MMADHC (metabolism of cobalamin associated D) - Rat Genome Database

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Gene: MMADHC (metabolism of cobalamin associated D) Homo sapiens
Analyze
Symbol: MMADHC
Name: metabolism of cobalamin associated D
RGD ID: 1346733
HGNC Page HGNC:25221
Description: Involved in cobalamin metabolic process. Located in mitochondrion. Is active in cytosol. Implicated in methylmalonic aciduria and homocystinuria type cblD.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C2orf25; cblD; CL25022; cobalamin trafficking protein CblD; methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; methylmalonic aciduria and homocystinuria type D protein, mitochondrial; methylmalonic aciduria and homocystinuria, cblD type; protein C2orf25, mitochondrial
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MMADHCP1   MMADHCP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382149,569,637 - 149,587,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2149,569,637 - 149,587,778 (-)EnsemblGRCh38hg38GRCh38
GRCh372150,426,151 - 150,444,289 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362150,134,397 - 150,152,523 (-)NCBINCBI36Build 36hg18NCBI36
Build 342150,251,659 - 150,269,785NCBI
Celera2144,039,995 - 144,058,186 (-)NCBICelera
Cytogenetic Map2q23.2NCBI
HuRef2142,325,245 - 142,343,436 (-)NCBIHuRef
CHM1_12150,432,065 - 150,450,246 (-)NCBICHM1_1
T2T-CHM13v2.02150,020,083 - 150,038,221 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:11042152   PMID:12477932   PMID:15489334   PMID:15815621   PMID:18187620   PMID:18385497   PMID:19913121   PMID:20301334   PMID:20301409   PMID:20301503  
PMID:20628086   PMID:21071249   PMID:21301993   PMID:21873635   PMID:22156578   PMID:22832074   PMID:23270877   PMID:23415655   PMID:24124411   PMID:24722857   PMID:26186194   PMID:26364851  
PMID:26483544   PMID:26496610   PMID:27173435   PMID:27499296   PMID:27771510   PMID:28514442   PMID:28939051   PMID:29987050   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
MMADHC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382149,569,637 - 149,587,775 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2149,569,637 - 149,587,778 (-)EnsemblGRCh38hg38GRCh38
GRCh372150,426,151 - 150,444,289 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362150,134,397 - 150,152,523 (-)NCBINCBI36Build 36hg18NCBI36
Build 342150,251,659 - 150,269,785NCBI
Celera2144,039,995 - 144,058,186 (-)NCBICelera
Cytogenetic Map2q23.2NCBI
HuRef2142,325,245 - 142,343,436 (-)NCBIHuRef
CHM1_12150,432,065 - 150,450,246 (-)NCBICHM1_1
T2T-CHM13v2.02150,020,083 - 150,038,221 (-)NCBIT2T-CHM13v2.0
Mmadhc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39250,169,893 - 50,189,033 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl250,169,893 - 50,186,813 (-)EnsemblGRCm39 Ensembl
GRCm38250,279,881 - 50,299,021 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl250,279,881 - 50,296,801 (-)EnsemblGRCm38mm10GRCm38
MGSCv37250,135,401 - 50,152,197 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36250,101,890 - 50,118,686 (-)NCBIMGSCv36mm8
Celera251,952,182 - 51,968,978 (-)NCBICelera
Cytogenetic Map2C1.1NCBI
cM Map228.92NCBI
Mmadhc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8355,117,832 - 55,135,735 (-)NCBIGRCr8
mRatBN7.2334,708,649 - 34,726,554 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl334,708,649 - 34,726,771 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx338,102,766 - 38,120,695 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0346,687,484 - 46,705,415 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0344,478,719 - 44,496,636 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0335,783,511 - 35,801,474 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl335,783,623 - 35,801,614 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0340,897,289 - 40,915,271 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4331,224,132 - 31,242,473 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1331,120,504 - 31,138,845 (-)NCBI
Celera332,887,861 - 32,905,961 (-)NCBICelera
Cytogenetic Map3q12NCBI
Mmadhc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544015,316,822 - 15,337,688 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544015,317,877 - 15,338,139 (-)NCBIChiLan1.0ChiLan1.0
MMADHC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21325,345,073 - 25,363,266 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B25,360,062 - 25,380,111 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B10,278,656 - 10,298,700 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B153,924,371 - 153,942,537 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B153,924,371 - 153,942,537 (-)Ensemblpanpan1.1panPan2
MMADHC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11951,154,227 - 51,177,950 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1951,154,249 - 51,177,836 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1951,275,857 - 51,300,346 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01952,628,133 - 52,652,640 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1952,628,045 - 52,652,584 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11951,296,784 - 51,321,270 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01951,405,022 - 51,429,713 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01952,805,790 - 52,830,278 (-)NCBIUU_Cfam_GSD_1.0
Mmadhc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303113,830,468 - 113,846,017 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493646927,771,937 - 27,787,233 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493646927,771,741 - 27,804,324 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MMADHC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl152,499,154 - 2,520,799 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1152,499,080 - 2,517,361 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2151,931,294 - 1,949,494 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MMADHC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11034,999,856 - 35,019,575 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1034,999,067 - 35,019,389 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040164,518,012 - 164,535,986 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mmadhc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248662,314,864 - 2,342,079 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248662,314,864 - 2,342,069 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MMADHC
299 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro) single nucleotide variant Homocystinuria, cblD type, variant 1 [RCV000000797]|Methylmalonic aciduria and homocystinuria type cblD [RCV003147271] Chr2:149570089 [GRCh38]
Chr2:150426603 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.545C>A (p.Thr182Asn) single nucleotide variant Homocystinuria, cblD type, variant 1 [RCV000000798] Chr2:149575775 [GRCh38]
Chr2:150432289 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) single nucleotide variant Cobalamin C disease [RCV001844002]|Homocystinuria, cblD type, variant 1 [RCV000000799]|Methylmalonic aciduria and homocystinuria type cblD [RCV001378885]|See cases [RCV002251849] Chr2:149570119 [GRCh38]
Chr2:150426633 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic|uncertain significance
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV000203371]|Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [RCV000000800] Chr2:149582217..149582224 [GRCh38]
Chr2:150438731..150438738 [GRCh37]
Chr2:2q23.2		 pathogenic|not provided
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000203332]|Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [RCV000000801] Chr2:149579643 [GRCh38]
Chr2:150436157 [GRCh37]
Chr2:2q23.2		 pathogenic|not provided
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV000203341]|Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [RCV000000802] Chr2:149579478..149579479 [GRCh38]
Chr2:150435992..150435993 [GRCh37]
Chr2:2q23.2		 pathogenic|not provided
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000000803]|not provided [RCV001818114] Chr2:149570117 [GRCh38]
Chr2:150426631 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV000000804] Chr2:149576495..149576496 [GRCh38]
Chr2:150433009..150433010 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.696+3_696+6del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV000000805] Chr2:149571079..149571082 [GRCh38]
Chr2:150427593..150427596 [GRCh37]
Chr2:2q23.2		 pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1 copy number loss See cases [RCV000054090] Chr2:147251948..157856378 [GRCh38]
Chr2:148009516..158712890 [GRCh37]
Chr2:147725986..158421136 [NCBI36]
Chr2:2q22.3-24.1		 pathogenic
GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1 copy number loss See cases [RCV000054091] Chr2:147590324..153496674 [GRCh38]
Chr2:148347892..154353187 [GRCh37]
Chr2:148064362..154061433 [NCBI36]
Chr2:2q22.3-23.3		 pathogenic
GRCh38/hg38 2q23.1-23.3(chr2:148303135-153274626)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054092]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054092]|See cases [RCV000054092] Chr2:148303135..153274626 [GRCh38]
Chr2:149060704..154131140 [GRCh37]
Chr2:148777174..153839386 [NCBI36]
Chr2:2q23.1-23.3		 pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3		 pathogenic
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000661940] Chr2:149575713 [GRCh38]
Chr2:150432227 [GRCh37]
Chr2:2q23.2		 uncertain significance
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 copy number gain See cases [RCV000135402] Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1		 pathogenic
