ACSF3 (acyl-CoA synthetase family member 3) - Rat Genome Database

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Gene: ACSF3 (acyl-CoA synthetase family member 3) Homo sapiens
Analyze
Symbol: ACSF3
Name: acyl-CoA synthetase family member 3
RGD ID: 1604214
HGNC Page HGNC:27288
Description: Enables malonyl-CoA synthetase activity and very long-chain fatty acid-CoA ligase activity. Involved in fatty acid biosynthetic process and malonate catabolic process. Located in mitochondrion and nucleoplasm. Implicated in combined malonic and methylmalonic acidemia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acyl-CoA synthetase family member 3, mitochondrial; FLJ39242; malonate--CoA ligase ACSF3, mitochondrial; malonyl-CoA synthetase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,093,852 - 89,156,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,088,375 - 89,164,121 (+)EnsemblGRCh38hg38GRCh38
GRCh371689,160,260 - 89,222,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,687,825 - 87,749,670 (+)NCBINCBI36Build 36hg18NCBI36
Celera1674,226,564 - 74,287,794 (+)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1674,859,689 - 74,921,455 (+)NCBIHuRef
CHM1_11690,571,314 - 90,633,459 (+)NCBICHM1_1
T2T-CHM13v2.01695,173,811 - 95,236,254 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrial matrix  (TAS)
mitochondrion  (HTP,IBA,IDA,IEA)
nucleoplasm  (IDA)

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:12477932   PMID:14702039   PMID:16303743   PMID:16344560   PMID:17762044   PMID:18029348   PMID:20877624   PMID:21642549   PMID:21785126   PMID:21841779   PMID:21846720   PMID:21857022  
PMID:21873635   PMID:22420028   PMID:22658674   PMID:23337955   PMID:23864651   PMID:24035498   PMID:26186194   PMID:26496610   PMID:28380382   PMID:28479296   PMID:28514442   PMID:28611215  
PMID:29564676   PMID:29568061   PMID:30201289   PMID:30740739   PMID:31091453   PMID:31376476   PMID:32296183   PMID:32628020   PMID:32877691   PMID:33961781   PMID:34079125   PMID:34800366  
PMID:35256949   PMID:35509820   PMID:35545034   PMID:36215168   PMID:37827155  


Genomics

Comparative Map Data
ACSF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381689,093,852 - 89,156,233 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1689,088,375 - 89,164,121 (+)EnsemblGRCh38hg38GRCh38
GRCh371689,160,260 - 89,222,641 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361687,687,825 - 87,749,670 (+)NCBINCBI36Build 36hg18NCBI36
Celera1674,226,564 - 74,287,794 (+)NCBICelera
Cytogenetic Map16q24.3NCBI
HuRef1674,859,689 - 74,921,455 (+)NCBIHuRef
CHM1_11690,571,314 - 90,633,459 (+)NCBICHM1_1
T2T-CHM13v2.01695,173,811 - 95,236,254 (+)NCBIT2T-CHM13v2.0
Acsf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398123,502,209 - 123,544,626 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8123,502,225 - 123,544,619 (+)EnsemblGRCm39 Ensembl
GRCm388122,775,470 - 122,817,887 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8122,775,486 - 122,817,880 (+)EnsemblGRCm38mm10GRCm38
MGSCv378125,299,405 - 125,341,781 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368125,666,626 - 125,703,971 (+)NCBIMGSCv36mm8
Celera8127,007,875 - 127,052,230 (+)NCBICelera
Cytogenetic Map8E1NCBI
cM Map871.97NCBI
Acsf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81967,743,660 - 67,784,109 (+)NCBIGRCr8
mRatBN7.21950,835,116 - 50,875,557 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1950,835,221 - 50,875,553 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01955,594,801 - 55,635,312 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1955,594,831 - 55,635,122 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01966,302,623 - 66,342,436 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41953,066,291 - 53,106,673 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1950,073,106 - 50,113,121 (+)NCBICelera
Cytogenetic Map19q12NCBI
Acsf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,837,448 - 2,876,316 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,837,487 - 2,876,220 (+)NCBIChiLan1.0ChiLan1.0
ACSF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21898,874,350 - 98,940,718 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116104,790,399 - 104,854,970 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01669,842,709 - 69,907,075 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11689,465,691 - 89,524,210 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1689,467,997 - 89,523,825 (+)Ensemblpanpan1.1panPan2
ACSF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1564,288,339 - 64,338,596 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl564,289,295 - 64,414,637 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha564,304,235 - 64,354,696 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0564,519,689 - 64,569,550 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl564,515,871 - 64,569,789 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1564,539,014 - 64,589,483 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0564,377,020 - 64,427,451 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0564,783,458 - 64,833,225 (-)NCBIUU_Cfam_GSD_1.0
Acsf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934924,946,656 - 24,983,470 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936641700,187 - 736,941 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936641700,218 - 736,875 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6663,123 - 709,186 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16663,201 - 708,800 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26826,070 - 843,606 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACSF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1574,464,357 - 74,526,173 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl574,464,651 - 74,525,660 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660471,014,211 - 1,082,877 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acsf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624746628,010 - 655,950 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624746627,089 - 655,922 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACSF3
858 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
ACSF3, LYS462THR AND GLY465_GLY470 DEL deletion Combined malonic and methylmalonic acidemia [RCV000024138] Chr16:16q24.3 pathogenic
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) single nucleotide variant ACSF3-related disorder [RCV003407360]|Combined malonic and methylmalonic acidemia [RCV000024130]|not provided [RCV000185751] Chr16:89154148 [GRCh38]
Chr16:89220556 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001243279.3(ACSF3):c.1567C>T (p.Arg523Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024131] Chr16:89146003 [GRCh38]
Chr16:89212411 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) single nucleotide variant ACSF3-related disorder [RCV003415738]|Combined malonic and methylmalonic acidemia [RCV000024132]|Methylmalonic acidemia [RCV001274019]|not provided [RCV000185748] Chr16:89114436 [GRCh38]
Chr16:89180844 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024133]|Methylmalonic acidemia [RCV001274022]|not provided [RCV001588825] Chr16:89145311 [GRCh38]
Chr16:89211719 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024134]|not provided [RCV001531864]|not specified [RCV003226167] Chr16:89145312 [GRCh38]
Chr16:89211720 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024135]|not specified [RCV004689427] Chr16:89114434 [GRCh38]
Chr16:89180842 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024136]|not specified [RCV003114202] Chr16:89102665 [GRCh38]
Chr16:89169073 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.593T>G (p.Met198Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000024137] Chr16:89101274 [GRCh38]
Chr16:89167682 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1 copy number loss See cases [RCV000050963] Chr16:88818756..89413158 [GRCh38]
Chr16:88885164..89479566 [GRCh37]
Chr16:87412665..88007067 [NCBI36]
Chr16:16q24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1 copy number loss See cases [RCV000053380] Chr16:88640116..89530475 [GRCh38]
Chr16:88706524..89596883 [GRCh37]
Chr16:87234025..88124384 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1 copy number loss See cases [RCV000053381] Chr16:88662702..89454555 [GRCh38]
Chr16:88729110..89520963 [GRCh37]
Chr16:87256611..88048464 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89154317-89195486)x1 copy number loss See cases [RCV000053382] Chr16:89154317..89195486 [GRCh38]
Chr16:89220725..89261894 [GRCh37]
Chr16:87748226..87789395 [NCBI36]
Chr16:16q24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1 copy number loss See cases [RCV000053363] Chr16:88159660..89506042 [GRCh38]
Chr16:88193266..89572450 [GRCh37]
Chr16:86750767..88099951 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1367-13C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001511913]|not provided [RCV004709298]|not specified [RCV000123487] Chr16:89145254 [GRCh38]
Chr16:89211662 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-20-4C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533783]|not provided [RCV004709299] Chr16:89100658 [GRCh38]
Chr16:89167066 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.5T>C (p.Leu2Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523135]|Methylmalonic acidemia [RCV001274008]|not provided [RCV004709300]|not specified [RCV000123489] Chr16:89100686 [GRCh38]
Chr16:89167094 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.49G>C (p.Ala17Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523009]|Methylmalonic acidemia [RCV001274009]|not provided [RCV004709301]|not specified [RCV000123490] Chr16:89100730 [GRCh38]
Chr16:89100730..89100731 [GRCh38]
Chr16:89167138 [GRCh37]
Chr16:89167138..89167139 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.51G>C (p.Ala17=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523136]|Methylmalonic acidemia [RCV001274010]|not provided [RCV004709302]|not specified [RCV000123491] Chr16:89100732 [GRCh38]
Chr16:89167140 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.306C>T (p.Cys102=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523137]|not provided [RCV004709303]|not specified [RCV000123492] Chr16:89100987 [GRCh38]
Chr16:89167395 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.315T>C (p.Asp105=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523138]|Methylmalonic acidemia [RCV001274011]|not provided [RCV004709304]|not specified [RCV000123493] Chr16:89100996 [GRCh38]
Chr16:89167404 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.342G>C (p.Ala114=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523139]|Methylmalonic acidemia [RCV001274012]|not provided [RCV004709305]|not specified [RCV000123494] Chr16:89101023 [GRCh38]
Chr16:89167431 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.354T>C (p.Ser118=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523140]|Methylmalonic acidemia [RCV001274013]|not provided [RCV004709306]|not specified [RCV000123495] Chr16:89101035 [GRCh38]
Chr16:89167443 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.369C>A (p.Val123=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523141]|Methylmalonic acidemia [RCV001274014]|not provided [RCV004709307]|not specified [RCV000123496] Chr16:89101050 [GRCh38]
Chr16:89167458 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.667-12C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001515889]|not provided [RCV004709308]|not specified [RCV000123497] Chr16:89102592 [GRCh38]
Chr16:89169000 [GRCh37]
Chr16:16q24.3		 benign
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3 copy number gain See cases [RCV000139882] Chr16:89079074..89287677 [GRCh38]
Chr16:89145482..89354085 [GRCh37]
Chr16:87672983..87881586 [NCBI36]
Chr16:16q24.3		 uncertain significance
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
NM_001243279.3(ACSF3):c.-14_-13insCCAGGAGGCTCCCGGGAGC insertion not specified [RCV000185745] Chr16:89100667..89100668 [GRCh38]
Chr16:89167075..89167076 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002519572]|Methylmalonic acidemia [RCV001278420] Chr16:89100710 [GRCh38]
Chr16:89167118 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.584A>G (p.Lys195Arg) single nucleotide variant not specified [RCV000185747] Chr16:89101265 [GRCh38]
Chr16:89167673 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) single nucleotide variant ACSF3-related disorder [RCV003977489]|Combined malonic and methylmalonic acidemia [RCV000660548]|Inborn genetic diseases [RCV004020249]|not provided [RCV000658756]|not specified [RCV000185749] Chr16:89145306 [GRCh38]
Chr16:89211714 [GRCh37]
Chr16:16q24.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1556T>G (p.Val519Gly) single nucleotide variant not provided [RCV000185750] Chr16:89145992 [GRCh38]
Chr16:89212400 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002516959]|not provided [RCV000224144]|not specified [RCV003235109] Chr16:89100709 [GRCh38]
Chr16:89167117 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001833107]|not provided [RCV000185757] Chr16:89102610 [GRCh38]
Chr16:89169018 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002516961]|Methylmalonic acidemia [RCV001278424] Chr16:89100800 [GRCh38]
Chr16:89167208 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) single nucleotide variant ACSF3-related disorder [RCV003416112]|Combined malonic and methylmalonic acidemia [RCV002282016]|not provided [RCV000185752] Chr16:89100682 [GRCh38]
Chr16:89167090 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001380117] Chr16:89101029 [GRCh38]
Chr16:89167437 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.589G>A (p.Ala197Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002516960]|not provided [RCV000185756] Chr16:89101270 [GRCh38]
Chr16:89167678 [GRCh37]
Chr16:16q24.3		 pathogenic|uncertain significance
NM_001243279.3(ACSF3):c.706G>A (p.Asp236Asn) single nucleotide variant not provided [RCV000185758] Chr16:89102643 [GRCh38]
Chr16:89169051 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1718del (p.Phe573fs) deletion Combined malonic and methylmalonic acidemia [RCV001827991]|not provided [RCV000185759] Chr16:89154193 [GRCh38]
Chr16:89220601 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258457] Chr16:88630607..89607742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258474] Chr16:89161684..89505106 [GRCh37]
Chr16:16q24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258180] Chr16:88230961..89363602 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258201] Chr16:88666177..89472627 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258283] Chr16:88643461..89611494 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258300] Chr16:88755312..89584412 [GRCh37]
Chr16:16q24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258311] Chr16:88230760..89363742 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258442] Chr16:88556191..89557911 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001243279.3(ACSF3):c.666+199T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001549046]|not provided [RCV001619974] Chr16:89101546 [GRCh38]
Chr16:89167954 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 copy number gain See cases [RCV000240352] Chr16:88601532..89713753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1239+2T>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003315470] Chr16:89120915 [GRCh38]
Chr16:89187323 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.628A>C (p.Lys210Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002503207]|not provided [RCV001760578] Chr16:89101309 [GRCh38]
Chr16:89167717 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.557C>T (p.Pro186Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002542920]|Methylmalonic acidemia [RCV001279216] Chr16:89101238 [GRCh38]
Chr16:89167646 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1043G>A (p.Gly348Asp) single nucleotide variant Methylmalonic acidemia [RCV001279228] Chr16:89114404 [GRCh38]
Chr16:89180812 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001335556]|Inborn genetic diseases [RCV002541704]|Methylmalonic acidemia [RCV001279230] Chr16:89114457 [GRCh38]
Chr16:89180865 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1378dup (p.Val460fs) duplication Combined malonic and methylmalonic acidemia [RCV001835826]|not provided [RCV000489924] Chr16:89145276..89145277 [GRCh38]
Chr16:89211684..89211685 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.-10T>G single nucleotide variant Methylmalonic acidemia [RCV001278417] Chr16:89100672 [GRCh38]
Chr16:89167080 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.18G>A (p.Val6=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001880259]|Methylmalonic acidemia [RCV001278419] Chr16:89100699 [GRCh38]
Chr16:89167107 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.283G>C (p.Glu95Gln) single nucleotide variant Inborn genetic diseases [RCV004035472]|Methylmalonic acidemia [RCV001278435] Chr16:89100964 [GRCh38]
Chr16:89167372 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1095C>T (p.Ser365=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001443990]|not specified [RCV000602704] Chr16:89114456 [GRCh38]
Chr16:89180864 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.179T>G (p.Val60Gly) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002542896]|Methylmalonic acidemia [RCV001278430]|not provided [RCV003320819] Chr16:89100860 [GRCh38]
Chr16:89167268 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.280C>T (p.Arg94Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001880261]|Methylmalonic acidemia [RCV001278434] Chr16:89100961 [GRCh38]
Chr16:89167369 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002503208]|not provided [RCV001760633] Chr16:89114445 [GRCh38]
Chr16:89180853 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_174917.4(ACSF3):c.1377dupG (p.Val460Glyfs) duplication not provided [RCV000415951] Chr16:89145277 [GRCh38]
Chr16:89211685 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1502-2A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001048461]|not provided [RCV000735190] Chr16:89145936 [GRCh38]
Chr16:89212344 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.80G>A (p.Arg27Lys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002535394]|Inborn genetic diseases [RCV003279039]|not provided [RCV000734766] Chr16:89100761 [GRCh38]
Chr16:89167169 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89134317-89368034)x3 copy number gain See cases [RCV000449454] Chr16:89134317..89368034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.31C>T (p.Arg11Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001526740]|Global developmental delay [RCV000449552] Chr16:89100712 [GRCh38]
Chr16:89167120 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001243279.3(ACSF3):c.978-6G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000649673]|not specified [RCV000417470] Chr16:89114333 [GRCh38]
Chr16:89180741 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.756C>T (p.Asn252=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000895214]|not provided [RCV003418128]|not specified [RCV000420768] Chr16:89102693 [GRCh38]
Chr16:89169101 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-15C>G single nucleotide variant not specified [RCV000423811] Chr16:89100667 [GRCh38]
Chr16:89167075 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-29G>C single nucleotide variant not specified [RCV000441415] Chr16:89098755 [GRCh38]
Chr16:89165163 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1292C>A (p.Ser431Tyr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001828398]|not provided [RCV000443555] Chr16:89133188 [GRCh38]
Chr16:89199596 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.411C>T (p.Val137=) single nucleotide variant ACSF3-related disorder [RCV003902556]|Combined malonic and methylmalonic acidemia [RCV000887895]|not specified [RCV000431204] Chr16:89101092 [GRCh38]
Chr16:89167500 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.1501+11G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642888]|not specified [RCV000441621] Chr16:89145412 [GRCh38]
Chr16:89211820 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.852G>A (p.Thr284=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000966249]|not specified [RCV000417986] Chr16:89112121 [GRCh38]
Chr16:89178529 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001000007]|not provided [RCV001528491]|not specified [RCV000427844] Chr16:89112123 [GRCh38]
Chr16:89178531 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.1614-10G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000880843]|not specified [RCV000431797] Chr16:89154080 [GRCh38]
Chr16:89220488 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239G>A (p.Lys413=) single nucleotide variant not provided [RCV000434895] Chr16:89120913 [GRCh38]
Chr16:89187321 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.996A>T (p.Ser332=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001511912]|Methylmalonic acidemia [RCV001274018]|not provided [RCV004711038]|not specified [RCV000431871] Chr16:89114357 [GRCh38]
Chr16:89180765 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.666+20G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002522495]|not specified [RCV000435623] Chr16:89101367 [GRCh38]
Chr16:89167775 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.-193-5G>C single nucleotide variant not provided [RCV001720037] Chr16:89098586 [GRCh38]
Chr16:89164994 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-187C>T single nucleotide variant not provided [RCV001703764] Chr16:89098597 [GRCh38]
Chr16:89165005 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-22G>C single nucleotide variant not specified [RCV000443272] Chr16:89098762 [GRCh38]
Chr16:89165170 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001062791]|not provided [RCV000426583] Chr16:89146044 [GRCh38]
Chr16:89212452 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1131C>T (p.Ser377=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000957492]|not provided [RCV004705563]|not specified [RCV000429378] Chr16:89120805 [GRCh38]
Chr16:89187213 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.-194+20C>G single nucleotide variant not provided [RCV001703576] Chr16:89094016 [GRCh38]
Chr16:89160424 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1467G>C (p.Val489=) single nucleotide variant ACSF3-related disorder [RCV004751516]|Combined malonic and methylmalonic acidemia [RCV000889113]|not provided [RCV001703761] Chr16:89145367 [GRCh38]
Chr16:89211775 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.297C>T (p.Ser99=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523082]|not provided [RCV004710013]|not specified [RCV000422540] Chr16:89100978 [GRCh38]
Chr16:89167386 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1629G>A (p.Pro543=) single nucleotide variant ACSF3-related disorder [RCV003922755]|Combined malonic and methylmalonic acidemia [RCV000887816]|not specified [RCV000436572] Chr16:89154105 [GRCh38]
Chr16:89220513 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-6C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000908272]|not specified [RCV000433306] Chr16:89154084 [GRCh38]
Chr16:89220492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-7C>T single nucleotide variant ACSF3-related disorder [RCV003942427]|Combined malonic and methylmalonic acidemia [RCV000953568]|not provided [RCV004567922]|not specified [RCV000440521] Chr16:89114332 [GRCh38]
Chr16:89180740 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-193-14A>G single nucleotide variant not specified [RCV000444107] Chr16:89098577 [GRCh38]
Chr16:89164985 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1126+4C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000970570]|not specified [RCV000423083] Chr16:89114491 [GRCh38]
Chr16:89180899 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1101C>T (p.Pro367=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002521742]|not specified [RCV000437012] Chr16:89114462 [GRCh38]
