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 Genes
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

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: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
847 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 condition [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 condition [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] 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|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
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 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 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 16q24.2-24.3(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.49G>C (p.Ala17Pro) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523009]|Methylmalonic acidemia [RCV001274009]|not specified [RCV000123490] Chr16:89100730 [GRCh38]
Chr16:89167138 [GRCh37]
Chr16:16q24.3		 benign
NM_001243279.3(ACSF3):c.1367-13C>G single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001511913]|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] 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 specified [RCV000123489] Chr16:89100686 [GRCh38]
Chr16:89167094 [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 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 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 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 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 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 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 specified [RCV000123497] Chr16:89102592 [GRCh38]
Chr16:89169000 [GRCh37]
Chr16:16q24.3		 benign
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 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 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
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 condition [RCV003977489]|Combined malonic and methylmalonic acidemia [RCV000660548]|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
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
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
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
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 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 condition [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 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 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.297C>T (p.Ser99=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV001523082]|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 condition [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 condition [RCV003942427]|Combined malonic and methylmalonic acidemia [RCV000953568]|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 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 condition [RCV003401529]|Combined malonic and methylmalonic acidemia [RCV001274046]|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]|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 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] 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 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 condition [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 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 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 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
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] 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		 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
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.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 condition [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 condition [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 condition [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 condition [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 condition [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
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 condition [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 Combined malonic and methylmalonic acidemia [RCV000937916] 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 condition [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 condition [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] 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
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.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 condition [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 condition [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 condition [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] 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 condition [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
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 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 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 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.1A>G (p.Met1Val) single nucleotide variant ACSF3-related condition [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
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 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.1467G>C (p.Val489=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV000889113]|not provided [RCV001703761] Chr16:89145367 [GRCh38]
Chr16:89211775 [GRCh37]
Chr16:16q24.3		 benign|likely benign
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 16q24.3(chr16:88983242-89648778)x3 copy number gain not provided [RCV000683858] Chr16:88983242..89648778 [GRCh37]
Chr16:16q24.3		 uncertain significance
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
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
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.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
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
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.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 condition [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]
Chr16:89169284 [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
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
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 condition [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] 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]|Methylmalonic acidemia [RCV001278432] Chr16:89100875 [GRCh38]
Chr16:89167283 [GRCh37]
Chr16:16q24.3		 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]|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]|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]|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 condition [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] 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] 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.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 Combined malonic and methylmalonic acidemia [RCV001460962] 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 condition [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 condition [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] 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 condition [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 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
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
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
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] 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
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.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 condition [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
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
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 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
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] 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.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] 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.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] 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.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.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] 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
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.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.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.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.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.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.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.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 condition [RCV003954437] Chr16:89100963 [GRCh38]
Chr16:89167371 [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
GRCh37/hg19 16q24.3(chr16:89202153-89421807)x3 copy number gain not provided [RCV001006841] Chr16:89202153..89421807 [GRCh37]
Chr16:16q24.3		 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.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.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
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
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.481A>C (p.Arg161=) single nucleotide variant Combined malonic and methylmalonic acidemia [RCV002205374] Chr16:89101162 [GRCh38]
Chr16:89167570 [GRCh37]
Chr16:16q24.3		 likely benign
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
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
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
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.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.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.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.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.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.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.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.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.1502-1G>C single nucleotide variant Combined malonic and methylmalonic acidemia [RCV003644329] Chr16:89145937 [GRCh38]
Chr16:89212345 [GRCh37]
Chr16:16q24.3		 likely pathogenic
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.