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000259535]|MMADHC-related condition [RCV003937770]|Methylmalonic aciduria and homocystinuria type cblD [RCV000861484]|not provided [RCV003114366]|not specified [RCV000202753] Chr2:149571164 [GRCh38]
Chr2:150427678 [GRCh37]
Chr2:2q23.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1 copy number loss See cases [RCV000141056] Chr2:145471053..149582570 [GRCh38]
Chr2:146228621..150439084 [GRCh37]
Chr2:145945091..150147330 [NCBI36]
Chr2:2q22.3-23.2		 pathogenic
GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3 copy number gain See cases [RCV000142582] Chr2:146324191..156219125 [GRCh38]
Chr2:147081759..157075637 [GRCh37]
Chr2:146798229..156783883 [NCBI36]
Chr2:2q22.3-24.1		 pathogenic
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000401734]|Methylmalonic aciduria and homocystinuria type cblD [RCV000607888]|not specified [RCV000186036] Chr2:149576462 [GRCh38]
Chr2:150432976 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128816]|MMADHC-related condition [RCV003927725]|Methylmalonic aciduria and homocystinuria type cblD [RCV000641147]|not provided [RCV001091563]|not specified [RCV000186037] Chr2:149571135 [GRCh38]
Chr2:150427649 [GRCh37]
Chr2:2q23.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) single nucleotide variant MMADHC-related condition [RCV003977477]|Methylmalonic aciduria and homocystinuria type cblD [RCV001392148]|not provided [RCV000179493] Chr2:149575720 [GRCh38]
Chr2:150432234 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128927]|Methylmalonic aciduria and homocystinuria type cblD [RCV001035983] Chr2:149582208 [GRCh38]
Chr2:150438722 [GRCh37]
Chr2:2q23.2		 likely pathogenic|uncertain significance
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000295930]|Methylmalonic aciduria and homocystinuria type cblD [RCV000641150]|not provided [RCV003736723]|not specified [RCV000426507] Chr2:149576487 [GRCh38]
Chr2:150433001 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000353552]|Methylmalonic aciduria and homocystinuria type cblD [RCV000298719] Chr2:149579559 [GRCh38]
Chr2:150436073 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000320341]|Methylmalonic aciduria and homocystinuria type cblD [RCV000907095] Chr2:149575805 [GRCh38]
Chr2:150432319 [GRCh37]
Chr2:2q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.478+6T>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000289849]|Methylmalonic aciduria and homocystinuria type cblD [RCV000641148]|not provided [RCV001690094] Chr2:149576431 [GRCh38]
Chr2:150432945 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000304535]|Methylmalonic aciduria and homocystinuria type cblD [RCV001083973]|not provided [RCV000439505]|not specified [RCV000421018] Chr2:149582194 [GRCh38]
Chr2:150438708 [GRCh37]
Chr2:2q23.2		 benign|likely benign|uncertain significance
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs) insertion Methylmalonic aciduria and homocystinuria type cblD [RCV000203311] Chr2:149582220..149582221 [GRCh38]
Chr2:150438734..150438735 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.455dup (p.Cys153fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV000203351] Chr2:149576459..149576460 [GRCh38]
Chr2:150432973..150432974 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.228dup (p.Asn77fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV000203370] Chr2:149579574..149579575 [GRCh38]
Chr2:150436088..150436089 [GRCh37]
Chr2:2q23.2		 pathogenic|not provided
NM_015702.3(MMADHC):c.133dup (p.Ala45fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV000203409] Chr2:149582147..149582148 [GRCh38]
Chr2:150438661..150438662 [GRCh37]
Chr2:2q23.2		 pathogenic|not provided
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) single nucleotide variant Cobalamin C disease [RCV003155139]|Methylmalonic aciduria and homocystinuria type cblD [RCV001833299]|not provided [RCV000255676] Chr2:149576443 [GRCh38]
Chr2:150432957 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000324144]|MMADHC-related condition [RCV003947906]|Methylmalonic aciduria and homocystinuria type cblD [RCV001081306]|not provided [RCV000297142] Chr2:149575742 [GRCh38]
Chr2:150432256 [GRCh37]
Chr2:2q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000390056]|Methylmalonic aciduria and homocystinuria type cblD [RCV000641151]|not provided [RCV003736724]|not specified [RCV000443091] Chr2:149576503 [GRCh38]
Chr2:150433017 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.800A>G (p.His267Arg) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000312594]|Methylmalonic aciduria and homocystinuria type cblD [RCV000367307] Chr2:149570065 [GRCh38]
Chr2:150426579 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000392417]|Inborn genetic diseases [RCV003168498]|Methylmalonic aciduria and homocystinuria type cblD [RCV000338725] Chr2:149579549 [GRCh38]
Chr2:150436063 [GRCh37]
Chr2:2q23.2		 uncertain significance
GRCh37/hg19 2q23.1-23.3(chr2:149811293-151128706)x3 copy number gain See cases [RCV000240510] Chr2:149811293..151128706 [GRCh37]
Chr2:2q23.1-23.3		 uncertain significance
NM_015702.3(MMADHC):c.*267T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000286505]|Methylmalonic aciduria and homocystinuria type cblD [RCV000371582] Chr2:149569707 [GRCh38]
Chr2:150426221 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.*164A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000347488]|Methylmalonic aciduria and homocystinuria type cblD [RCV000283101] Chr2:149569810 [GRCh38]
Chr2:150426324 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.-49T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000325834]|Methylmalonic aciduria and homocystinuria type cblD [RCV000270732]|not specified [RCV000422673] Chr2:149587146 [GRCh38]
Chr2:150443660 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.479-22G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001775750]|not provided [RCV001711718]|not specified [RCV000252017] Chr2:149575863 [GRCh38]
Chr2:150432377 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.-145A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000305210]|Methylmalonic aciduria and homocystinuria type cblD [RCV000400865]|not provided [RCV001565985] Chr2:149587756 [GRCh38]
Chr2:150444270 [GRCh37]
Chr2:2q23.2		 benign|likely benign|uncertain significance
NM_015702.3(MMADHC):c.*241A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000398902]|Methylmalonic aciduria and homocystinuria type cblD [RCV000341597] Chr2:149569733 [GRCh38]
Chr2:150426247 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.*89T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000408333]|Methylmalonic aciduria and homocystinuria type cblD [RCV000362733]|not provided [RCV001672561] Chr2:149569885 [GRCh38]
Chr2:150426399 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.*126A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000400218]|Methylmalonic aciduria and homocystinuria type cblD [RCV000308104]|not provided [RCV001653608] Chr2:149569848 [GRCh38]
Chr2:150426362 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.-16A>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000329546]|Methylmalonic aciduria and homocystinuria type cblD [RCV000384071]|not specified [RCV000606686] Chr2:149587113 [GRCh38]
Chr2:150443627 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000318431]|Methylmalonic aciduria and homocystinuria type cblD [RCV000263308] Chr2:149570106 [GRCh38]
Chr2:150426620 [GRCh37]
Chr2:2q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.10-3T>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000264978]|Methylmalonic aciduria and homocystinuria type cblD [RCV000359722] Chr2:149582274 [GRCh38]
Chr2:150438788 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.371A>T (p.Gln124Leu) single nucleotide variant not provided [RCV000323620] Chr2:149579432 [GRCh38]
Chr2:150435946 [GRCh37]
Chr2:2q23.2		 uncertain significance
NC_000002.11:g.150432125_150432217del56 deletion not specified [RCV000360934] Chr2:150432125..150432217 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.-62G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000335480]|Methylmalonic aciduria and homocystinuria type cblD [RCV000280408] Chr2:149587673 [GRCh38]
Chr2:150444187 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001279361] Chr2:149569996 [GRCh38]
Chr2:150426510 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001279362] Chr2:149570019 [GRCh38]
Chr2:150426533 [GRCh37]
Chr2:2q23.2		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015702.3(MMADHC):c.-60G>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000374959]|Methylmalonic aciduria and homocystinuria type cblD [RCV000348362]|not provided [RCV000842638] Chr2:149587671 [GRCh38]
Chr2:150444185 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.-52-3C>G single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV000295566]|Methylmalonic aciduria and homocystinuria type cblD [RCV000389766] Chr2:149587152 [GRCh38]
Chr2:150443666 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.24_25del (p.Arg8fs) microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV000576880] Chr2:149582256..149582257 [GRCh38]
Chr2:150438770..150438771 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.-53+18C>T single nucleotide variant not specified [RCV000434153] Chr2:149587646 [GRCh38]
Chr2:150444160 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.420C>T (p.Tyr140=) single nucleotide variant MMADHC-related condition [RCV003959936]|Methylmalonic aciduria and homocystinuria type cblD [RCV000893581]|not specified [RCV000437776] Chr2:149576495 [GRCh38]
Chr2:150433009 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.9+17T>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002062491]|not specified [RCV000431290] Chr2:149587072 [GRCh38]