Chr16:89180870 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-20-6C>G single nucleotide variant not provided [RCV001721318] Chr16:89100656 [GRCh38]
Chr16:89167064 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-18C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001412234]|not specified [RCV000430571] Chr16:89145920 [GRCh38]
Chr16:89212328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-6C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000970572]|not provided [RCV004710016]|not specified [RCV000433873] Chr16:89145261 [GRCh38]
Chr16:89211669 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001245382]|not provided [RCV000444454]|not specified [RCV002282137] Chr16:89145370 [GRCh38]
Chr16:89211778 [GRCh37]
Chr16:16q24.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.-23T>C single nucleotide variant not provided [RCV000420499] Chr16:89098761 [GRCh38]
Chr16:89165169 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916)x3 copy number gain See cases [RCV000447971] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) single nucleotide variant ACSF3-related disorder [RCV003401529]|Combined malonic and methylmalonic acidemia [RCV001274046]|Inborn genetic diseases [RCV004023130]|not provided [RCV000486667] Chr16:89133197 [GRCh38]
Chr16:89199605 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.796A>G (p.Met266Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002525945]|Inborn genetic diseases [RCV004023200]|Methylmalonic acidemia [RCV001274017]|not provided [RCV000482760] Chr16:89102733 [GRCh38]
Chr16:89169141 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_174917.4(ACSF3):c.-15_-14insCCCAGGAGGCTCCCGGGAG insertion not specified [RCV000482996] Chr16:89100667..89100668 [GRCh38]
Chr16:89167075..89167076 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer) deletion Combined malonic and methylmalonic acidemia [RCV001383441]|Methylmalonic acidemia [RCV001274023]|not provided [RCV000480293] Chr16:89145345..89145346 [GRCh38]
Chr16:89211753..89211754 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3		 not provided
NM_001243279.3(ACSF3):c.823-6T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000508337] Chr16:89112086 [GRCh38]
Chr16:89178494 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1369G>A (p.Asp457Asn) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003992302]|Inborn genetic diseases [RCV003362802]|Methylmalonic acidemia [RCV001274021]|not provided [RCV000494337] Chr16:89145269 [GRCh38]
Chr16:89211677 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1 copy number loss See cases [RCV000511455] Chr16:88116155..89524926 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003476188]|not provided [RCV000494593] Chr16:89114389 [GRCh38]
Chr16:89180797 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3 copy number gain See cases [RCV000511531] Chr16:88445490..89319419 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89134317-89371103)x3 copy number gain See cases [RCV000511937] Chr16:89134317..89371103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.823-26T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000507574]|not provided [RCV004710079] Chr16:89112066 [GRCh38]
Chr16:89178474 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1292C>T (p.Ser431Phe) single nucleotide variant Inborn genetic diseases [RCV003256179] Chr16:89133188 [GRCh38]
Chr16:89199596 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001243279.3(ACSF3):c.545C>T (p.Pro182Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002524998]|Methylmalonic acidemia [RCV001274016]|not provided [RCV000514315] Chr16:89101226 [GRCh38]
Chr16:89167634 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.336G>T (p.Gln112His) single nucleotide variant not provided [RCV000519259] Chr16:89101017 [GRCh38]
Chr16:89167425 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.822+18C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002063052]|not provided [RCV001722635] Chr16:89102777 [GRCh38]
Chr16:89169185 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.-194+14G>C single nucleotide variant not specified [RCV000601991] Chr16:89094010 [GRCh38]
Chr16:89160418 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-30C>A single nucleotide variant not specified [RCV000602479] Chr16:89098754 [GRCh38]
Chr16:89165162 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.724C>T (p.Leu242Phe) single nucleotide variant Inborn genetic diseases [RCV003262265] Chr16:89102661 [GRCh38]
Chr16:89169069 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1134G>A (p.Val378=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000957493]|Methylmalonic acidemia [RCV001274020]|not provided [RCV004710142]|not specified [RCV000614995] Chr16:89120808 [GRCh38]
Chr16:89187216 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1266G>A (p.Glu422=) single nucleotide variant ACSF3-related disorder [RCV003953018]|Combined malonic and methylmalonic acidemia [RCV000937551]|not specified [RCV000615852] Chr16:89133162 [GRCh38]
Chr16:89199570 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+9C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000892883]|not specified [RCV000609990] Chr16:89120922 [GRCh38]
Chr16:89187330 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-20-11C>A single nucleotide variant not specified [RCV000616195] Chr16:89100651 [GRCh38]
Chr16:89167059 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000649671]|not provided [RCV001093042]|not specified [RCV002307575] Chr16:89114442 [GRCh38]
Chr16:89180850 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1113C>T (p.Ala371=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000931679]|not provided [RCV004704122]|not specified [RCV000610360] Chr16:89114474 [GRCh38]
Chr16:89180882 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001243279.3(ACSF3):c.327C>T (p.Val109=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000917775]|not specified [RCV000613521] Chr16:89101008 [GRCh38]
Chr16:89167416 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-13T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001518210]|not provided [RCV001718997] Chr16:89102591 [GRCh38]
Chr16:89168999 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.1502-5C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000975607]|not specified [RCV000609192] Chr16:89145933 [GRCh38]
Chr16:89212341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.60G>T (p.Arg20=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002066570]|not specified [RCV000614714] Chr16:89100741 [GRCh38]
Chr16:89167149 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1067G>T (p.Gly356Val) single nucleotide variant Inborn genetic diseases [RCV003266502] Chr16:89114428 [GRCh38]
Chr16:89180836 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_001243279.3(ACSF3):c.258C>T (p.Cys86=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001463068]|not specified [RCV000603684] Chr16:89100939 [GRCh38]
Chr16:89167347 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:88983242-89648778)x3 copy number gain not provided [RCV000683858] Chr16:88983242..89648778 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.122A>T (p.Asp41Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000685625] Chr16:89100803 [GRCh38]
Chr16:89167211 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000690332] Chr16:89145305 [GRCh38]
Chr16:89211713 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.541G>A (p.Glu181Lys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000694756] Chr16:89101222 [GRCh38]
Chr16:89167630 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3 copy number gain not provided [RCV000709990] Chr16:88317240..89079407 [GRCh37]
Chr16:16q24.2-24.3		 not provided
NM_001243279.3(ACSF3):c.358G>A (p.Gly120Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000696936]|not provided [RCV004692145] Chr16:89101039 [GRCh38]
Chr16:89167447 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001826392]|not provided [RCV001547341] Chr16:89146016 [GRCh38]
Chr16:89212424 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.313G>A (p.Asp105Asn) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000815680]|Inborn genetic diseases [RCV003243328]|Methylmalonic acidemia [RCV001278437] Chr16:89100994 [GRCh38]
Chr16:89167402 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.391G>A (p.Ala131Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001559236]|Inborn genetic diseases [RCV002568387] Chr16:89101072 [GRCh38]
Chr16:89167480 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001243279.3(ACSF3):c.978-83C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001549048]|not provided [RCV001673187] Chr16:89114256 [GRCh38]
Chr16:89180664 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1502-146A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001549049]|not provided [RCV001713126] Chr16:89145792 [GRCh38]
Chr16:89212200 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:88891995-89422823)x3 copy number gain not provided [RCV000739301] Chr16:88891995..89422823 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.667-287A>G single nucleotide variant not provided [RCV001649060] Chr16:89102317 [GRCh38]
Chr16:89168725 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.*231G>A single nucleotide variant not provided [RCV001611348] Chr16:89154438 [GRCh38]
Chr16:89220846 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1240-199G>A single nucleotide variant not provided [RCV001571151] Chr16:89132937 [GRCh38]
Chr16:89199345 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+195G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001549045]|not provided [RCV001725227] Chr16:89101542 [GRCh38]
Chr16:89167950 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1126+244T>G single nucleotide variant not provided [RCV001692695] Chr16:89114731 [GRCh38]
Chr16:89181139 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1240-22C>T single nucleotide variant not provided [RCV001571460] Chr16:89133114 [GRCh38]
Chr16:89199522 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-77G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533601]|not provided [RCV001595095] Chr16:89102527 [GRCh38]
Chr16:89168935 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1126+40G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533660]|not provided [RCV001673143] Chr16:89114527 [GRCh38]
Chr16:89180935 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1367-195C>T single nucleotide variant not provided [RCV001690473] Chr16:89145072 [GRCh38]
Chr16:89211480 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.*73C>T single nucleotide variant not provided [RCV001611910] Chr16:89154280 [GRCh38]
Chr16:89220688 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-20-129C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001549044]|not provided [RCV001713027] Chr16:89100533 [GRCh38]
Chr16:89166941 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1367-222G>A single nucleotide variant not provided [RCV001610945] Chr16:89145045 [GRCh38]
Chr16:89211453 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1145T>C (p.Leu382Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001559234] Chr16:89120819 [GRCh38]
Chr16:89187227 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1240-130C>T single nucleotide variant not provided [RCV001567013] Chr16:89133006 [GRCh38]
Chr16:89199414 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-52C>T single nucleotide variant not provided [RCV001612281] Chr16:89114287 [GRCh38]
Chr16:89180695 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.977+119A>G single nucleotide variant not provided [RCV001669107] Chr16:89112365 [GRCh38]
Chr16:89178773 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.312C>T (p.Asn104=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942881]|Methylmalonic acidemia [RCV001278436]|not provided [RCV003411901] Chr16:89100993 [GRCh38]
Chr16:89167401 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-4G>A single nucleotide variant ACSF3-related disorder [RCV003908379]|Combined malonic and methylmalonic acidemia [RCV000879031]|Inborn genetic diseases [RCV002539276] Chr16:89145934 [GRCh38]
Chr16:89212342 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.933G>A (p.Pro311=) single nucleotide variant ACSF3-related disorder [RCV003955815]|Combined malonic and methylmalonic acidemia [RCV000880815] Chr16:89112202 [GRCh38]
Chr16:89178610 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.705C>T (p.Asp235=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000921151] Chr16:89102642 [GRCh38]
Chr16:89169050 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) single nucleotide variant ACSF3-related disorder [RCV003975502]|Combined malonic and methylmalonic acidemia [RCV000879099] Chr16:89145960 [GRCh38]
Chr16:89212368 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-9C>T single nucleotide variant ACSF3-related disorder [RCV003922963]|Combined malonic and methylmalonic acidemia [RCV000901043] Chr16:89102595 [GRCh38]
Chr16:89169003 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.823-5C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942778] Chr16:89112087 [GRCh38]
Chr16:89178495 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000937740] Chr16:89100810 [GRCh38]
Chr16:89167218 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-5T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000901289] Chr16:89120796 [GRCh38]
Chr16:89187204 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942101] Chr16:89101260 [GRCh38]
Chr16:89167668 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.823-4G>C single nucleotide variant ACSF3-related disorder [RCV003950635]|Combined malonic and methylmalonic acidemia [RCV000904710] Chr16:89112088 [GRCh38]
Chr16:89178496 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.390C>T (p.Pro130=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000969253]|Methylmalonic acidemia [RCV001279210] Chr16:89101071 [GRCh38]
Chr16:89167479 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.246del (p.Cys83fs) deletion Combined malonic and methylmalonic acidemia [RCV001061070] Chr16:89100927 [GRCh38]
Chr16:89167335 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.10:g.(?_89100662)_(89154227_?)dup duplication Combined malonic and methylmalonic acidemia [RCV001033159] Chr16:89167070..89220635 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.803del (p.Pro268fs) deletion Combined malonic and methylmalonic acidemia [RCV001055927]|Inborn genetic diseases [RCV002553359] Chr16:89102739 [GRCh38]
Chr16:89169147 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001047795] Chr16:89133206 [GRCh38]
Chr16:89199614 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_001243279.3(ACSF3):c.305del (p.Cys102fs) deletion Combined malonic and methylmalonic acidemia [RCV000814483] Chr16:89100986 [GRCh38]
Chr16:89167394 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.723G>A (p.Val241=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000978025] Chr16:89102660 [GRCh38]
Chr16:89169068 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.720C>T (p.His240=) single nucleotide variant ACSF3-related disorder [RCV003967963]|Combined malonic and methylmalonic acidemia [RCV000879675] Chr16:89102657 [GRCh38]
Chr16:89169065 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1131C>A (p.Ser377=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001455202] Chr16:89120805 [GRCh38]
Chr16:89187213 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1074C>G (p.Thr358=) single nucleotide variant ACSF3-related disorder [RCV004751829]|Combined malonic and methylmalonic acidemia [RCV000937916]|not provided [RCV004704348] Chr16:89114435 [GRCh38]
Chr16:89180843 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.267C>T (p.Val89=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000893480] Chr16:89100948 [GRCh38]
Chr16:89167356 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) single nucleotide variant ACSF3-related disorder [RCV003960786]|Combined malonic and methylmalonic acidemia [RCV000967389] Chr16:89145998 [GRCh38]
Chr16:89212406 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.588C>T (p.Gly196=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000940722] Chr16:89101269 [GRCh38]
Chr16:89167677 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1213G>A (p.Ala405Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000924318] Chr16:89120887 [GRCh38]
Chr16:89187295 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.753C>G (p.Val251=) single nucleotide variant not provided [RCV000915041] Chr16:89102690 [GRCh38]
Chr16:89169098 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.708C>T (p.Asp236=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000931806] Chr16:89102645 [GRCh38]
Chr16:89169053 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001274044] Chr16:89102663 [GRCh38]
Chr16:89169071 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.738C>T (p.His246=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942113] Chr16:89102675 [GRCh38]
Chr16:89169083 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) single nucleotide variant ACSF3-related disorder [RCV003913072]|Combined malonic and methylmalonic acidemia [RCV001271492] Chr16:89101161 [GRCh38]
Chr16:89167569 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1613+8T>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001274047] Chr16:89146057 [GRCh38]
Chr16:89212465 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NC_000016.10:g.89093730G>A single nucleotide variant not provided [RCV002280432] Chr16:89093730 [GRCh38]
Chr16:89160138 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.342G>A (p.Ala114=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001497630] Chr16:89101023 [GRCh38]
Chr16:89167431 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.357C>T (p.Gly119=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001473315]|Methylmalonic acidemia [RCV001278439]|not provided [RCV000842120] Chr16:89101038 [GRCh38]
Chr16:89167446 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.-30C>G single nucleotide variant not provided [RCV000842246] Chr16:89098754 [GRCh38]
Chr16:89165162 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-36C>T single nucleotide variant not provided [RCV000842661] Chr16:89098748 [GRCh38]
Chr16:89165156 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89221688-89413657)x3 copy number gain not provided [RCV000849510] Chr16:89221688..89413657 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89151359-89217257)x1 copy number loss not provided [RCV000850034] Chr16:89151359..89217257 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.600C>G (p.Ile200Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001086430]|not provided [RCV000836203] Chr16:89101281 [GRCh38]
Chr16:89167689 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000796173] Chr16:89101132 [GRCh38]
Chr16:89167540 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.828G>A (p.Trp276Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000801009] Chr16:89112097 [GRCh38]
Chr16:89178505 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000792573] Chr16:89133196 [GRCh38]
Chr16:89199604 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.682C>G (p.His228Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000793580] Chr16:89102619 [GRCh38]
Chr16:89169027 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000795961] Chr16:89102626 [GRCh38]
Chr16:89169034 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1127-7C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000982100] Chr16:89120794 [GRCh38]
Chr16:89187202 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1092G>C (p.Leu364=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000978531] Chr16:89114453 [GRCh38]
Chr16:89180861 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-8C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000981132] Chr16:89133128 [GRCh38]
Chr16:89199536 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001085028]|not provided [RCV000841366] Chr16:89100966 [GRCh38]
Chr16:89167374 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.506C>T (p.Pro169Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000800704]|Inborn genetic diseases [RCV004028035] Chr16:89101187 [GRCh38]
Chr16:89167595 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.138G>A (p.Val46=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001429698] Chr16:89100819 [GRCh38]
Chr16:89167227 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.431C>T (p.Ser144Phe) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000807181] Chr16:89101112 [GRCh38]
Chr16:89167520 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.675del (p.Leu226fs) deletion Combined malonic and methylmalonic acidemia [RCV000809509] Chr16:89102610 [GRCh38]
Chr16:89169018 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.387T>C (p.His129=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002065600] Chr16:89101068 [GRCh38]
Chr16:89167476 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001046509] Chr16:89145971 [GRCh38]
Chr16:89212379 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.3(chr16:89151360-89217258)x1 copy number loss not provided [RCV001006840] Chr16:89151360..89217258 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89127307-89370888)x3 copy number gain not provided [RCV000847971] Chr16:89127307..89370888 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89066987-89174140)x1 copy number loss not provided [RCV000849387] Chr16:89066987..89174140 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.822+53_822+54del deletion Combined malonic and methylmalonic acidemia [RCV001549047]|not provided [RCV001658280] Chr16:89102812..89102813 [GRCh38]
Chr16:89169220..89169221 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.491G>A (p.Gly164Glu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001195941] Chr16:89101172 [GRCh38]
Chr16:89167580 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.286G>T (p.Glu96Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001044905] Chr16:89100967 [GRCh38]
Chr16:89167375 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001241937]|Inborn genetic diseases [RCV002568546]|not provided [RCV002564012]|not specified [RCV003331087] Chr16:89145979 [GRCh38]
Chr16:89212387 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.291G>C (p.Arg97Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001222795] Chr16:89100972 [GRCh38]
Chr16:89167380 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001221292] Chr16:89114482 [GRCh38]
Chr16:89180890 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_001243279.3(ACSF3):c.1465G>T (p.Val489Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001228285] Chr16:89145365 [GRCh38]
Chr16:89211773 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1629delinsAC (p.Tyr544fs) indel Combined malonic and methylmalonic acidemia [RCV001246335] Chr16:89154105 [GRCh38]
Chr16:89220513 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1 copy number loss not provided [RCV000847422] Chr16:88453448..89569215 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1625C>T (p.Ala542Val) single nucleotide variant Inborn genetic diseases [RCV003271164] Chr16:89154101 [GRCh38]
Chr16:89220509 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1064A>G (p.Tyr355Cys) single nucleotide variant Inborn genetic diseases [RCV003249014] Chr16:89114425 [GRCh38]
Chr16:89180833 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1419A>G (p.Ser473=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003104834] Chr16:89145319 [GRCh38]
Chr16:89211727 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1512G>A (p.Val504=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003104277] Chr16:89145948 [GRCh38]
Chr16:89212356 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.625C>G (p.Pro209Ala) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001803356]|not provided [RCV001548149] Chr16:89101306 [GRCh38]