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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 418 99 623 22 714 16 492 66 593 45 594 542 9 21 406
Low 2021 2885 1102 602 1235 448 3861 2124 3133 373 866 1068 165 1 1183 2382 5 2
Below cutoff 7 1 2 1 1 5 8 2 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

Reference Sequences
RefSeq Acc Id: ENST00000317447   ⟹   ENSP00000320646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,852 - 89,156,233 (+)Ensembl
RefSeq Acc Id: ENST00000378345   ⟹   ENSP00000367596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,898 - 89,154,588 (+)Ensembl
RefSeq Acc Id: ENST00000393145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,147,567 - 89,154,586 (+)Ensembl
RefSeq Acc Id: ENST00000406948   ⟹   ENSP00000384627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,883 - 89,154,589 (+)Ensembl
RefSeq Acc Id: ENST00000535176   ⟹   ENSP00000443428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,145,950 - 89,151,348 (+)Ensembl
RefSeq Acc Id: ENST00000537116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,136,548 - 89,155,846 (+)Ensembl
RefSeq Acc Id: ENST00000537155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,145,161 - 89,154,584 (+)Ensembl
RefSeq Acc Id: ENST00000537290   ⟹   ENSP00000440734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,855 - 89,102,648 (+)Ensembl
RefSeq Acc Id: ENST00000537895   ⟹   ENSP00000439201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,088,375 - 89,114,473 (+)Ensembl
RefSeq Acc Id: ENST00000538340   ⟹   ENSP00000445870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,613 - 89,122,392 (+)Ensembl
RefSeq Acc Id: ENST00000540697   ⟹   ENSP00000445397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,868 - 89,133,262 (+)Ensembl
RefSeq Acc Id: ENST00000541755   ⟹   ENSP00000457301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,904 - 89,100,767 (+)Ensembl
RefSeq Acc Id: ENST00000542688   ⟹   ENSP00000446281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,098,711 - 89,154,540 (+)Ensembl
RefSeq Acc Id: ENST00000543676   ⟹   ENSP00000442683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,696 - 89,122,832 (+)Ensembl
RefSeq Acc Id: ENST00000544543   ⟹   ENSP00000442781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,102,352 - 89,145,400 (+)Ensembl
RefSeq Acc Id: ENST00000562204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,112,201 - 89,146,044 (+)Ensembl
RefSeq Acc Id: ENST00000562750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,150,600 - 89,151,222 (+)Ensembl
RefSeq Acc Id: ENST00000614302   ⟹   ENSP00000479130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1689,093,852 - 89,156,233 (+)Ensembl
RefSeq 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:
RefSeq Acc Id: NR_147929
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:
Reference Protein Sequences
RefSeq Acc Id: NP_777577   ⟸   NM_174917
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6INA0 (UniProtKB/Swiss-Prot),   C9JQL6 (UniProtKB/Swiss-Prot),   A8K4J8 (UniProtKB/Swiss-Prot),   Q8N2F7 (UniProtKB/Swiss-Prot),   Q4G176 (UniProtKB/Swiss-Prot),   A0A3B3ISK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120686   ⟸   NM_001127214
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6INA0 (UniProtKB/Swiss-Prot),   C9JQL6 (UniProtKB/Swiss-Prot),   A8K4J8 (UniProtKB/Swiss-Prot),   Q8N2F7 (UniProtKB/Swiss-Prot),   Q4G176 (UniProtKB/Swiss-Prot),   A0A3B3ISK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230208   ⟸   NM_001243279
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6INA0 (UniProtKB/Swiss-Prot),   C9JQL6 (UniProtKB/Swiss-Prot),   A8K4J8 (UniProtKB/Swiss-Prot),   Q8N2F7 (UniProtKB/Swiss-Prot),   Q4G176 (UniProtKB/Swiss-Prot),   A0A3B3ISK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001271245   ⟸   NM_001284316
- Peptide Label: isoform 2
- UniProtKB: F5H5A1 (UniProtKB/TrEMBL),   Q6P2C7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000457301   ⟸   ENST00000541755
RefSeq Acc Id: ENSP00000446281   ⟸   ENST00000542688
RefSeq Acc Id: ENSP00000497456   ⟸   ENST00000649953
RefSeq Acc Id: ENSP00000442683   ⟸   ENST00000543676
RefSeq Acc Id: ENSP00000442781   ⟸   ENST00000544543
RefSeq Acc Id: ENSP00000367596   ⟸   ENST00000378345
RefSeq Acc Id: ENSP00000443428   ⟸   ENST00000535176
RefSeq Acc Id: ENSP00000479130   ⟸   ENST00000614302