Chr2:150443586 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+14C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002058956]|not specified [RCV000442249] Chr2:149587075 [GRCh38]
Chr2:150443589 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001134453]|Methylmalonic aciduria and homocystinuria type cblD [RCV001081476]|not provided [RCV000421140]|not specified [RCV000478018] Chr2:149576442 [GRCh38]
Chr2:150432956 [GRCh37]
Chr2:2q23.2		 benign|likely benign
NM_015702.3(MMADHC):c.-8C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001131585]|Methylmalonic aciduria and homocystinuria type cblD [RCV001131584]|not specified [RCV000433059] Chr2:149587105 [GRCh38]
Chr2:150443619 [GRCh37]
Chr2:2q23.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_015702.3(MMADHC):c.-55C>G single nucleotide variant not specified [RCV000440149] Chr2:149587666 [GRCh38]
Chr2:150444180 [GRCh37]
Chr2:2q23.2		 likely benign
GRCh37/hg19 2q22.3-23.3(chr2:147063452-154796058)x1 copy number loss See cases [RCV000448667] Chr2:147063452..154796058 [GRCh37]
Chr2:2q22.3-23.3		 pathogenic
GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1 copy number loss See cases [RCV000448089] Chr2:148842506..152370040 [GRCh37]
Chr2:2q23.1-23.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q22.3-23.3(chr2:146913477-151531586)x1 copy number loss See cases [RCV000511626] Chr2:146913477..151531586 [GRCh37]
Chr2:2q22.3-23.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015702.3(MMADHC):c.819T>C (p.His273=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002065245]|not specified [RCV000612657] Chr2:149570046 [GRCh38]
Chr2:150426560 [GRCh37]
Chr2:2q23.2		 likely benign
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3		 drug response
NM_015702.3(MMADHC):c.609+8_609+100del deletion MMADHC-related condition [RCV003962798]|Methylmalonic aciduria and homocystinuria type cblD [RCV001502716]|not provided [RCV000726295]|not specified [RCV000614638] Chr2:149575611..149575703 [GRCh38]
Chr2:150432125..150432217 [GRCh37]
Chr2:2q23.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2q23.2-23.3(chr2:150134077-154848282)x1 copy number loss not provided [RCV000682154] Chr2:150134077..154848282 [GRCh37]
Chr2:2q23.2-23.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015702.3(MMADHC):c.479-114C>A single nucleotide variant not provided [RCV001646018] Chr2:149575955 [GRCh38]
Chr2:150432469 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001835948]|not provided [RCV000756344] Chr2:149570123 [GRCh38]
Chr2:150426637 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.610-192T>G single nucleotide variant not provided [RCV001570571] Chr2:149571363 [GRCh38]
Chr2:150427877 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.-52-26G>C single nucleotide variant not provided [RCV001648004] Chr2:149587175 [GRCh38]
Chr2:150443689 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001135921]|Methylmalonic aciduria and homocystinuria type cblD [RCV001135920] Chr2:149576542 [GRCh38]
Chr2:150433056 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.155-38A>G single nucleotide variant not provided [RCV001549968] Chr2:149579686 [GRCh38]
Chr2:150436200 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.612C>T (p.Phe204=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000884931] Chr2:149571169 [GRCh38]
Chr2:150427683 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-11dup duplication Methylmalonic aciduria and homocystinuria type cblD [RCV001515266] Chr2:149579656..149579657 [GRCh38]
Chr2:150436170..150436171 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.828A>G (p.Val276=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000943909] Chr2:149570037 [GRCh38]
Chr2:150426551 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000880192] Chr2:149570158 [GRCh38]
Chr2:150426672 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+9T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002540981] Chr2:149576428 [GRCh38]
Chr2:150432942 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001041753] Chr2:149570128 [GRCh38]
Chr2:150426642 [GRCh37]
Chr2:2q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NC_000002.12:g.(?_149569964)_(149587107_?)del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001032099] Chr2:150426478..150443621 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.246_247delinsAG (p.Cys82_His83delinsTer) indel Disorders of Intracellular Cobalamin Metabolism [RCV000779281] Chr2:149579556..149579557 [GRCh38]
Chr2:150436070..150436071 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.610-4G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000928077] Chr2:149571175 [GRCh38]
Chr2:150427689 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.531T>C (p.Thr177=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001401121] Chr2:149575789 [GRCh38]
Chr2:150432303 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.507T>C (p.Ala169=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001506318] Chr2:149575813 [GRCh38]
Chr2:150432327 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000941994] Chr2:149570010 [GRCh38]
Chr2:150426524 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.609+322_609+333del deletion not provided [RCV000842761] Chr2:149575378..149575389 [GRCh38]
Chr2:150431892..150431903 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000814185] Chr2:149576460 [GRCh38]
Chr2:150432974 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001279363]|not provided [RCV000997224] Chr2:149570122 [GRCh38]
Chr2:150426636 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000805239]|not provided [RCV003442088] Chr2:149582240 [GRCh38]
Chr2:150438754 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000986829] Chr2:149582145 [GRCh38]
Chr2:150438659 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.295_296del (p.Leu99fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV000791752] Chr2:149579507..149579508 [GRCh38]
Chr2:150436021..150436022 [GRCh37]
Chr2:2q23.2		 pathogenic
GRCh37/hg19 2q23.2(chr2:150438641-150438785)x0 copy number loss not provided [RCV000997722] Chr2:150438641..150438785 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.-136G>C single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001132636]|Methylmalonic aciduria and homocystinuria type cblD [RCV001132635] Chr2:149587747 [GRCh38]
Chr2:150444261 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.154+1G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV000802757] Chr2:149582126 [GRCh38]
Chr2:150438640 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128809]|Methylmalonic aciduria and homocystinuria type cblD [RCV000873687] Chr2:149570130 [GRCh38]
Chr2:150426644 [GRCh37]
Chr2:2q23.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.478+261A>T single nucleotide variant not provided [RCV000842760] Chr2:149576176 [GRCh38]
Chr2:150432690 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.303dup (p.Val102fs) duplication not provided [RCV001091989] Chr2:149579499..149579500 [GRCh38]
Chr2:150436013..150436014 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.556_557del (p.Met186fs) microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV001052184] Chr2:149575763..149575764 [GRCh38]
Chr2:150432277..150432278 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.10-1G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001062359] Chr2:149582272 [GRCh38]
Chr2:150438786 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter) single nucleotide variant Cobalamin C disease [RCV003226449]|Methylmalonic aciduria and homocystinuria type cblD [RCV001234309]|not provided [RCV003238852] Chr2:149571135 [GRCh38]
Chr2:150427649 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter) single nucleotide variant not provided [RCV003239208] Chr2:149571098 [GRCh38]
Chr2:150427612 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) single nucleotide variant Inborn genetic diseases [RCV003160503]|Methylmalonic aciduria and homocystinuria type cblD [RCV001062191] Chr2:149579492 [GRCh38]
Chr2:150436006 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.10-179T>A single nucleotide variant not provided [RCV001556020] Chr2:149582450 [GRCh38]
Chr2:150438964 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.154+187G>A single nucleotide variant not provided [RCV001556158] Chr2:149581940 [GRCh38]
Chr2:150438454 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.-52-150G>A single nucleotide variant not provided [RCV001649451] Chr2:149587299 [GRCh38]
Chr2:150443813 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.696+83G>A single nucleotide variant not provided [RCV001718422] Chr2:149571002 [GRCh38]
Chr2:150427516 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.609+167T>G single nucleotide variant not provided [RCV001588228] Chr2:149575544 [GRCh38]
Chr2:150432058 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001825816] Chr2:149575735 [GRCh38]
Chr2:150432249 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) single nucleotide variant Inborn genetic diseases [RCV004034632]|Methylmalonic aciduria and homocystinuria type cblD [RCV001239948] Chr2:149575763 [GRCh38]
Chr2:150432277 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.166G>A (p.Val56Met) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128926]|Methylmalonic aciduria and homocystinuria type cblD [RCV001128925] Chr2:149579637 [GRCh38]
Chr2:150436151 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.154+173_154+174insAAAAAG insertion not provided [RCV001717763] Chr2:149581953..149581954 [GRCh38]