Chr16:89167714 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1366+220C>G single nucleotide variant not provided [RCV001638625] Chr16:89133482 [GRCh38]
Chr16:89199890 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.666+37C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533599]|not provided [RCV001673140] Chr16:89101384 [GRCh38]
Chr16:89167792 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.822+38C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533603]|not provided [RCV001685446] Chr16:89102797 [GRCh38]
Chr16:89169205 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1614-220T>C single nucleotide variant not provided [RCV001655373] Chr16:89153870 [GRCh38]
Chr16:89220278 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.*265C>A single nucleotide variant not provided [RCV001534385] Chr16:89154472 [GRCh38]
Chr16:89220880 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1501+41G>A single nucleotide variant not provided [RCV001572091] Chr16:89145442 [GRCh38]
Chr16:89211850 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.89093807C>A single nucleotide variant not provided [RCV001716162] Chr16:89093807 [GRCh38]
Chr16:89160215 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.666+52G>A single nucleotide variant not provided [RCV001581454] Chr16:89101399 [GRCh38]
Chr16:89167807 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-338C>G single nucleotide variant not provided [RCV001656383] Chr16:89153752 [GRCh38]
Chr16:89220160 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1240-339G>A single nucleotide variant not provided [RCV001696562] Chr16:89132797 [GRCh38]
Chr16:89199205 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-315C>G single nucleotide variant not provided [RCV001719656] Chr16:89093875 [GRCh38]
Chr16:89160283 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.822+106T>C single nucleotide variant not provided [RCV001540508] Chr16:89102865 [GRCh38]
Chr16:89169273 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1197C>T (p.Cys399=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000973986] Chr16:89120871 [GRCh38]
Chr16:89187279 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.760C>T (p.Leu254=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456415] Chr16:89102697 [GRCh38]
Chr16:89169105 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1074C>T (p.Thr358=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001274045] Chr16:89114435 [GRCh38]
Chr16:89180843 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1394A>G (p.Gln465Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000930999] Chr16:89145294 [GRCh38]
Chr16:89211702 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) single nucleotide variant ACSF3-related disorder [RCV003936178]|Combined malonic and methylmalonic acidemia [RCV000973912] Chr16:89101314 [GRCh38]
Chr16:89167722 [GRCh37]
Chr16:16q24.3		 benign|likely benign
NM_001243279.3(ACSF3):c.759G>A (p.Ala253=) single nucleotide variant ACSF3-related disorder [RCV003925821]|Combined malonic and methylmalonic acidemia [RCV000936624] Chr16:89102696 [GRCh38]
Chr16:89169104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.417C>T (p.Cys139=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000892136] Chr16:89101098 [GRCh38]
Chr16:89167506 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000908541] Chr16:89133138 [GRCh38]
Chr16:89199546 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) single nucleotide variant ACSF3-related disorder [RCV003948384]|Combined malonic and methylmalonic acidemia [RCV000887359] Chr16:89102609 [GRCh38]
Chr16:89169017 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.45C>G (p.Ala15=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000886194] Chr16:89100726 [GRCh38]
Chr16:89167134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1650G>A (p.Leu550=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001409162] Chr16:89154126 [GRCh38]
Chr16:89220534 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000941468] Chr16:89145298 [GRCh38]
Chr16:89211706 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.156C>T (p.Ala52=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942081]|not provided [RCV004704352] Chr16:89100837 [GRCh38]
Chr16:89167245 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+9C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000942471] Chr16:89101356 [GRCh38]
Chr16:89167764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1476C>T (p.His492=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001438675] Chr16:89145376 [GRCh38]
Chr16:89211784 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.120G>A (p.Ser40=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000930756] Chr16:89100801 [GRCh38]
Chr16:89167209 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.438C>T (p.Val146=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000981610] Chr16:89101119 [GRCh38]
Chr16:89167527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) single nucleotide variant ACSF3-related disorder [RCV003942917]|Combined malonic and methylmalonic acidemia [RCV000933425] Chr16:89154180 [GRCh38]
Chr16:89220588 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.618G>T (p.Thr206=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001411760] Chr16:89101299 [GRCh38]
Chr16:89167707 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.645G>A (p.Thr215=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000886423] Chr16:89101326 [GRCh38]
Chr16:89167734 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-5C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001442639] Chr16:89114334 [GRCh38]
Chr16:89180742 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.691G>A (p.Ala231Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001244315] Chr16:89102628 [GRCh38]
Chr16:89169036 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.10:g.89100703_89111915del deletion Combined malonic and methylmalonic acidemia [RCV001037481]   likely pathogenic
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001241328]|not specified [RCV002222684] Chr16:89112097 [GRCh38]
Chr16:89178505 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001229626] Chr16:89101089 [GRCh38]
Chr16:89167497 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) single nucleotide variant ACSF3-related disorder [RCV003930771]|Combined malonic and methylmalonic acidemia [RCV000890161] Chr16:89145356 [GRCh38]
Chr16:89211764 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.42C>T (p.Cys14=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001455120]|Methylmalonic acidemia [RCV001278421] Chr16:89100723 [GRCh38]
Chr16:89167131 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.936C>T (p.His312=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000912739] Chr16:89112205 [GRCh38]
Chr16:89178613 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1374C>T (p.Thr458=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000935302] Chr16:89145274 [GRCh38]
Chr16:89211682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.855G>A (p.Pro285=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000935748]|Methylmalonic acidemia [RCV001279222] Chr16:89112124 [GRCh38]
Chr16:89178532 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-67C>T single nucleotide variant not provided [RCV001557848] Chr16:89145200 [GRCh38]
Chr16:89211608 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.89093750G>C single nucleotide variant not provided [RCV001676434] Chr16:89093750 [GRCh38]
Chr16:89160158 [GRCh37]
Chr16:16q24.3		 benign
GRCh37/hg19 16q24.3(chr16:89134318-89434509)x1 copy number loss not provided [RCV002472647] Chr16:89134318..89434509 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1127-341C>T single nucleotide variant not provided [RCV001656252] Chr16:89120460 [GRCh38]
Chr16:89186868 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.10:g.89093755G>A single nucleotide variant not provided [RCV001620395] Chr16:89093755 [GRCh38]
Chr16:89160163 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1502-64A>T single nucleotide variant not provided [RCV001598824] Chr16:89145874 [GRCh38]
Chr16:89212282 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.251G>A (p.Arg84Lys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001245922]|Inborn genetic diseases [RCV002564098] Chr16:89100932 [GRCh38]
Chr16:89167340 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.-269C>G single nucleotide variant not provided [RCV001644467] Chr16:89093921 [GRCh38]
Chr16:89160329 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1367-183G>A single nucleotide variant not provided [RCV001612130] Chr16:89145084 [GRCh38]
Chr16:89211492 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1126+117G>A single nucleotide variant not provided [RCV001616801] Chr16:89114604 [GRCh38]
Chr16:89181012 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.667-101T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533600]|not provided [RCV001707893] Chr16:89102503 [GRCh38]
Chr16:89168911 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.667-31T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533602]|not provided [RCV001655822] Chr16:89102573 [GRCh38]
Chr16:89168981 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.822+145T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533604]|not provided [RCV001713110] Chr16:89102904 [GRCh38]
Chr16:89169312 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1239+57G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001533661]|not provided [RCV001685448] Chr16:89120970 [GRCh38]
Chr16:89187378 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-194+48A>G single nucleotide variant not provided [RCV001533911] Chr16:89094044 [GRCh38]
Chr16:89160452 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-20-238G>A single nucleotide variant not provided [RCV001681160] Chr16:89100424 [GRCh38]
Chr16:89166832 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1614-25C>T single nucleotide variant not provided [RCV001680018] Chr16:89154065 [GRCh38]
Chr16:89220473 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-20-263A>G single nucleotide variant not provided [RCV001681326] Chr16:89100399 [GRCh38]
Chr16:89166807 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.822+117G>A single nucleotide variant not provided [RCV001647664] Chr16:89102876 [GRCh38]
Chr16:89102876..89102877 [GRCh38]
Chr16:89169284 [GRCh37]
Chr16:89169284..89169285 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.666+73C>T single nucleotide variant not provided [RCV001613697] Chr16:89101420 [GRCh38]
Chr16:89167828 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001213816] Chr16:89102718 [GRCh38]
Chr16:89169126 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001041671]|Methylmalonic acidemia [RCV001274015] Chr16:89101105 [GRCh38]
Chr16:89167513 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.86G>C (p.Ser29Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001247454]|Inborn genetic diseases [RCV003263902] Chr16:89100767 [GRCh38]
Chr16:89167175 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89202153-89421807)x3 copy number gain not provided [RCV001006841] Chr16:89202153..89421807 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1553C>A (p.Ala518Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001248069] Chr16:89145989 [GRCh38]
Chr16:89212397 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001232362] Chr16:89112096 [GRCh38]
Chr16:89178504 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1407_1408del (p.Gly470fs) deletion Combined malonic and methylmalonic acidemia [RCV001230340] Chr16:89145306..89145307 [GRCh38]
Chr16:89211714..89211715 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1602dup (p.Glu535fs) duplication Combined malonic and methylmalonic acidemia [RCV001042177] Chr16:89146035..89146036 [GRCh38]
Chr16:89212443..89212444 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.261del (p.Cys88fs) deletion Combined malonic and methylmalonic acidemia [RCV001211942] Chr16:89100940 [GRCh38]
Chr16:89167348 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001246878] Chr16:89114421 [GRCh38]
Chr16:89180829 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1573G>T (p.Gly525Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001057166] Chr16:89146009 [GRCh38]
Chr16:89212417 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001204919] Chr16:89102627 [GRCh38]
Chr16:89169035 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1607G>A (p.Trp536Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001039227] Chr16:89146043 [GRCh38]
Chr16:89212451 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) duplication Combined malonic and methylmalonic acidemia [RCV001254594]|not provided [RCV001559843]|not specified [RCV002307714] Chr16:89154196..89154197 [GRCh38]
Chr16:89220604..89220605 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:89089171-89255035)x3 copy number gain not provided [RCV001258666] Chr16:89089171..89255035 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.130G>A (p.Ala44Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001559237]|Methylmalonic acidemia [RCV001278426] Chr16:89100811 [GRCh38]
Chr16:89167219 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+7_1613+8del deletion Methylmalonic acidemia [RCV001280416] Chr16:89146056..89146057 [GRCh38]
Chr16:89212464..89212465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.*4G>A single nucleotide variant ACSF3-related disorder [RCV003973176]|Methylmalonic acidemia [RCV001280424] Chr16:89154211 [GRCh38]
Chr16:89220619 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 copy number gain not provided [RCV001258667] Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.436G>A (p.Val146Ile) single nucleotide variant Methylmalonic acidemia [RCV001279211] Chr16:89101117 [GRCh38]
Chr16:89167525 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.507G>A (p.Pro169=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002069451]|Methylmalonic acidemia [RCV001279213] Chr16:89101188 [GRCh38]
Chr16:89167596 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.721G>A (p.Val241Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002486055]|Inborn genetic diseases [RCV003294176]|Methylmalonic acidemia [RCV001279220]|not provided [RCV001760320] Chr16:89102658 [GRCh38]
Chr16:89169066 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.953G>A (p.Arg318His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002486056]|Methylmalonic acidemia [RCV001279226] Chr16:89112222 [GRCh38]
Chr16:89178630 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002504406]|Methylmalonic acidemia [RCV001279227] Chr16:89114374 [GRCh38]
Chr16:89180782 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1571A>G (p.Glu524Gly) single nucleotide variant Methylmalonic acidemia [RCV001280414] Chr16:89146007 [GRCh38]
Chr16:89212415 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+7C>G single nucleotide variant Methylmalonic acidemia [RCV001280417] Chr16:89146056 [GRCh38]
Chr16:89212464 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+8T>A single nucleotide variant Methylmalonic acidemia [RCV001280418] Chr16:89146057 [GRCh38]
Chr16:89212465 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002499489]|Methylmalonic acidemia [RCV001280422]|not specified [RCV004699265] Chr16:89154149 [GRCh38]
Chr16:89220557 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.1621C>T (p.Leu541=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001425619]|Methylmalonic acidemia [RCV001280420] Chr16:89154097 [GRCh38]
Chr16:89220505 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001330532] Chr16:89145344 [GRCh38]
Chr16:89211752 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.866del (p.Val289fs) deletion Combined malonic and methylmalonic acidemia [RCV003460312] Chr16:89112135 [GRCh38]
Chr16:89178543 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001330534] Chr16:89145972 [GRCh38]
Chr16:89212380 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1239+8A>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001392491] Chr16:89120921 [GRCh38]
Chr16:89187329 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.216T>C (p.Tyr72=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001396972] Chr16:89100897 [GRCh38]
Chr16:89167305 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.345A>G (p.Ser115=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001414746] Chr16:89101026 [GRCh38]
Chr16:89167434 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.134C>T (p.Pro45Leu) single nucleotide variant Methylmalonic acidemia [RCV001278427] Chr16:89100815 [GRCh38]
Chr16:89167223 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.145C>T (p.Arg49Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001559238]|Inborn genetic diseases [RCV002541685]|Methylmalonic acidemia [RCV001278429] Chr16:89100826 [GRCh38]
Chr16:89167234 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.278T>A (p.Leu93His) single nucleotide variant Methylmalonic acidemia [RCV001278433] Chr16:89100959 [GRCh38]
Chr16:89167367 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.522C>G (p.Ile174Met) single nucleotide variant Methylmalonic acidemia [RCV001279214] Chr16:89101203 [GRCh38]
Chr16:89167611 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1056G>C (p.Leu352=) single nucleotide variant Methylmalonic acidemia [RCV001279229] Chr16:89114417 [GRCh38]
Chr16:89180825 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs) deletion Combined malonic and methylmalonic acidemia [RCV001382481] Chr16:89133224 [GRCh38]
Chr16:89199632 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.788C>G (p.Thr263Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001312818] Chr16:89102725 [GRCh38]
Chr16:89169133 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89167070)_(89187341_?)dup duplication Combined malonic and methylmalonic acidemia [RCV001365201] Chr16:89167070..89187341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.43G>A (p.Ala15Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002499471]|Inborn genetic diseases [RCV002541683]|Methylmalonic acidemia [RCV001278422] Chr16:89100724 [GRCh38]
Chr16:89167132 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.194G>A (p.Arg65His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002537793]|Inborn genetic diseases [RCV004035471]|Methylmalonic acidemia [RCV001278432] Chr16:89100875 [GRCh38]
Chr16:89167283 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.825T>C (p.Val275=) single nucleotide variant Methylmalonic acidemia [RCV001279221] Chr16:89112094 [GRCh38]
Chr16:89178502 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.116G>A (p.Arg39His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001880260]|Inborn genetic diseases [RCV004035470]|Methylmalonic acidemia [RCV001278423]|not provided [RCV003225173] Chr16:89100797 [GRCh38]
Chr16:89167205 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.190G>A (p.Gly64Ser) single nucleotide variant Methylmalonic acidemia [RCV001278431] Chr16:89100871 [GRCh38]
Chr16:89167279 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.527C>A (p.Thr176Asn) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001342314]|Inborn genetic diseases [RCV004035483]|Methylmalonic acidemia [RCV001279215] Chr16:89101208 [GRCh38]
Chr16:89167616 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.561C>T (p.Val187=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001462644]|Methylmalonic acidemia [RCV001279217] Chr16:89101242 [GRCh38]
Chr16:89167650 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.618G>A (p.Thr206=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002069452]|Methylmalonic acidemia [RCV001279218] Chr16:89101299 [GRCh38]
Chr16:89167707 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.857G>A (p.Arg286Gln) single nucleotide variant Methylmalonic acidemia [RCV001279223] Chr16:89112126 [GRCh38]
Chr16:89178534 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.877G>A (p.Val293Met) single nucleotide variant Methylmalonic acidemia [RCV001279224] Chr16:89112146 [GRCh38]
Chr16:89178554 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1127-9C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001464591]|Methylmalonic acidemia [RCV001279232] Chr16:89120792 [GRCh38]
Chr16:89187200 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1238A>T (p.Lys413Met) single nucleotide variant Methylmalonic acidemia [RCV001279233] Chr16:89120912 [GRCh38]
Chr16:89187320 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1334G>A (p.Ser445Asn) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003479307]|Inborn genetic diseases [RCV004035510]|Methylmalonic acidemia [RCV001280410] Chr16:89133230 [GRCh38]
Chr16:89199638 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1347G>A (p.Leu449=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001511905]|Methylmalonic acidemia [RCV001280411]|not provided [RCV001673042]|not specified [RCV001529539] Chr16:89133243 [GRCh38]
Chr16:89199651 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1366+8C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001395076]|Methylmalonic acidemia [RCV001280412] Chr16:89133270 [GRCh38]
Chr16:89199678 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.*10C>T single nucleotide variant ACSF3-related disorder [RCV003892167]|Methylmalonic acidemia [RCV001280425] Chr16:89154217 [GRCh38]
Chr16:89220625 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001324405] Chr16:89114448 [GRCh38]
Chr16:89180856 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.782G>C (p.Gly261Ala) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001372554] Chr16:89102719 [GRCh38]
Chr16:89169127 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001330531] Chr16:89145301 [GRCh38]
Chr16:89211709 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001330533]|not provided [RCV004692531] Chr16:89100830 [GRCh38]
Chr16:89167238 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1251G>T (p.Gly417=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002541749]|Methylmalonic acidemia [RCV001280409] Chr16:89133147 [GRCh38]
Chr16:89199555 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.1613+3A>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003135914]|Methylmalonic acidemia [RCV001280415] Chr16:89146052 [GRCh38]
Chr16:89212460 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+11_1613+12insGGGG insertion Methylmalonic acidemia [RCV001280419] Chr16:89146057..89146058 [GRCh38]
Chr16:89212465..89212466 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1703C>T (p.Ala568Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002480926]|Inborn genetic diseases [RCV003294180]|Methylmalonic acidemia [RCV001280423] Chr16:89154179 [GRCh38]
Chr16:89220587 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.123C>G (p.Asp41Glu) single nucleotide variant Methylmalonic acidemia [RCV001278425]|not specified [RCV004769993] Chr16:89100804 [GRCh38]
Chr16:89167212 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.135G>A (p.Pro45=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002541684]|Methylmalonic acidemia [RCV001278428] Chr16:89100816 [GRCh38]
Chr16:89167224 [GRCh37]
Chr16:16q24.3		 likely benign|uncertain significance
NM_001243279.3(ACSF3):c.-8T>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002480899]|Methylmalonic acidemia [RCV001278418] Chr16:89100674 [GRCh38]
Chr16:89167082 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.356G>A (p.Gly119Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002493478]|Methylmalonic acidemia [RCV001278438] Chr16:89101037 [GRCh38]
Chr16:89167445 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.701A>T (p.Lys234Ile) single nucleotide variant Methylmalonic acidemia [RCV001279219] Chr16:89102638 [GRCh38]
Chr16:89169046 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1114G>A (p.Val372Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001514024]|Methylmalonic acidemia [RCV001279231]|not provided [RCV001713077]|not specified [RCV001529500] Chr16:89114475 [GRCh38]
