RCV003329030] Chr1:236803511 [GRCh38]
Chr1:236966811 [GRCh37]
Chr1:1q43		 uncertain significance
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1 copy number loss Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 [RCV003327728] Chr1:230178121..243646135 [GRCh38]
Chr1:1q42.13-44		 pathogenic
NM_000254.3(MTR):c.2222A>G (p.Lys741Arg) single nucleotide variant not provided [RCV003331462] Chr1:236862261 [GRCh38]
Chr1:237025561 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2799_2803del (p.Ala935fs) deletion MTR-related disorder [RCV003421021]|Methylcobalamin deficiency type cblG [RCV003514640] Chr1:236886312..236886316 [GRCh38]
Chr1:237049612..237049616 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2474A>G (p.Asp825Gly) single nucleotide variant MTR-related disorder [RCV003393052] Chr1:236874726 [GRCh38]
Chr1:237038026 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.56G>A (p.Arg19Gln) single nucleotide variant Inborn genetic diseases [RCV003348428] Chr1:236803449 [GRCh38]
Chr1:236966749 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2314C>G (p.Gln772Glu) single nucleotide variant Inborn genetic diseases [RCV003372025] Chr1:236863463 [GRCh38]
Chr1:237026763 [GRCh37]
Chr1:1q43		 uncertain significance
NM_000254.3(MTR):c.2727C>A (p.Ile909=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003873173] Chr1:236885171 [GRCh38]
Chr1:237048471 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2197-5C>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003881148] Chr1:236862231 [GRCh38]
Chr1:237025531 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.18A>G (p.Gln6=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003874161] Chr1:236795721 [GRCh38]
Chr1:236959021 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.327C>T (p.Gly109=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003875635] Chr1:236806221 [GRCh38]
Chr1:236969521 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3699T>A (p.Ile1233=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003874731] Chr1:236897106 [GRCh38]
Chr1:237060406 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3114G>A (p.Gln1038=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003826130] Chr1:236891239 [GRCh38]
Chr1:237054539 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2637T>C (p.Pro879=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003826303] Chr1:236880797 [GRCh38]
Chr1:237044097 [GRCh37]
Chr1:1q43		 likely benign
GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1 copy number loss not provided [RCV003484077] Chr1:230231959..238032346 [GRCh37]
Chr1:1q42.13-43		 pathogenic
GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3 copy number gain not provided [RCV003484052] Chr1:229373250..249206595 [GRCh37]
Chr1:1q42.13-44		 pathogenic
NM_000254.3(MTR):c.3356dup (p.Asp1119fs) duplication MTR-related disorder [RCV003408410] Chr1:236894507..236894508 [GRCh38]
Chr1:237057807..237057808 [GRCh37]
Chr1:1q43		 likely pathogenic
NM_000254.3(MTR):c.2733A>G (p.Glu911=) single nucleotide variant not provided [RCV003414985] Chr1:236885177 [GRCh38]
Chr1:237048477 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3534C>T (p.Pro1178=) single nucleotide variant not provided [RCV003414986] Chr1:236895486 [GRCh38]
Chr1:237058786 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2109A>C (p.Arg703=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003515301] Chr1:236861190 [GRCh38]
Chr1:237024490 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.249+19C>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003516596] Chr1:236803661 [GRCh38]
Chr1:236966961 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1620C>T (p.Ile540=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630552] Chr1:236850448 [GRCh38]
Chr1:237013748 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3276C>T (p.Gly1092=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630554] Chr1:236894428 [GRCh38]
Chr1:237057728 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1188+7A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630713] Chr1:236832085 [GRCh38]
Chr1:236995385 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1329+19T>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630804] Chr1:236835706 [GRCh38]
Chr1:236999006 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.981A>C (p.Thr327=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630553] Chr1:236826882 [GRCh38]
Chr1:236990182 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.502+16A>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV003629517] Chr1:236810611 [GRCh38]
Chr1:236973911 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2087T>G (p.Leu696Ter) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003515047] Chr1:236861168 [GRCh38]
Chr1:237024468 [GRCh37]
Chr1:1q43		 pathogenic
NM_000254.3(MTR):c.2305-11T>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003515315] Chr1:236863443 [GRCh38]
Chr1:237026743 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.610-6T>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630561] Chr1:236815598 [GRCh38]
Chr1:236978898 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1758A>G (p.Gly586=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630562] Chr1:236852583 [GRCh38]
Chr1:237015883 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.660G>A (p.Arg220=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630944] Chr1:236815654 [GRCh38]
Chr1:236978954 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3008-5A>G single nucleotide variant Methylcobalamin deficiency type cblG [RCV003516490] Chr1:236891128 [GRCh38]
Chr1:237054428 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.1420C>T (p.Leu474=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003514005] Chr1:236838504 [GRCh38]
Chr1:237001804 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3744T>G (p.Ser1248=) single nucleotide variant Methylcobalamin deficiency type cblG [RCV003515427] Chr1:236897590 [GRCh38]
Chr1:237060890 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.2305-5T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630572] Chr1:236863449 [GRCh38]
Chr1:237026749 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.3599-5T>C single nucleotide variant Methylcobalamin deficiency type cblG [RCV003630577] Chr1:236897001 [GRCh38]
Chr1:237060301 [GRCh37]
Chr1:1q43		 likely benign
NM_000254.3(MTR):c.546A>G (p.Gly182=) single nucleotide variant Methylcobalamin deficiency type cblG [