Chr2:150438467..150438468 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.610-95T>C single nucleotide variant not provided [RCV001555286] Chr2:149571266 [GRCh38]
Chr2:150427780 [GRCh37]
Chr2:2q23.2		 likely benign
GRCh37/hg19 2q23.2-23.3(chr2:150322682-150616331)x3 copy number gain not provided [RCV001005335] Chr2:150322682..150616331 [GRCh37]
Chr2:2q23.2-23.3		 uncertain significance
NM_015702.3(MMADHC):c.10-30C>T single nucleotide variant not provided [RCV001596683] Chr2:149582301 [GRCh38]
Chr2:150438815 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.478+134G>A single nucleotide variant not provided [RCV001720802] Chr2:149576303 [GRCh38]
Chr2:150432817 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.-53+256C>G single nucleotide variant not provided [RCV001586862] Chr2:149587408 [GRCh38]
Chr2:150443922 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-72G>C single nucleotide variant not provided [RCV001637773] Chr2:149576614 [GRCh38]
Chr2:150433128 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.372+54_372+55dup duplication not provided [RCV001677527] Chr2:149579375..149579376 [GRCh38]
Chr2:150435889..150435890 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.697-3C>T single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128813]|Methylmalonic aciduria and homocystinuria type cblD [RCV001128812] Chr2:149570171 [GRCh38]
Chr2:150426685 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.696+13C>A single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128814]|Methylmalonic aciduria and homocystinuria type cblD [RCV001128815] Chr2:149571072 [GRCh38]
Chr2:150427586 [GRCh37]
Chr2:2q23.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002555952]|not provided [RCV001091564] Chr2:149579439 [GRCh38]
Chr2:150435953 [GRCh37]
Chr2:2q23.2		 uncertain significance
GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)x1 copy number loss not provided [RCV001005326] Chr2:147173792..158346266 [GRCh37]
Chr2:2q22.3-24.1		 pathogenic
GRCh37/hg19 2q23.2-23.3(chr2:150366040-150696735)x3 copy number gain not provided [RCV001005336] Chr2:150366040..150696735 [GRCh37]
Chr2:2q23.2-23.3		 likely benign
NM_015702.3(MMADHC):c.478+27A>T single nucleotide variant not provided [RCV001565027] Chr2:149576410 [GRCh38]
Chr2:150432924 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001229965] Chr2:149570101 [GRCh38]
Chr2:150426615 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.544dup (p.Thr182fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV001038948] Chr2:149575775..149575776 [GRCh38]
Chr2:150432289..150432290 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.699T>C (p.Phe233=) single nucleotide variant Disorders of Intracellular Cobalamin Metabolism [RCV001128810]|Methylmalonic aciduria and homocystinuria type cblD [RCV001128811] Chr2:149570166 [GRCh38]
Chr2:150426680 [GRCh37]
Chr2:2q23.2		 uncertain significance
NC_000002.12:g.(?_149569954)_(149587117_?)del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001032661] Chr2:150426468..150443631 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001333885] Chr2:149576509 [GRCh38]
Chr2:150433023 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.372+1G>T single nucleotide variant Cobalamin C disease [RCV001293569] Chr2:149579430 [GRCh38]
Chr2:150435944 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.9+255del deletion not provided [RCV001528035] Chr2:149586834 [GRCh38]
Chr2:150443348 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV001261554] Chr2:149570162..149570163 [GRCh38]
Chr2:150426676..150426677 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001315736] Chr2:149576501 [GRCh38]
Chr2:150433015 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.609+6T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001306367] Chr2:149575705 [GRCh38]
Chr2:150432219 [GRCh37]
Chr2:2q23.2		 uncertain significance
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396) copy number gain Global developmental delay [RCV001352659] Chr2:136473383..152727396 [GRCh37]
Chr2:2q21.3-23.3		 pathogenic
NM_015702.3(MMADHC):c.372+8G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001415113] Chr2:149579423 [GRCh38]
Chr2:150435937 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001341596] Chr2:149582129 [GRCh38]
Chr2:150438643 [GRCh37]
Chr2:2q23.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015702.3(MMADHC):c.10-9C>G single nucleotide variant MMADHC-related condition [RCV003953623]|Methylmalonic aciduria and homocystinuria type cblD [RCV001279364] Chr2:149582280 [GRCh38]
Chr2:150438794 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.666T>C (p.Ala222=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001486848] Chr2:149571115 [GRCh38]
Chr2:150427629 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.510T>C (p.Asn170=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001417536]|not provided [RCV003438782] Chr2:149575810 [GRCh38]
Chr2:150432324 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-4G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001504761] Chr2:149575845 [GRCh38]
Chr2:150432359 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.123G>A (p.Glu41=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001462662] Chr2:149582158 [GRCh38]
Chr2:150438672 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.513C>G (p.Gly171=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001428341] Chr2:149575807 [GRCh38]
Chr2:150432321 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-7T>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001454462] Chr2:149575848 [GRCh38]
Chr2:150432362 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.99T>C (p.Thr33=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001501245] Chr2:149582182 [GRCh38]
Chr2:150438696 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.432C>G (p.Ala144=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001488439] Chr2:149576483 [GRCh38]
Chr2:150432997 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-10dup duplication Methylmalonic aciduria and homocystinuria type cblD [RCV001443245] Chr2:149576550..149576551 [GRCh38]
Chr2:150433064..150433065 [GRCh37]
Chr2:2q23.2		 likely benign
NC_000002.11:g.(?_150443583)_(150443631_?)del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001385285] Chr2:150443583..150443631 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.615C>T (p.Ile205=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001430665] Chr2:149571166 [GRCh38]
Chr2:150427680 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.207T>C (p.Asp69=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001410214] Chr2:149579596 [GRCh38]
Chr2:150436110 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.372+8G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001426777] Chr2:149579423 [GRCh38]
Chr2:150435937 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.150T>C (p.Asp50=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001428120] Chr2:149582131 [GRCh38]
Chr2:150438645 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.822A>G (p.Val274=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001447304] Chr2:149570043 [GRCh38]
Chr2:150426557 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.672T>C (p.Phe224=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001432183] Chr2:149571109 [GRCh38]
Chr2:150427623 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-8C>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001461925] Chr2:149579656 [GRCh38]
Chr2:150436170 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.684A>C (p.Ser228=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001461983] Chr2:149571097 [GRCh38]
Chr2:150427611 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.885A>G (p.Gly295=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001473803] Chr2:149569980 [GRCh38]
Chr2:150426494 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-232del deletion not provided [RCV001593569] Chr2:149576073 [GRCh38]
Chr2:150432587 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.372+243A>C single nucleotide variant not provided [RCV001696331] Chr2:149579188 [GRCh38]
Chr2:150435702 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.478+266_478+267del microsatellite not provided [RCV001669609] Chr2:149576170..149576171 [GRCh38]
Chr2:150432684..150432685 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.459T>C (p.Cys153=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001500749] Chr2:149576456 [GRCh38]
Chr2:150432970 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.624T>C (p.Ala208=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001501207] Chr2:149571157 [GRCh38]
Chr2:150427671 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.466T>C (p.Leu156=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001490627] Chr2:149576449 [GRCh38]
Chr2:150432963 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-8C>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001458303] Chr2:149576550 [GRCh38]
Chr2:150433064 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.117G>A (p.Ser39=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001452516] Chr2:149582164 [GRCh38]
Chr2:150438678 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-7T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001458807] Chr2:149579655 [GRCh38]
Chr2:150436169 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.90C>G (p.Ala30=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001415961] Chr2:149582191 [GRCh38]
Chr2:150438705 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.708A>G (p.Pro236=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001398802] Chr2:149570157 [GRCh38]