Chr16:89180883 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.497C>T (p.Pro166Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002537836]|Methylmalonic acidemia [RCV001279212] Chr16:89101178 [GRCh38]
Chr16:89167586 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.943G>A (p.Asp315Asn) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002541703]|Methylmalonic acidemia [RCV001279225] Chr16:89112212 [GRCh38]
Chr16:89178620 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1375G>A (p.Val459Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002537895]|Methylmalonic acidemia [RCV001280413] Chr16:89145275 [GRCh38]
Chr16:89211683 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001559235]|Methylmalonic acidemia [RCV001280421] Chr16:89154119 [GRCh38]
Chr16:89220527 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.392C>T (p.Ala131Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002486487]|Inborn genetic diseases [RCV002548519]|not provided [RCV001357421] Chr16:89101073 [GRCh38]
Chr16:89167481 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1698G>A (p.Lys566=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001396337] Chr16:89154174 [GRCh38]
Chr16:89220582 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001414032] Chr16:89114483 [GRCh38]
Chr16:89180891 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-6G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001486720] Chr16:89114333 [GRCh38]
Chr16:89180741 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.51G>T (p.Ala17=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001450384] Chr16:89100732 [GRCh38]
Chr16:89167140 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89167070)_(89180915_?)del deletion Combined malonic and methylmalonic acidemia [RCV001384715] Chr16:89167070..89180915 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1311G>A (p.Trp437Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001380278] Chr16:89133207 [GRCh38]
Chr16:89199615 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.643_647del (p.Thr215fs) deletion Combined malonic and methylmalonic acidemia [RCV001389505] Chr16:89101324..89101328 [GRCh38]
Chr16:89167732..89167736 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.135G>C (p.Pro45=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001453652] Chr16:89100816 [GRCh38]
Chr16:89167224 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.51G>A (p.Ala17=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001478418] Chr16:89100732 [GRCh38]
Chr16:89167140 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+9G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001473353] Chr16:89146058 [GRCh38]
Chr16:89212466 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.645G>C (p.Thr215=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001465617] Chr16:89101326 [GRCh38]
Chr16:89167734 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.741C>A (p.Val247=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001491054] Chr16:89102678 [GRCh38]
Chr16:89169086 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001378316] Chr16:89114338 [GRCh38]
Chr16:89180746 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001425359] Chr16:89114441 [GRCh38]
Chr16:89180849 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001471122] Chr16:89114393 [GRCh38]
Chr16:89180801 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.663T>C (p.Ala221=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001486311] Chr16:89101344 [GRCh38]
Chr16:89167752 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.957A>C (p.Ala319=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001431218] Chr16:89112226 [GRCh38]
Chr16:89178634 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-36_1367-7del deletion Combined malonic and methylmalonic acidemia [RCV001454884] Chr16:89145228..89145257 [GRCh38]
Chr16:89211636..89211665 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-4G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001471593] Chr16:89114335 [GRCh38]
Chr16:89180743 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1293C>T (p.Ser431=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001488941] Chr16:89133189 [GRCh38]
Chr16:89199597 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001474304] Chr16:89114441 [GRCh38]
Chr16:89180849 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1605G>A (p.Glu535=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001474314] Chr16:89146041 [GRCh38]
Chr16:89212449 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+10C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001492801] Chr16:89145411 [GRCh38]
Chr16:89211819 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+10G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001459632] Chr16:89101357 [GRCh38]
Chr16:89167765 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1722C>T (p.His574=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001475685] Chr16:89154198 [GRCh38]
Chr16:89220606 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1270del (p.Glu424fs) deletion Combined malonic and methylmalonic acidemia [RCV001390658] Chr16:89133162 [GRCh38]
Chr16:89199570 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1502-11_1502-9del microsatellite Combined malonic and methylmalonic acidemia [RCV001522489]|not provided [RCV001712943] Chr16:89145923..89145925 [GRCh38]
Chr16:89212331..89212333 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.867C>T (p.Val289=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001466089] Chr16:89112136 [GRCh38]
Chr16:89178544 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.822+10G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001393241] Chr16:89102769 [GRCh38]
Chr16:89169177 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.384G>A (p.Lys128=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001426609] Chr16:89101065 [GRCh38]
Chr16:89167473 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89178490)_(89212467_?)dup duplication Combined malonic and methylmalonic acidemia [RCV001379484] Chr16:89178490..89212467 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89167111)_89178323del deletion Combined malonic and methylmalonic acidemia [RCV001379485]   likely pathogenic
NM_001243279.3(ACSF3):c.1236C>G (p.Thr412=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001453602] Chr16:89120910 [GRCh38]
Chr16:89187318 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-8A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001403887] Chr16:89145930 [GRCh38]
Chr16:89212338 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1257A>G (p.Glu419=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001423978] Chr16:89133153 [GRCh38]
Chr16:89199561 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1671G>A (p.Pro557=) single nucleotide variant ACSF3-related disorder [RCV004751988]|Combined malonic and methylmalonic acidemia [RCV001460962]|Inborn genetic diseases [RCV004601503] Chr16:89154147 [GRCh38]
Chr16:89220555 [GRCh37]
Chr16:16q24.3		 likely benign|conflicting interpretations of pathogenicity
NM_001243279.3(ACSF3):c.1728A>G (p.Ser576=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456948] Chr16:89154204 [GRCh38]
Chr16:89220612 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1596G>A (p.Glu532=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001477493] Chr16:89146032 [GRCh38]
Chr16:89212440 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001460200] Chr16:89114414 [GRCh38]
Chr16:89180822 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.900G>A (p.Leu300=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456655] Chr16:89112169 [GRCh38]
Chr16:89178577 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.66G>T (p.Ala22=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456717] Chr16:89100747 [GRCh38]
Chr16:89167155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.369C>G (p.Val123=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001490126] Chr16:89101050 [GRCh38]
Chr16:89167458 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001474875] Chr16:89114468 [GRCh38]
Chr16:89180876 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.846T>C (p.Ser282=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001493680] Chr16:89112115 [GRCh38]
Chr16:89178523 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1455C>T (p.Ser485=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001398849] Chr16:89145355 [GRCh38]
Chr16:89211763 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.757dup (p.Ala253fs) duplication Combined malonic and methylmalonic acidemia [RCV001389079] Chr16:89102693..89102694 [GRCh38]
Chr16:89169101..89169102 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1296del (p.Arg434fs) deletion Combined malonic and methylmalonic acidemia [RCV001382155] Chr16:89133192 [GRCh38]
Chr16:89199600 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.474G>A (p.Pro158=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001417081] Chr16:89101155 [GRCh38]
Chr16:89167563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.555C>G (p.Val185=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001409611] Chr16:89101236 [GRCh38]
Chr16:89167644 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.10:g.89112092del deletion Combined malonic and methylmalonic acidemia [RCV001387252] Chr16:89112091 [GRCh38]
Chr16:89178499 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.171C>T (p.Ile57=) single nucleotide variant ACSF3-related disorder [RCV003920956]|Combined malonic and methylmalonic acidemia [RCV001446224] Chr16:89100852 [GRCh38]
Chr16:89167260 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1164C>T (p.Arg388=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001412031] Chr16:89120838 [GRCh38]
Chr16:89187246 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1730G>A (p.Ter577=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001409689] Chr16:89154206 [GRCh38]
Chr16:89220614 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.990A>G (p.Ser330=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001448996] Chr16:89114351 [GRCh38]
Chr16:89180759 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.219C>A (p.Ser73=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001430803] Chr16:89100900 [GRCh38]
Chr16:89167308 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1251G>A (p.Gly417=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001446797] Chr16:89133147 [GRCh38]
Chr16:89199555 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001392881] Chr16:89114411 [GRCh38]
Chr16:89180819 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter) duplication Combined malonic and methylmalonic acidemia [RCV001381409] Chr16:89133224..89133225 [GRCh38]
Chr16:89199632..89199633 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.678G>A (p.Leu226=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001446690] Chr16:89102615 [GRCh38]
Chr16:89169023 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1467G>A (p.Val489=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001436813] Chr16:89145367 [GRCh38]
Chr16:89211775 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.729G>T (p.Pro243=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001449471] Chr16:89102666 [GRCh38]
Chr16:89169074 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1233G>A (p.Gly411=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001447081] Chr16:89120907 [GRCh38]
Chr16:89187315 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.123C>T (p.Asp41=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001410541] Chr16:89100804 [GRCh38]
Chr16:89167212 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.5_6inv (p.Leu2Pro) inversion Combined malonic and methylmalonic acidemia [RCV001400712] Chr16:89100686..89100687 [GRCh38]
Chr16:89167094..89167095 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001383440] Chr16:89102757 [GRCh38]
Chr16:89169165 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_88709737)_(89220635_?)del deletion Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV001388209] Chr16:88709737..89220635 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001399914] Chr16:89114411 [GRCh38]
Chr16:89180819 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1299T>C (p.Phe433=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001423511] Chr16:89133195 [GRCh38]
Chr16:89199603 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.823-8C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001431278] Chr16:89112084 [GRCh38]
Chr16:89178492 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1533A>G (p.Thr511=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001434635] Chr16:89145969 [GRCh38]
Chr16:89212377 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001423976] Chr16:89101227 [GRCh38]
Chr16:89167635 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.66G>A (p.Ala22=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001408692] Chr16:89100747 [GRCh38]
Chr16:89167155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1392C>A (p.Gly464=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001411290] Chr16:89145292 [GRCh38]
Chr16:89211700 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1227G>A (p.Glu409=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001448049] Chr16:89120901 [GRCh38]
Chr16:89187309 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1710C>T (p.Ile570=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001408514] Chr16:89154186 [GRCh38]
Chr16:89220594 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001384302] Chr16:89101257 [GRCh38]
Chr16:89167665 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.60G>A (p.Arg20=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001435247] Chr16:89100741 [GRCh38]
Chr16:89167149 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.321C>T (p.Ser107=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001432010] Chr16:89101002 [GRCh38]
Chr16:89167410 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001380093] Chr16:89112160 [GRCh38]
Chr16:89178568 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter) single nucleotide variant ACSF3-related disorder [RCV003399204]|Combined malonic and methylmalonic acidemia [RCV001384669] Chr16:89100919 [GRCh38]
Chr16:89167327 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.9:g.(?_89199534)_(89199680_?)del deletion Combined malonic and methylmalonic acidemia [RCV001384713] Chr16:89199534..89199680 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1367-4T>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001468284] Chr16:89145263 [GRCh38]
Chr16:89211671 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-20-21C>A single nucleotide variant not provided [RCV001655305] Chr16:89100641 [GRCh38]
Chr16:89167049 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.502C>T (p.Leu168=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001450376] Chr16:89101183 [GRCh38]
Chr16:89167591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001502346] Chr16:89114402 [GRCh38]
Chr16:89180810 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.823-4G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001468531] Chr16:89112088 [GRCh38]
Chr16:89178496 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.498G>A (p.Pro166=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001479152] Chr16:89101179 [GRCh38]
Chr16:89167587 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.957A>G (p.Ala319=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001469110] Chr16:89112226 [GRCh38]
Chr16:89178634 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.393G>A (p.Ala131=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001462262] Chr16:89101074 [GRCh38]
Chr16:89167482 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1632C>T (p.Tyr544=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001491123] Chr16:89154108 [GRCh38]
Chr16:89220516 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.147T>A (p.Arg49=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001454965] Chr16:89100828 [GRCh38]
Chr16:89167236 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.474G>T (p.Pro158=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001483089] Chr16:89101155 [GRCh38]
Chr16:89167563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+210A>G single nucleotide variant not provided [RCV001643372] Chr16:89145611 [GRCh38]
Chr16:89212019 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.823-52C>T single nucleotide variant not provided [RCV001695640] Chr16:89112040 [GRCh38]
Chr16:89178448 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-20-82G>A single nucleotide variant not provided [RCV001715267] Chr16:89100580 [GRCh38]
Chr16:89166988 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001470356] Chr16:89114468 [GRCh38]
Chr16:89180876 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1380G>T (p.Val460=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001487813] Chr16:89145280 [GRCh38]
Chr16:89211688 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-321G>A single nucleotide variant not provided [RCV001696460] Chr16:89153769 [GRCh38]
Chr16:89220177 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001477470] Chr16:89114453 [GRCh38]
Chr16:89180861 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.201G>A (p.Thr67=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456092]|not provided [RCV004704573] Chr16:89100882 [GRCh38]
Chr16:89167290 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-264A>T single nucleotide variant not provided [RCV001696599] Chr16:89145003 [GRCh38]
Chr16:89211411 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.667-289C>T single nucleotide variant not provided [RCV001715965] Chr16:89102315 [GRCh38]
Chr16:89168723 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.399G>A (p.Gln133=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001488211] Chr16:89101080 [GRCh38]
Chr16:89167488 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.585G>A (p.Lys195=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001488298] Chr16:89101266 [GRCh38]
Chr16:89167674 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.486G>A (p.Lys162=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001481164] Chr16:89101167 [GRCh38]
Chr16:89167575 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.977+185T>C single nucleotide variant not provided [RCV001652812] Chr16:89112431 [GRCh38]
Chr16:89178839 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.-193-25C>A single nucleotide variant not provided [RCV001716181] Chr16:89098566 [GRCh38]
Chr16:89164974 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.435G>A (p.Val145=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456984] Chr16:89101116 [GRCh38]
Chr16:89167524 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-7C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001481563] Chr16:89102597 [GRCh38]
Chr16:89169005 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.12T>C (p.His4=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001464289] Chr16:89100693 [GRCh38]
Chr16:89167101 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1623_1624insCAGAT (p.Ala542fs) insertion Combined malonic and methylmalonic acidemia [RCV001386893] Chr16:89154099..89154100 [GRCh38]
Chr16:89220507..89220508 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89178490)_(89207694_?)del deletion Combined malonic and methylmalonic acidemia [RCV001384716] Chr16:89178490..89207694 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89187199)_(89222264_?)del deletion Combined malonic and methylmalonic acidemia [RCV001384717] Chr16:89187199..89222264 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1224C>T (p.Asp408=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001419024] Chr16:89120898 [GRCh38]
Chr16:89187306 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.72G>A (p.Ala24=) single nucleotide variant ACSF3-related disorder [RCV003908575]|Combined malonic and methylmalonic acidemia [RCV001402960] Chr16:89100753 [GRCh38]
Chr16:89167161 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.444C>T (p.Ala148=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001441962] Chr16:89101125 [GRCh38]
Chr16:89167533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1126+10C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001442033] Chr16:89114497 [GRCh38]
Chr16:89180905 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.555C>T (p.Val185=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001495516] Chr16:89101236 [GRCh38]
Chr16:89167644 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs) deletion Combined malonic and methylmalonic acidemia [RCV001387960] Chr16:89100833..89100839 [GRCh38]
Chr16:89167241..89167247 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.729G>A (p.Pro243=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001481475] Chr16:89102666 [GRCh38]
Chr16:89169074 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1587C>T (p.Ser529=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001487359] Chr16:89146023 [GRCh38]
Chr16:89212431 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.558G>A (p.Pro186=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001482926] Chr16:89101239 [GRCh38]
Chr16:89167647 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1116G>A (p.Val372=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001487787] Chr16:89114477 [GRCh38]
Chr16:89180885 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1449G>A (p.Lys483=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001467298] Chr16:89145349 [GRCh38]
Chr16:89211757 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1368G>A (p.Gly456=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001491162] Chr16:89145268 [GRCh38]
Chr16:89211676 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.540G>A (p.Glu180=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001477021] Chr16:89101221 [GRCh38]
Chr16:89167629 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-4G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001461168] Chr16:89120797 [GRCh38]
Chr16:89187205 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.786C>A (p.Ala262=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001501942] Chr16:89102723 [GRCh38]
Chr16:89169131 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1212C>T (p.His404=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001474340] Chr16:89120886 [GRCh38]
Chr16:89187294 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.75A>G (p.Arg25=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001465052] Chr16:89100756 [GRCh38]
Chr16:89167164 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.333C>T (p.Ala111=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001455823] Chr16:89101014 [GRCh38]
Chr16:89167422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.759G>T (p.Ala253=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001440561] Chr16:89102696 [GRCh38]
Chr16:89169104 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1587C>G (p.Ser529=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001393265] Chr16:89146023 [GRCh38]
Chr16:89212431 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.918G>A (p.Arg306=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001443620] Chr16:89112187 [GRCh38]
Chr16:89178595 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001476564] Chr16:89114453 [GRCh38]
Chr16:89180861 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.894C>G (p.Thr298=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001461511] Chr16:89112163 [GRCh38]
Chr16:89178571 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.189C>T (p.His63=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001434733] Chr16:89100870 [GRCh38]
Chr16:89167278 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001378855] Chr16:89114436 [GRCh38]
Chr16:89180844 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.132C>T (p.Ala44=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001407123] Chr16:89100813 [GRCh38]