RefSeq Acc Id: ENSP00000439201   ⟸   ENST00000537895
RefSeq Acc Id: ENSP00000440734   ⟸   ENST00000537290
RefSeq Acc Id: ENSP00000445870   ⟸   ENST00000538340
RefSeq Acc Id: ENSP00000384627   ⟸   ENST00000406948
RefSeq Acc Id: ENSP00000320646   ⟸   ENST00000317447
RefSeq Acc Id: ENSP00000445397   ⟸   ENST00000540697
Protein Domains
AMP-binding enzyme C-terminal   AMP-dependent synthetase/ligase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4G176-F1-model_v2 AlphaFold Q4G176 1-576 view protein structure

Promoters
RGD ID:6793060
Promoter ID:HG_KWN:24493
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000393145,   OTTHUMT00000269919,   UC010CIG.1,   UC010CIH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,687,509 - 87,688,009 (+)MPROMDB
RGD ID:6792765
Promoter ID:HG_KWN:24494
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:UC002FMQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,691,651 - 87,692,552 (+)MPROMDB
RGD ID:6792767
Promoter ID:HG_KWN:24495
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:UC010CII.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,694,481 - 87,694,981 (+)MPROMDB
RGD ID:6792766
Promoter ID:HG_KWN:24496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat
Transcripts:UC002FMR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361687,695,531 - 87,696,282 (+)MPROMDB
RGD ID:7233145
Promoter ID:EPDNEW_H22318
Type:initiation region
Name:ACSF3_1
Description:acyl-CoA synthetase family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22319  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,093,878 - 89,093,938EPDNEW
RGD ID:7233149
Promoter ID:EPDNEW_H22319
Type:initiation region
Name:ACSF3_2
Description:acyl-CoA synthetase family member 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22318  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,098,701 - 89,098,761EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27288 AgrOrtholog
COSMIC ACSF3 COSMIC
Ensembl Genes ENSG00000176715 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000317447 ENTREZGENE
  ENST00000317447.9 UniProtKB/Swiss-Prot
  ENST00000378345 ENTREZGENE
  ENST00000378345.8 UniProtKB/TrEMBL
  ENST00000406948 ENTREZGENE
  ENST00000406948.7 UniProtKB/Swiss-Prot
  ENST00000535176.1 UniProtKB/TrEMBL
  ENST00000537116 ENTREZGENE
  ENST00000537290.5 UniProtKB/TrEMBL
  ENST00000537895.5 UniProtKB/TrEMBL
  ENST00000538340.5 UniProtKB/TrEMBL
  ENST00000540697.5 UniProtKB/TrEMBL
  ENST00000541755.2 UniProtKB/TrEMBL
  ENST00000542688.5 UniProtKB/TrEMBL
  ENST00000543676.1 UniProtKB/TrEMBL
  ENST00000544543.5 UniProtKB/TrEMBL
  ENST00000614302 ENTREZGENE
  ENST00000614302.5 UniProtKB/Swiss-Prot
  ENST00000649953.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.300.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.980 UniProtKB/TrEMBL
GTEx ENSG00000176715 GTEx
HGNC ID HGNC:27288 ENTREZGENE
Human Proteome Map ACSF3 Human Proteome Map
InterPro AMP-bd_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-bd_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synth/Lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synthh-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:197322 UniProtKB/Swiss-Prot
NCBI Gene 197322 ENTREZGENE
OMIM 614245 OMIM
PANTHER ACYL-COA SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FATTY ACID COA SYNTHETASE FAMILY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LONG-CHAIN-FATTY-ACID--COA LIGASE UniProtKB/TrEMBL
  NONRIBOSOMAL PEPTIDE SYNTHASE PES1 (EUROFUNG)-RELATED UniProtKB/TrEMBL
Pfam AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162375375 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Acetyl-CoA synthetase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ISK9 ENTREZGENE, UniProtKB/TrEMBL
  A8K4J8 ENTREZGENE
  ACSF3_HUMAN UniProtKB/Swiss-Prot
  C9JQL6 ENTREZGENE
  F5GX20_HUMAN UniProtKB/TrEMBL
  F5H2G6_HUMAN UniProtKB/TrEMBL
  F5H362_HUMAN UniProtKB/TrEMBL
  F5H3B2_HUMAN UniProtKB/TrEMBL
  F5H5A1 ENTREZGENE, UniProtKB/TrEMBL
  F5H755_HUMAN UniProtKB/TrEMBL
  H0YGC7_HUMAN UniProtKB/TrEMBL
  H0YGJ0_HUMAN UniProtKB/TrEMBL
  H0YH37_HUMAN UniProtKB/TrEMBL
  H3BTS0_HUMAN UniProtKB/TrEMBL
  Q4G176 ENTREZGENE
  Q6INA0 ENTREZGENE
  Q6P2C7 ENTREZGENE, UniProtKB/TrEMBL
  Q8N2F7 ENTREZGENE
UniProt Secondary A8K4J8 UniProtKB/Swiss-Prot
  C9JQL6 UniProtKB/Swiss-Prot
  Q6INA0 UniProtKB/Swiss-Prot
  Q8N2F7 UniProtKB/Swiss-Prot