Chr2:150426671 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.561T>G (p.Thr187=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001394190] Chr2:149575759 [GRCh38]
Chr2:150432273 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.192C>A (p.Pro64=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001484092] Chr2:149579611 [GRCh38]
Chr2:150436125 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003108306] Chr2:149575758 [GRCh38]
Chr2:150432272 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.471G>A (p.Leu157=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003108939] Chr2:149576444 [GRCh38]
Chr2:150432958 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.-52-79C>A single nucleotide variant not provided [RCV001776615] Chr2:149587228 [GRCh38]
Chr2:150443742 [GRCh37]
Chr2:2q23.2		 likely benign
GRCh37/hg19 2q22.2-23.3(chr2:142409401-152680804)x3 copy number gain not provided [RCV001834428] Chr2:142409401..152680804 [GRCh37]
Chr2:2q22.2-23.3		 pathogenic
GRCh37/hg19 2q22.2-23.3(chr2:143258712-152867819) copy number loss not specified [RCV002053238] Chr2:143258712..152867819 [GRCh37]
Chr2:2q22.2-23.3		 pathogenic
NM_015702.3(MMADHC):c.372+1G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001964039] Chr2:149579430 [GRCh38]
Chr2:150435944 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.479-11_479-9del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001964581] Chr2:149575850..149575852 [GRCh38]
Chr2:150432364..150432366 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001910302] Chr2:149576475 [GRCh38]
Chr2:150432989 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.373-16T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001985319] Chr2:149576558 [GRCh38]
Chr2:150433072 [GRCh37]
Chr2:2q23.2		 likely benign
GRCh37/hg19 2q23.1-23.3(chr2:148954840-150800195) copy number gain not specified [RCV002053249] Chr2:148954840..150800195 [GRCh37]
Chr2:2q23.1-23.3		 uncertain significance
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001890259] Chr2:149576481 [GRCh38]
Chr2:150432995 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001892458] Chr2:149582208 [GRCh38]
Chr2:150438722 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.237T>C (p.Gly79=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001999739] Chr2:149579566 [GRCh38]
Chr2:150436080 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-1G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002000507] Chr2:149576543 [GRCh38]
Chr2:150433057 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001877971] Chr2:149571118 [GRCh38]
Chr2:150427632 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.638_642del (p.Tyr213fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001958800] Chr2:149571139..149571143 [GRCh38]
Chr2:150427653..150427657 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs) microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV002016744] Chr2:149570100..149570101 [GRCh38]
Chr2:150426614..150426615 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001916592] Chr2:149582201 [GRCh38]
Chr2:150438715 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.154+1G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001977150] Chr2:149582126 [GRCh38]
Chr2:150438640 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.155-3C>T single nucleotide variant Inborn genetic diseases [RCV002625401]|Methylmalonic aciduria and homocystinuria type cblD [RCV001992104] Chr2:149579651 [GRCh38]
Chr2:150436165 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001936833] Chr2:149570057 [GRCh38]
Chr2:150426571 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.128_129del (p.His43fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001972601] Chr2:149582152..149582153 [GRCh38]
Chr2:150438666..150438667 [GRCh37]
Chr2:2q23.2		 pathogenic|likely pathogenic
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001982314] Chr2:149579607 [GRCh38]
Chr2:150436121 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.692T>A (p.Leu231Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001982023] Chr2:149571089 [GRCh38]
Chr2:150427603 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.433A>T (p.Arg145Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001974702] Chr2:149576482 [GRCh38]
Chr2:150432996 [GRCh37]
Chr2:2q23.2		 pathogenic
NC_000002.11:g.(?_150438631)_(150438795_?)del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001958782] Chr2:150438631..150438795 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001980638] Chr2:149576454 [GRCh38]
Chr2:150432968 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001885998] Chr2:149582154 [GRCh38]
Chr2:150438668 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.352C>T (p.Gln118Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001951055] Chr2:149579451 [GRCh38]
Chr2:150435965 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.105A>T (p.Gly35=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV001979074] Chr2:149582176 [GRCh38]
Chr2:150438690 [GRCh37]
Chr2:2q23.2		 likely benign|uncertain significance
NM_015702.3(MMADHC):c.585_588del (p.Arg197fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV001958633] Chr2:149575732..149575735 [GRCh38]
Chr2:150432246..150432249 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.309A>T (p.Leu103=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002187906] Chr2:149579494 [GRCh38]
Chr2:150436008 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.39C>T (p.Ser13=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002091428] Chr2:149582242 [GRCh38]
Chr2:150438756 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.30A>G (p.Arg10=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002209400] Chr2:149582251 [GRCh38]
Chr2:150438765 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.840C>T (p.Phe280=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002071069] Chr2:149570025 [GRCh38]
Chr2:150426539 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.456A>G (p.Thr152=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002191136] Chr2:149576459 [GRCh38]
Chr2:150432973 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.765T>C (p.Ser255=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002186987] Chr2:149570100 [GRCh38]
Chr2:150426614 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-12C>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002185471] Chr2:149571183 [GRCh38]
Chr2:150427697 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.741A>G (p.Glu247=) single nucleotide variant MMADHC-related condition [RCV003923617]|Methylmalonic aciduria and homocystinuria type cblD [RCV002105699] Chr2:149570124 [GRCh38]
Chr2:150426638 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.96G>T (p.Ser32=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002128068] Chr2:149582185 [GRCh38]
Chr2:150438699 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+12A>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002129487] Chr2:149587077 [GRCh38]
Chr2:150443591 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.885A>C (p.Gly295=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002210406] Chr2:149569980 [GRCh38]
Chr2:150426494 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.154+9A>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002164879] Chr2:149582118 [GRCh38]
Chr2:150438632 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002079354] Chr2:149571121 [GRCh38]
Chr2:150427635 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.48A>C (p.Pro16=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002186035] Chr2:149582233 [GRCh38]
Chr2:150438747 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.714A>C (p.Thr238=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002213859] Chr2:149570151 [GRCh38]
Chr2:150426665 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+18T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002149241] Chr2:149587071 [GRCh38]
Chr2:150443585 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.534A>G (p.Val178=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002112864] Chr2:149575786 [GRCh38]
Chr2:150432300 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.372+7T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002114206] Chr2:149579424 [GRCh38]
Chr2:150435938 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.393A>G (p.Glu131=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002095131] Chr2:149576522 [GRCh38]
Chr2:150433036 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-6T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002156444] Chr2:149575847 [GRCh38]
Chr2:150432361 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.601T>C (p.Leu201=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002118468] Chr2:149575719 [GRCh38]
Chr2:150432233 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.168G>A (p.Val56=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002184622] Chr2:149579635 [GRCh38]
Chr2:150436149 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.876A>G (p.Lys292=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002158533] Chr2:149569989 [GRCh38]
Chr2:150426503 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.537A>G (p.Thr179=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002143214] Chr2:149575783 [GRCh38]
Chr2:150432297 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-7T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002139005] Chr2:149575848 [GRCh38]
Chr2:150432362 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+7C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002156068] Chr2:149576430 [GRCh38]
Chr2:150432944 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.795T>C (p.Ile265=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002123640] Chr2:149570070 [GRCh38]