Chr16:89167221 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1395G>A (p.Gln465=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001505489] Chr16:89145295 [GRCh38]
Chr16:89211703 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1126+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001377030] Chr16:89114488 [GRCh38]
Chr16:89180896 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1127-7C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001393725] Chr16:89120794 [GRCh38]
Chr16:89187202 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1695C>T (p.Asp565=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001393773] Chr16:89154171 [GRCh38]
Chr16:89220579 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.498G>T (p.Pro166=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001398496] Chr16:89101179 [GRCh38]
Chr16:89167587 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1581A>G (p.Ser527=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001483926] Chr16:89146017 [GRCh38]
Chr16:89212425 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1491C>T (p.Pro497=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001495059] Chr16:89145391 [GRCh38]
Chr16:89211799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-10C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001472103] Chr16:89145928 [GRCh38]
Chr16:89212336 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1359T>C (p.Phe453=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001456575] Chr16:89133255 [GRCh38]
Chr16:89199663 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89160207)_(89212467_?)del deletion Combined malonic and methylmalonic acidemia [RCV001384714] Chr16:89160207..89212467 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1366+9C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001435711] Chr16:89133271 [GRCh38]
Chr16:89199679 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.816T>G (p.Pro272=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001468316] Chr16:89102753 [GRCh38]
Chr16:89169161 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.186_196dup (p.His66fs) duplication Combined malonic and methylmalonic acidemia [RCV001385042] Chr16:89100866..89100867 [GRCh38]
Chr16:89167274..89167275 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.822+22C>T single nucleotide variant not provided [RCV001779899] Chr16:89102781 [GRCh38]
Chr16:89169189 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001243279.3(ACSF3):c.-194+84T>A single nucleotide variant not provided [RCV002251654] Chr16:89094080 [GRCh38]
Chr16:89160488 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.136_146del (p.Val46fs) deletion Combined malonic and methylmalonic acidemia [RCV001785878] Chr16:89100813..89100823 [GRCh38]
Chr16:89167221..89167231 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.*66G>T single nucleotide variant not provided [RCV001779689] Chr16:89154273 [GRCh38]
Chr16:89220681 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001783134] Chr16:89101348 [GRCh38]
Chr16:89167756 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.397C>T (p.Gln133Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001785879] Chr16:89101078 [GRCh38]
Chr16:89167486 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001785880]|not specified [RCV002282576] Chr16:89154149 [GRCh38]
Chr16:89220557 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NC_000016.10:g.89093708C>T single nucleotide variant not provided [RCV001800028] Chr16:89093708 [GRCh38]
Chr16:89160116 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.-194+57G>A single nucleotide variant not provided [RCV001800073] Chr16:89094053 [GRCh38]
Chr16:89160461 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1305A>T (p.Glu435Asp) single nucleotide variant not provided [RCV001764834] Chr16:89133201 [GRCh38]
Chr16:89199609 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp) single nucleotide variant not specified [RCV001733413] Chr16:89101076 [GRCh38]
Chr16:89167484 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1614-118G>A single nucleotide variant not provided [RCV001779653] Chr16:89153972 [GRCh38]
Chr16:89220380 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+12T>G single nucleotide variant not provided [RCV001779675] Chr16:89146061 [GRCh38]
Chr16:89212469 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+81C>T single nucleotide variant not provided [RCV001779902] Chr16:89120994 [GRCh38]
Chr16:89187402 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1240-1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003460358] Chr16:89133135 [GRCh38]
Chr16:89199543 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89164989)_(89222264_?)del deletion Combined malonic and methylmalonic acidemia [RCV001950585] Chr16:89164989..89222264 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.16del (p.Val6fs) deletion Combined malonic and methylmalonic acidemia [RCV001970116] Chr16:89100696 [GRCh38]
Chr16:89167104 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
GRCh37/hg19 16q24.3(chr16:89134317-89368034)x3 copy number gain not provided [RCV001829088] Chr16:89134317..89368034 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001984028] Chr16:89114478 [GRCh38]
Chr16:89180886 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.91C>T (p.Leu31Phe) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001874249] Chr16:89100772 [GRCh38]
Chr16:89167180 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.399G>C (p.Gln133His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001971011]|Inborn genetic diseases [RCV004603122] Chr16:89101080 [GRCh38]
Chr16:89167488 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88985997-89962916) copy number gain not specified [RCV002052564] Chr16:88985997..89962916 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1003del (p.Leu335fs) deletion Combined malonic and methylmalonic acidemia [RCV001929531] Chr16:89114362 [GRCh38]
Chr16:89180770 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.134del (p.Pro45fs) deletion Combined malonic and methylmalonic acidemia [RCV002007382] Chr16:89100812 [GRCh38]
Chr16:89167220 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89183388)_(89187331_?)del deletion Combined malonic and methylmalonic acidemia [RCV001983001] Chr16:89183388..89187331 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002543337]|not specified [RCV001844773] Chr16:89154146 [GRCh38]
Chr16:89220554 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.3(chr16:88801603-89509853) copy number gain not specified [RCV002052562] Chr16:88801603..89509853 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1607G>C (p.Trp536Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001895246] Chr16:89146043 [GRCh38]
Chr16:89212451 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89178490)_(89199680_?)dup duplication Combined malonic and methylmalonic acidemia [RCV002044222] Chr16:89178490..89199680 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89160207)_(89203247_?)del deletion Combined malonic and methylmalonic acidemia [RCV002007523] Chr16:89160207..89203247 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.822+2T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002043777] Chr16:89102761 [GRCh38]
Chr16:89169169 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.3(chr16:88985997-89304889) copy number gain not specified [RCV002052563] Chr16:88985997..89304889 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.365C>T (p.Ala122Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001964200] Chr16:89101046 [GRCh38]
Chr16:89167454 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.16G>C (p.Val6Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002021746] Chr16:89100697 [GRCh38]
Chr16:89167105 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002007207] Chr16:89102754 [GRCh38]
Chr16:89169162 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NC_000016.9:g.(?_88709761)_(89623501_?)dup duplication Hereditary spastic paraplegia 7 [RCV002020725] Chr16:88709761..89623501 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 copy number gain not provided [RCV001829158] Chr16:88000389..90155062 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1495A>C (p.Ile499Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002001159] Chr16:89145395 [GRCh38]
Chr16:89211803 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.32G>T (p.Arg11Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001943096] Chr16:89100713 [GRCh38]
Chr16:89167121 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1609del (p.Ala537fs) deletion Combined malonic and methylmalonic acidemia [RCV001939030] Chr16:89146043 [GRCh38]
Chr16:89212451 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.977+1G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002039124] Chr16:89112247 [GRCh38]
Chr16:89178655 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89211655)_(89220615_?)dup duplication Combined malonic and methylmalonic acidemia [RCV001925602] Chr16:89211655..89220615 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1535G>T (p.Trp512Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002033725] Chr16:89145971 [GRCh38]
Chr16:89212379 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.221G>A (p.Arg74His) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001981196] Chr16:89100902 [GRCh38]
Chr16:89167310 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001941649] Chr16:89101264 [GRCh38]
Chr16:89167672 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1343C>G (p.Thr448Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001925724] Chr16:89133239 [GRCh38]
Chr16:89199647 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs) microsatellite Combined malonic and methylmalonic acidemia [RCV001953501] Chr16:89120855..89120856 [GRCh38]
Chr16:89187263..89187264 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.822+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002015363] Chr16:89102760 [GRCh38]
Chr16:89169168 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1643C>A (p.Ser548Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001902891] Chr16:89154119 [GRCh38]
Chr16:89220527 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1366+9C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001978433] Chr16:89133271 [GRCh38]
Chr16:89199679 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1110del (p.Ala371fs) deletion Combined malonic and methylmalonic acidemia [RCV001877362] Chr16:89114471 [GRCh38]
Chr16:89180879 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1104del (p.Thr369fs) deletion Combined malonic and methylmalonic acidemia [RCV001972657] Chr16:89114465 [GRCh38]
Chr16:89180873 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001921637] Chr16:89114365 [GRCh38]
Chr16:89180773 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001898971] Chr16:89146050 [GRCh38]
Chr16:89212458 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1613+2T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001958998] Chr16:89146051 [GRCh38]
Chr16:89212459 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1711A>G (p.Arg571Gly) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002017081] Chr16:89154187 [GRCh38]
Chr16:89220595 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.371C>G (p.Pro124Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001990361] Chr16:89101052 [GRCh38]
Chr16:89167460 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.315_316delinsCT (p.Ala106Ser) indel Combined malonic and methylmalonic acidemia [RCV001979318] Chr16:89100996..89100997 [GRCh38]
Chr16:89167404..89167405 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001932674] Chr16:89101089 [GRCh38]
Chr16:89167497 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1203C>T (p.Tyr401=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002104458] Chr16:89120877 [GRCh38]
Chr16:89187285 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.747T>C (p.Gly249=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002085793] Chr16:89102684 [GRCh38]
Chr16:89169092 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1542G>A (p.Gln514=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002128495] Chr16:89145978 [GRCh38]
Chr16:89212386 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.573A>T (p.Gly191=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002107333] Chr16:89101254 [GRCh38]
Chr16:89167662 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.366A>G (p.Ala122=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002086355] Chr16:89101047 [GRCh38]
Chr16:89167455 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1491C>G (p.Pro497=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002126322] Chr16:89145391 [GRCh38]
Chr16:89211799 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1665G>A (p.Glu555=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002071214] Chr16:89154141 [GRCh38]
Chr16:89220549 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.282G>A (p.Arg94=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002185472] Chr16:89100963 [GRCh38]
Chr16:89167371 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.870T>C (p.Phe290=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002208791] Chr16:89112139 [GRCh38]
Chr16:89178547 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.810C>T (p.Phe270=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002169964] Chr16:89102747 [GRCh38]
Chr16:89169155 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.912C>T (p.Tyr304=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002085888] Chr16:89112181 [GRCh38]
Chr16:89178589 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1368G>C (p.Gly456=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002147554] Chr16:89145268 [GRCh38]
Chr16:89211676 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002108037] Chr16:89114366 [GRCh38]
Chr16:89180774 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1194C>T (p.Ala398=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002108603] Chr16:89120868 [GRCh38]
Chr16:89187276 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.750G>T (p.Val250=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002113217] Chr16:89102687 [GRCh38]
Chr16:89169095 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.481A>C (p.Arg161=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002205374] Chr16:89101162 [GRCh38]
Chr16:89167570 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1618G>C (p.Val540Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001944892] Chr16:89154094 [GRCh38]
Chr16:89220502 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1425C>T (p.Asp475=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002212221] Chr16:89145325 [GRCh38]
Chr16:89211733 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-8C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002169756] Chr16:89154082 [GRCh38]
Chr16:89220490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+7C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002080525] Chr16:89146056 [GRCh38]
Chr16:89212464 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.465C>T (p.Leu155=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002195926] Chr16:89101146 [GRCh38]
Chr16:89167554 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.324C>T (p.Tyr108=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002094232] Chr16:89101005 [GRCh38]
Chr16:89167413 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=) single nucleotide variant ACSF3-related disorder [RCV003958698]|Combined malonic and methylmalonic acidemia [RCV002105577] Chr16:89114459 [GRCh38]
Chr16:89180867 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.237C>T (p.Ser79=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002167101] Chr16:89100918 [GRCh38]
Chr16:89167326 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.105C>T (p.Ala35=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002186968] Chr16:89100786 [GRCh38]
Chr16:89167194 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.573A>G (p.Gly191=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002076401] Chr16:89101254 [GRCh38]
Chr16:89167662 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1230G>A (p.Arg410=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002149321] Chr16:89120904 [GRCh38]
Chr16:89187312 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.735C>T (p.His245=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002077720] Chr16:89102672 [GRCh38]
Chr16:89169080 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.294C>G (p.Val98=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002134334] Chr16:89100975 [GRCh38]
Chr16:89167383 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1437T>G (p.Thr479=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002149509] Chr16:89145337 [GRCh38]
Chr16:89211745 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.117C>T (p.Arg39=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002192119] Chr16:89100798 [GRCh38]
Chr16:89167206 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.999T>C (p.Ala333=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002171986] Chr16:89114360 [GRCh38]
Chr16:89180768 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1656G>A (p.Leu552=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002097111] Chr16:89154132 [GRCh38]
Chr16:89220540 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.792T>C (p.Cys264=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002169798] Chr16:89102729 [GRCh38]
Chr16:89169137 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1260A>G (p.Glu420=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002092141] Chr16:89133156 [GRCh38]
Chr16:89199564 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002189477] Chr16:89114451 [GRCh38]
Chr16:89180859 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.54C>T (p.Ser18=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002134080] Chr16:89100735 [GRCh38]
Chr16:89167143 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.765C>T (p.Leu255=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002154292] Chr16:89102702 [GRCh38]
Chr16:89169110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1305A>G (p.Glu435=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002157898] Chr16:89133201 [GRCh38]
Chr16:89199609 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-8C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002179658] Chr16:89154082 [GRCh38]
Chr16:89220490 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.648C>T (p.His216=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002081198] Chr16:89101329 [GRCh38]
Chr16:89167737 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.762G>A (p.Leu254=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002098164] Chr16:89102699 [GRCh38]
Chr16:89169107 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1215A>G (p.Ala405=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002119743] Chr16:89120889 [GRCh38]
Chr16:89187297 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1209C>T (p.Ile403=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002156438] Chr16:89120883 [GRCh38]
Chr16:89187291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.297C>A (p.Ser99=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002202346] Chr16:89100978 [GRCh38]
Chr16:89167386 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.987C>A (p.Val329=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002143630] Chr16:89114348 [GRCh38]
Chr16:89180756 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1410C>G (p.Gly470=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002142501] Chr16:89145310 [GRCh38]
Chr16:89211718 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.72G>C (p.Ala24=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002164602] Chr16:89100753 [GRCh38]
Chr16:89167161 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-12T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002140609] Chr16:89154078 [GRCh38]
Chr16:89220486 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003464406]|not specified [RCV002223066] Chr16:89100992 [GRCh38]
Chr16:89167400 [GRCh37]
Chr16:16q24.3		 likely pathogenic|uncertain significance
NM_001243279.3(ACSF3):c.456C>T (p.Tyr152=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002119187] Chr16:89101137 [GRCh38]
Chr16:89167545 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.858G>C (p.Arg286=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002220350] Chr16:89112127 [GRCh38]
Chr16:89178535 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002218780] Chr16:89114480 [GRCh38]
Chr16:89180888 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1345C>T (p.Leu449=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002100251] Chr16:89133241 [GRCh38]
Chr16:89199649 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002100468] Chr16:89114372 [GRCh38]
Chr16:89180780 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1407A>G (p.Arg469=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002104023] Chr16:89145307 [GRCh38]
Chr16:89211715 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1188G>A (p.Arg396=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002203666] Chr16:89120862 [GRCh38]
Chr16:89187270 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.591C>T (p.Ala197=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002160523] Chr16:89101272 [GRCh38]
Chr16:89167680 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1629G>T (p.Pro543=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002143794] Chr16:89154105 [GRCh38]
Chr16:89220513 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89160216)_(89187322_89199543)dup duplication not specified [RCV002222974] Chr16:89160216..89187322 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1719C>T (p.Phe573=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002119512] Chr16:89154195 [GRCh38]
Chr16:89220603 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002119731] Chr16:89114402 [GRCh38]
Chr16:89180810 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.669G>T (p.Val223=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002121718] Chr16:89102606 [GRCh38]
Chr16:89169014 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1410C>A (p.Gly470=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002199823] Chr16:89145310 [GRCh38]
Chr16:89211718 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.390C>G (p.Pro130=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002100370] Chr16:89101071 [GRCh38]
Chr16:89167479 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.939C>T (p.Ala313=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002177849] Chr16:89112208 [GRCh38]
Chr16:89178616 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.141C>T (p.Phe47=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002123958] Chr16:89100822 [GRCh38]
Chr16:89167230 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1320A>G (p.Pro440=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002181741] Chr16:89133216 [GRCh38]
Chr16:89199624 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.669G>A (p.Val223=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002139084] Chr16:89102606 [GRCh38]
Chr16:89169014 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+10T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002158992] Chr16:89120923 [GRCh38]