Chr2:150426584 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-12C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003110872] Chr2:149571183 [GRCh38]
Chr2:150427697 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del) microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV003116831] Chr2:149575743..149575745 [GRCh38]
Chr2:150432257..150432259 [GRCh37]
Chr2:2q23.2		 uncertain significance
NC_000002.11:g.(?_150443583)_(150443611_?)del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003119651] Chr2:150443583..150443611 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.678C>T (p.Asp226=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003121988] Chr2:149571103 [GRCh38]
Chr2:150427617 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.757G>A (p.Gly253Arg) single nucleotide variant not specified [RCV002266486] Chr2:149570108 [GRCh38]
Chr2:150426622 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.202del (p.Gln68fs) deletion Cobalamin C disease [RCV003231053] Chr2:149579601 [GRCh38]
Chr2:150436115 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002295940] Chr2:149570008 [GRCh38]
Chr2:150426522 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.318T>C (p.Pro106=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002858144] Chr2:149579485 [GRCh38]
Chr2:150435999 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.546_547del (p.Lys183fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003014016] Chr2:149575773..149575774 [GRCh38]
Chr2:150432287..150432288 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.184A>G (p.Met62Val) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002972358] Chr2:149579619 [GRCh38]
Chr2:150436133 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.151dup (p.Ile51fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV002838925] Chr2:149582129..149582130 [GRCh38]
Chr2:150438643..150438644 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.96G>A (p.Ser32=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002636047] Chr2:149582185 [GRCh38]
Chr2:150438699 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.192C>T (p.Pro64=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002815682] Chr2:149579611 [GRCh38]
Chr2:150436125 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+1G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002842526] Chr2:149576436 [GRCh38]
Chr2:150432950 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.236G>A (p.Gly79Asp) single nucleotide variant Inborn genetic diseases [RCV002708259] Chr2:149579567 [GRCh38]
Chr2:150436081 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002638976] Chr2:149570141 [GRCh38]
Chr2:150426655 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.653_654dup (p.Gly219fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV002695932] Chr2:149571126..149571127 [GRCh38]
Chr2:150427640..150427641 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002825200] Chr2:149579441 [GRCh38]
Chr2:150435955 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.360G>A (p.Val120=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002847191] Chr2:149579443 [GRCh38]
Chr2:150435957 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.723T>G (p.Thr241=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003039325] Chr2:149570142 [GRCh38]
Chr2:150426656 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.252C>T (p.Leu84=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003017995] Chr2:149579551 [GRCh38]
Chr2:150436065 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002923817] Chr2:149579504 [GRCh38]
Chr2:150436018 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.438A>G (p.Val146=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003038632] Chr2:149576477 [GRCh38]
Chr2:150432991 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.117G>T (p.Ser39=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002820722] Chr2:149582164 [GRCh38]
Chr2:150438678 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.537A>C (p.Thr179=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002780315] Chr2:149575783 [GRCh38]
Chr2:150432297 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.630A>G (p.Glu210=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002876589] Chr2:149571151 [GRCh38]
Chr2:150427665 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.486A>G (p.Glu162=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002627371] Chr2:149575834 [GRCh38]
Chr2:150432348 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002626242] Chr2:149570099 [GRCh38]
Chr2:150426613 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.519A>G (p.Leu173=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002933021] Chr2:149575801 [GRCh38]
Chr2:150432315 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003081841] Chr2:149582132 [GRCh38]
Chr2:150438646 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.638A>G (p.Tyr213Cys) single nucleotide variant Inborn genetic diseases [RCV002708565] Chr2:149571143 [GRCh38]
Chr2:150427657 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.240_241insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACATAGGTTTT (p.Asp81delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer) microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV002871782] Chr2:149579562..149579563 [GRCh38]
Chr2:150436076..150436077 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.138T>C (p.Ala46=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002711446] Chr2:149582143 [GRCh38]
Chr2:150438657 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.877T>C (p.Leu293=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002829652] Chr2:149569988 [GRCh38]
Chr2:150426502 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003024251] Chr2:149570078 [GRCh38]
Chr2:150426592 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.154+17A>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002720946] Chr2:149582110 [GRCh38]
Chr2:150438624 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002647405] Chr2:149570030 [GRCh38]
Chr2:150426544 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.610-9C>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003045321] Chr2:149571180 [GRCh38]
Chr2:150427694 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-14C>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003089494] Chr2:149576556 [GRCh38]
Chr2:150433070 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003063007] Chr2:149582168 [GRCh38]
Chr2:150438682 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.176A>C (p.Asp59Ala) single nucleotide variant Inborn genetic diseases [RCV002702807] Chr2:149579627 [GRCh38]
Chr2:150436141 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.202C>T (p.Gln68Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002716105] Chr2:149579601 [GRCh38]
Chr2:150436115 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002647731] Chr2:149579558 [GRCh38]
Chr2:150436072 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.111A>C (p.Ser37=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002601408] Chr2:149582170 [GRCh38]
Chr2:150438684 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-10T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003050077] Chr2:149579658 [GRCh38]
Chr2:150436172 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile) single nucleotide variant Inborn genetic diseases [RCV003269516]|Methylmalonic aciduria and homocystinuria type cblD [RCV002633947] Chr2:149575839 [GRCh38]
Chr2:150432353 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003067903] Chr2:149579631 [GRCh38]
Chr2:150436145 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.373-5C>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV002654882] Chr2:149576547 [GRCh38]
Chr2:150433061 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.9+1G>A single nucleotide variant Cobalamin C disease [RCV003155743]|Methylmalonic aciduria and homocystinuria type cblD [RCV003475537] Chr2:149587088 [GRCh38]
Chr2:150443602 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.664del (p.Ala222fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003470158] Chr2:149571117 [GRCh38]
Chr2:150427631 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.373-2A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003461867] Chr2:149576544 [GRCh38]
Chr2:150433058 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.549G>A (p.Lys183=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003873085] Chr2:149575771 [GRCh38]
Chr2:150432285 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.213G>A (p.Arg71=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003873153] Chr2:149579590 [GRCh38]
Chr2:150436104 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.563_566del (p.Val188fs) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003461870] Chr2:149575754..149575757 [GRCh38]
Chr2:150432268..150432271 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003461871] Chr2:149570136..149570137 [GRCh38]
Chr2:150426650..150426651 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003476511] Chr2:149570110 [GRCh38]
Chr2:150426624 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.479-2A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003461868] Chr2:149575843 [GRCh38]
Chr2:150432357 [GRCh37]
Chr2:2q23.2		 likely pathogenic
GRCh37/hg19 2q22.3-23.3(chr2:148406827-152954124)x1 copy number loss not provided [RCV003485050] Chr2:148406827..152954124 [GRCh37]
Chr2:2q22.3-23.3		 pathogenic
NM_015702.3(MMADHC):c.610-1G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003461869] Chr2:149571172 [GRCh38]
Chr2:150427686 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer) deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003470156] Chr2:149575749..149575753 [GRCh38]
Chr2:150432263..150432267 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003470157] Chr2:149570126 [GRCh38]
Chr2:150426640 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.478+10G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601423] Chr2:149576427 [GRCh38]
Chr2:150432941 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.696+16T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601346] Chr2:149571069 [GRCh38]
Chr2:150427583 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.372+8G>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601853] Chr2:149579423 [GRCh38]
Chr2:150435937 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.697-10A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600283] Chr2:149570178 [GRCh38]
Chr2:150426692 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-18G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600331] Chr2:149575859 [GRCh38]
Chr2:150432373 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.597G>C (p.Val199=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600697] Chr2:149575723 [GRCh38]
Chr2:150432237 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-17T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601952] Chr2:149579665 [GRCh38]
Chr2:150436179 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.391dup (p.Glu131fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV003602423] Chr2:149576523..149576524 [GRCh38]
Chr2:150433037..150433038 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.697-21_697-7dup duplication Methylmalonic aciduria and homocystinuria type cblD [RCV003494817] Chr2:149570174..149570175 [GRCh38]
Chr2:150426688..150426689 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-5C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600763] Chr2:149576547 [GRCh38]
Chr2:150433061 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.825T>C (p.Val275=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602255] Chr2:149570040 [GRCh38]
Chr2:150426554 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.891G>A (p.Ter297=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601996] Chr2:149569974 [GRCh38]
Chr2:150426488 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.634dup (p.Cys212fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV003602109] Chr2:149571146..149571147 [GRCh38]
Chr2:150427660..150427661 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.609+13A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601307] Chr2:149575698 [GRCh38]
Chr2:150432212 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.609+8T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601496] Chr2:149575703 [GRCh38]
Chr2:150432217 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-8C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003826598] Chr2:149576550 [GRCh38]
Chr2:150433064 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.864T>C (p.His288=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003496814] Chr2:149570001 [GRCh38]
Chr2:150426515 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-9C>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600938] Chr2:149571180 [GRCh38]
Chr2:150427694 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.697-16G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495708] Chr2:149570184 [GRCh38]
Chr2:150426698 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-16del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003881859] Chr2:149579664 [GRCh38]
Chr2:150436178 [GRCh37]
Chr2:2q23.2		 benign
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600888] Chr2:149571142 [GRCh38]
Chr2:150427656 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.171G>A (p.Trp57Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600522] Chr2:149579632 [GRCh38]
Chr2:150436146 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.249C>T (p.His83=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495889] Chr2:149579554 [GRCh38]
Chr2:150436068 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.588A>G (p.Glu196=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600760] Chr2:149575732 [GRCh38]
Chr2:150432246 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-4T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495927] Chr2:149576546 [GRCh38]
Chr2:150433060 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.697-18del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003601162] Chr2:149570186 [GRCh38]
Chr2:150426700 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600868] Chr2:149570154 [GRCh38]
Chr2:150426668 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.234A>T (p.Ile78=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495970] Chr2:149579569 [GRCh38]
Chr2:150436083 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.696+17T>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600634] Chr2:149571068 [GRCh38]
Chr2:150427582 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.233_248dup (p.His83_Leu84insArgPheTer) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV003495430] Chr2:149579554..149579555 [GRCh38]
Chr2:150436068..150436069 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.684A>T (p.Ser228=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003878778] Chr2:149571097 [GRCh38]
Chr2:150427611 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.538C>T (p.Gln180Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003494642] Chr2:149575782 [GRCh38]
Chr2:150432296 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.333A>G (p.Arg111=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600644] Chr2:149579470 [GRCh38]
Chr2:150435984 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.154+20G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601945] Chr2:149582107 [GRCh38]
Chr2:150438621 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-12_155-10del microsatellite Methylmalonic aciduria and homocystinuria type cblD [RCV003601834] Chr2:149579658..149579660 [GRCh38]
Chr2:150436172..150436174 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.57C>T (p.Cys19=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003496733] Chr2:149582224 [GRCh38]
Chr2:150438738 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.108A>G (p.Ser36=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601253] Chr2:149582173 [GRCh38]
Chr2:150438687 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.160C>A (p.Arg54=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601954] Chr2:149579643 [GRCh38]
Chr2:150436157 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-15T>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602077] Chr2:149575856 [GRCh38]
Chr2:150432370 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+15A>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601694] Chr2:149576422 [GRCh38]
Chr2:150432936 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.372+17A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602095] Chr2:149579414 [GRCh38]
Chr2:150435928 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-8C>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602097] Chr2:149576550 [GRCh38]
Chr2:150433064 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-18T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003494606] Chr2:149576560 [GRCh38]
Chr2:150433074 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+19A>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003830600] Chr2:149587070 [GRCh38]
Chr2:150443584 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.10-11G>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003599879] Chr2:149582282 [GRCh38]
Chr2:150438796 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.697-17C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600924] Chr2:149570185 [GRCh38]
Chr2:150426699 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.10-2A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602401] Chr2:149582273 [GRCh38]
Chr2:150438787 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.10-1G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602410] Chr2:149582272 [GRCh38]
Chr2:150438786 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.697-5C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600965] Chr2:149570173 [GRCh38]
Chr2:150426687 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.27C>T (p.Ala9=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602431] Chr2:149582254 [GRCh38]
Chr2:150438768 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-8C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600528] Chr2:149571179 [GRCh38]
Chr2:150427693 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+12A>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601007] Chr2:149587077 [GRCh38]
Chr2:150443591 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+8A>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602203] Chr2:149576429 [GRCh38]
Chr2:150432943 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+12T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003494927] Chr2:149576425 [GRCh38]
Chr2:150432939 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-6C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003599922] Chr2:149579654 [GRCh38]
Chr2:150436168 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-13T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495017] Chr2:149575854 [GRCh38]
Chr2:150432368 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.120T>C (p.Asp40=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600107] Chr2:149582161 [GRCh38]