Chr16:89187331 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_89167090)_(89883023_?)dup duplication KBG syndrome [RCV003116641] Chr16:89167090..89883023 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89167090)_(89220615_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113852] Chr16:89167090..89220615 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89220488)_(89222264_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113853] Chr16:89220488..89222264 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89178490)_(89222264_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113855] Chr16:89178490..89222264 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89199534)_(89222264_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113856] Chr16:89199534..89222264 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89167109)_(89178321_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113857] Chr16:89167109..89178321 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89167090)_(89169187_?)del deletion Combined malonic and methylmalonic acidemia [RCV003113858] Chr16:89167090..89169187 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89167090)_(89187341_?)dup duplication Combined malonic and methylmalonic acidemia [RCV003113859] Chr16:89167090..89187341 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.217T>C (p.Ser73Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003114950] Chr16:89100898 [GRCh38]
Chr16:89167306 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.79A>C (p.Arg27=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003117199] Chr16:89100760 [GRCh38]
Chr16:89167168 [GRCh37]
Chr16:16q24.3		 likely benign
NC_000016.9:g.(?_88870240)_(89484776_?)dup duplication KBG syndrome [RCV003116638] Chr16:88870240..89484776 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89167090)_(89357611_?)dup duplication KBG syndrome [RCV003116639] Chr16:89167090..89357611 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003120176] Chr16:89114413 [GRCh38]
Chr16:89180821 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(89180896_89187208)_(89212458_89220497)dup duplication not specified [RCV003123557] Chr16:89187208..89212458 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1707C>T (p.Leu569=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003121111] Chr16:89154183 [GRCh38]
Chr16:89220591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-2A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003143976] Chr16:89154088 [GRCh38]
Chr16:89220496 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1367-464C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002259423] Chr16:89144803 [GRCh38]
Chr16:89211211 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1577dup (p.His526fs) duplication Combined malonic and methylmalonic acidemia [RCV003230858] Chr16:89146012..89146013 [GRCh38]
Chr16:89212420..89212421 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.89220725_89420725dup200001 duplication KBG syndrome [RCV002275245] Chr16:89220725..89420725 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.88365786_89584412del1218627 deletion KBG syndrome [RCV002275248] Chr16:88365786..89584412 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln) single nucleotide variant not specified [RCV002266182] Chr16:89114422 [GRCh38]
Chr16:89180830 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002266181] Chr16:89101084 [GRCh38]
Chr16:89167492 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.62T>C (p.Leu21Pro) single nucleotide variant Inborn genetic diseases [RCV003286470] Chr16:89100743 [GRCh38]
Chr16:89167151 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89018368-89304889)x3 copy number gain not provided [RCV002473516] Chr16:89018368..89304889 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.609T>C (p.Ser203=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002991762] Chr16:89101290 [GRCh38]
Chr16:89167698 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-23_1396del microsatellite Combined malonic and methylmalonic acidemia [RCV003144652] Chr16:89145184..89145236 [GRCh38]
Chr16:89211592..89211644 [GRCh37]
Chr16:16q24.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002308699] Chr16:89133199 [GRCh38]
Chr16:89199607 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.699C>T (p.Thr233=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003014865] Chr16:89102636 [GRCh38]
Chr16:89169044 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1446C>T (p.Tyr482=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002755086] Chr16:89145346 [GRCh38]
Chr16:89211754 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-10T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002863518] Chr16:89102594 [GRCh38]
Chr16:89169002 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002774978] Chr16:89114390 [GRCh38]
Chr16:89180798 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.49G>A (p.Ala17Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002750878] Chr16:89100730 [GRCh38]
Chr16:89167138 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.229C>T (p.Arg77Cys) single nucleotide variant Inborn genetic diseases [RCV002683493] Chr16:89100910 [GRCh38]
Chr16:89167318 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.159T>G (p.Phe53Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002615677] Chr16:89100840 [GRCh38]
Chr16:89167248 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003073920] Chr16:89114478 [GRCh38]
Chr16:89180886 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1006C>A (p.Pro336Thr) single nucleotide variant Inborn genetic diseases [RCV002687021] Chr16:89114367 [GRCh38]
Chr16:89180775 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1123C>A (p.Pro375Thr) single nucleotide variant Inborn genetic diseases [RCV002864001] Chr16:89114484 [GRCh38]
Chr16:89180892 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.448C>T (p.Gln150Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003017438] Chr16:89101129 [GRCh38]
Chr16:89167537 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002618681] Chr16:89114414 [GRCh38]
Chr16:89180822 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1402A>C (p.Ile468Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002756198] Chr16:89145302 [GRCh38]
Chr16:89211710 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1353C>G (p.Gly451=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002843551] Chr16:89133249 [GRCh38]
Chr16:89199657 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.156C>G (p.Ala52=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002771465] Chr16:89100837 [GRCh38]
Chr16:89167245 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.851C>T (p.Thr284Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003075747]|Inborn genetic diseases [RCV004071920] Chr16:89112120 [GRCh38]
Chr16:89178528 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.755A>G (p.Asn252Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002970829] Chr16:89102692 [GRCh38]
Chr16:89169100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.44C>A (p.Ala15Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002616250] Chr16:89100725 [GRCh38]
Chr16:89167133 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.638T>C (p.Leu213Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002685954] Chr16:89101319 [GRCh38]
Chr16:89167727 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.952C>T (p.Arg318Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003075508] Chr16:89112221 [GRCh38]
Chr16:89178629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.666+17G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003073791] Chr16:89101364 [GRCh38]
Chr16:89167772 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1231_1239+9del deletion Combined malonic and methylmalonic acidemia [RCV002862801] Chr16:89120905..89120922 [GRCh38]
Chr16:89187313..89187330 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1183del (p.Gln395fs) deletion Combined malonic and methylmalonic acidemia [RCV002858549] Chr16:89120857 [GRCh38]
Chr16:89187265 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1721A>C (p.His574Pro) single nucleotide variant Inborn genetic diseases [RCV002839864] Chr16:89154197 [GRCh38]
Chr16:89220605 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.600C>T (p.Ile200=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002972377] Chr16:89101281 [GRCh38]
Chr16:89167689 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.996A>G (p.Ser332=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003015094] Chr16:89114357 [GRCh38]
Chr16:89180765 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.36G>T (p.Leu12=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003016694]|not provided [RCV003427544] Chr16:89100717 [GRCh38]
Chr16:89167125 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1413G>A (p.Arg471=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002975369] Chr16:89145313 [GRCh38]
Chr16:89211721 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1482G>C (p.Leu494=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002881989] Chr16:89145382 [GRCh38]
Chr16:89211790 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-8C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002815264] Chr16:89114331 [GRCh38]
Chr16:89180739 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1491del (p.Ser498fs) deletion Combined malonic and methylmalonic acidemia [RCV002839225] Chr16:89145388 [GRCh38]
Chr16:89211796 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.845C>G (p.Ser282Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002947826] Chr16:89112114 [GRCh38]
Chr16:89178522 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1555G>A (p.Val519Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002618522] Chr16:89145991 [GRCh38]
Chr16:89212399 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1209C>A (p.Ile403=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003021271] Chr16:89120883 [GRCh38]
Chr16:89187291 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.915C>G (p.Asp305Glu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002979696] Chr16:89112184 [GRCh38]
Chr16:89178592 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.473C>T (p.Pro158Leu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002952650] Chr16:89101154 [GRCh38]
Chr16:89167562 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.861C>T (p.Ile287=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002638940] Chr16:89112130 [GRCh38]
Chr16:89178538 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1554T>G (p.Ala518=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002825633] Chr16:89145990 [GRCh38]
Chr16:89212398 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002800372] Chr16:89120846 [GRCh38]
Chr16:89187254 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1137dup (p.Thr380fs) duplication Combined malonic and methylmalonic acidemia [RCV002825299] Chr16:89120807..89120808 [GRCh38]
Chr16:89187215..89187216 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.333C>G (p.Ala111=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002620346] Chr16:89101014 [GRCh38]
Chr16:89167422 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.831A>G (p.Glu277=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002796578] Chr16:89112100 [GRCh38]
Chr16:89178508 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1474C>T (p.His492Tyr) single nucleotide variant Inborn genetic diseases [RCV002783361] Chr16:89145374 [GRCh38]
Chr16:89211782 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.755A>T (p.Asn252Ile) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003081626] Chr16:89102692 [GRCh38]
Chr16:89169100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1499C>G (p.Thr500Arg) single nucleotide variant Inborn genetic diseases [RCV002707760] Chr16:89145399 [GRCh38]
Chr16:89211807 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003021224] Chr16:89114423 [GRCh38]
Chr16:89180831 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.758C>A (p.Ala253Glu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002735774] Chr16:89102695 [GRCh38]
Chr16:89169103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.162G>A (p.Gly54=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003020083] Chr16:89100843 [GRCh38]
Chr16:89167251 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1126+5G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002923672] Chr16:89114492 [GRCh38]
Chr16:89180900 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.666+12C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002909667] Chr16:89101359 [GRCh38]
Chr16:89167767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.743A>G (p.His248Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002923227] Chr16:89102680 [GRCh38]
Chr16:89169088 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.623G>A (p.Arg208Lys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002638076] Chr16:89101304 [GRCh38]
Chr16:89167712 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1568G>A (p.Arg523Gln) single nucleotide variant Inborn genetic diseases [RCV002704098] Chr16:89146004 [GRCh38]
Chr16:89212412 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-1G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003017872] Chr16:89102603 [GRCh38]
Chr16:89169011 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1162C>T (p.Arg388Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002638611]|Inborn genetic diseases [RCV003162088] Chr16:89120836 [GRCh38]
Chr16:89187244 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.671C>T (p.Thr224Ile) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002569478] Chr16:89102608 [GRCh38]
Chr16:89169016 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.498G>C (p.Pro166=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002756867] Chr16:89101179 [GRCh38]
Chr16:89167587 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1524G>C (p.Pro508=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002824474] Chr16:89145960 [GRCh38]
Chr16:89212368 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1419A>C (p.Ser473=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003037639] Chr16:89145319 [GRCh38]
Chr16:89211727 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1366+3A>G single nucleotide variant Inborn genetic diseases [RCV002737157]|not specified [RCV004690380] Chr16:89133265 [GRCh38]
Chr16:89199673 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.220C>T (p.Arg74Cys) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003078955] Chr16:89100901 [GRCh38]
Chr16:89167309 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.549A>G (p.Ala183=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003054537] Chr16:89101230 [GRCh38]
Chr16:89167638 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.906G>A (p.Glu302=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002797184] Chr16:89112175 [GRCh38]
Chr16:89178583 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+10G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003077617] Chr16:89101357 [GRCh38]
Chr16:89167765 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.33C>T (p.Arg11=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003079700] Chr16:89100714 [GRCh38]
Chr16:89167122 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.804T>C (p.Pro268=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002846511] Chr16:89102741 [GRCh38]
Chr16:89169149 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-13C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003080975] Chr16:89145925 [GRCh38]
Chr16:89212333 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-14C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003077735] Chr16:89120787 [GRCh38]
Chr16:89187195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.858G>T (p.Arg286=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002592901] Chr16:89112127 [GRCh38]
Chr16:89178535 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.862A>G (p.Asn288Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002735549] Chr16:89112131 [GRCh38]
Chr16:89178539 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.765C>G (p.Leu255=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002626697] Chr16:89102702 [GRCh38]
Chr16:89169110 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1632C>A (p.Tyr544Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002791548] Chr16:89154108 [GRCh38]
Chr16:89220516 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.92T>C (p.Leu31Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002791509] Chr16:89100773 [GRCh38]
Chr16:89167181 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1263G>A (p.Lys421=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002711592] Chr16:89133159 [GRCh38]
Chr16:89199567 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1366+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003042309] Chr16:89133263 [GRCh38]
Chr16:89199671 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.823-19T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002623376] Chr16:89112073 [GRCh38]
Chr16:89178481 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.856C>T (p.Arg286Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002919231] Chr16:89112125 [GRCh38]
Chr16:89178533 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.867C>A (p.Val289=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002802167] Chr16:89112136 [GRCh38]
Chr16:89178544 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.428G>T (p.Ser143Ile) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002594345] Chr16:89101109 [GRCh38]
Chr16:89167517 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1656G>C (p.Leu552=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003023112] Chr16:89154132 [GRCh38]
Chr16:89220540 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1654C>T (p.Leu552=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002572199] Chr16:89154130 [GRCh38]
Chr16:89220538 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.177G>A (p.Leu59=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002575130] Chr16:89100858 [GRCh38]
Chr16:89167266 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.295_296del (p.Ser99fs) microsatellite Combined malonic and methylmalonic acidemia [RCV002828317] Chr16:89100974..89100975 [GRCh38]
Chr16:89167382..89167383 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.268G>A (p.Gly90Ser) single nucleotide variant Inborn genetic diseases [RCV002666227] Chr16:89100949 [GRCh38]
Chr16:89167357 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1219G>T (p.Gly407Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002876401] Chr16:89120893 [GRCh38]
Chr16:89187301 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.666+1G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003024886] Chr16:89101348 [GRCh38]
Chr16:89167756 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1126+5G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003085568] Chr16:89114492 [GRCh38]
Chr16:89180900 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.255C>T (p.Leu85=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002932188] Chr16:89100936 [GRCh38]
Chr16:89167344 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.885A>G (p.Thr295=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002626561] Chr16:89112154 [GRCh38]
Chr16:89178562 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-2_1367-1del deletion Combined malonic and methylmalonic acidemia [RCV002875830] Chr16:89145265..89145266 [GRCh38]
Chr16:89211673..89211674 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1638G>A (p.Val546=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002644192] Chr16:89154114 [GRCh38]
Chr16:89220522 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.11A>G (p.His4Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003084512] Chr16:89100692 [GRCh38]
Chr16:89167100 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.978-2A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003086280] Chr16:89114337 [GRCh38]
Chr16:89180745 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1516G>A (p.Gly506Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002632985]|Inborn genetic diseases [RCV004070608] Chr16:89145952 [GRCh38]
Chr16:89212360 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.45C>T (p.Ala15=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003044137] Chr16:89100726 [GRCh38]
Chr16:89167134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.538G>C (p.Glu180Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003031668] Chr16:89101219 [GRCh38]
Chr16:89167627 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp) indel Combined malonic and methylmalonic acidemia [RCV003064368]|not specified [RCV003235762] Chr16:89145285..89145307 [GRCh38]
Chr16:89211693..89211715 [GRCh37]
Chr16:16q24.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001243279.3(ACSF3):c.401_404dup (p.Glu135fs) duplication Combined malonic and methylmalonic acidemia [RCV003047875] Chr16:89101081..89101082 [GRCh38]
Chr16:89167489..89167490 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.200C>T (p.Thr67Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003063542] Chr16:89100881 [GRCh38]
Chr16:89167289 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1228_1229del (p.Arg410fs) microsatellite Combined malonic and methylmalonic acidemia [RCV002770389] Chr16:89120899..89120900 [GRCh38]
Chr16:89187307..89187308 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.823-18G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002833140] Chr16:89112074 [GRCh38]
Chr16:89178482 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.396C>A (p.Ala132=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002857092] Chr16:89101077 [GRCh38]
Chr16:89167485 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1280T>C (p.Val427Ala) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002770118] Chr16:89133176 [GRCh38]
Chr16:89199584 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.709G>A (p.Val237Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002598745] Chr16:89102646 [GRCh38]
Chr16:89169054 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1500A>G (p.Thr500=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003061661] Chr16:89145400 [GRCh38]
Chr16:89211808 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1240-1G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002806919] Chr16:89133135 [GRCh38]
Chr16:89199543 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.328G>A (p.Val110Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003060226] Chr16:89101009 [GRCh38]
Chr16:89167417 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.799A>G (p.Met267Val) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003060495]|Inborn genetic diseases [RCV004070262] Chr16:89102736 [GRCh38]
Chr16:89169144 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.880C>T (p.Pro294Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003046424] Chr16:89112149 [GRCh38]
Chr16:89178557 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1495A>G (p.Ile499Val) single nucleotide variant Inborn genetic diseases [RCV002718090] Chr16:89145395 [GRCh38]
Chr16:89211803 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1239+7C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003064017] Chr16:89120920 [GRCh38]
Chr16:89187328 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.278T>G (p.Leu93Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002834171] Chr16:89100959 [GRCh38]
Chr16:89167367 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1183C>T (p.Gln395Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003027386] Chr16:89120857 [GRCh38]
Chr16:89187265 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003045762] Chr16:89114481 [GRCh38]
Chr16:89180889 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.120G>T (p.Ser40=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002833252] Chr16:89100801 [GRCh38]
Chr16:89167209 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+1G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002580689] Chr16:89145402 [GRCh38]
Chr16:89211810 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.468G>A (p.Leu156=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003028889] Chr16:89101149 [GRCh38]
Chr16:89167557 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.294C>T (p.Val98=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003046341] Chr16:89100975 [GRCh38]
Chr16:89167383 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1155A>G (p.Val385=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003029375] Chr16:89120829 [GRCh38]