Chr2:150438675 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.10-13G>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600514] Chr2:149582284 [GRCh38]
Chr2:150438798 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.307C>T (p.Leu103=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601184] Chr2:149579496 [GRCh38]
Chr2:150436010 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-16T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003600617] Chr2:149579664 [GRCh38]
Chr2:150436178 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.105A>G (p.Gly35=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003601542] Chr2:149582176 [GRCh38]
Chr2:150438690 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.618T>C (p.Asn206=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003602042] Chr2:149571163 [GRCh38]
Chr2:150427677 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-8del deletion Methylmalonic aciduria and homocystinuria type cblD [RCV003826604] Chr2:149571179 [GRCh38]
Chr2:150427693 [GRCh37]
Chr2:2q23.2		 likely benign
NC_000002.11:g.(?_150426150)_(150443664_150444177)dup duplication not specified [RCV003490803] Chr2:150426150..150443664 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.609+14T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003827253] Chr2:149575697 [GRCh38]
Chr2:150432211 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.155-2A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003496603] Chr2:149579650 [GRCh38]
Chr2:150436164 [GRCh37]
Chr2:2q23.2		 likely pathogenic
NM_015702.3(MMADHC):c.309A>C (p.Leu103=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495475] Chr2:149579494 [GRCh38]
Chr2:150436008 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.22dup (p.Arg8fs) duplication Methylmalonic aciduria and homocystinuria type cblD [RCV003496127] Chr2:149582258..149582259 [GRCh38]
Chr2:150438772..150438773 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.9+16C>T single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003496645] Chr2:149587073 [GRCh38]
Chr2:150443587 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.402T>A (p.Ile134=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495650] Chr2:149576513 [GRCh38]
Chr2:150433027 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.610-13A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003495673] Chr2:149571184 [GRCh38]
Chr2:150427698 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+7C>A single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003496827] Chr2:149576430 [GRCh38]
Chr2:150432944 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.479-20A>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003497247] Chr2:149575861 [GRCh38]
Chr2:150432375 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.566G>A (p.Trp189Ter) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003849524] Chr2:149575754 [GRCh38]
Chr2:150432268 [GRCh37]
Chr2:2q23.2		 pathogenic
NM_015702.3(MMADHC):c.373-13T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003817523] Chr2:149576555 [GRCh38]
Chr2:150433069 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.373-13T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003817543] Chr2:149576555 [GRCh38]
Chr2:150433069 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.9+17T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003837813] Chr2:149587072 [GRCh38]
Chr2:150443586 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.478+19T>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003843440] Chr2:149576418 [GRCh38]
Chr2:150432932 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.342T>C (p.Phe114=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003865106] Chr2:149579461 [GRCh38]
Chr2:150435975 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.697-4T>C single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003863142] Chr2:149570172 [GRCh38]
Chr2:150426686 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.609+11C>G single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003870292] Chr2:149575700 [GRCh38]
Chr2:150432214 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.531T>G (p.Thr177=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003870564] Chr2:149575789 [GRCh38]
Chr2:150432303 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.555T>C (p.Asp185=) single nucleotide variant Methylmalonic aciduria and homocystinuria type cblD [RCV003858501] Chr2:149575765 [GRCh38]
Chr2:150432279 [GRCh37]
Chr2:2q23.2		 likely benign
NM_015702.3(MMADHC):c.536C>T (p.Thr179Ile) single nucleotide variant Inborn genetic diseases [RCV004514599] Chr2:149575784 [GRCh38]
Chr2:150432298 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.845A>G (p.Asn282Ser) single nucleotide variant Inborn genetic diseases [RCV004514662] Chr2:149570020 [GRCh38]
Chr2:150426534 [GRCh37]
Chr2:2q23.2		 uncertain significance
NM_015702.3(MMADHC):c.-9C>T single nucleotide variant MMADHC-related condition [RCV003959500] Chr2:149587106 [GRCh38]
Chr2:150443620 [GRCh37]
Chr2:2q23.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:447
Count of miRNA genes:191
Interacting mature miRNAs:203
Transcripts:ENST00000303319, ENST00000422782, ENST00000428879, ENST00000460311
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S2131  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372150,426,230 - 150,426,359UniSTSGRCh37
Build 362150,134,476 - 150,134,605RGDNCBI36
Celera2144,040,078 - 144,040,207RGD
Cytogenetic Map2q23.2UniSTS
HuRef2142,325,328 - 142,325,457UniSTS
RH12678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372150,426,199 - 150,426,370UniSTSGRCh37
Build 362150,134,445 - 150,134,616RGDNCBI36
Celera2144,040,047 - 144,040,218RGD
Cytogenetic Map2q23.2UniSTS
HuRef2142,325,297 - 142,325,468UniSTS
GeneMap99-GB4 RH Map2501.96UniSTS
NCBI RH Map21063.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2432 2900 1719 620 1926 462 4355 2133 3543 411 1445 1606 171 1203 2788 4
Low 7 91 7 4 25 3 1 64 188 8 12 7 4 1 1 2 2
Below cutoff 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA857973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF060224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG610637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM456421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU570084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303319   ⟹   ENSP00000301920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2149,569,637 - 149,587,775 (-)Ensembl
RefSeq Acc Id: ENST00000422782   ⟹   ENSP00000408331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2149,569,672 - 149,587,778 (-)Ensembl
RefSeq Acc Id: ENST00000428879   ⟹   ENSP00000389060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2149,569,644 - 149,587,602 (-)Ensembl
RefSeq Acc Id: ENST00000460311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2149,586,889 - 149,587,726 (-)Ensembl
RefSeq Acc Id: NM_015702   ⟹   NP_056517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382149,569,637 - 149,587,775 (-)NCBI
GRCh372150,426,147 - 150,444,330 (-)RGD
Build 362150,134,397 - 150,152,523 (-)NCBI Archive
Celera2144,039,995 - 144,058,186 (-)RGD
HuRef2142,325,245 - 142,343,436 (-)RGD
CHM1_12150,432,065 - 150,450,246 (-)NCBI
T2T-CHM13v2.02150,020,083 - 150,038,221 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_056517   ⟸   NM_015702
- UniProtKB: D3DP91 (UniProtKB/Swiss-Prot),   B2R895 (UniProtKB/Swiss-Prot),   O95891 (UniProtKB/Swiss-Prot),   Q9H3L0 (UniProtKB/Swiss-Prot),   F8WEC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000389060   ⟸   ENST00000428879
RefSeq Acc Id: ENSP00000301920   ⟸   ENST00000303319
RefSeq Acc Id: ENSP00000408331   ⟸   ENST00000422782

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H3L0-F1-model_v2 AlphaFold Q9H3L0 1-296 view protein structure

Promoters
RGD ID:6861712
Promoter ID:EPDNEW_H4021
Type:initiation region
Name:MMADHC_1
Description:methylmalonic aciduria and homocystinuria, cblD type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382149,587,775 - 149,587,835EPDNEW
RGD ID:6797814
Promoter ID:HG_KWN:35369
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000332311,   OTTHUMT00000332313,   OTTHUMT00000332314,   OTTHUMT00000332315,   UC002TXB.1,   UC010FNU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362150,152,246 - 150,152,746 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25221 AgrOrtholog
COSMIC MMADHC COSMIC
Ensembl Genes ENSG00000168288 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303319 ENTREZGENE
  ENST00000303319.10 UniProtKB/Swiss-Prot
  ENST00000422782.2 UniProtKB/TrEMBL
  ENST00000428879.5 UniProtKB/Swiss-Prot
GTEx ENSG00000168288 GTEx
HGNC ID HGNC:25221 ENTREZGENE
Human Proteome Map MMADHC Human Proteome Map
InterPro MMADHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:27249 UniProtKB/Swiss-Prot
NCBI Gene 27249 ENTREZGENE
OMIM 611935 OMIM
PANTHER COBALAMIN TRAFFICKING PROTEIN CBLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13192 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MMADHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164723053 PharmGKB
UniProt B2R895 ENTREZGENE
  D3DP91 ENTREZGENE
  F8WEC0 ENTREZGENE, UniProtKB/TrEMBL
  MMAD_HUMAN UniProtKB/Swiss-Prot
  O95891 ENTREZGENE
  Q9H3L0 ENTREZGENE
UniProt Secondary B2R895 UniProtKB/Swiss-Prot
  D3DP91 UniProtKB/Swiss-Prot
  O95891 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-08-07 MMADHC  metabolism of cobalamin associated D  MMADHC  methylmalonic aciduria and homocystinuria, cblD type  Symbol and/or name change 5135510 APPROVED
2016-01-12 MMADHC  methylmalonic aciduria and homocystinuria, cblD type  MMADHC  methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria  Symbol and/or name change 5135510 APPROVED