Chr16:89187237 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.231C>T (p.Arg77=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002599566] Chr16:89100912 [GRCh38]
Chr16:89167320 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.183C>G (p.Asp61Glu) single nucleotide variant Inborn genetic diseases [RCV002648747] Chr16:89100864 [GRCh38]
Chr16:89167272 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1645G>T (p.Glu549Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002966620] Chr16:89154121 [GRCh38]
Chr16:89220529 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.198C>G (p.His66Gln) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003087086] Chr16:89100879 [GRCh38]
Chr16:89167287 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1613+17C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002966134] Chr16:89146066 [GRCh38]
Chr16:89212474 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1524G>T (p.Pro508=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002579215] Chr16:89145960 [GRCh38]
Chr16:89212368 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1635G>A (p.Ala545=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002647614] Chr16:89154111 [GRCh38]
Chr16:89220519 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-9C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002599482] Chr16:89102595 [GRCh38]
Chr16:89169003 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1494C>G (p.Ser498Arg) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003044729] Chr16:89145394 [GRCh38]
Chr16:89211802 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.977+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003090313] Chr16:89112247 [GRCh38]
Chr16:89178655 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.110T>A (p.Val37Glu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002584215] Chr16:89100791 [GRCh38]
Chr16:89167199 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002658411] Chr16:89112209 [GRCh38]
Chr16:89178617 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.952C>A (p.Arg318Ser) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002584998] Chr16:89112221 [GRCh38]
Chr16:89178629 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.822+12dup duplication Combined malonic and methylmalonic acidemia [RCV002655011] Chr16:89102770..89102771 [GRCh38]
Chr16:89169178..89169179 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.414C>G (p.Ile138Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003069638] Chr16:89101095 [GRCh38]
Chr16:89167503 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.739G>A (p.Val247Ile) single nucleotide variant Inborn genetic diseases [RCV002677732] Chr16:89102676 [GRCh38]
Chr16:89169084 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1644G>A (p.Ser548=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002585166] Chr16:89154120 [GRCh38]
Chr16:89220528 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.58C>T (p.Arg20Trp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003071330] Chr16:89100739 [GRCh38]
Chr16:89167147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.667-2A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002609209] Chr16:89102602 [GRCh38]
Chr16:89169010 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1501+4C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003068437] Chr16:89145405 [GRCh38]
Chr16:89211813 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1301G>A (p.Arg434Gln) single nucleotide variant Inborn genetic diseases [RCV002722522] Chr16:89133197 [GRCh38]
Chr16:89199605 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1720del (p.His574fs) deletion Combined malonic and methylmalonic acidemia [RCV002586865] Chr16:89154195 [GRCh38]
Chr16:89220603 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1715A>C (p.His572Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002633814] Chr16:89154191 [GRCh38]
Chr16:89220599 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.757G>A (p.Ala253Thr) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003072394] Chr16:89102694 [GRCh38]
Chr16:89169102 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1560G>C (p.Val520=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003093087] Chr16:89145996 [GRCh38]
Chr16:89212404 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.746G>A (p.Gly249Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002603059] Chr16:89102683 [GRCh38]
Chr16:89169091 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.928C>T (p.Gln310Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003049618] Chr16:89112197 [GRCh38]
Chr16:89178605 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.758C>T (p.Ala253Val) single nucleotide variant Inborn genetic diseases [RCV003189931] Chr16:89102695 [GRCh38]
Chr16:89169103 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1100C>G (p.Pro367Arg) single nucleotide variant Inborn genetic diseases [RCV003220278] Chr16:89114461 [GRCh38]
Chr16:89180869 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn) single nucleotide variant not specified [RCV003324278] Chr16:89114434 [GRCh38]
Chr16:89180842 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1321G>C (p.Glu441Gln) single nucleotide variant Inborn genetic diseases [RCV003308495] Chr16:89133217 [GRCh38]
Chr16:89199625 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.65C>T (p.Ala22Val) single nucleotide variant not provided [RCV003321143] Chr16:89100746 [GRCh38]
Chr16:89167154 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.379A>G (p.Arg127Gly) single nucleotide variant Inborn genetic diseases [RCV003341257] Chr16:89101060 [GRCh38]
Chr16:89167468 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.434T>G (p.Val145Gly) single nucleotide variant Inborn genetic diseases [RCV003356824] Chr16:89101115 [GRCh38]
Chr16:89167523 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.802C>T (p.Pro268Ser) single nucleotide variant Inborn genetic diseases [RCV003344693] Chr16:89102739 [GRCh38]
Chr16:89169147 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.842G>A (p.Ser281Asn) single nucleotide variant Inborn genetic diseases [RCV003381208] Chr16:89112111 [GRCh38]
Chr16:89178519 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.929A>G (p.Gln310Arg) single nucleotide variant Inborn genetic diseases [RCV003354048] Chr16:89112198 [GRCh38]
Chr16:89178606 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003460375] Chr16:89100800 [GRCh38]
Chr16:89167208 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs) duplication Combined malonic and methylmalonic acidemia [RCV003460360] Chr16:89145997..89145998 [GRCh38]
Chr16:89212405..89212406 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1366+1G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003474491] Chr16:89133263 [GRCh38]
Chr16:89199671 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1239+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003474540] Chr16:89120914 [GRCh38]
Chr16:89187322 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003475613] Chr16:89100897 [GRCh38]
Chr16:89167305 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs) duplication Combined malonic and methylmalonic acidemia [RCV003475644] Chr16:89102733..89102734 [GRCh38]
Chr16:89169141..89169142 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003475629] Chr16:89112178 [GRCh38]
Chr16:89178586 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003874294] Chr16:89154180 [GRCh38]
Chr16:89220588 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.714C>T (p.Ile238=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642434] Chr16:89102651 [GRCh38]
Chr16:89169059 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.612G>T (p.Gly204=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642416] Chr16:89101293 [GRCh38]
Chr16:89167701 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003875457] Chr16:89114468 [GRCh38]
Chr16:89180876 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-8T>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642430] Chr16:89145259 [GRCh38]
Chr16:89211667 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.823-1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642471] Chr16:89112091 [GRCh38]
Chr16:89178499 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1502-6C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642483] Chr16:89145932 [GRCh38]
Chr16:89212340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+16del deletion Combined malonic and methylmalonic acidemia [RCV003642494] Chr16:89146062 [GRCh38]
Chr16:89212470 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.667-19G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642495] Chr16:89102585 [GRCh38]
Chr16:89168993 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1502-20A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642512] Chr16:89145918 [GRCh38]
Chr16:89212326 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+10G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642517] Chr16:89101357 [GRCh38]
Chr16:89167765 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+18G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003880469] Chr16:89145419 [GRCh38]
Chr16:89211827 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.977+1G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003466676] Chr16:89112247 [GRCh38]
Chr16:89178655 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.10:g.89157603C>A single nucleotide variant not provided [RCV003426909] Chr16:89157603 [GRCh38]
Chr16:89224011 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1501+1G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003474488] Chr16:89145402 [GRCh38]
Chr16:89211810 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG indel Combined malonic and methylmalonic acidemia [RCV003474512] Chr16:89145226..89145298 [GRCh38]
Chr16:89211634..89211706 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003474528] Chr16:89133220 [GRCh38]
Chr16:89199628 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs) deletion Combined malonic and methylmalonic acidemia [RCV003474520] Chr16:89100827..89100833 [GRCh38]
Chr16:89167235..89167241 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs) indel Combined malonic and methylmalonic acidemia [RCV003475631] Chr16:89154100..89154107 [GRCh38]
Chr16:89220508..89220515 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1293del (p.Val432fs) deletion Combined malonic and methylmalonic acidemia [RCV003474482] Chr16:89133188 [GRCh38]
Chr16:89199596 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1247del (p.Pro416fs) deletion Combined malonic and methylmalonic acidemia [RCV003474500] Chr16:89133140 [GRCh38]
Chr16:89199548 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003475625] Chr16:89101165 [GRCh38]
Chr16:89167573 [GRCh37]
Chr16:16q24.3		 likely pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1 copy number loss not provided [RCV003483304] Chr16:88067200..89460290 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003475641] Chr16:89120877 [GRCh38]
Chr16:89187285 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003475649] Chr16:89101256 [GRCh38]
Chr16:89167664 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs) deletion Combined malonic and methylmalonic acidemia [RCV003460368] Chr16:89100868..89100878 [GRCh38]
Chr16:89167276..89167286 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs) deletion Combined malonic and methylmalonic acidemia [RCV003460384] Chr16:89101087..89101088 [GRCh38]
Chr16:89167495..89167496 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.967del (p.Glu323fs) deletion Combined malonic and methylmalonic acidemia [RCV003466683] Chr16:89112236 [GRCh38]
Chr16:89178644 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs) duplication Combined malonic and methylmalonic acidemia [RCV003466695] Chr16:89145387..89145388 [GRCh38]
Chr16:89211795..89211796 [GRCh37]
Chr16:16q24.3		 likely pathogenic
Single allele deletion KBG syndrome [RCV003388953] Chr16:87169884..89487487 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion KBG syndrome [RCV003388955] Chr16:88621654..89376245 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.653del (p.Asn218fs) deletion Combined malonic and methylmalonic acidemia [RCV003475623] Chr16:89101331 [GRCh38]
Chr16:89167739 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs) indel Combined malonic and methylmalonic acidemia [RCV003475639] Chr16:89101154..89101162 [GRCh38]
Chr16:89167562..89167570 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.560dup (p.Glu189fs) duplication Combined malonic and methylmalonic acidemia [RCV003460364] Chr16:89101240..89101241 [GRCh38]
Chr16:89167648..89167649 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.634G>A (p.Val212Met) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003460333] Chr16:89101315 [GRCh38]
Chr16:89167723 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.265_266del (p.Val89fs) microsatellite Combined malonic and methylmalonic acidemia [RCV003460366] Chr16:89100942..89100943 [GRCh38]
Chr16:89167350..89167351 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs) duplication Combined malonic and methylmalonic acidemia [RCV003460369] Chr16:89133225..89133226 [GRCh38]
Chr16:89199633..89199634 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003460385] Chr16:89112098 [GRCh38]
Chr16:89178506 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1546dup (p.Val516fs) duplication Combined malonic and methylmalonic acidemia [RCV003466688] Chr16:89145979..89145980 [GRCh38]
Chr16:89212387..89212388 [GRCh37]
Chr16:16q24.3		 pathogenic|likely pathogenic
NM_001243279.3(ACSF3):c.749_750del (p.Val250fs) microsatellite Combined malonic and methylmalonic acidemia [RCV003466704] Chr16:89102683..89102684 [GRCh38]
Chr16:89169091..89169092 [GRCh37]
Chr16:16q24.3		 likely pathogenic
Single allele deletion KBG syndrome [RCV003388954] Chr16:88197484..89331695 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.582C>T (p.Asn194=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643113] Chr16:89101263 [GRCh38]
Chr16:89167671 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-19C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529040] Chr16:89114320 [GRCh38]
Chr16:89180728 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1126+18A>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527748] Chr16:89114505 [GRCh38]
Chr16:89180913 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-6C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643228] Chr16:89102598 [GRCh38]
Chr16:89169006 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-12C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643393] Chr16:89120789 [GRCh38]
Chr16:89187197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-2A>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527941] Chr16:89120799 [GRCh38]
Chr16:89187207 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.558G>C (p.Pro186=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529518] Chr16:89101239 [GRCh38]
Chr16:89167647 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.303A>G (p.Leu101=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643454] Chr16:89100984 [GRCh38]
Chr16:89167392 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-11C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529309] Chr16:89145256 [GRCh38]
Chr16:89211664 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.423C>G (p.Ser141=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643299] Chr16:89101104 [GRCh38]
Chr16:89167512 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643519] Chr16:89114377 [GRCh38]
Chr16:89180785 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.822+12_822+61del deletion Combined malonic and methylmalonic acidemia [RCV003643554] Chr16:89102767..89102816 [GRCh38]
Chr16:89169175..89169224 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.838T>C (p.Leu280=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529691] Chr16:89112107 [GRCh38]
Chr16:89178515 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1458C>T (p.Ala486=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529697] Chr16:89145358 [GRCh38]
Chr16:89211766 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1599C>T (p.Leu533=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527983] Chr16:89146035 [GRCh38]
Chr16:89212443 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.822+10G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527985] Chr16:89102769 [GRCh38]
Chr16:89169177 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-7T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003528509] Chr16:89154083 [GRCh38]
Chr16:89220491 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1189del (p.Glu397fs) deletion Combined malonic and methylmalonic acidemia [RCV003643851] Chr16:89120861 [GRCh38]
Chr16:89187269 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1716C>T (p.His572=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529762] Chr16:89154192 [GRCh38]
Chr16:89220600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.977+18A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529768] Chr16:89112264 [GRCh38]
Chr16:89178672 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs) deletion Combined malonic and methylmalonic acidemia [RCV003642740] Chr16:89102746..89102752 [GRCh38]
Chr16:89169154..89169160 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1502-1G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644329] Chr16:89145937 [GRCh38]
Chr16:89212345 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1240-15C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642841] Chr16:89133121 [GRCh38]
Chr16:89199529 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-18G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644458] Chr16:89133118 [GRCh38]
Chr16:89199526 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.363G>A (p.Val121=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644459] Chr16:89101044 [GRCh38]
Chr16:89167452 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-17T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529005] Chr16:89133119 [GRCh38]
Chr16:89199527 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+18G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529712] Chr16:89146067 [GRCh38]
Chr16:89212475 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.876A>G (p.Ala292=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003881880] Chr16:89112145 [GRCh38]
Chr16:89178553 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.856C>A (p.Arg286=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527659] Chr16:89112125 [GRCh38]
Chr16:89178533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.864T>C (p.Asn288=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003528605] Chr16:89112133 [GRCh38]
Chr16:89178541 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.723G>T (p.Val241=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643138] Chr16:89102660 [GRCh38]
Chr16:89169068 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643930] Chr16:89154183 [GRCh38]
Chr16:89220591 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.477G>C (p.Val159=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527834] Chr16:89101158 [GRCh38]
Chr16:89167566 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644029] Chr16:89145331 [GRCh38]
Chr16:89211739 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer) duplication Combined malonic and methylmalonic acidemia [RCV003644048] Chr16:89101003..89101004 [GRCh38]
Chr16:89167411..89167412 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.238del (p.Gln80fs) deletion Combined malonic and methylmalonic acidemia [RCV003527903] Chr16:89100917 [GRCh38]
Chr16:89167325 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1366+15C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643328] Chr16:89133277 [GRCh38]
Chr16:89199685 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-6C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644083] Chr16:89133130 [GRCh38]
Chr16:89199538 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1459C>T (p.Leu487=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529670] Chr16:89145359 [GRCh38]
Chr16:89211767 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.220dup (p.Arg74fs) duplication Combined malonic and methylmalonic acidemia [RCV003528847] Chr16:89100898..89100899 [GRCh38]
Chr16:89167306..89167307 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643452] Chr16:89100924 [GRCh38]
Chr16:89167332 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644208] Chr16:89145300 [GRCh38]
Chr16:89211708 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1545G>T (p.Arg515=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529116] Chr16:89145981 [GRCh38]
Chr16:89212389 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.192C>T (p.Gly64=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644247] Chr16:89100873 [GRCh38]
Chr16:89167281 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.24C>G (p.Thr8=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644254] Chr16:89100705 [GRCh38]
Chr16:89167113 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.27C>T (p.Phe9=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644380] Chr16:89100708 [GRCh38]
Chr16:89167116 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1602del (p.Glu535fs) deletion Combined malonic and methylmalonic acidemia [RCV003644417] Chr16:89146036 [GRCh38]
Chr16:89212444 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644031] Chr16:89114405 [GRCh38]
Chr16:89180813 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1613+20G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529297] Chr16:89146069 [GRCh38]
Chr16:89212477 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.84A>G (p.Gly28=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644079] Chr16:89100765 [GRCh38]
Chr16:89167173 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-11G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643378] Chr16:89102593 [GRCh38]
Chr16:89169001 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1611C>T (p.Ala537=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003528478] Chr16:89146047 [GRCh38]
Chr16:89212455 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.822+15G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529763] Chr16:89102774 [GRCh38]
Chr16:89169182 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.666+16C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643404] Chr16:89101363 [GRCh38]
Chr16:89167771 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+20G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643437] Chr16:89120933 [GRCh38]
Chr16:89187341 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.823-7T>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644324] Chr16:89112085 [GRCh38]
Chr16:89178493 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-7T>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003878956] Chr16:89133129 [GRCh38]
Chr16:89199537 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+19G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527826] Chr16:89120932 [GRCh38]
Chr16:89187340 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643601] Chr16:89120818 [GRCh38]
Chr16:89187226 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-14C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529051] Chr16:89102590 [GRCh38]
Chr16:89168998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.771T>A (p.Pro257=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644448] Chr16:89102708 [GRCh38]
Chr16:89169116 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-4G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643697] Chr16:89102600 [GRCh38]
Chr16:89169008 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.474G>C (p.Pro158=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003527937] Chr16:89101155 [GRCh38]
Chr16:89167563 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.973del (p.Ile325fs) deletion Combined malonic and methylmalonic acidemia [RCV003527960] Chr16:89112237 [GRCh38]
Chr16:89178645 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1127-14C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529144] Chr16:89120787 [GRCh38]
Chr16:89187195 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1367-15G>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643834] Chr16:89145252 [GRCh38]
Chr16:89211660 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-19G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529185] Chr16:89154071 [GRCh38]
Chr16:89220479 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1155A>C (p.Val385=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642710] Chr16:89120829 [GRCh38]
Chr16:89187237 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-19T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642750] Chr16:89133117 [GRCh38]
Chr16:89199525 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+11C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642757] Chr16:89120924 [GRCh38]
Chr16:89187332 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.993C>T (p.Gly331=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643871] Chr16:89114354 [GRCh38]
Chr16:89180762 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+14C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642674] Chr16:89120927 [GRCh38]
Chr16:89187335 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+11C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003877025] Chr16:89120924 [GRCh38]
Chr16:89187332 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+20C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529265] Chr16:89145421 [GRCh38]
Chr16:89211829 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.732G>C (p.Leu244=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003529282] Chr16:89102669 [GRCh38]
Chr16:89169077 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003486353] Chr16:89145276 [GRCh38]
Chr16:89211684 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1366+17T>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643440] Chr16:89133279 [GRCh38]
Chr16:89199687 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.953del (p.Arg318fs) deletion Combined malonic and methylmalonic acidemia [RCV003643412] Chr16:89112222 [GRCh38]
Chr16:89178630 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1367-13C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643592] Chr16:89145254 [GRCh38]
Chr16:89211662 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-18G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643431] Chr16:89120783 [GRCh38]
Chr16:89187191 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.33C>G (p.Arg11=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643556] Chr16:89100714 [GRCh38]
Chr16:89167122 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643571] Chr16:89120880 [GRCh38]
Chr16:89187288 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643745] Chr16:89100865 [GRCh38]
Chr16:89167273 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs) duplication Combined malonic and methylmalonic acidemia [RCV003643819] Chr16:89112164..89112165 [GRCh38]
Chr16:89178572..89178573 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.693A>G (p.Ala231=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003881149] Chr16:89102630 [GRCh38]
Chr16:89169038 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.108A>G (p.Pro36=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644022] Chr16:89100789 [GRCh38]
Chr16:89167197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644096] Chr16:89133141 [GRCh38]
Chr16:89199549 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.633C>G (p.Gly211=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644030] Chr16:89101314 [GRCh38]
Chr16:89167722 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644131] Chr16:89145999 [GRCh38]
Chr16:89212407 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.837C>T (p.Phe279=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644169] Chr16:89112106 [GRCh38]
Chr16:89178514 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-20C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003643848] Chr16:89114319 [GRCh38]
Chr16:89180727 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs) duplication Combined malonic and methylmalonic acidemia [RCV003642597] Chr16:89112156..89112157 [GRCh38]
Chr16:89178564..89178565 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.255C>G (p.Leu85=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642579] Chr16:89100936 [GRCh38]
Chr16:89167344 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1614-16G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642647] Chr16:89154074 [GRCh38]
Chr16:89220482 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1239+13G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642823] Chr16:89120926 [GRCh38]
Chr16:89187334 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1366+11G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642580] Chr16:89133273 [GRCh38]
Chr16:89199681 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.822+16G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642591] Chr16:89102775 [GRCh38]
Chr16:89169183 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.789C>G (p.Thr263=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642651] Chr16:89102726 [GRCh38]
Chr16:89169134 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1127-12C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642671] Chr16:89120789 [GRCh38]
Chr16:89187197 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.657C>T (p.Ile219=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642691] Chr16:89101338 [GRCh38]
Chr16:89167746 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.151C>T (p.Leu51=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003642709] Chr16:89100832 [GRCh38]
Chr16:89167240 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1366+11_1366+16del deletion Combined malonic and methylmalonic acidemia [RCV003644346] Chr16:89133269..89133274 [GRCh38]
Chr16:89199677..89199682 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003835065] Chr16:89145310 [GRCh38]
Chr16:89211718 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-19C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003839305] Chr16:89114320 [GRCh38]
Chr16:89180728 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1366+16A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003839768] Chr16:89133278 [GRCh38]
Chr16:89199686 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1501+12G>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003837667] Chr16:89145413 [GRCh38]
Chr16:89211821 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-14C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003818991] Chr16:89102590 [GRCh38]
Chr16:89168998 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-11A>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003858133] Chr16:89133125 [GRCh38]
Chr16:89199533 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.501G>A (p.Leu167=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003847881] Chr16:89101182 [GRCh38]
Chr16:89167590 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.453G>A (p.Glu151=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003859249] Chr16:89101134 [GRCh38]
Chr16:89167542 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003872517] Chr16:89112173 [GRCh38]
Chr16:89178581 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003859697] Chr16:89101016 [GRCh38]
Chr16:89167424 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1296G>C (p.Val432=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003864824] Chr16:89133192 [GRCh38]
Chr16:89199600 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003843165] Chr16:89154093 [GRCh38]
Chr16:89220501 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.252G>A (p.Arg84=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003868722] Chr16:89100933 [GRCh38]
Chr16:89167341 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.3(chr16:89151360-89518831)x1 copy number loss not specified [RCV003987155] Chr16:89151360..89518831 [GRCh37]
Chr16:16q24.3		 pathogenic
GRCh37/hg19 16q24.3(chr16:89127212-89339094)x3 copy number gain not specified [RCV003987158] Chr16:89127212..89339094 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.666+19C>T single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003821396] Chr16:89101366 [GRCh38]
Chr16:89167774 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.261G>C (p.Gly87=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003821748] Chr16:89100942 [GRCh38]
Chr16:89167350 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003847514] Chr16:89154201 [GRCh38]
Chr16:89220609 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.1240-20A>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003819512] Chr16:89133116 [GRCh38]
Chr16:89199524 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.667-9C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003863730] Chr16:89102595 [GRCh38]
Chr16:89169003 [GRCh37]
Chr16:16q24.3		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1 copy number loss not provided [RCV003885482] Chr16:87866576..89424113 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.282G>C (p.Arg94=) single nucleotide variant ACSF3-related disorder [RCV003954437] Chr16:89100963 [GRCh38]
Chr16:89167371 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.647A>C (p.His216Pro) single nucleotide variant Inborn genetic diseases [RCV004430552] Chr16:89101328 [GRCh38]
Chr16:89167736 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.83G>A (p.Gly28Glu) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV004577097] Chr16:89100764 [GRCh38]
Chr16:89167172 [GRCh37]
Chr16:16q24.3		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1355G>T (p.Trp452Leu) single nucleotide variant Inborn genetic diseases [RCV004430453] Chr16:89133251 [GRCh38]
Chr16:89199659 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.594G>A (p.Met198Ile) single nucleotide variant Inborn genetic diseases [RCV004430546] Chr16:89101275 [GRCh38]
Chr16:89167683 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.583A>G (p.Lys195Glu) single nucleotide variant Inborn genetic diseases [RCV004430540] Chr16:89101264 [GRCh38]
Chr16:89167672 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_88717344)_(90106937_?)dup duplication KBG syndrome [RCV004581568] Chr16:88717344..90106937 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_89167111)_(89178323_?)del deletion Combined malonic and methylmalonic acidemia [RCV004582735] Chr16:89167111..89178323 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NC_000016.9:g.(?_89211655)_(89212477_?)del deletion Combined malonic and methylmalonic acidemia [RCV004582734] Chr16:89211655..89212477 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89180727)_(89199690_?)del deletion Combined malonic and methylmalonic acidemia [RCV004582732] Chr16:89180727..89199690 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89167090)_(89187341_?)del deletion Combined malonic and methylmalonic acidemia [RCV004582731] Chr16:89167090..89187341 [GRCh37]
Chr16:16q24.3		 pathogenic
NC_000016.9:g.(?_89167090)_(89212477_?)del deletion Combined malonic and methylmalonic acidemia [RCV004582730] Chr16:89167090..89212477 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.1239+1351C>A single nucleotide variant Combined malonic and methylmalonic acidemia [RCV004698713] Chr16:89122264 [GRCh38]
Chr16:89188672 [GRCh37]
Chr16:16q24.3		 benign
NC_000016.9:g.(?_88851289)_(89383486_?)del deletion not provided [RCV004582890] Chr16:88851289..89383486 [GRCh37]
Chr16:16q24.3		 pathogenic
NM_001243279.3(ACSF3):c.985G>A (p.Val329Ile) single nucleotide variant Inborn genetic diseases [RCV004606220] Chr16:89114346 [GRCh38]
Chr16:89180754 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1658T>C (p.Val553Ala) single nucleotide variant Inborn genetic diseases [RCV004606225] Chr16:89154134 [GRCh38]
Chr16:89220542 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(?_87921735)_(89484776_?)del deletion KBG syndrome [RCV004581567] Chr16:87921735..89484776 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV004575451] Chr16:89154108 [GRCh38]
Chr16:89220516 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1448dup (p.Val484fs) duplication Combined malonic and methylmalonic acidemia [RCV004575487] Chr16:89145346..89145347 [GRCh38]
Chr16:89211754..89211755 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.556C>G (p.Pro186Ala) single nucleotide variant not provided [RCV004575944] Chr16:89101237 [GRCh38]
Chr16:89167645 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1426A>G (p.Ile476Val) single nucleotide variant Inborn genetic diseases [RCV004606232] Chr16:89145326 [GRCh38]
Chr16:89211734 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.1367-2A>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV004575453] Chr16:89145265 [GRCh38]
Chr16:89211673 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1382_1383del (p.Val460_Phe461insTer) deletion Combined malonic and methylmalonic acidemia [RCV004575457] Chr16:89145281..89145282 [GRCh38]
Chr16:89211689..89211690 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1294G>A (p.Val432Met) single nucleotide variant Inborn genetic diseases [RCV004606200] Chr16:89133190 [GRCh38]
Chr16:89199598 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs) deletion Combined malonic and methylmalonic acidemia [RCV004575452] Chr16:89101196..89101202 [GRCh38]
Chr16:89167604..89167610 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV004575475] Chr16:89102633 [GRCh38]
Chr16:89169041 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1333_1334del (p.Ser445fs) microsatellite Combined malonic and methylmalonic acidemia [RCV004575482] Chr16:89133227..89133228 [GRCh38]
Chr16:89199635..89199636 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1192del (p.Ala398fs) deletion Combined malonic and methylmalonic acidemia [RCV004575491] Chr16:89120866 [GRCh38]
Chr16:89187274 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1234del (p.Thr412fs) deletion Combined malonic and methylmalonic acidemia [RCV004575493] Chr16:89120908 [GRCh38]
Chr16:89187316 [GRCh37]
Chr16:16q24.3		 likely pathogenic
NM_001243279.3(ACSF3):c.1015G>A (p.Val339Met) single nucleotide variant Inborn genetic diseases [RCV004606212] Chr16:89114376 [GRCh38]
Chr16:89180784 [GRCh37]
Chr16:16q24.3		 uncertain significance
NM_001243279.3(ACSF3):c.*3C>G single nucleotide variant ACSF3-related disorder [RCV004752203] Chr16:89154210 [GRCh38]
Chr16:89220618 [GRCh37]
Chr16:16q24.3		 likely benign
NM_001243279.3(ACSF3):c.978-5C>A single nucleotide variant ACSF3-related disorder [RCV004752226] Chr16:89114334 [GRCh38]
Chr16:89180742 [GRCh37]
Chr16:16q24.3		 uncertain significance
NC_000016.9:g.(89165172_89167069)_(89187322_89199543)dup duplication not specified [RCV004766506] Chr16:89167069..89187322 [GRCh37]
Chr16:16q24.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5722
Count of miRNA genes:1161
Interacting mature miRNAs:1482
Transcripts:ENST00000317447, ENST00000378345, ENST00000393145, ENST00000406948, ENST00000535176, ENST00000537116, ENST00000537155, ENST00000537290, ENST00000537895, ENST00000538340, ENST00000540697, ENST00000541755, ENST00000542688, ENST00000543676, ENST00000544543, ENST00000562204, ENST00000562750
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407061507GWAS710483_Hethylmalonate measurement QTL GWAS710483 (human)3e-11ethylmalonate measurement168910073089100731Human
407187781GWAS836757_Hmean corpuscular hemoglobin QTL GWAS836757 (human)2e-08mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168912390589123906Human
407221255GWAS870231_HHerpes Zoster, response to tofacitinib QTL GWAS870231 (human)0.000002Herpes Zoster, response to tofacitinib168914500389145004Human
406943491GWAS592467_Hhemoglobin measurement QTL GWAS592467 (human)0.0000003hemoglobin measurementhemoglobin measurement (CMO:0000508)168915295889152959Human
407008545GWAS657521_HHerpes Zoster, response to tofacitinib QTL GWAS657521 (human)3e-08Herpes Zoster, response to tofacitinib168914500389145004Human
406896196GWAS545172_Hethylmalonate measurement QTL GWAS545172 (human)4e-41ethylmalonate measurement168910170789101708Human
407257507GWAS906483_Hcadherin-15 measurement QTL GWAS906483 (human)7e-37cadherin-15 measurement168913270089132701Human
407061509GWAS710485_Hethylmalonate measurement QTL GWAS710485 (human)8e-19ethylmalonate measurement168910073089100731Human
407314157GWAS963133_Hmethylmalonate (MMA) measurement QTL GWAS963133 (human)1e-146methylmalonate (MMA) measurement168910287689102877Human
406903759GWAS552735_HCOVID-19 QTL GWAS552735 (human)0.00001COVID-19168910525389105254Human
407321320GWAS970296_Hethylmalonate measurement QTL GWAS970296 (human)1e-46ethylmalonate measurement168911853489118535Human
407194485GWAS843461_Hhair colour measurement QTL GWAS843461 (human)3e-12hair colour measurementcoat/hair color measurement (CMO:0001808)168910326789103268Human
407194487GWAS843463_Hhair colour measurement QTL GWAS843463 (human)1e-09hair colour measurementcoat/hair color measurement (CMO:0001808)168913718589137186Human
407194486GWAS843462_Hhair colour measurement QTL GWAS843462 (human)1e-21hair colour measurementcoat/hair color measurement (CMO:0001808)168913111489131115Human
407119056GWAS768032_Hsunburn QTL GWAS768032 (human)2e-38sunburn168911876789118768Human
407008408GWAS657384_HHerpes Zoster, response to tofacitinib QTL GWAS657384 (human)0.0000007Herpes Zoster, response to tofacitinib168914500389145004Human
407008473GWAS657449_HHerpes Zoster, response to tofacitinib QTL GWAS657449 (human)2e-08Herpes Zoster, response to tofacitinib168914500389145004Human
407293787GWAS942763_Hrevision of total hip arthroplasty, aseptic loosening QTL GWAS942763 (human)0.0000003revision of total hip arthroplasty, aseptic loosening168909520289095203Human
407194488GWAS843464_Hhair colour measurement QTL GWAS843464 (human)9e-19hair colour measurementcoat/hair color measurement (CMO:0001808)168914782289147823Human
407283481GWAS932457_Hbody height QTL GWAS932457 (human)5e-16body height (VT:0001253)body height (CMO:0000106)168910279789102798Human

Markers in Region
RH79754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,217,605 - 89,217,702UniSTSGRCh37
Build 361687,745,106 - 87,745,203RGDNCBI36
Celera1674,283,227 - 74,283,324RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,916,886 - 74,916,983UniSTS
RH65209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,219,050 - 89,219,235UniSTSGRCh37
Build 361687,746,551 - 87,746,736RGDNCBI36
Celera1674,284,671 - 74,284,856RGD
Cytogenetic Map16q24.3UniSTS
HuRef1674,918,330 - 74,918,515UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4971 1726 2351 5 624 1951 465 2267 7302 6470 53 3734 1 851 1744 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_174917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI837487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ953430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX325026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX402632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX404035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR976321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS051329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA062861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY100877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000317447   ⟹   ENSP00000320646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,852 - 89,156,233 (+)Ensembl
Ensembl Acc Id: ENST00000378345   ⟹   ENSP00000367596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,898 - 89,154,588 (+)Ensembl
Ensembl Acc Id: ENST00000393145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,147,567 - 89,154,586 (+)Ensembl
Ensembl Acc Id: ENST00000406948   ⟹   ENSP00000384627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,883 - 89,154,589 (+)Ensembl
Ensembl Acc Id: ENST00000535176   ⟹   ENSP00000443428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,145,950 - 89,151,348 (+)Ensembl
Ensembl Acc Id: ENST00000537116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,136,548 - 89,155,846 (+)Ensembl
Ensembl Acc Id: ENST00000537155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,145,161 - 89,154,584 (+)Ensembl
Ensembl Acc Id: ENST00000537290   ⟹   ENSP00000440734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,855 - 89,102,648 (+)Ensembl
Ensembl Acc Id: ENST00000537895   ⟹   ENSP00000439201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,088,375 - 89,114,473 (+)Ensembl
Ensembl Acc Id: ENST00000538340   ⟹   ENSP00000445870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,613 - 89,122,392 (+)Ensembl
Ensembl Acc Id: ENST00000540697   ⟹   ENSP00000445397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,868 - 89,133,262 (+)Ensembl
Ensembl Acc Id: ENST00000541755   ⟹   ENSP00000457301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,904 - 89,100,767 (+)Ensembl
Ensembl Acc Id: ENST00000542688   ⟹   ENSP00000446281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,098,711 - 89,154,540 (+)Ensembl
Ensembl Acc Id: ENST00000543676   ⟹   ENSP00000442683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,696 - 89,122,832 (+)Ensembl
Ensembl Acc Id: ENST00000544543   ⟹   ENSP00000442781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,352 - 89,145,400 (+)Ensembl
Ensembl Acc Id: ENST00000562204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,112,201 - 89,146,044 (+)Ensembl
Ensembl Acc Id: ENST00000562750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,150,600 - 89,151,222 (+)Ensembl
Ensembl Acc Id: ENST00000614302   ⟹   ENSP00000479130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,852 - 89,156,233 (+)Ensembl
Ensembl Acc Id: ENST00000649953   ⟹   ENSP00000497456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,100,662 - 89,164,121 (+)Ensembl
RefSeq Acc Id: NM_001127214   ⟹   NP_001120686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,155,837 (+)NCBI
GRCh371689,160,217 - 89,222,171 (+)NCBI
Celera1674,226,564 - 74,287,794 (+)RGD
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,571,314 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,235,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243279   ⟹   NP_001230208
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,156,233 (+)NCBI
GRCh371689,160,217 - 89,222,171 (+)NCBI
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,571,314 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,236,254 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284316   ⟹   NP_001271245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,155,837 (+)NCBI
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,571,314 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,235,858 (+)NCBI
Sequence:
RefSeq Acc Id: NM_174917   ⟹   NP_777577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,155,837 (+)NCBI
GRCh371689,160,217 - 89,222,171 (+)NCBI
Build 361687,687,825 - 87,749,670 (+)NCBI Archive
Celera1674,226,564 - 74,287,794 (+)RGD
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,571,314 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,235,858 (+)NCBI
Sequence:
RefSeq Acc Id: NR_045667
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,136,548 - 89,155,846 (+)NCBI
GRCh371689,160,217 - 89,222,171 (+)NCBI
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,613,942 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,216,503 - 95,235,867 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104293
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,155,837 (+)NCBI
HuRef1674,859,689 - 74,921,538 (+)NCBI
CHM1_11690,571,314 - 90,633,542 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,235,858 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147928
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,852 - 89,155,837 (+)NCBI
T2T-CHM13v2.01695,173,811 - 95,235,858 (+)NCBI
Sequence: