GFM1 (G elongation factor mitochondrial 1) - Rat Genome Database

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Gene: GFM1 (G elongation factor mitochondrial 1) Homo sapiens
Analyze
Symbol: GFM1
Name: G elongation factor mitochondrial 1
RGD ID: 1604558
HGNC Page HGNC:13780
Description: Enables GTPase activity and translation elongation factor activity. Involved in mitochondrial translational elongation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COXPD1; EF-Gmt; EFG; EFG1; EFGM; EGF1; elongation factor G 1, mitochondrial; elongation factor G, mitochondrial; elongation factor G1; FLJ12662; FLJ13632; FLJ20773; G elongation factor, mitochondrial 1; G translation elongation factor, mitochondrial; GFM; hEFG1; mEF-G 1; mitochondrial elongation factor G; mitochondrial elongation factor G1; mtEF-G1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383158,644,527 - 158,695,581 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3158,644,527 - 158,695,581 (+)EnsemblGRCh38hg38GRCh38
GRCh373158,362,316 - 158,413,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363159,845,011 - 159,893,055 (+)NCBINCBI36Build 36hg18NCBI36
Celera3156,784,902 - 156,832,946 (+)NCBICelera
Cytogenetic Map3q25.32NCBI
HuRef3155,758,163 - 155,806,206 (+)NCBIHuRef
CHM1_13158,325,291 - 158,373,337 (+)NCBICHM1_1
T2T-CHM13v2.03161,418,448 - 161,469,504 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2556394   PMID:3169261   PMID:11374907   PMID:11735030   PMID:12477932   PMID:14702039   PMID:15358359   PMID:15489334   PMID:15537906   PMID:16632485   PMID:17160893   PMID:18157088  
PMID:19135240   PMID:19695239   PMID:19716793   PMID:20843780   PMID:20877624   PMID:21873635   PMID:21986555   PMID:22658674   PMID:23798571   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26871637   PMID:26890991   PMID:26972000   PMID:27025967   PMID:27432908   PMID:27499296   PMID:28169297   PMID:28216230   PMID:28514442   PMID:28675297   PMID:29568061  
PMID:30021884   PMID:30425250   PMID:30884312   PMID:30948266   PMID:31056398   PMID:31091453   PMID:31470122   PMID:31536960   PMID:31586073   PMID:31617661   PMID:31680380   PMID:31871319  
PMID:31995728   PMID:32176628   PMID:32513696   PMID:32602580   PMID:32628020   PMID:32737313   PMID:32807901   PMID:32877691   PMID:33210482   PMID:33845483   PMID:33961781   PMID:34079125  
PMID:34373451   PMID:34672954   PMID:34800366   PMID:34901782   PMID:35007762   PMID:35008187   PMID:35032548   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35703069  
PMID:35831314   PMID:35944360   PMID:36215168   PMID:36225252   PMID:36424410   PMID:37314216   PMID:37317656   PMID:37827155   PMID:38569033   PMID:39147351  


Genomics

Comparative Map Data
GFM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383158,644,527 - 158,695,581 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3158,644,527 - 158,695,581 (+)EnsemblGRCh38hg38GRCh38
GRCh373158,362,316 - 158,413,370 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363159,845,011 - 159,893,055 (+)NCBINCBI36Build 36hg18NCBI36
Celera3156,784,902 - 156,832,946 (+)NCBICelera
Cytogenetic Map3q25.32NCBI
HuRef3155,758,163 - 155,806,206 (+)NCBIHuRef
CHM1_13158,325,291 - 158,373,337 (+)NCBICHM1_1
T2T-CHM13v2.03161,418,448 - 161,469,504 (+)NCBIT2T-CHM13v2.0
Gfm1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39367,337,448 - 67,382,401 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl367,337,429 - 67,383,862 (+)EnsemblGRCm39 Ensembl
GRCm38367,430,115 - 67,475,068 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl367,430,096 - 67,476,529 (+)EnsemblGRCm38mm10GRCm38
MGSCv37367,234,037 - 67,278,990 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36367,518,044 - 67,562,997 (+)NCBIMGSCv36mm8
Celera367,556,209 - 67,601,175 (+)NCBICelera
Cytogenetic Map3E1NCBI
cM Map330.96NCBI
Gfm1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82154,010,601 - 154,055,523 (+)NCBIGRCr8
mRatBN7.22151,700,573 - 151,745,477 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2151,700,564 - 151,745,471 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2158,817,201 - 158,861,971 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02156,867,699 - 156,912,472 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02151,500,450 - 151,545,218 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02164,601,575 - 164,646,478 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2164,601,586 - 164,646,439 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02183,950,902 - 183,995,881 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42157,283,046 - 157,327,969 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12157,233,008 - 157,277,932 (+)NCBI
Celera2146,070,110 - 146,114,990 (+)NCBICelera
Cytogenetic Map2q32NCBI
Gfm1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554489,390,576 - 9,433,404 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554489,390,576 - 9,432,919 (+)NCBIChiLan1.0ChiLan1.0
GFM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22156,583,431 - 156,634,795 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13156,588,163 - 156,639,527 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03155,670,432 - 155,721,404 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13163,721,473 - 163,769,454 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3163,721,479 - 163,769,454 (+)Ensemblpanpan1.1panPan2
GFM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12351,940,307 - 51,983,196 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2351,940,071 - 51,982,636 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2351,749,477 - 51,792,992 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02352,580,688 - 52,624,233 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2352,580,668 - 52,624,232 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12352,161,073 - 52,204,519 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02352,213,985 - 52,257,486 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02352,499,435 - 52,542,963 (+)NCBIUU_Cfam_GSD_1.0
Gfm1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560284,441,526 - 84,489,184 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365195,244,591 - 5,292,439 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365195,245,202 - 5,292,426 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GFM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1398,411,179 - 98,458,525 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11398,411,132 - 98,456,496 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213106,704,037 - 106,749,956 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GFM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11532,153,650 - 32,198,393 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1532,150,607 - 32,198,396 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660414,716,825 - 4,761,563 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gfm1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473036,354,255 - 36,400,195 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473036,354,334 - 36,400,999 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GFM1
736 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024996.7(GFM1):c.1424del (p.Arg475fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459761]|See cases [RCV003156151]|not provided [RCV002616147] Chr3:158665380 [GRCh38]
Chr3:158383169 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) single nucleotide variant Combined oxidative phosphorylation deficiency [RCV000851197]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000023564]|See cases [RCV003156063]|not provided [RCV000800330] Chr3:158652154 [GRCh38]
Chr3:158369943 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004377]|not provided [RCV000657878] Chr3:158646896 [GRCh38]
Chr3:158364685 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004378]|not provided [RCV001207728] Chr3:158645686 [GRCh38]
Chr3:158363475 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000004379] Chr3:158665443 [GRCh38]
Chr3:158383232 [GRCh37]
Chr3:3q25.32		 pathogenic
GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3 copy number gain See cases [RCV000051537] Chr3:158614801..159429760 [GRCh38]
Chr3:158332590..159147549 [GRCh37]
Chr3:159815284..160630243 [NCBI36]
Chr3:3q25.32-25.33		 uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1 copy number loss See cases [RCV000053997] Chr3:158652224..159036456 [GRCh38]
Chr3:158370013..158754245 [GRCh37]
Chr3:159852707..160236939 [NCBI36]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1083+6T>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000390538]|not provided [RCV000676469]|not specified [RCV000125222] Chr3:158654637 [GRCh38]
Chr3:158372426 [GRCh37]
Chr3:3q25.32		 benign|uncertain significance
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000361226]|not provided [RCV000964843]|not specified [RCV000125223] Chr3:158645674 [GRCh38]
Chr3:158363463 [GRCh37]
Chr3:3q25.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.1601+9G>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000400146]|not provided [RCV000676470]|not specified [RCV000125224] Chr3:158666395 [GRCh38]
Chr3:158384184 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000999807]|not provided [RCV000224568]|not specified [RCV000125225] Chr3:158646851 [GRCh38]
Chr3:158364640 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000368039]|not provided [RCV000224632]|not specified [RCV000125226] Chr3:158646943 [GRCh38]
Chr3:158364732 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000999813]|not provided [RCV000676471]|not specified [RCV000125227] Chr3:158690243 [GRCh38]
Chr3:158408032 [GRCh37]
Chr3:3q25.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024996.7(GFM1):c.2071-17A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002483248]|not provided [RCV002055557]|not specified [RCV000125228] Chr3:158691122 [GRCh38]
Chr3:158408911 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.-38C>T single nucleotide variant GFM1-related disorder [RCV003925243]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000389427]|not specified [RCV000125229] Chr3:158644597 [GRCh38]
Chr3:158362386 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.-31A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000336135]|not provided [RCV004717014]|not specified [RCV000125230] Chr3:158644604 [GRCh38]
Chr3:158362393 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.-11C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000396594]|not provided [RCV004715711]|not specified [RCV000125231] Chr3:158644624 [GRCh38]
Chr3:158362413 [GRCh37]
Chr3:3q25.32		 benign|likely benign
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_024996.7(GFM1):c.*226C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000262965]|not provided [RCV001613134] Chr3:158691693 [GRCh38]
Chr3:158409482 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.*483_*484insTA insertion Combined oxidative phosphorylation deficiency [RCV000264012] Chr3:158691950..158691951 [GRCh38]
Chr3:158409739..158409740 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001273487]|not provided [RCV000196656] Chr3:158644637 [GRCh38]
Chr3:158362426 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.273del (p.Met92fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002500612]|not provided [RCV000200452] Chr3:158646202 [GRCh38]
Chr3:158363991 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1583C>T (p.Thr528Ile) single nucleotide variant not provided [RCV000200666] Chr3:158666368 [GRCh38]
Chr3:158384157 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1596del (p.Val533fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468887]|not provided [RCV000196892] Chr3:158666381 [GRCh38]
Chr3:158384170 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1457C>T (p.Thr486Ile) single nucleotide variant Inborn genetic diseases [RCV002517219]|not provided [RCV000488200] Chr3:158665413 [GRCh38]
Chr3:158383202 [GRCh37]
Chr3:3q25.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000763507]|not provided [RCV000197077] Chr3:158690264 [GRCh38]
Chr3:158408053 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147220]|not provided [RCV000946773]|not specified [RCV000197193] Chr3:158659047 [GRCh38]
Chr3:158376836 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) single nucleotide variant GFM1-related disorder [RCV003927840]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148120]|not provided [RCV000883125]|not specified [RCV000197206] Chr3:158666378 [GRCh38]
Chr3:158384167 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.690-5C>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001001208]|not provided [RCV000415998]|not specified [RCV000197431] Chr3:158652091 [GRCh38]
Chr3:158369880 [GRCh37]
Chr3:3q25.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.1114C>T (p.Arg372Cys) single nucleotide variant Inborn genetic diseases [RCV002517220]|not provided [RCV000197604] Chr3:158658952 [GRCh38]
Chr3:158376741 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.238A>G (p.Lys80Glu) single nucleotide variant not provided [RCV000197651] Chr3:158646168 [GRCh38]
Chr3:158363957 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.235-14G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000307563]|not provided [RCV002054327]|not specified [RCV000198372] Chr3:158646151 [GRCh38]
Chr3:158363940 [GRCh37]
Chr3:3q25.32		 benign|uncertain significance
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000764473]|not provided [RCV000198516] Chr3:158649090 [GRCh38]
Chr3:158366879 [GRCh37]
Chr3:3q25.32		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000995549]|not provided [RCV000198570] Chr3:158652106 [GRCh38]
Chr3:158369895 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.2232del (p.Gly747fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833146]|not provided [RCV000198766] Chr3:158691442 [GRCh38]
Chr3:158409231 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.368-18A>G single nucleotide variant not provided [RCV002054328]|not specified [RCV000199107] Chr3:158646725 [GRCh38]
Chr3:158364514 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000398210]|not provided [RCV000915754]|not specified [RCV000195533] Chr3:158644711 [GRCh38]
Chr3:158362500 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.731C>T (p.Ala244Val) single nucleotide variant not provided [RCV002122403] Chr3:158652137 [GRCh38]
Chr3:158369926 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.960A>C (p.Pro320=) single nucleotide variant GFM1-related disorder [RCV004748652]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000316489]|not provided [RCV000910628]|not specified [RCV000195750] Chr3:158653429 [GRCh38]
Chr3:158371218 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser) single nucleotide variant not provided [RCV000195753]|not specified [RCV004700590] Chr3:158662673 [GRCh38]
Chr3:158380462 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001835722]|not provided [RCV000199524] Chr3:158691376 [GRCh38]
Chr3:158409165 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.16G>C (p.Ala6Pro) single nucleotide variant not provided [RCV000196171] Chr3:158644650 [GRCh38]
Chr3:158362439 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) single nucleotide variant GFM1-related disorder [RCV003417713]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003330568]|not provided [RCV000199744] Chr3:158649156 [GRCh38]
Chr3:158366945 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1181G>A (p.Arg394Gln) single nucleotide variant not provided [RCV000200029] Chr3:158659019 [GRCh38]
Chr3:158376808 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001825499]|not provided [RCV000757328] Chr3:158665385 [GRCh38]
Chr3:158383174 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1377C>T (p.Asn459=) single nucleotide variant not provided [RCV000943989]|not specified [RCV000605197] Chr3:158662681 [GRCh38]
Chr3:158380470 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000625929] Chr3:158646770 [GRCh38]
Chr3:158364559 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.897C>T (p.Ser299=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000280136]|not provided [RCV001453939] Chr3:158653366 [GRCh38]
Chr3:158371155 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000281525]|not provided [RCV000952513]|not specified [RCV000429176] Chr3:158654580 [GRCh38]
Chr3:158372369 [GRCh37]
Chr3:3q25.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.18T>C (p.Ala6=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000282348]|not provided [RCV000676466]|not specified [RCV001795958] Chr3:158644652 [GRCh38]
Chr3:158362441 [GRCh37]
Chr3:3q25.32		 benign
GRCh37/hg19 3q25.32(chr3:158361184-158410354)x3 copy number gain See cases [RCV000240197] Chr3:158361184..158410354 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000275898]|not provided [RCV000913641] Chr3:158691401 [GRCh38]
Chr3:158409190 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987347]|not provided [RCV000676468]|not specified [RCV001795959] Chr3:158649111 [GRCh38]
Chr3:158649111..158649112 [GRCh38]
Chr3:158366900 [GRCh37]
Chr3:158366900..158366901 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.987C>A (p.Leu329=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000376033]|not provided [RCV000933080] Chr3:158653456 [GRCh38]
Chr3:158371245 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.234+12C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000398325]|not provided [RCV002057851] Chr3:158645793 [GRCh38]
Chr3:158363582 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.*454_*456del deletion Combined oxidative phosphorylation deficiency [RCV000377206] Chr3:158691919..158691921 [GRCh38]
Chr3:158409708..158409710 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.*6C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000317038]|not provided [RCV000676472]|not specified [RCV001795960] Chr3:158691473 [GRCh38]
Chr3:158409262 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.*578C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000378782] Chr3:158692045 [GRCh38]
Chr3:158409834 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) single nucleotide variant GFM1-related disorder [RCV003950210]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000337390]|not provided [RCV000943185] Chr3:158644690 [GRCh38]
Chr3:158362479 [GRCh37]
Chr3:3q25.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.1324-15T>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000286924]|not provided [RCV002057852]|not specified [RCV000424127] Chr3:158662613 [GRCh38]
Chr3:158380402 [GRCh37]
Chr3:3q25.32		 benign|likely benign|uncertain significance
NM_024996.7(GFM1):c.*691T>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000288969]|not provided [RCV004716038] Chr3:158692158 [GRCh38]
Chr3:158409947 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.*766G>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000290294] Chr3:158692233 [GRCh38]
Chr3:158410022 [GRCh37]
Chr3:3q25.32		 benign|uncertain significance
NM_024996.7(GFM1):c.1083+3A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000341073]|Inborn genetic diseases [RCV002523249]|not provided [RCV001636960] Chr3:158654634 [GRCh38]
Chr3:158372423 [GRCh37]
Chr3:3q25.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.*731C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000384430] Chr3:158692198 [GRCh38]
Chr3:158409987 [GRCh37]
Chr3:3q25.32		 benign|uncertain significance
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) single nucleotide variant GFM1-related disorder [RCV003957777]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000341858]|not provided [RCV000911472] Chr3:158662647 [GRCh38]
Chr3:158380436 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.373G>A (p.Val125Met) single nucleotide variant GFM1-related disorder [RCV004748738]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000362292]|not provided [RCV000942298] Chr3:158646748 [GRCh38]
Chr3:158364537 [GRCh37]
Chr3:3q25.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.*713C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000343936] Chr3:158692180 [GRCh38]
Chr3:158409969 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000366352]|not provided [RCV002520101] Chr3:158665362 [GRCh38]
Chr3:158383151 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.702A>G (p.Arg234=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000388686] Chr3:158652108 [GRCh38]
Chr3:158369897 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.-33C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000295077]|not provided [RCV001672626] Chr3:158644602 [GRCh38]
Chr3:158362391 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.*950C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000349969] Chr3:158692417 [GRCh38]
Chr3:158410206 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*1004T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000394550] Chr3:158692471 [GRCh38]
Chr3:158410260 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000312996]|not provided [RCV001521349] Chr3:158684590 [GRCh38]
Chr3:158402379 [GRCh37]
Chr3:3q25.32		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.-73C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000331237]|not provided [RCV004710937] Chr3:158644562 [GRCh38]
Chr3:158362351 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) single nucleotide variant Combined oxidative phosphorylation deficiency [RCV000395721]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001526738] Chr3:158665340 [GRCh38]
Chr3:158383129 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.424del (p.Val142fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000272222]|not provided [RCV000814936] Chr3:158646799 [GRCh38]
Chr3:158364588 [GRCh37]
Chr3:3q25.32		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser) single nucleotide variant not provided [RCV000489339] Chr3:158652182 [GRCh38]
Chr3:158369971 [GRCh37]
Chr3:3q25.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024996.7(GFM1):c.1323+72A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543946]|not provided [RCV001619959] Chr3:158661047 [GRCh38]
Chr3:158378836 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.*245A>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000317976] Chr3:158691712 [GRCh38]
Chr3:158409501 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000306955] Chr3:158665341 [GRCh38]
Chr3:158383130 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*119G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000353040] Chr3:158691586 [GRCh38]
Chr3:158409375 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*559T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000323880] Chr3:158692026 [GRCh38]
Chr3:158409815 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.81+5C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000301848] Chr3:158644720 [GRCh38]
Chr3:158362509 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.829dup (p.Ser277fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779394]|not provided [RCV000416186] Chr3:158652232..158652233 [GRCh38]
Chr3:158370021..158370022 [GRCh37]
Chr3:3q25.32		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3q25.32(chr3:158060351-158665225)x3 copy number gain See cases [RCV000449404] Chr3:158060351..158665225 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
GRCh37/hg19 3q25.32(chr3:158405216-158776705)x1 copy number loss See cases [RCV000446683] Chr3:158405216..158776705 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1764+11A>T single nucleotide variant GFM1-related disorder [RCV003922707]|not provided [RCV002061398]|not specified [RCV000434519] Chr3:158682168 [GRCh38]
Chr3:158399957 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.1909+13C>T single nucleotide variant not provided [RCV002061399]|not specified [RCV000445199] Chr3:158684681 [GRCh38]
Chr3:158402470 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148119]|not provided [RCV000897890] Chr3:158665450 [GRCh38]
Chr3:158383239 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.597G>A (p.Ala199=) single nucleotide variant not provided [RCV001439230]|not specified [RCV000434679] Chr3:158649065 [GRCh38]
Chr3:158366854 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+13C>G single nucleotide variant not provided [RCV002064932]|not specified [RCV000418274] Chr3:158684681 [GRCh38]
Chr3:158402470 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.2059C>T (p.Leu687=) single nucleotide variant GFM1-related disorder [RCV003970232]|not provided [RCV000881004] Chr3:158690312 [GRCh38]
Chr3:158408101 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.234+17G>A single nucleotide variant not provided [RCV002525444]|not specified [RCV000439110] Chr3:158645798 [GRCh38]
Chr3:158363587 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1626A>G (p.Gln542=) single nucleotide variant not provided [RCV002522390]|not specified [RCV000443950] Chr3:158682019 [GRCh38]
Chr3:158399808 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.744C>T (p.Asp248=) single nucleotide variant not provided [RCV001412253] Chr3:158652150 [GRCh38]
Chr3:158369939 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.-25C>T single nucleotide variant not specified [RCV000441164] Chr3:158644610 [GRCh38]
Chr3:158362399 [GRCh37]
Chr3:3q25.32		 likely benign
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003470574]|not provided [RCV000483794] Chr3:158645709..158645710 [GRCh38]
Chr3:158363498..158363499 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.2125-11dup duplication not provided [RCV003736791]|not specified [RCV000487169] Chr3:158691317..158691318 [GRCh38]
Chr3:158409106..158409107 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.2125-11del deletion not specified [RCV000600494] Chr3:158691318 [GRCh38]
Chr3:158409107 [GRCh37]
Chr3:3q25.32		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_024996.7(GFM1):c.2071-20T>C single nucleotide variant not provided [RCV002065262]|not specified [RCV000609575] Chr3:158691119 [GRCh38]
Chr3:158408908 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.689+908G>A single nucleotide variant Combined oxidative phosphorylation deficiency [RCV000851196]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465353]|not provided [RCV001377165] Chr3:158650065 [GRCh38]
Chr3:158367854 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic|likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003486088] Chr3:158665352 [GRCh38]
Chr3:158383141 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro) single nucleotide variant not provided [RCV000658473] Chr3:158646830 [GRCh38]
Chr3:158364619 [GRCh37]
Chr3:3q25.32		 likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3 copy number gain not provided [RCV000682320] Chr3:157991657..159073531 [GRCh37]
Chr3:3q25.32-25.33		 uncertain significance
NM_024996.7(GFM1):c.193C>A (p.Arg65=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148014]|not provided [RCV000676467] Chr3:158645740 [GRCh38]
Chr3:158363529 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.1083+82T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543945]|not provided [RCV001713121] Chr3:158654713 [GRCh38]
Chr3:158372502 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002682] Chr3:158666331 [GRCh38]
Chr3:158384120 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002684] Chr3:158666356 [GRCh38]
Chr3:158384145 [GRCh37]
Chr3:3q25.32		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q25.32(chr3:157957741-158531803)x3 copy number gain not provided [RCV000742903] Chr3:157957741..158531803 [GRCh37]
Chr3:3q25.32		 benign
GRCh37/hg19 3q25.32(chr3:158342928-158411681)x1 copy number loss not provided [RCV000742908] Chr3:158342928..158411681 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147221]|not provided [RCV000941272] Chr3:158660957 [GRCh38]
Chr3:158378746 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.81+84C>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543941]|not provided [RCV001713120] Chr3:158644799 [GRCh38]
Chr3:158362588 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.689+891C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543942]|not provided [RCV001694070] Chr3:158650048 [GRCh38]
Chr3:158367837 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.690-87A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543943]|not provided [RCV001647392] Chr3:158652009 [GRCh38]
Chr3:158369798 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1083+57C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543944]|not provided [RCV001638146] Chr3:158654688 [GRCh38]
Chr3:158372477 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1519-25A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543948]|not provided [RCV001655852] Chr3:158666279 [GRCh38]
Chr3:158384068 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.*9A>G single nucleotide variant GFM1-related disorder [RCV003931165]|not provided [RCV001534982] Chr3:158691476 [GRCh38]
Chr3:158409265 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-199G>A single nucleotide variant not provided [RCV001709274] Chr3:158646544 [GRCh38]
Chr3:158364333 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002683]|not provided [RCV002549188] Chr3:158645647 [GRCh38]
Chr3:158363436 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002681] Chr3:158658983..158658994 [GRCh38]
Chr3:158376772..158376783 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1519-211T>G single nucleotide variant not provided [RCV001550465] Chr3:158666093 [GRCh38]
Chr3:158383882 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987349]|not provided [RCV002550600] Chr3:158684581 [GRCh38]
Chr3:158402370 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.1910-8del deletion not provided [RCV001577167] Chr3:158690142 [GRCh38]
Chr3:158407931 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1601+90T>G single nucleotide variant not provided [RCV001565625] Chr3:158666476 [GRCh38]
Chr3:158384265 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+283dup duplication not provided [RCV001551459] Chr3:158644980..158644981 [GRCh38]
Chr3:158362769..158362770 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1083+8G>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272461]|not provided [RCV000944842] Chr3:158654639 [GRCh38]
Chr3:158372428 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.2016T>C (p.His672=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001825858]|not provided [RCV000921294] Chr3:158690269 [GRCh38]
Chr3:158408058 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) single nucleotide variant GFM1-related disorder [RCV003923302]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272458]|not provided [RCV000923394] Chr3:158645767 [GRCh38]
Chr3:158363556 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.1116C>T (p.Arg372=) single nucleotide variant not provided [RCV000983205] Chr3:158658954 [GRCh38]
Chr3:158376743 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.294A>G (p.Arg98=) single nucleotide variant not provided [RCV000981069] Chr3:158646224 [GRCh38]
Chr3:158364013 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272464]|not provided [RCV000904804] Chr3:158662672 [GRCh38]
Chr3:158380461 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1110T>C (p.Tyr370=) single nucleotide variant not provided [RCV000928367] Chr3:158658948 [GRCh38]
Chr3:158376737 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.843A>G (p.Leu281=) single nucleotide variant not provided [RCV000983730] Chr3:158653312 [GRCh38]
Chr3:158371101 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.406G>A (p.Val136Ile) single nucleotide variant not provided [RCV000883126] Chr3:158669097 [GRCh38]
Chr3:158386886 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462600]|not provided [RCV001067025] Chr3:158649129 [GRCh38]
Chr3:158366918 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462551]|not provided [RCV001052419] Chr3:158660906..158660907 [GRCh38]
Chr3:158378695..158378696 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003387961]|not provided [RCV001067859] Chr3:158690261 [GRCh38]
Chr3:158408050 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1348G>A (p.Val450Ile) single nucleotide variant not provided [RCV003312593] Chr3:158662652 [GRCh38]
Chr3:158380441 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.521dup (p.Asn174fs) duplication not provided [RCV000819934] Chr3:158646894..158646895 [GRCh38]
Chr3:158364683..158364684 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1518+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779395] Chr3:158665475 [GRCh38]
Chr3:158383264 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1910-1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000779396] Chr3:158690162 [GRCh38]
Chr3:158407951 [GRCh37]
Chr3:3q25.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_020169.4(LXN):c.143G>A (p.Arg48Lys) single nucleotide variant not provided [RCV000951070] Chr3:158671006 [GRCh38]
Chr3:158388795 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.837A>G (p.Leu279=) single nucleotide variant not provided [RCV000930538] Chr3:158652243 [GRCh38]
Chr3:158370032 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1242C>T (p.Ala414=) single nucleotide variant not provided [RCV000928089] Chr3:158660894 [GRCh38]
Chr3:158378683 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1683A>G (p.Pro561=) single nucleotide variant not provided [RCV000901572] Chr3:158682076 [GRCh38]
Chr3:158399865 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1656A>G (p.Val552=) single nucleotide variant not provided [RCV000980888] Chr3:158682049 [GRCh38]
Chr3:158399838 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) single nucleotide variant GFM1-related disorder [RCV003960371]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272459]|not provided [RCV000918367] Chr3:158649135 [GRCh38]
Chr3:158366924 [GRCh37]
Chr3:3q25.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.1704A>G (p.Glu568=) single nucleotide variant not provided [RCV000930149] Chr3:158682097 [GRCh38]
Chr3:158399886 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.51C>T (p.Ala17=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272457]|not provided [RCV000932460] Chr3:158644685 [GRCh38]
Chr3:158362474 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV000941271] Chr3:158652213 [GRCh38]
Chr3:158370002 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1323+83A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543947]|not provided [RCV000830746] Chr3:158661058 [GRCh38]
Chr3:158378847 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.539del (p.Gly180fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003232990]|not provided [RCV000798894] Chr3:158646912 [GRCh38]
Chr3:158364701 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1519-211T>C single nucleotide variant not provided [RCV000828850] Chr3:158666093 [GRCh38]
Chr3:158383882 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1601+38A>G single nucleotide variant not provided [RCV000838508] Chr3:158666424 [GRCh38]
Chr3:158384213 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000987348] Chr3:158684540 [GRCh38]
Chr3:158402329 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.54del (p.Ala19fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV000826110]|not provided [RCV002538243] Chr3:158644684 [GRCh38]
Chr3:158362473 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.367+223C>T single nucleotide variant not provided [RCV000844192] Chr3:158646520 [GRCh38]
Chr3:158364309 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.401_404dup (p.Arg136fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004569574]|not provided [RCV000801094] Chr3:158646775..158646776 [GRCh38]
Chr3:158364564..158364565 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.720del (p.Glu241fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001273488]|not provided [RCV000809691] Chr3:158652126 [GRCh38]
Chr3:158369915 [GRCh37]
Chr3:3q25.32		 pathogenic
GRCh37/hg19 3q25.32(chr3:158405216-158776705)x1 copy number loss not provided [RCV000849133] Chr3:158405216..158776705 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003467367]|not provided [RCV000798054] Chr3:158645740 [GRCh38]
Chr3:158363529 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.840+108C>G single nucleotide variant not provided [RCV000833404] Chr3:158652354 [GRCh38]
Chr3:158370143 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147219] Chr3:158658956 [GRCh38]
Chr3:158376745 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*803T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147304] Chr3:158692270 [GRCh38]
Chr3:158410059 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.689+611A>G single nucleotide variant not provided [RCV000828564] Chr3:158649768 [GRCh38]
Chr3:158367557 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.998+150G>A single nucleotide variant not provided [RCV000828848] Chr3:158653617 [GRCh38]
Chr3:158371406 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148122]|Inborn genetic diseases [RCV002557175]|not provided [RCV002559421] Chr3:158690201 [GRCh38]
Chr3:158407990 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.5(GFM1):c.-386G>T single nucleotide variant not provided [RCV000828840] Chr3:158644249 [GRCh38]
Chr3:158362038 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148121] Chr3:158684611 [GRCh38]
Chr3:158402400 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.291_292del (p.Gly99fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461170]|not provided [RCV000807566] Chr3:158646220..158646221 [GRCh38]
Chr3:158364009..158364010 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1722C>T (p.Phe574=) single nucleotide variant not provided [RCV000976800] Chr3:158682115 [GRCh38]
Chr3:158399904 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.192A>G (p.Glu64=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832207]|not provided [RCV000960840] Chr3:158645739 [GRCh38]
Chr3:158363528 [GRCh37]
Chr3:3q25.32		 likely benign
NC_000003.12:g.(?_158681985)_(158691477_?)del deletion not provided [RCV000809294] Chr3:158681985..158691477 [GRCh38]
Chr3:158399774..158409266 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.-85C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147126] Chr3:158644550 [GRCh38]
Chr3:158362339 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*1033A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147305] Chr3:158692500 [GRCh38]
Chr3:158410289 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q25.32(chr3:157542717-158388665)x3 copy number gain not provided [RCV000847182] Chr3:157542717..158388665 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3 copy number gain not provided [RCV000848889] Chr3:158149940..158802473 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001195913] Chr3:158649075 [GRCh38]
Chr3:158366864 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*635A>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145363] Chr3:158692102 [GRCh38]
Chr3:158409891 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.997_998+2del deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833837]|not provided [RCV001209160] Chr3:158653466..158653469 [GRCh38]
Chr3:158371255..158371258 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1765-2_1765-1del deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001833935]|not provided [RCV001223407] Chr3:158684522..158684523 [GRCh38]
Chr3:158402311..158402312 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836211]|not provided [RCV001241465] Chr3:158659018 [GRCh38]
Chr3:158376807 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1601+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462703]|not provided [RCV001210116] Chr3:158666387 [GRCh38]
Chr3:158384176 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.-66C>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001147127] Chr3:158644569 [GRCh38]
Chr3:158362358 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001199013] Chr3:158653350 [GRCh38]
Chr3:158371139 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1519-33A>T single nucleotide variant not provided [RCV001550808] Chr3:158666271 [GRCh38]
Chr3:158384060 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+203G>A single nucleotide variant not provided [RCV001555345] Chr3:158659262 [GRCh38]
Chr3:158377051 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-40G>A single nucleotide variant not provided [RCV001583869] Chr3:158652056 [GRCh38]
Chr3:158369845 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.235-85G>C single nucleotide variant not provided [RCV001572216] Chr3:158646080 [GRCh38]
Chr3:158363869 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-177G>A single nucleotide variant not provided [RCV001562453] Chr3:158646566 [GRCh38]
Chr3:158364355 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.689+1211A>C single nucleotide variant not provided [RCV001696570] Chr3:158650368 [GRCh38]
Chr3:158368157 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.689+1184A>G single nucleotide variant not provided [RCV001581607] Chr3:158650341 [GRCh38]
Chr3:158368130 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+41A>G single nucleotide variant not provided [RCV001587721] Chr3:158684709 [GRCh38]
Chr3:158402498 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1065C>T (p.Gly355=) single nucleotide variant not provided [RCV001570541] Chr3:158654613 [GRCh38]
Chr3:158372402 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+232A>C single nucleotide variant not provided [RCV001565897] Chr3:158684900 [GRCh38]
Chr3:158402689 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832761]|Inborn genetic diseases [RCV002568379]|not provided [RCV001558686] Chr3:158660908 [GRCh38]
Chr3:158378697 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1380+221T>A single nucleotide variant not provided [RCV001647859] Chr3:158662905 [GRCh38]
Chr3:158380694 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.498C>T (p.Asn166=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836054]|not provided [RCV000983429] Chr3:158646873 [GRCh38]
Chr3:158364662 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) single nucleotide variant GFM1-related disorder [RCV003968054]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272460]|not provided [RCV000886511] Chr3:158652194 [GRCh38]
Chr3:158369983 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_020169.4(LXN):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV000886512] Chr3:158672441 [GRCh38]
Chr3:158390230 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.81+7G>C single nucleotide variant not provided [RCV000979465] Chr3:158644722 [GRCh38]
Chr3:158362511 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1830C>T (p.Val610=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001832275]|not provided [RCV000980112] Chr3:158684589 [GRCh38]
Chr3:158402378 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.641G>A (p.Arg214His) single nucleotide variant not provided [RCV000888145] Chr3:158666674 [GRCh38]
Chr3:158384463 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272463]|not provided [RCV000917135] Chr3:158660960 [GRCh38]
Chr3:158378749 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1362A>G (p.Ala454=) single nucleotide variant not provided [RCV000978748] Chr3:158662666 [GRCh38]
Chr3:158380455 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2163G>A (p.Gln721=) single nucleotide variant not provided [RCV000928670] Chr3:158691374 [GRCh38]
Chr3:158409163 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2232T>C (p.Val744=) single nucleotide variant not provided [RCV000932821] Chr3:158691443 [GRCh38]
Chr3:158409232 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.46G>A (p.Val16Met) single nucleotide variant not provided [RCV000957567] Chr3:158672433 [GRCh38]
Chr3:158390222 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) single nucleotide variant GFM1-related disorder [RCV003950391]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001272462]|not provided [RCV000891379] Chr3:158658940 [GRCh38]
Chr3:158376729 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.501G>A (p.Lys167=) single nucleotide variant not provided [RCV000891476] Chr3:158669002 [GRCh38]
Chr3:158386791 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1926A>G (p.Thr642=) single nucleotide variant not provided [RCV000934162] Chr3:158690179 [GRCh38]
Chr3:158407968 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-321A>G single nucleotide variant not provided [RCV001556710] Chr3:158660553 [GRCh38]
Chr3:158378342 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-39C>T single nucleotide variant not provided [RCV001541258] Chr3:158665298 [GRCh38]
Chr3:158383087 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-262del deletion not provided [RCV001718482] Chr3:158651825 [GRCh38]
Chr3:158369614 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.82-198G>A single nucleotide variant not provided [RCV001577980] Chr3:158645431 [GRCh38]
Chr3:158363220 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.344A>G (p.Asn115Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001563841]|Inborn genetic diseases [RCV002568428]|not provided [RCV002072149] Chr3:158646274 [GRCh38]
Chr3:158364063 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.368-34T>A single nucleotide variant not provided [RCV001553401] Chr3:158646709 [GRCh38]
Chr3:158364498 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-118A>G single nucleotide variant not provided [RCV001555318] Chr3:158645511 [GRCh38]
Chr3:158363300 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+323T>C single nucleotide variant not provided [RCV001594310] Chr3:158659382 [GRCh38]
Chr3:158377171 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-26dup duplication not provided [RCV001684587] Chr3:158691304..158691305 [GRCh38]
Chr3:158409093..158409094 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.999-221A>T single nucleotide variant not provided [RCV001687456] Chr3:158654326 [GRCh38]
Chr3:158372115 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.81+282_81+283del deletion not provided [RCV001720847] Chr3:158644981..158644982 [GRCh38]
Chr3:158362770..158362771 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.841-224C>T single nucleotide variant not provided [RCV001652853] Chr3:158653086 [GRCh38]
Chr3:158370875 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.81+283del deletion not provided [RCV001676920] Chr3:158644981 [GRCh38]
Chr3:158362770 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1084-299A>T single nucleotide variant not provided [RCV001591585] Chr3:158658623 [GRCh38]
Chr3:158376412 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+281_81+283del deletion not provided [RCV001710206] Chr3:158644981..158644983 [GRCh38]
Chr3:158362770..158362772 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002678] Chr3:158653427 [GRCh38]
Chr3:158371216 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002679]|not provided [RCV004720762]|not specified [RCV004689951] Chr3:158690175 [GRCh38]
Chr3:158407964 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149555] Chr3:158649064 [GRCh38]
Chr3:158366853 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001089485]|not specified [RCV004702633] Chr3:158653421 [GRCh38]
Chr3:158371210 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.*572A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145362] Chr3:158692039 [GRCh38]
Chr3:158409828 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.748del (p.Arg250fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001580712] Chr3:158652153 [GRCh38]
Chr3:158369942 [GRCh37]
Chr3:3q25.32		 likely pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3 copy number gain See cases [RCV001194528] Chr3:156812581..160154747 [GRCh37]
Chr3:3q25.31-25.33		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_024996.7(GFM1):c.2125-32_2125-30del deletion not provided [RCV001588356] Chr3:158691302..158691304 [GRCh38]
Chr3:158409091..158409093 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002676]|not provided [RCV001384808] Chr3:158660946..158660949 [GRCh38]
Chr3:158378735..158378738 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1404del (p.Gly469fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002677]|not provided [RCV001869432] Chr3:158665357 [GRCh38]
Chr3:158383146 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.234+187A>G single nucleotide variant not provided [RCV001649244] Chr3:158645968 [GRCh38]
Chr3:158363757 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1909+131C>T single nucleotide variant not provided [RCV001580833] Chr3:158684799 [GRCh38]
Chr3:158402588 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+22A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001543940]|not provided [RCV001655851] Chr3:158644737 [GRCh38]
Chr3:158362526 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1765-298A>G single nucleotide variant not provided [RCV001671826] Chr3:158684226 [GRCh38]
Chr3:158402015 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.840+317T>C single nucleotide variant not provided [RCV001581501] Chr3:158652563 [GRCh38]
Chr3:158370352 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001827557]|not provided [RCV001665161] Chr3:158691354 [GRCh38]
Chr3:158409143 [GRCh37]
Chr3:3q25.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001002680]|not provided [RCV003769390]|not specified [RCV004702570] Chr3:158646178 [GRCh38]
Chr3:158363967 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.1602-17dup duplication not provided [RCV001650768] Chr3:158681968..158681969 [GRCh38]
Chr3:158399757..158399758 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.486dup (p.Lys163fs) duplication not provided [RCV001211855] Chr3:158646860..158646861 [GRCh38]
Chr3:158364649..158364650 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004570433]|not provided [RCV001204850] Chr3:158646254 [GRCh38]
Chr3:158364043 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_020169.4(LXN):c.570+1G>C single nucleotide variant See cases [RCV001197651] Chr3:158667011 [GRCh38]
Chr3:158384800 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*116C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149673]|not provided [RCV001569157] Chr3:158691583 [GRCh38]
Chr3:158409372 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.*164C>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001149674] Chr3:158691631 [GRCh38]
Chr3:158409420 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145270] Chr3:158652107 [GRCh38]
Chr3:158369896 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.*539C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145361] Chr3:158692006 [GRCh38]
Chr3:158409795 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.735_747delinsTTAATTAATTAG (p.Ala246_His249delinsTer) indel not provided [RCV001247772] Chr3:158652141..158652153 [GRCh38]
Chr3:158369930..158369942 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003462686]|not provided [RCV001204932] Chr3:158646176..158646177 [GRCh38]
Chr3:158363965..158363966 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) single nucleotide variant Developmental regression [RCV001090179]|not provided [RCV002555936]|not specified [RCV004526801] Chr3:158652155 [GRCh38]
Chr3:158369944 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.2070+11T>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001148123]|not provided [RCV001673019] Chr3:158690334 [GRCh38]
Chr3:158408123 [GRCh37]
Chr3:3q25.32		 benign|likely benign
NM_024996.7(GFM1):c.*429C>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001145360] Chr3:158691896 [GRCh38]
Chr3:158409685 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280044]|not provided [RCV003481048] Chr3:158646818 [GRCh38]
Chr3:158364607 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329387] Chr3:158646783 [GRCh38]
Chr3:158364572 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.81+10C>T single nucleotide variant not provided [RCV001397212] Chr3:158644725 [GRCh38]
Chr3:158362514 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1466_1467del (p.Lys489fs) deletion not provided [RCV001382468] Chr3:158665421..158665422 [GRCh38]
Chr3:158383210..158383211 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.2055T>C (p.Phe685=) single nucleotide variant not provided [RCV001413778] Chr3:158690308 [GRCh38]
Chr3:158408097 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.996G>A (p.Glu332=) single nucleotide variant not provided [RCV001433935] Chr3:158653465 [GRCh38]
Chr3:158371254 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001449604]|not provided [RCV001865913] Chr3:158684582 [GRCh38]
Chr3:158402371 [GRCh37]
Chr3:3q25.32		 pathogenic|uncertain significance
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280045] Chr3:158649084 [GRCh38]
Chr3:158366873 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1936C>T (p.Leu646Phe) single nucleotide variant not provided [RCV001354979] Chr3:158690189 [GRCh38]
Chr3:158407978 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280047]|not provided [RCV002542941] Chr3:158659036 [GRCh38]
Chr3:158376825 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1221+20G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329385]|not provided [RCV003727981] Chr3:158659079 [GRCh38]
Chr3:158376868 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.825G>A (p.Ser275=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280046] Chr3:158652231 [GRCh38]
Chr3:158370020 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001280043] Chr3:158645768 [GRCh38]
Chr3:158363557 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.409G>A (p.Val137Met) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001449659] Chr3:158646784 [GRCh38]
Chr3:158364573 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.705T>C (p.Tyr235=) single nucleotide variant not provided [RCV001395108] Chr3:158652111 [GRCh38]
Chr3:158369900 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.738C>A (p.Ala246=) single nucleotide variant not provided [RCV001414114] Chr3:158652144 [GRCh38]
Chr3:158369933 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001329386] Chr3:158662628 [GRCh38]
Chr3:158380417 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.54C>A (p.Pro18=) single nucleotide variant not provided [RCV001495151] Chr3:158644688 [GRCh38]
Chr3:158362477 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003463027]|not provided [RCV001389333] Chr3:158658928 [GRCh38]
Chr3:158376717 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1188A>G (p.Gln396=) single nucleotide variant not provided [RCV001453582] Chr3:158659026 [GRCh38]
Chr3:158376815 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1893A>G (p.Glu631=) single nucleotide variant not provided [RCV001487128] Chr3:158684652 [GRCh38]
Chr3:158402441 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1782C>T (p.Cys594=) single nucleotide variant GFM1-related disorder [RCV003965956]|not provided [RCV001475138] Chr3:158684541 [GRCh38]
Chr3:158402330 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1473A>G (p.Thr491=) single nucleotide variant not provided [RCV001399353] Chr3:158665429 [GRCh38]
Chr3:158383218 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1818G>A (p.Gly606=) single nucleotide variant not provided [RCV001465651] Chr3:158684577 [GRCh38]
Chr3:158402366 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1686G>A (p.Glu562=) single nucleotide variant not provided [RCV001496388] Chr3:158682079 [GRCh38]
Chr3:158399868 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.540C>T (p.Gly180=) single nucleotide variant not provided [RCV001441608] Chr3:158646915 [GRCh38]
Chr3:158364704 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2061G>C (p.Leu687=) single nucleotide variant not provided [RCV001480179] Chr3:158690314 [GRCh38]
Chr3:158408103 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2178C>T (p.Ser726=) single nucleotide variant not provided [RCV001471711] Chr3:158691389 [GRCh38]
Chr3:158409178 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1035C>T (p.Ser345=) single nucleotide variant not provided [RCV001489057] Chr3:158654583 [GRCh38]
Chr3:158372372 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1152C>A (p.Ile384=) single nucleotide variant not provided [RCV001403439] Chr3:158658990 [GRCh38]
Chr3:158376779 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.792T>C (p.Leu264=) single nucleotide variant not provided [RCV001486867] Chr3:158652198 [GRCh38]
Chr3:158369987 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.279A>G (p.Glu93=) single nucleotide variant not provided [RCV001481138] Chr3:158646209 [GRCh38]
Chr3:158363998 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.234+1G>T single nucleotide variant not provided [RCV001376884] Chr3:158645782 [GRCh38]
Chr3:158363571 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1536T>C (p.Tyr512=) single nucleotide variant not provided [RCV001470423] Chr3:158666321 [GRCh38]
Chr3:158384110 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.873A>G (p.Ser291=) single nucleotide variant not provided [RCV001480744] Chr3:158653342 [GRCh38]
Chr3:158371131 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1311C>T (p.Ser437=) single nucleotide variant not provided [RCV001463594] Chr3:158660963 [GRCh38]
Chr3:158378752 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1350C>T (p.Val450=) single nucleotide variant not provided [RCV001485969] Chr3:158662654 [GRCh38]
Chr3:158380443 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.572+9C>A single nucleotide variant not provided [RCV001472408] Chr3:158646956 [GRCh38]
Chr3:158364745 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1371T>C (p.Pro457=) single nucleotide variant not provided [RCV001486231] Chr3:158662675 [GRCh38]
Chr3:158380464 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.504G>A (p.Pro168=) single nucleotide variant not provided [RCV001472584] Chr3:158646879 [GRCh38]
Chr3:158364668 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.426C>T (p.Val142=) single nucleotide variant not provided [RCV001493692] Chr3:158646801 [GRCh38]
Chr3:158364590 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2139C>T (p.Tyr713=) single nucleotide variant not provided [RCV001404300] Chr3:158691350 [GRCh38]
Chr3:158409139 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1161A>G (p.Thr387=) single nucleotide variant not provided [RCV001429908] Chr3:158658999 [GRCh38]
Chr3:158376788 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.612C>T (p.Pro204=) single nucleotide variant not provided [RCV001406692] Chr3:158649080 [GRCh38]
Chr3:158366869 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.324C>T (p.Tyr108=) single nucleotide variant not provided [RCV001412023] Chr3:158646254 [GRCh38]
Chr3:158364043 [GRCh37]
Chr3:3q25.32		 likely benign
NC_000003.11:g.(?_158362414)_(158409266_?)del deletion not provided [RCV001382185] Chr3:158362414..158409266 [GRCh37]
Chr3:3q25.32		 pathogenic
NC_000003.11:g.(?_158380407)_(158384185_?)del deletion not provided [RCV001382186] Chr3:158380407..158384185 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.465C>T (p.Thr155=) single nucleotide variant not provided [RCV001443507] Chr3:158646840 [GRCh38]
Chr3:158364629 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.168T>C (p.Asp56=) single nucleotide variant not provided [RCV001417337] Chr3:158645715 [GRCh38]
Chr3:158363504 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1434C>T (p.Pro478=) single nucleotide variant not provided [RCV001428010] Chr3:158665390 [GRCh38]
Chr3:158383179 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-2A>T single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001826130]|not provided [RCV001377756] Chr3:158690161 [GRCh38]
Chr3:158407950 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.999-1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001836383]|not provided [RCV001377804] Chr3:158654546 [GRCh38]
Chr3:158372335 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.960A>G (p.Pro320=) single nucleotide variant not provided [RCV001418529] Chr3:158653429 [GRCh38]
Chr3:158371218 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1143T>C (p.Gly381=) single nucleotide variant not provided [RCV001400802] Chr3:158658981 [GRCh38]
Chr3:158376770 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.363T>C (p.Thr121=) single nucleotide variant not provided [RCV001446328] Chr3:158646293 [GRCh38]
Chr3:158364082 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1422A>G (p.Thr474=) single nucleotide variant not provided [RCV001417630] Chr3:158665378 [GRCh38]
Chr3:158383167 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.21A>G (p.Ala7=) single nucleotide variant not provided [RCV001409823] Chr3:158644655 [GRCh38]
Chr3:158362444 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.102A>C (p.Arg34=) single nucleotide variant not provided [RCV001410097] Chr3:158645649 [GRCh38]
Chr3:158363438 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1595_1596del (p.Pro532fs) deletion not provided [RCV001380497] Chr3:158666380..158666381 [GRCh38]
Chr3:158384169..158384170 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1299C>T (p.Asp433=) single nucleotide variant not provided [RCV001402707] Chr3:158660951 [GRCh38]
Chr3:158378740 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1346del (p.Pro449fs) deletion not provided [RCV001380852] Chr3:158662649 [GRCh38]
Chr3:158380438 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.54C>T (p.Pro18=) single nucleotide variant not provided [RCV001430658] Chr3:158644688 [GRCh38]
Chr3:158362477 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.840+10T>C single nucleotide variant not provided [RCV001407679] Chr3:158652256 [GRCh38]
Chr3:158370045 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-7T>C single nucleotide variant not provided [RCV001444576] Chr3:158652089 [GRCh38]
Chr3:158369878 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1263T>C (p.Phe421=) single nucleotide variant not provided [RCV001393349] Chr3:158660915 [GRCh38]
Chr3:158378704 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831352]|not provided [RCV001378369] Chr3:158644716 [GRCh38]
Chr3:158362505 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.573-1G>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831371]|not provided [RCV001379654] Chr3:158649040 [GRCh38]
Chr3:158366829 [GRCh37]
Chr3:3q25.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024996.7(GFM1):c.1329A>G (p.Ser443=) single nucleotide variant not provided [RCV001431564] Chr3:158662633 [GRCh38]
Chr3:158380422 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-9C>G single nucleotide variant not provided [RCV001431618] Chr3:158665328 [GRCh38]
Chr3:158383117 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1518+8del deletion not provided [RCV001406080] Chr3:158665481 [GRCh38]
Chr3:158383270 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2166A>G (p.Pro722=) single nucleotide variant not provided [RCV001445163] Chr3:158691377 [GRCh38]
Chr3:158409166 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+8C>T single nucleotide variant not provided [RCV001442918] Chr3:158659067 [GRCh38]
Chr3:158376856 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2012G>A (p.Arg671His) single nucleotide variant not provided [RCV001378703] Chr3:158690265 [GRCh38]
Chr3:158408054 [GRCh37]
Chr3:3q25.32		 likely pathogenic|likely benign
NM_024996.7(GFM1):c.1765-94C>T single nucleotide variant not provided [RCV001575761] Chr3:158684430 [GRCh38]
Chr3:158402219 [GRCh37]
Chr3:3q25.32		 likely benign
NC_000003.11:g.(?_158399774)_(158402467_?)del deletion not provided [RCV001382187] Chr3:158399774..158402467 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.66C>G (p.Gly22=) single nucleotide variant not provided [RCV001505984] Chr3:158644700 [GRCh38]
Chr3:158362489 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2170T>C (p.Leu724=) single nucleotide variant not provided [RCV001469047] Chr3:158691381 [GRCh38]
Chr3:158409170 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324-267G>A single nucleotide variant not provided [RCV001688426] Chr3:158662361 [GRCh38]
Chr3:158380150 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.690-96T>A single nucleotide variant not provided [RCV001675032] Chr3:158652000 [GRCh38]
Chr3:158369789 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1383C>T (p.Asn461=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001563842]|not provided [RCV001480040] Chr3:158665339 [GRCh38]
Chr3:158383128 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.689+200A>G single nucleotide variant not provided [RCV001608919] Chr3:158649357 [GRCh38]
Chr3:158367146 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1290A>G (p.Thr430=) single nucleotide variant not provided [RCV001497458] Chr3:158660942 [GRCh38]
Chr3:158378731 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+222T>C single nucleotide variant not provided [RCV001587965] Chr3:158659281 [GRCh38]
Chr3:158377070 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-5C>T single nucleotide variant not provided [RCV001453575] Chr3:158691331 [GRCh38]
Chr3:158409120 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+302dup duplication not provided [RCV001678979] Chr3:158653757..158653758 [GRCh38]
Chr3:158371546..158371547 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1881C>T (p.Ile627=) single nucleotide variant not provided [RCV001468192] Chr3:158684640 [GRCh38]
Chr3:158402429 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1005A>G (p.Ser335=) single nucleotide variant not provided [RCV001426857] Chr3:158654553 [GRCh38]
Chr3:158372342 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-3del deletion not provided [RCV001518467] Chr3:158660865 [GRCh38]
Chr3:158378654 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.998+7C>T single nucleotide variant not provided [RCV001469541] Chr3:158653474 [GRCh38]
Chr3:158371263 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1851C>T (p.His617=) single nucleotide variant GFM1-related disorder [RCV003973309]|not provided [RCV001450412] Chr3:158684610 [GRCh38]
Chr3:158402399 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-2A>C single nucleotide variant not provided [RCV001377847] Chr3:158645627 [GRCh38]
Chr3:158363416 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.368-6A>T single nucleotide variant not provided [RCV001473437] Chr3:158646737 [GRCh38]
Chr3:158364526 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.552C>T (p.Ala184=) single nucleotide variant not provided [RCV001455339] Chr3:158646927 [GRCh38]
Chr3:158364716 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.572+9C>T single nucleotide variant not provided [RCV001468613] Chr3:158646956 [GRCh38]
Chr3:158364745 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.39G>A (p.Gly13=) single nucleotide variant not provided [RCV001464314] Chr3:158644673 [GRCh38]
Chr3:158362462 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.861T>C (p.Thr287=) single nucleotide variant not provided [RCV001482082] Chr3:158653330 [GRCh38]
Chr3:158371119 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001831380]|not provided [RCV001381644] Chr3:158666361 [GRCh38]
Chr3:158384150 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1101A>G (p.Gln367=) single nucleotide variant not provided [RCV001483140] Chr3:158658939 [GRCh38]
Chr3:158376728 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.687T>C (p.Phe229=) single nucleotide variant not provided [RCV001451732] Chr3:158649155 [GRCh38]
Chr3:158366944 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.928T>C (p.Leu310=) single nucleotide variant not provided [RCV001502597] Chr3:158653397 [GRCh38]
Chr3:158371186 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-6A>C single nucleotide variant not provided [RCV001465981] Chr3:158690157 [GRCh38]
Chr3:158407946 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1665C>A (p.Val555=) single nucleotide variant not provided [RCV001417627] Chr3:158682058 [GRCh38]
Chr3:158399847 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.141A>C (p.Arg47=) single nucleotide variant not provided [RCV001417766] Chr3:158645688 [GRCh38]
Chr3:158363477 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1074T>C (p.Phe358=) single nucleotide variant not provided [RCV001432518] Chr3:158654622 [GRCh38]
Chr3:158372411 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1179A>T (p.Val393=) single nucleotide variant not provided [RCV001467891] Chr3:158659017 [GRCh38]
Chr3:158376806 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1857T>A (p.Val619=) single nucleotide variant not provided [RCV001432628] Chr3:158684616 [GRCh38]
Chr3:158402405 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.735G>A (p.Ala245=) single nucleotide variant not provided [RCV001419959] Chr3:158652141 [GRCh38]
Chr3:158369930 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1629A>T (p.Ser543=) single nucleotide variant not provided [RCV001418724] Chr3:158682022 [GRCh38]
Chr3:158399811 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1326G>A (p.Glu442=) single nucleotide variant not provided [RCV001489456] Chr3:158662630 [GRCh38]
Chr3:158380419 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.580C>T (p.Leu194=) single nucleotide variant not provided [RCV001456613] Chr3:158649048 [GRCh38]
Chr3:158366837 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1600C>T (p.Pro534Ser) single nucleotide variant not provided [RCV003108278] Chr3:158666385 [GRCh38]
Chr3:158384174 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV001783359] Chr3:158665466 [GRCh38]
Chr3:158383255 [GRCh37]
Chr3:3q25.32		 pathogenic
Single allele duplication not provided [RCV001784120] Chr3:158305597..158428584 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.265A>G (p.Met89Val) single nucleotide variant not provided [RCV001752011] Chr3:158646195 [GRCh38]
Chr3:158363984 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1814C>T (p.Ser605Phe) single nucleotide variant not provided [RCV001752012] Chr3:158684573 [GRCh38]
Chr3:158402362 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
NM_024996.7(GFM1):c.1764+2T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003989093] Chr3:158682159 [GRCh38]
Chr3:158399948 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1380+1G>T single nucleotide variant not provided [RCV002024883] Chr3:158662685 [GRCh38]
Chr3:158380474 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1167_1168insTT (p.Arg390fs) insertion not provided [RCV001891750] Chr3:158659005..158659006 [GRCh38]
Chr3:158376794..158376795 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) microsatellite Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471167]|See cases [RCV002252739]|not provided [RCV001970149] Chr3:158666313..158666314 [GRCh38]
Chr3:158384102..158384103 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.890del (p.Leu297fs) deletion not provided [RCV001863844] Chr3:158653355 [GRCh38]
Chr3:158371144 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1874_1875del (p.Ser625fs) microsatellite not provided [RCV001914793] Chr3:158684630..158684631 [GRCh38]
Chr3:158402419..158402420 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1765-3C>T single nucleotide variant not provided [RCV001946515] Chr3:158684521 [GRCh38]
Chr3:158402310 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.97T>C (p.Cys33Arg) single nucleotide variant not provided [RCV001965306] Chr3:158645644 [GRCh38]
Chr3:158363433 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553) copy number gain not specified [RCV002053381] Chr3:156768935..160158553 [GRCh37]
Chr3:3q25.31-25.33		 uncertain significance
GRCh37/hg19 3q25.32(chr3:158060351-158665225) copy number gain not specified [RCV002053383] Chr3:158060351..158665225 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
NM_024996.7(GFM1):c.491G>A (p.Arg164His) single nucleotide variant not provided [RCV001986779] Chr3:158646866 [GRCh38]
Chr3:158364655 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.67T>A (p.Trp23Arg) single nucleotide variant not provided [RCV001913584] Chr3:158644701 [GRCh38]
Chr3:158362490 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.910A>G (p.Lys304Glu) single nucleotide variant not provided [RCV002044178] Chr3:158653379 [GRCh38]
Chr3:158371168 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1172del (p.Lys391fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471067]|not provided [RCV001926961] Chr3:158659008 [GRCh38]
Chr3:158376797 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.2064del (p.Leu687_Tyr688insTer) deletion not provided [RCV001946822] Chr3:158690317 [GRCh38]
Chr3:158408106 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1544C>T (p.Pro515Leu) single nucleotide variant Inborn genetic diseases [RCV003289392]|not provided [RCV002021112] Chr3:158666329 [GRCh38]
Chr3:158384118 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1792C>T (p.Pro598Ser) single nucleotide variant not provided [RCV002020476] Chr3:158684551 [GRCh38]
Chr3:158402340 [GRCh37]
Chr3:3q25.32		 uncertain significance
NC_000003.12:g.158684526del deletion not provided [RCV001947230] Chr3:158684523 [GRCh38]
Chr3:158402312 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.612del (p.Met205fs) deletion not provided [RCV001999737] Chr3:158649078 [GRCh38]
Chr3:158366867 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464305]|not provided [RCV001942340] Chr3:158646907 [GRCh38]
Chr3:158364696 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1468G>A (p.Glu490Lys) single nucleotide variant not provided [RCV001963402] Chr3:158665424 [GRCh38]
Chr3:158383213 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464329]|not provided [RCV001963289] Chr3:158659024 [GRCh38]
Chr3:158376813 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.690-16A>G single nucleotide variant not provided [RCV001944300] Chr3:158652080 [GRCh38]
Chr3:158369869 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.367+3G>A single nucleotide variant not provided [RCV001887469] Chr3:158646300 [GRCh38]
Chr3:158364089 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471141]|not provided [RCV002000104] Chr3:158684641 [GRCh38]
Chr3:158402430 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464295]|not provided [RCV001941657] Chr3:158644703 [GRCh38]
Chr3:158362492 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471142]|not provided [RCV002000204] Chr3:158653319 [GRCh38]
Chr3:158371108 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.769del (p.Val257fs) deletion not provided [RCV002000207] Chr3:158652175 [GRCh38]
Chr3:158369964 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1878del (p.Phe626fs) deletion not provided [RCV001990059] Chr3:158684637 [GRCh38]
Chr3:158402426 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.690_693del deletion GFM1-related disorder [RCV003416518]|Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002506920]|not provided [RCV001932580] Chr3:158652094..158652097 [GRCh38]
Chr3:158369883..158369886 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.689+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464159]|not provided [RCV002029942] Chr3:158649158 [GRCh38]
Chr3:158366947 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003146413]|not provided [RCV001953530] Chr3:158645636..158645646 [GRCh38]
Chr3:158363425..158363435 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.136dup (p.Ile46fs) duplication not provided [RCV001934484] Chr3:158645677..158645678 [GRCh38]
Chr3:158363466..158363467 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.649del (p.Ile218fs) deletion not provided [RCV001865113] Chr3:158649117 [GRCh38]
Chr3:158366906 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004571752]|not provided [RCV001951507] Chr3:158682035 [GRCh38]
Chr3:158399824 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.2125-6C>A single nucleotide variant not provided [RCV001955602] Chr3:158691330 [GRCh38]
Chr3:158409119 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.1765-2A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003471216]|not provided [RCV001973042] Chr3:158684522 [GRCh38]
Chr3:158402311 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1814C>G (p.Ser605Cys) single nucleotide variant not provided [RCV001996608] Chr3:158684573 [GRCh38]
Chr3:158402362 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.841-520_878del deletion not provided [RCV001973353] Chr3:158652787..158653344 [GRCh38]
Chr3:158370576..158371133 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.335A>G (p.Lys112Arg) single nucleotide variant not provided [RCV001936531] Chr3:158646265 [GRCh38]
Chr3:158364054 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.626G>A (p.Gly209Asp) single nucleotide variant not provided [RCV002028944] Chr3:158649094 [GRCh38]
Chr3:158366883 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1217del (p.Met406fs) deletion not provided [RCV001900022] Chr3:158659055 [GRCh38]
Chr3:158376844 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1415G>A (p.Arg472Lys) single nucleotide variant not provided [RCV001901406] Chr3:158665371 [GRCh38]
Chr3:158383160 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1015dup (p.Thr339fs) duplication not provided [RCV001972741] Chr3:158654559..158654560 [GRCh38]
Chr3:158372348..158372349 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.62T>C (p.Leu21Pro) single nucleotide variant not provided [RCV001951780] Chr3:158644696 [GRCh38]
Chr3:158362485 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1096_1099del (p.Gly366fs) deletion not provided [RCV001907173] Chr3:158658934..158658937 [GRCh38]
Chr3:158376723..158376726 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1834C>T (p.Gln612Ter) single nucleotide variant not provided [RCV001939353] Chr3:158684593 [GRCh38]
Chr3:158402382 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.898G>A (p.Ala300Thr) single nucleotide variant not provided [RCV001959726] Chr3:158653367 [GRCh38]
Chr3:158371156 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro) single nucleotide variant not provided [RCV001867300]|not specified [RCV003331220] Chr3:158659037 [GRCh38]
Chr3:158376826 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.928T>G (p.Leu310Val) single nucleotide variant not provided [RCV001956014] Chr3:158653397 [GRCh38]
Chr3:158371186 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.999-8A>C single nucleotide variant not provided [RCV002085588] Chr3:158654539 [GRCh38]
Chr3:158372328 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.186A>G (p.Leu62=) single nucleotide variant not provided [RCV002089464] Chr3:158645733 [GRCh38]
Chr3:158363522 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.235-7T>C single nucleotide variant not provided [RCV002205549] Chr3:158646158 [GRCh38]
Chr3:158363947 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.234+19T>A single nucleotide variant not provided [RCV002091628] Chr3:158645800 [GRCh38]
Chr3:158363589 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.930A>G (p.Leu310=) single nucleotide variant not provided [RCV002168064] Chr3:158653399 [GRCh38]
Chr3:158371188 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2151T>C (p.Tyr717=) single nucleotide variant not provided [RCV002130312] Chr3:158691362 [GRCh38]
Chr3:158409151 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.420T>C (p.Gly140=) single nucleotide variant not provided [RCV002168403] Chr3:158646795 [GRCh38]
Chr3:158364584 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.988A>G (p.Asn330Asp) single nucleotide variant not provided [RCV002105636] Chr3:158653457 [GRCh38]
Chr3:158371246 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+8T>G single nucleotide variant not provided [RCV002189515] Chr3:158653475 [GRCh38]
Chr3:158371264 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.87T>C (p.Asn29=) single nucleotide variant not provided [RCV002167393] Chr3:158645634 [GRCh38]
Chr3:158363423 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2121A>C (p.Thr707=) single nucleotide variant not provided [RCV002092324] Chr3:158691189 [GRCh38]
Chr3:158408978 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1617T>C (p.His539=) single nucleotide variant not provided [RCV002192250] Chr3:158682010 [GRCh38]
Chr3:158399799 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.471T>G (p.Thr157=) single nucleotide variant not provided [RCV002196107] Chr3:158646846 [GRCh38]
Chr3:158364635 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1584C>G (p.Thr528=) single nucleotide variant not provided [RCV002133951] Chr3:158666369 [GRCh38]
Chr3:158384158 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.762T>A (p.Ile254=) single nucleotide variant not provided [RCV002133956] Chr3:158652168 [GRCh38]
Chr3:158369957 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1168A>C (p.Arg390=) single nucleotide variant not provided [RCV002211835] Chr3:158659006 [GRCh38]
Chr3:158376795 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1872C>A (p.Ile624=) single nucleotide variant not provided [RCV002215019] Chr3:158684631 [GRCh38]
Chr3:158402420 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1518+7A>G single nucleotide variant not provided [RCV002196358] Chr3:158665481 [GRCh38]
Chr3:158383270 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.720T>A (p.Ala240=) single nucleotide variant not provided [RCV002131016] Chr3:158652126 [GRCh38]
Chr3:158369915 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-4C>T single nucleotide variant not provided [RCV002192202] Chr3:158690159 [GRCh38]
Chr3:158407948 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1078C>T (p.Leu360=) single nucleotide variant not provided [RCV002113849] Chr3:158654626 [GRCh38]
Chr3:158372415 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.406A>C (p.Arg136=) single nucleotide variant not provided [RCV002150999] Chr3:158646781 [GRCh38]
Chr3:158364570 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-12C>A single nucleotide variant not provided [RCV002095430] Chr3:158646731 [GRCh38]
Chr3:158364520 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.171T>C (p.Ser57=) single nucleotide variant GFM1-related disorder [RCV003893206]|not provided [RCV002213263] Chr3:158645718 [GRCh38]
Chr3:158363507 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1083+7T>G single nucleotide variant not provided [RCV002164925] Chr3:158654638 [GRCh38]
Chr3:158372427 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.36G>C (p.Leu12=) single nucleotide variant not provided [RCV002131106] Chr3:158644670 [GRCh38]
Chr3:158362459 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2070+7A>G single nucleotide variant not provided [RCV002195265] Chr3:158690330 [GRCh38]
Chr3:158408119 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.724T>C (p.Leu242=) single nucleotide variant not provided [RCV002197082] Chr3:158652130 [GRCh38]
Chr3:158369919 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-6del deletion not provided [RCV002138823] Chr3:158690156 [GRCh38]
Chr3:158407945 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2040A>G (p.Gly680=) single nucleotide variant not provided [RCV002141793] Chr3:158690293 [GRCh38]
Chr3:158408082 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1083+8G>A single nucleotide variant not provided [RCV002158784] Chr3:158654639 [GRCh38]
Chr3:158372428 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1935T>A (p.Ile645=) single nucleotide variant not provided [RCV002140307] Chr3:158690188 [GRCh38]
Chr3:158407977 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.12G>C (p.Leu4=) single nucleotide variant not provided [RCV002101653] Chr3:158644646 [GRCh38]
Chr3:158362435 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-3dup duplication not provided [RCV002154062] Chr3:158660864..158660865 [GRCh38]
Chr3:158378653..158378654 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1140G>A (p.Lys380=) single nucleotide variant not provided [RCV002163318] Chr3:158658978 [GRCh38]
Chr3:158376767 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-6dup duplication not provided [RCV002119691] Chr3:158690155..158690156 [GRCh38]
Chr3:158407944..158407945 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1707T>C (p.Phe569=) single nucleotide variant not provided [RCV002158193] Chr3:158682100 [GRCh38]
Chr3:158399889 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2129A>G (p.Lys710Arg) single nucleotide variant not provided [RCV002135887] Chr3:158691340 [GRCh38]
Chr3:158409129 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1524G>A (p.Leu508=) single nucleotide variant not provided [RCV002081778] Chr3:158666309 [GRCh38]
Chr3:158384098 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1917A>C (p.Ala639=) single nucleotide variant not provided [RCV002122497] Chr3:158690170 [GRCh38]
Chr3:158407959 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2226T>C (p.Leu742=) single nucleotide variant not provided [RCV002140380] Chr3:158691437 [GRCh38]
Chr3:158409226 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2079A>G (p.Leu693=) single nucleotide variant not provided [RCV002099277] Chr3:158691147 [GRCh38]
Chr3:158408936 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-13_368-12delinsAA indel not provided [RCV002138645] Chr3:158646730..158646731 [GRCh38]
Chr3:158364519..158364520 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.933T>C (p.Asp311=) single nucleotide variant not provided [RCV002202101] Chr3:158653402 [GRCh38]
Chr3:158371191 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-17A>G single nucleotide variant not provided [RCV002100547] Chr3:158652079 [GRCh38]
Chr3:158369868 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+7T>C single nucleotide variant not provided [RCV002200391] Chr3:158646304 [GRCh38]
Chr3:158364093 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2160T>C (p.Tyr720=) single nucleotide variant not provided [RCV002141255] Chr3:158691371 [GRCh38]
Chr3:158409160 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.732G>A (p.Ala244=) single nucleotide variant not provided [RCV002178196] Chr3:158652138 [GRCh38]
Chr3:158369927 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2058A>G (p.Thr686=) single nucleotide variant not provided [RCV002157741] Chr3:158690311 [GRCh38]
Chr3:158408100 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1998A>T (p.Ala666=) single nucleotide variant not provided [RCV002218731] Chr3:158690251 [GRCh38]
Chr3:158408040 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.757C>T (p.Leu253=) single nucleotide variant not provided [RCV002103878] Chr3:158652163 [GRCh38]
Chr3:158369952 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.981T>A (p.Ala327=) single nucleotide variant not provided [RCV002198916] Chr3:158653450 [GRCh38]
Chr3:158371239 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2073C>T (p.Val691=) single nucleotide variant not provided [RCV002156850] Chr3:158691141 [GRCh38]
Chr3:158408930 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.699T>C (p.Val233=) single nucleotide variant not provided [RCV002158659] Chr3:158652105 [GRCh38]
Chr3:158369894 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+10G>A single nucleotide variant not provided [RCV002141819] Chr3:158684678 [GRCh38]
Chr3:158402467 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-8A>G single nucleotide variant not provided [RCV002141829] Chr3:158658914 [GRCh38]
Chr3:158376703 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-8T>G single nucleotide variant not provided [RCV002204181] Chr3:158660866 [GRCh38]
Chr3:158378655 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1519-6T>C single nucleotide variant not provided [RCV002180433] Chr3:158666298 [GRCh38]
Chr3:158384087 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+3A>G single nucleotide variant not provided [RCV003118187] Chr3:158644718 [GRCh38]
Chr3:158362507 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459779]|not provided [RCV003112759] Chr3:158645661 [GRCh38]
Chr3:158363450 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024996.7(GFM1):c.2034A>G (p.Gln678=) single nucleotide variant not provided [RCV003121796] Chr3:158690287 [GRCh38]
Chr3:158408076 [GRCh37]
Chr3:3q25.32		 likely benign
NC_000003.11:g.(?_158407942)_(158409266_?)del deletion not provided [RCV003122738] Chr3:158407942..158409266 [GRCh37]
Chr3:3q25.32		 pathogenic
NC_000003.11:g.(?_158376701)_(158409266_?)del deletion not provided [RCV003122739] Chr3:158376701..158409266 [GRCh37]
Chr3:3q25.32		 pathogenic
NC_000003.11:g.(?_158362424)_(158409256_?)dup duplication not provided [RCV003122740] Chr3:158362424..158409256 [GRCh37]
Chr3:3q25.32		 uncertain significance
NC_000003.11:g.(?_158399764)_(158409256_?)dup duplication not provided [RCV003122741] Chr3:158399764..158409256 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.754G>A (p.Glu252Lys) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003148198] Chr3:158652160 [GRCh38]
Chr3:158369949 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.72G>C (p.Gln24His) single nucleotide variant not provided [RCV003156519] Chr3:158644706 [GRCh38]
Chr3:158362495 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1213A>G (p.Met405Val) single nucleotide variant Inborn genetic diseases [RCV003239327]|not provided [RCV003156516] Chr3:158659051 [GRCh38]
Chr3:158376840 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003131016] Chr3:158652236 [GRCh38]
Chr3:158370025 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.153C>G (p.Ile51Met) single nucleotide variant not provided [RCV002265387] Chr3:158645700 [GRCh38]
Chr3:158363489 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1484G>C (p.Gly495Ala) single nucleotide variant not provided [RCV002297333] Chr3:158665440 [GRCh38]
Chr3:158383229 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.228G>T (p.Met76Ile) single nucleotide variant not provided [RCV002288093] Chr3:158645775 [GRCh38]
Chr3:158363564 [GRCh37]
Chr3:3q25.32		 uncertain significance
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV002465084] Chr3:158684656 [GRCh38]
Chr3:158402445 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1393A>T (p.Lys465Ter) single nucleotide variant not provided [RCV002681379] Chr3:158665349 [GRCh38]
Chr3:158383138 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003153203] Chr3:158649147 [GRCh38]
Chr3:158366936 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003148553] Chr3:158649043 [GRCh38]
Chr3:158366832 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003233002] Chr3:158691378 [GRCh38]
Chr3:158409167 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.318C>T (p.Ala106=) single nucleotide variant not provided [RCV002726384] Chr3:158646248 [GRCh38]
Chr3:158364037 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1740G>A (p.Lys580=) single nucleotide variant not provided [RCV002858191] Chr3:158682133 [GRCh38]
Chr3:158399922 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1601C>T (p.Pro534Leu) single nucleotide variant not provided [RCV003074295] Chr3:158666386 [GRCh38]
Chr3:158384175 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.998+2T>G single nucleotide variant not provided [RCV002858685] Chr3:158653469 [GRCh38]
Chr3:158371258 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1374T>A (p.Ser458=) single nucleotide variant not provided [RCV002971224] Chr3:158662678 [GRCh38]
Chr3:158380467 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-7C>T single nucleotide variant not provided [RCV002972275] Chr3:158658915 [GRCh38]
Chr3:158376704 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.662G>A (p.Arg221Gln) single nucleotide variant not provided [RCV003075974] Chr3:158649130 [GRCh38]
Chr3:158366919 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.642T>C (p.Ile214=) single nucleotide variant not provided [RCV002858305] Chr3:158649110 [GRCh38]
Chr3:158366899 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1623_1624insG (p.Gln542fs) insertion not provided [RCV003017440] Chr3:158682016..158682017 [GRCh38]
Chr3:158399805..158399806 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.2022A>T (p.Val674=) single nucleotide variant not provided [RCV002863365] Chr3:158690275 [GRCh38]
Chr3:158408064 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1519-16del deletion not provided [RCV002908119] Chr3:158666285 [GRCh38]
Chr3:158384074 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.560T>C (p.Ile187Thr) single nucleotide variant not specified [RCV004152933] Chr3:158667022 [GRCh38]
Chr3:158384811 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_020169.4(LXN):c.52C>G (p.Gln18Glu) single nucleotide variant not specified [RCV004171106] Chr3:158672427 [GRCh38]
Chr3:158390216 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.707G>A (p.Gly236Asp) single nucleotide variant not provided [RCV003073598] Chr3:158652113 [GRCh38]
Chr3:158369902 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.999-4dup duplication not provided [RCV002838875] Chr3:158654539..158654540 [GRCh38]
Chr3:158372328..158372329 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.406A>G (p.Arg136Gly) single nucleotide variant not provided [RCV002996092] Chr3:158646781 [GRCh38]
Chr3:158364570 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1294A>G (p.Thr432Ala) single nucleotide variant not provided [RCV002996462] Chr3:158660946 [GRCh38]
Chr3:158378735 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.817A>G (p.Ile273Val) single nucleotide variant not provided [RCV003013561] Chr3:158652223 [GRCh38]
Chr3:158370012 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.307C>T (p.Gln103Ter) single nucleotide variant not provided [RCV002756445] Chr3:158646237 [GRCh38]
Chr3:158364026 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1305C>A (p.Ala435=) single nucleotide variant not provided [RCV002842561] Chr3:158660957 [GRCh38]
Chr3:158378746 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1201A>G (p.Met401Val) single nucleotide variant Inborn genetic diseases [RCV002779416] Chr3:158659039 [GRCh38]
Chr3:158376828 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1239T>A (p.Tyr413Ter) single nucleotide variant not provided [RCV002996717] Chr3:158660891 [GRCh38]
Chr3:158378680 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.975C>T (p.Asn325=) single nucleotide variant not provided [RCV003034976] Chr3:158653444 [GRCh38]
Chr3:158371233 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.459C>T (p.Cys153=) single nucleotide variant not provided [RCV002996750] Chr3:158646834 [GRCh38]
Chr3:158364623 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.291A>G (p.Gln97=) single nucleotide variant not provided [RCV002863585] Chr3:158646221 [GRCh38]
Chr3:158364010 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.689+8C>T single nucleotide variant not provided [RCV002908073] Chr3:158649165 [GRCh38]
Chr3:158366954 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1380+7G>C single nucleotide variant not provided [RCV002995466] Chr3:158662691 [GRCh38]
Chr3:158380480 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-22_2125-20del deletion not provided [RCV002640582] Chr3:158691314..158691316 [GRCh38]
Chr3:158409103..158409105 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1474_1480del (p.Val492fs) deletion not provided [RCV002913854] Chr3:158665430..158665436 [GRCh38]
Chr3:158383219..158383225 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.2082T>C (p.Asn694=) single nucleotide variant not provided [RCV002846498] Chr3:158691150 [GRCh38]
Chr3:158408939 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.931G>A (p.Asp311Asn) single nucleotide variant not provided [RCV002824408] Chr3:158653400 [GRCh38]
Chr3:158371189 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1043A>T (p.Asp348Val) single nucleotide variant not provided [RCV002640645] Chr3:158654591 [GRCh38]
Chr3:158372380 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.894A>G (p.Gly298=) single nucleotide variant not provided [RCV002786128] Chr3:158653363 [GRCh38]
Chr3:158371152 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-18A>G single nucleotide variant not provided [RCV002785659] Chr3:158652078 [GRCh38]
Chr3:158369867 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.796G>T (p.Glu266Ter) single nucleotide variant not provided [RCV002979277] Chr3:158652202 [GRCh38]
Chr3:158369991 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.435C>T (p.Leu145=) single nucleotide variant not provided [RCV002781563] Chr3:158646810 [GRCh38]
Chr3:158364599 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2142A>C (p.Thr714=) single nucleotide variant not provided [RCV002885045] Chr3:158691353 [GRCh38]
Chr3:158409142 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1037G>A (p.Ser346Asn) single nucleotide variant not provided [RCV002820841] Chr3:158654585 [GRCh38]
Chr3:158372374 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1222-13T>C single nucleotide variant not provided [RCV003100409] Chr3:158660861 [GRCh38]
Chr3:158378650 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1080G>A (p.Leu360=) single nucleotide variant not provided [RCV002796305] Chr3:158654628 [GRCh38]
Chr3:158372417 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1914G>T (p.Leu638Phe) single nucleotide variant not provided [RCV002796836] Chr3:158690167 [GRCh38]
Chr3:158407956 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1236A>G (p.Val412=) single nucleotide variant not provided [RCV003053332] Chr3:158660888 [GRCh38]
Chr3:158378677 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1589del (p.Thr530fs) deletion not provided [RCV002848233] Chr3:158666374 [GRCh38]
Chr3:158384163 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1324-15del deletion not provided [RCV002694934] Chr3:158662610 [GRCh38]
Chr3:158380399 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1046A>G (p.Asn349Ser) single nucleotide variant Inborn genetic diseases [RCV002761930] Chr3:158654594 [GRCh38]
Chr3:158372383 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.980C>G (p.Ala327Gly) single nucleotide variant Inborn genetic diseases [RCV002845093] Chr3:158653449 [GRCh38]
Chr3:158371238 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1909+9G>C single nucleotide variant not provided [RCV002590637] Chr3:158684677 [GRCh38]
Chr3:158402466 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1403A>G (p.Lys468Arg) single nucleotide variant not provided [RCV002912910] Chr3:158665359 [GRCh38]
Chr3:158383148 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1585A>G (p.Ile529Val) single nucleotide variant Inborn genetic diseases [RCV004632128]|not provided [RCV002976587] Chr3:158666370 [GRCh38]
Chr3:158384159 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.82-4del deletion not provided [RCV002571655] Chr3:158645619 [GRCh38]
Chr3:158363408 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.604C>T (p.Gln202Ter) single nucleotide variant not provided [RCV002847382] Chr3:158649072 [GRCh38]
Chr3:158366861 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1406del (p.Gly469fs) deletion not provided [RCV002866766] Chr3:158665361 [GRCh38]
Chr3:158383150 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.840+4A>G single nucleotide variant not provided [RCV002979847] Chr3:158652250 [GRCh38]
Chr3:158370039 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.990T>C (p.Asn330=) single nucleotide variant not provided [RCV002959109] Chr3:158653459 [GRCh38]
Chr3:158371248 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.268G>C (p.Asp90His) single nucleotide variant Inborn genetic diseases [RCV002803410] Chr3:158646198 [GRCh38]
Chr3:158363987 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1539C>T (p.Gly513=) single nucleotide variant not provided [RCV003026143] Chr3:158666324 [GRCh38]
Chr3:158384113 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1831dup (p.Leu611fs) duplication not provided [RCV002933367] Chr3:158684588..158684589 [GRCh38]
Chr3:158402377..158402378 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.2184A>G (p.Gln728=) single nucleotide variant not provided [RCV003085092] Chr3:158691395 [GRCh38]
Chr3:158409184 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+8_1221+9del deletion not provided [RCV003024735] Chr3:158659066..158659067 [GRCh38]
Chr3:158376855..158376856 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1461G>C (p.Glu487Asp) single nucleotide variant not provided [RCV003042248] Chr3:158665417 [GRCh38]
Chr3:158383206 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1091G>A (p.Arg364Gln) single nucleotide variant Inborn genetic diseases [RCV002985257]|not provided [RCV002985256] Chr3:158658929 [GRCh38]
Chr3:158376718 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1384G>A (p.Asp462Asn) single nucleotide variant not provided [RCV003083807] Chr3:158665340 [GRCh38]
Chr3:158383129 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2071-10T>C single nucleotide variant not provided [RCV003056297] Chr3:158691129 [GRCh38]
Chr3:158408918 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.750G>T (p.Arg250=) single nucleotide variant not provided [RCV003023483] Chr3:158652156 [GRCh38]
Chr3:158369945 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1601+17A>C single nucleotide variant not provided [RCV002851955] Chr3:158666403 [GRCh38]
Chr3:158384192 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324G>C (p.Glu442Gln) single nucleotide variant not provided [RCV003083523] Chr3:158662628 [GRCh38]
Chr3:158380417 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1222-7T>G single nucleotide variant not provided [RCV002667838] Chr3:158660867 [GRCh38]
Chr3:158378656 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1738A>G (p.Lys580Glu) single nucleotide variant not provided [RCV002982735] Chr3:158682131 [GRCh38]
Chr3:158399920 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2215A>G (p.Thr739Ala) single nucleotide variant Inborn genetic diseases [RCV002787923] Chr3:158691426 [GRCh38]
Chr3:158409215 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.185T>G (p.Leu62Ter) single nucleotide variant not provided [RCV003084624] Chr3:158645732 [GRCh38]
Chr3:158363521 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.303dup (p.Ile102fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004572498]|not provided [RCV002985505] Chr3:158646232..158646233 [GRCh38]
Chr3:158364021..158364022 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1363A>G (p.Met455Val) single nucleotide variant not provided [RCV002573685] Chr3:158662667 [GRCh38]
Chr3:158380456 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1335T>C (p.His445=) single nucleotide variant not provided [RCV002805270] Chr3:158662639 [GRCh38]
Chr3:158380428 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1126G>T (p.Gly376Ter) single nucleotide variant not provided [RCV002790803] Chr3:158658964 [GRCh38]
Chr3:158376753 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.441T>A (p.Ala147=) single nucleotide variant not provided [RCV003083905] Chr3:158646816 [GRCh38]
Chr3:158364605 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2236A>G (p.Lys746Glu) single nucleotide variant not provided [RCV002627528] Chr3:158691447 [GRCh38]
Chr3:158409236 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.490C>T (p.Arg164Cys) single nucleotide variant not provided [RCV003064618] Chr3:158646865 [GRCh38]
Chr3:158364654 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.715C>T (p.Pro239Ser) single nucleotide variant not provided [RCV002900169] Chr3:158652121 [GRCh38]
Chr3:158369910 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.367+20T>G single nucleotide variant not provided [RCV003031311] Chr3:158646317 [GRCh38]
Chr3:158364106 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1677G>A (p.Leu559=) single nucleotide variant not provided [RCV003044023] Chr3:158682070 [GRCh38]
Chr3:158399859 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2130G>A (p.Lys710=) single nucleotide variant not provided [RCV003049342] Chr3:158691341 [GRCh38]
Chr3:158409130 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-2A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465945]|not provided [RCV003065787] Chr3:158646741 [GRCh38]
Chr3:158364530 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.319A>G (p.Thr107Ala) single nucleotide variant Inborn genetic diseases [RCV002792804] Chr3:158646249 [GRCh38]
Chr3:158364038 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2238A>G (p.Lys746=) single nucleotide variant not provided [RCV003008370] Chr3:158691449 [GRCh38]
Chr3:158409238 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.90G>T (p.Trp30Cys) single nucleotide variant Inborn genetic diseases [RCV004632166]|not provided [RCV003065079] Chr3:158645637 [GRCh38]
Chr3:158363426 [GRCh37]
Chr3:3q25.32		 likely benign|uncertain significance
NM_024996.7(GFM1):c.2100C>T (p.Ser700=) single nucleotide variant not provided [RCV002646335] Chr3:158691168 [GRCh38]
Chr3:158408957 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1380+1G>A single nucleotide variant not provided [RCV003061825] Chr3:158662685 [GRCh38]
Chr3:158380474 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.2071-8G>C single nucleotide variant not provided [RCV003045450] Chr3:158691131 [GRCh38]
Chr3:158408920 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.807G>C (p.Leu269=) single nucleotide variant not provided [RCV003026956] Chr3:158652213 [GRCh38]
Chr3:158370002 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.703T>A (p.Tyr235Asn) single nucleotide variant not provided [RCV002598896] Chr3:158652109 [GRCh38]
Chr3:158369898 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1380+2T>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003459734]|not provided [RCV003063372] Chr3:158662686 [GRCh38]
Chr3:158380475 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.2103T>C (p.Thr701=) single nucleotide variant not provided [RCV002962381] Chr3:158691171 [GRCh38]
Chr3:158408960 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.332G>A (p.Trp111Ter) single nucleotide variant not provided [RCV003029326] Chr3:158646262 [GRCh38]
Chr3:158364051 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.2009G>A (p.Arg670Gln) single nucleotide variant not provided [RCV003060461] Chr3:158690262 [GRCh38]
Chr3:158408051 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.551C>T (p.Ala184Val) single nucleotide variant Inborn genetic diseases [RCV002648298] Chr3:158646926 [GRCh38]
Chr3:158364715 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2112G>A (p.Arg704=) single nucleotide variant not provided [RCV003044134] Chr3:158691180 [GRCh38]
Chr3:158408969 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.153C>T (p.Ile51=) single nucleotide variant not provided [RCV002675718] Chr3:158645700 [GRCh38]
Chr3:158363489 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1350C>G (p.Val450=) single nucleotide variant not provided [RCV002899339] Chr3:158662654 [GRCh38]
Chr3:158380443 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.502C>T (p.Pro168Ser) single nucleotide variant not provided [RCV002806140] Chr3:158646877 [GRCh38]
Chr3:158364666 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1634del (p.Gly545fs) deletion not provided [RCV003030184] Chr3:158682026 [GRCh38]
Chr3:158399815 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.573-18T>A single nucleotide variant not provided [RCV002630010] Chr3:158649023 [GRCh38]
Chr3:158366812 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.684C>T (p.Asp228=) single nucleotide variant not provided [RCV003009801] Chr3:158649152 [GRCh38]
Chr3:158366941 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.595G>T (p.Ala199Ser) single nucleotide variant Inborn genetic diseases [RCV003170768]|not provided [RCV002963035] Chr3:158649063 [GRCh38]
Chr3:158366852 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.82-4dup duplication not provided [RCV002627557] Chr3:158645618..158645619 [GRCh38]
Chr3:158363407..158363408 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.841-4G>A single nucleotide variant not provided [RCV002601713] Chr3:158653306 [GRCh38]
Chr3:158371095 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1470_1471del (p.Glu490fs) microsatellite not provided [RCV003045382] Chr3:158665423..158665424 [GRCh38]
Chr3:158383212..158383213 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.360T>C (p.Asp120=) single nucleotide variant not provided [RCV002601813] Chr3:158646290 [GRCh38]
Chr3:158364079 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.657G>A (p.Glu219=) single nucleotide variant not provided [RCV002962820] Chr3:158649125 [GRCh38]
Chr3:158366914 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.631T>C (p.Phe211Leu) single nucleotide variant Inborn genetic diseases [RCV002920851] Chr3:158649099 [GRCh38]
Chr3:158366888 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2215A>C (p.Thr739Pro) single nucleotide variant Inborn genetic diseases [RCV003068579]|not provided [RCV003068580] Chr3:158691426 [GRCh38]
Chr3:158409215 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1199G>A (p.Arg400His) single nucleotide variant not provided [RCV003093129] Chr3:158659037 [GRCh38]
Chr3:158376826 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.552C>G (p.Ala184=) single nucleotide variant not provided [RCV003070146] Chr3:158646927 [GRCh38]
Chr3:158364716 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-10G>A single nucleotide variant not provided [RCV003049778] Chr3:158660864 [GRCh38]
Chr3:158378653 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.817dup (p.Ile273fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003464582]|not provided [RCV002680697] Chr3:158652217..158652218 [GRCh38]
Chr3:158370006..158370007 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1056A>G (p.Pro352=) single nucleotide variant not provided [RCV002588636] Chr3:158654604 [GRCh38]
Chr3:158372393 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1632dup (p.Gly545fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003465956]|not provided [RCV003070265] Chr3:158682024..158682025 [GRCh38]
Chr3:158399813..158399814 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.666C>T (p.Ala222=) single nucleotide variant not provided [RCV002604437] Chr3:158649134 [GRCh38]
Chr3:158366923 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.824C>T (p.Ser275Leu) single nucleotide variant not provided [RCV002634889] Chr3:158652230 [GRCh38]
Chr3:158370019 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1519-10C>T single nucleotide variant not provided [RCV002589839] Chr3:158666294 [GRCh38]
Chr3:158384083 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1821C>A (p.Leu607=) single nucleotide variant not provided [RCV003050777] Chr3:158684580 [GRCh38]
Chr3:158402369 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.391C>G (p.Pro131Ala) single nucleotide variant not specified [RCV004096908] Chr3:158669112 [GRCh38]
Chr3:158386901 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1577G>A (p.Arg526Gln) single nucleotide variant not provided [RCV003072100] Chr3:158666362 [GRCh38]
Chr3:158384151 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1684G>C (p.Glu562Gln) single nucleotide variant Inborn genetic diseases [RCV003299779] Chr3:158682077 [GRCh38]
Chr3:158399866 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_020169.4(LXN):c.80C>T (p.Thr27Ile) single nucleotide variant not specified [RCV004255611] Chr3:158672399 [GRCh38]
Chr3:158390188 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.137T>A (p.Ile46Lys) single nucleotide variant not provided [RCV003221588] Chr3:158645684 [GRCh38]
Chr3:158363473 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1209C>A (p.Ala403=) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003135362] Chr3:158659047 [GRCh38]
Chr3:158376836 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.982A>G (p.Ile328Val) single nucleotide variant Inborn genetic diseases [RCV003204080] Chr3:158653451 [GRCh38]
Chr3:158371240 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.130G>A (p.Glu44Lys) single nucleotide variant not provided [RCV003221587] Chr3:158645677 [GRCh38]
Chr3:158363466 [GRCh37]
Chr3:3q25.32		 uncertain significance
NC_000003.11:g.(158384176_158399783)_(158410362_?)dup duplication not specified [RCV003324238] Chr3:158399783..158410362 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.28G>T (p.Ala10Ser) single nucleotide variant not provided [RCV003323006] Chr3:158644662 [GRCh38]
Chr3:158362451 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003340925] Chr3:158645699 [GRCh38]
Chr3:158363488 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.114_115del (p.Val40fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461701]|not provided [RCV003779037] Chr3:158645661..158645662 [GRCh38]
Chr3:158363450..158363451 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1303dup (p.Ala435fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461703] Chr3:158660954..158660955 [GRCh38]
Chr3:158378743..158378744 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1799del (p.Ser600fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461705] Chr3:158684558 [GRCh38]
Chr3:158402347 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1951del (p.Ala651fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468276] Chr3:158690203 [GRCh38]
Chr3:158407992 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.368-2A>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468271] Chr3:158646741 [GRCh38]
Chr3:158364530 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468269]|not specified [RCV004587497] Chr3:158659031 [GRCh38]
Chr3:158376820 [GRCh37]
Chr3:3q25.32		 likely pathogenic|uncertain significance
NM_024996.7(GFM1):c.1132C>G (p.Leu378Val) single nucleotide variant Inborn genetic diseases [RCV003365978] Chr3:158658970 [GRCh38]
Chr3:158376759 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.379T>C (p.Phe127Leu) single nucleotide variant Inborn genetic diseases [RCV003375051] Chr3:158646754 [GRCh38]
Chr3:158364543 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.579dup (p.Leu194fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461693] Chr3:158649044..158649045 [GRCh38]
Chr3:158366833..158366834 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.909del (p.Asn303fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461698] Chr3:158653378 [GRCh38]
Chr3:158371167 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.81+17A>G single nucleotide variant not provided [RCV003873146] Chr3:158644732 [GRCh38]
Chr3:158362521 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468280] Chr3:158690234 [GRCh38]
Chr3:158408023 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.381del (p.Phe127fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468273] Chr3:158646756 [GRCh38]
Chr3:158364545 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468267]|not provided [RCV003699108] Chr3:158652193 [GRCh38]
Chr3:158369982 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1758A>G (p.Val586=) single nucleotide variant not provided [RCV003712524] Chr3:158682151 [GRCh38]
Chr3:158399940 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461686] Chr3:158684662..158684665 [GRCh38]
Chr3:158402451..158402454 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.136del (p.Ile46fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461695] Chr3:158645678 [GRCh38]
Chr3:158363467 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.974del (p.Asn325fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461707]|not provided [RCV003708805] Chr3:158653442 [GRCh38]
Chr3:158371231 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.690-13T>C single nucleotide variant not provided [RCV003873467] Chr3:158652083 [GRCh38]
Chr3:158369872 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.573-18T>C single nucleotide variant not provided [RCV003874638] Chr3:158649023 [GRCh38]
Chr3:158366812 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.573-17G>A single nucleotide variant not provided [RCV003874087] Chr3:158649024 [GRCh38]
Chr3:158366813 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.626del (p.Gly209fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468268] Chr3:158649092 [GRCh38]
Chr3:158366881 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.702A>C (p.Arg234=) single nucleotide variant not provided [RCV003570064] Chr3:158652108 [GRCh38]
Chr3:158369897 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-15C>A single nucleotide variant not provided [RCV003570529] Chr3:158646728 [GRCh38]
Chr3:158364517 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-13T>A single nucleotide variant not provided [RCV003686415] Chr3:158690150 [GRCh38]
Chr3:158407939 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1764+18T>C single nucleotide variant not provided [RCV003872691] Chr3:158682175 [GRCh38]
Chr3:158399964 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1399dup (p.Ser467fs) duplication not provided [RCV003543609] Chr3:158665351..158665352 [GRCh38]
Chr3:158383140..158383141 [GRCh37]
Chr3:3q25.32		 pathogenic
GRCh37/hg19 3q25.32(chr3:158405217-158775879)x1 copy number loss not provided [RCV003485403] Chr3:158405217..158775879 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2071-14_2071-13del deletion not provided [RCV003543076] Chr3:158691124..158691125 [GRCh38]
Chr3:158408913..158408914 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2077C>T (p.Leu693=) single nucleotide variant not provided [RCV003571314] Chr3:158691145 [GRCh38]
Chr3:158408934 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.900C>T (p.Ala300=) single nucleotide variant not provided [RCV003875561] Chr3:158653369 [GRCh38]
Chr3:158371158 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1525G>T (p.Glu509Ter) single nucleotide variant GFM1-related disorder [RCV003422468]|not provided [RCV003720905] Chr3:158666310 [GRCh38]
Chr3:158384099 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.1157dup (p.Asn386fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468274] Chr3:158658993..158658994 [GRCh38]
Chr3:158376782..158376783 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.154_155del (p.Ala53fs) microsatellite Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468270] Chr3:158645699..158645700 [GRCh38]
Chr3:158363488..158363489 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461687] Chr3:158665472 [GRCh38]
Chr3:158383261 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461689] Chr3:158654591..158654603 [GRCh38]
Chr3:158372380..158372392 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461692] Chr3:158652111 [GRCh38]
Chr3:158369900 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.573-2A>G single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461694] Chr3:158649039 [GRCh38]
Chr3:158366828 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461699] Chr3:158653398 [GRCh38]
Chr3:158371187 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.113_116dup (p.Val40fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461700] Chr3:158645659..158645660 [GRCh38]
Chr3:158363448..158363449 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV003481716] Chr3:158644687 [GRCh38]
Chr3:158362476 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1909+2T>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461691] Chr3:158684670 [GRCh38]
Chr3:158402459 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs) indel Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461697] Chr3:158646292..158646297 [GRCh38]
Chr3:158364081..158364086 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461706] Chr3:158646254 [GRCh38]
Chr3:158364043 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.689+2T>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468277] Chr3:158649159 [GRCh38]
Chr3:158366948 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.367+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461688] Chr3:158646298 [GRCh38]
Chr3:158364087 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.914del (p.Gly305fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461690] Chr3:158653382 [GRCh38]
Chr3:158371171 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461702]|not provided [RCV003661061] Chr3:158652131 [GRCh38]
Chr3:158369920 [GRCh37]
Chr3:3q25.32		 pathogenic|likely pathogenic
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003461704] Chr3:158646902 [GRCh38]
Chr3:158364691 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.851G>A (p.Arg284Gln) single nucleotide variant GFM1-related disorder [RCV003412009] Chr3:158653320 [GRCh38]
Chr3:158371109 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.88T>G (p.Trp30Gly) single nucleotide variant not provided [RCV003434784] Chr3:158645635 [GRCh38]
Chr3:158363424 [GRCh37]
Chr3:3q25.32		 likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_024996.7(GFM1):c.999-1G>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468275] Chr3:158654546 [GRCh38]
Chr3:158372335 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.361dup (p.Thr121fs) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468278] Chr3:158646290..158646291 [GRCh38]
Chr3:158364079..158364080 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.636del (p.Gly213fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468279] Chr3:158649102 [GRCh38]
Chr3:158366891 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1381-1G>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV003468272] Chr3:158665336 [GRCh38]
Chr3:158383125 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1764+1G>T single nucleotide variant GFM1-related disorder [RCV003416882] Chr3:158682158 [GRCh38]
Chr3:158399947 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.2155A>G (p.Arg719Gly) single nucleotide variant GFM1-related disorder [RCV003405778] Chr3:158691366 [GRCh38]
Chr3:158409155 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.572+7A>G single nucleotide variant not provided [RCV003877616] Chr3:158646954 [GRCh38]
Chr3:158364743 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1182G>A (p.Arg394=) single nucleotide variant not provided [RCV003579600] Chr3:158659020 [GRCh38]
Chr3:158376809 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-15A>C single nucleotide variant not provided [RCV003740060] Chr3:158658907 [GRCh38]
Chr3:158376696 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1287C>T (p.Asp429=) single nucleotide variant not provided [RCV003579027] Chr3:158660939 [GRCh38]
Chr3:158378728 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1765-20T>C single nucleotide variant not provided [RCV003576314] Chr3:158684504 [GRCh38]
Chr3:158402293 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324-9dup duplication not provided [RCV003738982] Chr3:158662613..158662614 [GRCh38]
Chr3:158380402..158380403 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.27C>T (p.Val9=) single nucleotide variant not provided [RCV003576919] Chr3:158644661 [GRCh38]
Chr3:158362450 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.303T>C (p.Thr101=) single nucleotide variant not provided [RCV003576999] Chr3:158646233 [GRCh38]
Chr3:158364022 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-19A>G single nucleotide variant not provided [RCV003878994] Chr3:158652077 [GRCh38]
Chr3:158369866 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.235-9dup duplication not provided [RCV003547513] Chr3:158646154..158646155 [GRCh38]
Chr3:158363943..158363944 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.572+15A>C single nucleotide variant not provided [RCV003826643] Chr3:158646962 [GRCh38]
Chr3:158364751 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1791C>T (p.Gly597=) single nucleotide variant not provided [RCV003544815] Chr3:158684550 [GRCh38]
Chr3:158402339 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.402C>G (p.Ala134=) single nucleotide variant not provided [RCV003572978] Chr3:158646777 [GRCh38]
Chr3:158364566 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1764+17del deletion not provided [RCV003575714] Chr3:158682174 [GRCh38]
Chr3:158399963 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-16C>G single nucleotide variant not provided [RCV003546434] Chr3:158645613 [GRCh38]
Chr3:158363402 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.213C>T (p.Gly71=) single nucleotide variant not provided [RCV003824848] Chr3:158645760 [GRCh38]
Chr3:158363549 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.18T>G (p.Ala6=) single nucleotide variant not provided [RCV003694129] Chr3:158644652 [GRCh38]
Chr3:158362441 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+18A>G single nucleotide variant not provided [RCV003575271] Chr3:158684686 [GRCh38]
Chr3:158402475 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1601+7A>G single nucleotide variant not provided [RCV003716483] Chr3:158666393 [GRCh38]
Chr3:158384182 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.295G>T (p.Gly99Ter) single nucleotide variant not provided [RCV003692030] Chr3:158646225 [GRCh38]
Chr3:158364014 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.753G>A (p.Gln251=) single nucleotide variant not provided [RCV003693413] Chr3:158652159 [GRCh38]
Chr3:158369948 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-11_368-9del deletion not provided [RCV003576705] Chr3:158646730..158646732 [GRCh38]
Chr3:158364519..158364521 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-11A>G single nucleotide variant not provided [RCV003574668] Chr3:158645618 [GRCh38]
Chr3:158363407 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.582A>C (p.Leu194=) single nucleotide variant not provided [RCV003686516] Chr3:158649050 [GRCh38]
Chr3:158366839 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-22_1910-20del deletion not provided [RCV003715625] Chr3:158690141..158690143 [GRCh38]
Chr3:158407930..158407932 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-9A>C single nucleotide variant not provided [RCV003692292] Chr3:158691327 [GRCh38]
Chr3:158409116 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1815T>C (p.Ser605=) single nucleotide variant not provided [RCV003686614] Chr3:158684574 [GRCh38]
Chr3:158402363 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1242C>G (p.Ala414=) single nucleotide variant not provided [RCV003577166] Chr3:158660894 [GRCh38]
Chr3:158378683 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2019G>T (p.Gly673=) single nucleotide variant not provided [RCV003544224] Chr3:158690272 [GRCh38]
Chr3:158408061 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1601+16A>C single nucleotide variant not provided [RCV003572306] Chr3:158666402 [GRCh38]
Chr3:158384191 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1083+14T>C single nucleotide variant not provided [RCV003572815] Chr3:158654645 [GRCh38]
Chr3:158372434 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+14T>C single nucleotide variant not provided [RCV003578042] Chr3:158646311 [GRCh38]
Chr3:158364100 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.841-168_844delinsCTTTCTTCTT indel not provided [RCV003572911] Chr3:158653142..158653313 [GRCh38]
Chr3:158370931..158371102 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1452dup (p.Asp485Ter) duplication not provided [RCV003690160] Chr3:158665405..158665406 [GRCh38]
Chr3:158383194..158383195 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.576T>G (p.Ser192=) single nucleotide variant not provided [RCV003690161] Chr3:158649044 [GRCh38]
Chr3:158366833 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2071-1G>C single nucleotide variant not provided [RCV003694885] Chr3:158691138 [GRCh38]
Chr3:158408927 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.850C>A (p.Arg284=) single nucleotide variant not provided [RCV003691509] Chr3:158653319 [GRCh38]
Chr3:158371108 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.612C>G (p.Pro204=) single nucleotide variant not provided [RCV003544403] Chr3:158649080 [GRCh38]
Chr3:158366869 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1512T>C (p.Tyr504=) single nucleotide variant not provided [RCV003688793] Chr3:158665468 [GRCh38]
Chr3:158383257 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-1G>C single nucleotide variant not provided [RCV003575767] Chr3:158646742 [GRCh38]
Chr3:158364531 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1601+13C>T single nucleotide variant not provided [RCV003738948] Chr3:158666399 [GRCh38]
Chr3:158384188 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.747C>T (p.His249=) single nucleotide variant not provided [RCV003696162] Chr3:158652153 [GRCh38]
Chr3:158369942 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-8_1602-7del deletion not provided [RCV003693237] Chr3:158681986..158681987 [GRCh38]
Chr3:158399775..158399776 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1479A>T (p.Ile493=) single nucleotide variant not provided [RCV003739854] Chr3:158665435 [GRCh38]
Chr3:158383224 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1890A>G (p.Gly630=) single nucleotide variant not provided [RCV003739855] Chr3:158684649 [GRCh38]
Chr3:158402438 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.999-19A>G single nucleotide variant not provided [RCV003876412] Chr3:158654528 [GRCh38]
Chr3:158372317 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1416G>A (p.Arg472=) single nucleotide variant not provided [RCV003572242] Chr3:158665372 [GRCh38]
Chr3:158383161 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-19dup duplication not provided [RCV003572335] Chr3:158658902..158658903 [GRCh38]
Chr3:158376691..158376692 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+19G>T single nucleotide variant not provided [RCV003544289] Chr3:158644734 [GRCh38]
Chr3:158362523 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-11del deletion not provided [RCV003544609] Chr3:158652083 [GRCh38]
Chr3:158369872 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.249T>C (p.Asp83=) single nucleotide variant not provided [RCV003544573] Chr3:158646179 [GRCh38]
Chr3:158363968 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.204C>T (p.Tyr68=) single nucleotide variant not provided [RCV003876579] Chr3:158645751 [GRCh38]
Chr3:158363540 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+8G>A single nucleotide variant not provided [RCV003689998] Chr3:158684676 [GRCh38]
Chr3:158402465 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.885A>G (p.Val295=) single nucleotide variant not provided [RCV003688366] Chr3:158653354 [GRCh38]
Chr3:158371143 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1470G>A (p.Glu490=) single nucleotide variant not provided [RCV003716009] Chr3:158665426 [GRCh38]
Chr3:158383215 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-16C>T single nucleotide variant not provided [RCV003575302] Chr3:158645613 [GRCh38]
Chr3:158363402 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2031G>A (p.Gly677=) single nucleotide variant not provided [RCV003545325] Chr3:158690284 [GRCh38]
Chr3:158408073 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1731T>C (p.Asn577=) single nucleotide variant not provided [RCV003690516] Chr3:158682124 [GRCh38]
Chr3:158399913 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.207C>T (p.Tyr69=) single nucleotide variant not provided [RCV003717788] Chr3:158645754 [GRCh38]
Chr3:158363543 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.183A>G (p.Thr61=) single nucleotide variant not provided [RCV003850298] Chr3:158645730 [GRCh38]
Chr3:158363519 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1380+11G>A single nucleotide variant not provided [RCV003717903] Chr3:158662695 [GRCh38]
Chr3:158380484 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-13G>T single nucleotide variant not provided [RCV003740421] Chr3:158645616 [GRCh38]
Chr3:158363405 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-18C>A single nucleotide variant not provided [RCV003740420] Chr3:158658904 [GRCh38]
Chr3:158376693 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2124+20C>G single nucleotide variant not provided [RCV003740443] Chr3:158691212 [GRCh38]
Chr3:158409001 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.945A>G (p.Glu315=) single nucleotide variant not provided [RCV003834286] Chr3:158653414 [GRCh38]
Chr3:158371203 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2070+10C>G single nucleotide variant not provided [RCV003717357] Chr3:158690333 [GRCh38]
Chr3:158408122 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-15T>G single nucleotide variant not provided [RCV003717405] Chr3:158645614 [GRCh38]
Chr3:158363403 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1518+16_1518+19del deletion not provided [RCV003810715] Chr3:158665487..158665490 [GRCh38]
Chr3:158383276..158383279 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-13G>A single nucleotide variant not provided [RCV003562205] Chr3:158645616 [GRCh38]
Chr3:158363405 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.234+7dup duplication not provided [RCV003851410] Chr3:158645787..158645788 [GRCh38]
Chr3:158363576..158363577 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+11T>G single nucleotide variant not provided [RCV003703684] Chr3:158646308 [GRCh38]
Chr3:158364097 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2071-12G>A single nucleotide variant not provided [RCV003849551] Chr3:158691127 [GRCh38]
Chr3:158408916 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+10G>A single nucleotide variant not provided [RCV003852530] Chr3:158653477 [GRCh38]
Chr3:158371266 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-14T>A single nucleotide variant not provided [RCV003717145] Chr3:158681981 [GRCh38]
Chr3:158399770 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.572+17T>G single nucleotide variant not provided [RCV003726718] Chr3:158646964 [GRCh38]
Chr3:158364753 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.336A>G (p.Lys112=) single nucleotide variant not provided [RCV003697130] Chr3:158646266 [GRCh38]
Chr3:158364055 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2013C>T (p.Arg671=) single nucleotide variant not provided [RCV003663783] Chr3:158690266 [GRCh38]
Chr3:158408055 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+15T>C single nucleotide variant not provided [RCV003562175] Chr3:158653482 [GRCh38]
Chr3:158371271 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.171T>A (p.Ser57=) single nucleotide variant not provided [RCV003669047] Chr3:158645718 [GRCh38]
Chr3:158363507 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-11T>C single nucleotide variant not provided [RCV003561859] Chr3:158665326 [GRCh38]
Chr3:158383115 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.516T>C (p.Phe172=) single nucleotide variant not provided [RCV003580672] Chr3:158646891 [GRCh38]
Chr3:158364680 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+16del deletion not provided [RCV003725269] Chr3:158684682 [GRCh38]
Chr3:158402471 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.384A>G (p.Thr128=) single nucleotide variant not provided [RCV003702518] Chr3:158646759 [GRCh38]
Chr3:158364548 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1134A>G (p.Leu378=) single nucleotide variant not provided [RCV003700814] Chr3:158658972 [GRCh38]
Chr3:158376761 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.30G>A (p.Ala10=) single nucleotide variant not provided [RCV003836346] Chr3:158644664 [GRCh38]
Chr3:158362453 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-9T>G single nucleotide variant not provided [RCV003837849] Chr3:158690154 [GRCh38]
Chr3:158407943 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2028T>A (p.Thr676=) single nucleotide variant not provided [RCV003836634] Chr3:158690281 [GRCh38]
Chr3:158408070 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1765-12A>C single nucleotide variant not provided [RCV003724103] Chr3:158684512 [GRCh38]
Chr3:158402301 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-13T>C single nucleotide variant not provided [RCV003839430] Chr3:158665324 [GRCh38]
Chr3:158383113 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.999-9T>A single nucleotide variant not provided [RCV003671687] Chr3:158654538 [GRCh38]
Chr3:158372327 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2124+20C>A single nucleotide variant not provided [RCV003816486] Chr3:158691212 [GRCh38]
Chr3:158409001 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.363T>A (p.Thr121=) single nucleotide variant not provided [RCV003835551] Chr3:158646293 [GRCh38]
Chr3:158364082 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.831T>C (p.Ser277=) single nucleotide variant not provided [RCV003701586] Chr3:158652237 [GRCh38]
Chr3:158370026 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.234+13G>A single nucleotide variant not provided [RCV003833919] Chr3:158645794 [GRCh38]
Chr3:158363583 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.840+8C>T single nucleotide variant not provided [RCV003700127] Chr3:158652254 [GRCh38]
Chr3:158370043 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+7T>A single nucleotide variant not provided [RCV003668508] Chr3:158684675 [GRCh38]
Chr3:158402464 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.573-13T>C single nucleotide variant not provided [RCV003668881] Chr3:158649028 [GRCh38]
Chr3:158366817 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2070+1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004574120]|not provided [RCV003558302] Chr3:158690324 [GRCh38]
Chr3:158408113 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.689+14A>C single nucleotide variant not provided [RCV003560381] Chr3:158649171 [GRCh38]
Chr3:158366960 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2172A>G (p.Leu724=) single nucleotide variant not provided [RCV003717006] Chr3:158691383 [GRCh38]
Chr3:158409172 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1026_1027insCC (p.Met343fs) insertion not provided [RCV003699507] Chr3:158654574..158654575 [GRCh38]
Chr3:158372363..158372364 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.402C>T (p.Ala134=) single nucleotide variant not provided [RCV003723608] Chr3:158646777 [GRCh38]
Chr3:158364566 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2247C>T (p.Ala749=) single nucleotide variant not provided [RCV003672122] Chr3:158691458 [GRCh38]
Chr3:158409247 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.789G>A (p.Gln263=) single nucleotide variant not provided [RCV003699725] Chr3:158652195 [GRCh38]
Chr3:158369984 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1083+8G>C single nucleotide variant not provided [RCV003580725] Chr3:158654639 [GRCh38]
Chr3:158372428 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1929A>G (p.Leu643=) single nucleotide variant not provided [RCV003580682] Chr3:158690182 [GRCh38]
Chr3:158407971 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1017C>T (p.Thr339=) single nucleotide variant not provided [RCV003723977] Chr3:158654565 [GRCh38]
Chr3:158372354 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.857del (p.Ala286fs) deletion not provided [RCV003858130] Chr3:158653326 [GRCh38]
Chr3:158371115 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.494A>G (p.Tyr165Cys) single nucleotide variant not provided [RCV003708864] Chr3:158646869 [GRCh38]
Chr3:158364658 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.558C>T (p.Ala186=) single nucleotide variant not provided [RCV003670755] Chr3:158646933 [GRCh38]
Chr3:158364722 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+1G>A single nucleotide variant not provided [RCV003542741] Chr3:158653468 [GRCh38]
Chr3:158371257 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1222-6T>C single nucleotide variant not provided [RCV003542115] Chr3:158660868 [GRCh38]
Chr3:158378657 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1812C>G (p.Leu604=) single nucleotide variant not provided [RCV003675875] Chr3:158684571 [GRCh38]
Chr3:158402360 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.774C>T (p.Ala258=) single nucleotide variant not provided [RCV003563516] Chr3:158652180 [GRCh38]
Chr3:158369969 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-14C>T single nucleotide variant not provided [RCV003823474] Chr3:158645615 [GRCh38]
Chr3:158363404 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2041G>C (p.Val681Leu) single nucleotide variant not provided [RCV003553713] Chr3:158690294 [GRCh38]
Chr3:158408083 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1221+1G>A single nucleotide variant not provided [RCV003704511] Chr3:158659060 [GRCh38]
Chr3:158376849 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1221+8C>G single nucleotide variant not provided [RCV003844134] Chr3:158659067 [GRCh38]
Chr3:158376856 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1183T>C (p.Leu395=) single nucleotide variant not provided [RCV003565999] Chr3:158659021 [GRCh38]
Chr3:158376810 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+15T>C single nucleotide variant not provided [RCV003864511] Chr3:158646312 [GRCh38]
Chr3:158364101 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1401A>G (p.Ser467=) single nucleotide variant not provided [RCV003735954] Chr3:158665357 [GRCh38]
Chr3:158383146 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2071-16_2071-14del microsatellite not provided [RCV003736079] Chr3:158691120..158691122 [GRCh38]
Chr3:158408909..158408911 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324-18T>C single nucleotide variant not provided [RCV003712090] Chr3:158662610 [GRCh38]
Chr3:158380399 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1014A>G (p.Lys338=) single nucleotide variant not provided [RCV003706042] Chr3:158654562 [GRCh38]
Chr3:158372351 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.998+20T>C single nucleotide variant not provided [RCV003860831] Chr3:158653487 [GRCh38]
Chr3:158371276 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1324-14A>T single nucleotide variant not provided [RCV003683019] Chr3:158662614 [GRCh38]
Chr3:158380403 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.690-14A>G single nucleotide variant not provided [RCV003675924] Chr3:158652082 [GRCh38]
Chr3:158369871 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.948C>T (p.Tyr316=) single nucleotide variant not provided [RCV003862388] Chr3:158653417 [GRCh38]
Chr3:158371206 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.840+12C>T single nucleotide variant not provided [RCV003870720] Chr3:158652258 [GRCh38]
Chr3:158370047 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1338T>G (p.Val446=) single nucleotide variant not provided [RCV003684076] Chr3:158662642 [GRCh38]
Chr3:158380431 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1084-13T>C single nucleotide variant not provided [RCV003853166] Chr3:158658909 [GRCh38]
Chr3:158376698 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+18G>A single nucleotide variant not provided [RCV003722709] Chr3:158644733 [GRCh38]
Chr3:158362522 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+12T>C single nucleotide variant not provided [RCV003842256] Chr3:158644727 [GRCh38]
Chr3:158362516 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-9T>C single nucleotide variant not provided [RCV003679267] Chr3:158660865 [GRCh38]
Chr3:158378654 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-15C>A single nucleotide variant not provided [RCV003733995] Chr3:158665322 [GRCh38]
Chr3:158383111 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.572+1G>A single nucleotide variant not provided [RCV003684270] Chr3:158646948 [GRCh38]
Chr3:158364737 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1764+17G>A single nucleotide variant not provided [RCV003684282] Chr3:158682174 [GRCh38]
Chr3:158399963 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-17T>C single nucleotide variant not provided [RCV003723007] Chr3:158691319 [GRCh38]
Chr3:158409108 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-5T>C single nucleotide variant not provided [RCV003845795] Chr3:158646738 [GRCh38]
Chr3:158364527 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-14_1222-11del deletion not provided [RCV003736073] Chr3:158660858..158660861 [GRCh38]
Chr3:158378647..158378650 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-17TTC[2] microsatellite not provided [RCV003719599] Chr3:158665320..158665322 [GRCh38]
Chr3:158383109..158383111 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2125-4C>A single nucleotide variant not provided [RCV003721481] Chr3:158691332 [GRCh38]
Chr3:158409121 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.689+2del deletion not provided [RCV003721597] Chr3:158649159 [GRCh38]
Chr3:158366948 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1765-7T>C single nucleotide variant not provided [RCV003707203] Chr3:158684517 [GRCh38]
Chr3:158402306 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.999-7T>C single nucleotide variant not provided [RCV003867968] Chr3:158654540 [GRCh38]
Chr3:158372329 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1863T>C (p.Ser621=) single nucleotide variant not provided [RCV003709113] Chr3:158684622 [GRCh38]
Chr3:158402411 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1800T>C (p.Ser600=) single nucleotide variant not provided [RCV003870329] Chr3:158684559 [GRCh38]
Chr3:158402348 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.906G>A (p.Lys302=) single nucleotide variant not provided [RCV003872206] Chr3:158653375 [GRCh38]
Chr3:158371164 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1380+9T>C single nucleotide variant not provided [RCV003867071] Chr3:158662693 [GRCh38]
Chr3:158380482 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2241A>G (p.Gly747=) single nucleotide variant not provided [RCV003721111] Chr3:158691452 [GRCh38]
Chr3:158409241 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2205T>C (p.Tyr735=) single nucleotide variant not provided [RCV003685912] Chr3:158691416 [GRCh38]
Chr3:158409205 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+11A>G single nucleotide variant not provided [RCV003722534] Chr3:158644726 [GRCh38]
Chr3:158362515 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.234+2TA[5] microsatellite not provided [RCV003683928] Chr3:158645782..158645783 [GRCh38]
Chr3:158363571..158363572 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-2del deletion not provided [RCV003551696] Chr3:158681993 [GRCh38]
Chr3:158399782 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1909+14G>A single nucleotide variant not provided [RCV003719840] Chr3:158684682 [GRCh38]
Chr3:158402471 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1381-17T>C single nucleotide variant not provided [RCV003542625] Chr3:158665320 [GRCh38]
Chr3:158383109 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1222-10_1222-7del deletion not provided [RCV003685007] Chr3:158660861..158660864 [GRCh38]
Chr3:158378650..158378653 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.2025C>T (p.Ile675=) single nucleotide variant not provided [RCV003678709] Chr3:158690278 [GRCh38]
Chr3:158408067 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+15T>G single nucleotide variant not provided [RCV003568344] Chr3:158646312 [GRCh38]
Chr3:158364101 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1323+9T>C single nucleotide variant not provided [RCV003720430] Chr3:158660984 [GRCh38]
Chr3:158378773 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-14T>C single nucleotide variant not provided [RCV003728523] Chr3:158646729 [GRCh38]
Chr3:158364518 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.841-9C>A single nucleotide variant not provided [RCV003678930] Chr3:158653301 [GRCh38]
Chr3:158371090 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.689+20T>G single nucleotide variant not provided [RCV003738641] Chr3:158649177 [GRCh38]
Chr3:158366966 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.82-14C>G single nucleotide variant not provided [RCV003719545] Chr3:158645615 [GRCh38]
Chr3:158363404 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.841-10T>G single nucleotide variant not provided [RCV003674986] Chr3:158653300 [GRCh38]
Chr3:158371089 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.628A>G (p.Asn210Asp) single nucleotide variant not provided [RCV003562704] Chr3:158649096 [GRCh38]
Chr3:158366885 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.2125-28_2125-17del deletion not provided [RCV003821395] Chr3:158691308..158691319 [GRCh38]
Chr3:158409097..158409108 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1519-19T>C single nucleotide variant not provided [RCV003684466] Chr3:158666285 [GRCh38]
Chr3:158384074 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1536T>A (p.Tyr512Ter) single nucleotide variant not provided [RCV003704710] Chr3:158666321 [GRCh38]
Chr3:158384110 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.691C>T (p.Gln231Ter) single nucleotide variant not provided [RCV003819079] Chr3:158652097 [GRCh38]
Chr3:158369886 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_024996.7(GFM1):c.1083+10T>A single nucleotide variant not provided [RCV003709033] Chr3:158654641 [GRCh38]
Chr3:158372430 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-7C>T single nucleotide variant not provided [RCV003681026] Chr3:158681988 [GRCh38]
Chr3:158399777 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1519-15C>T single nucleotide variant not provided [RCV003679419] Chr3:158666289 [GRCh38]
Chr3:158384078 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.81+13A>G single nucleotide variant not provided [RCV003863946] Chr3:158644728 [GRCh38]
Chr3:158362517 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1519-1G>C single nucleotide variant not provided [RCV003856931] Chr3:158666303 [GRCh38]
Chr3:158384092 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.368-14_368-12del deletion not provided [RCV003820610] Chr3:158646728..158646730 [GRCh38]
Chr3:158364517..158364519 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1911C>T (p.Ala637=) single nucleotide variant not provided [RCV003567362] Chr3:158690164 [GRCh38]
Chr3:158407953 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1719A>G (p.Thr573=) single nucleotide variant not provided [RCV003554477] Chr3:158682112 [GRCh38]
Chr3:158399901 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1212C>T (p.Asp404=) single nucleotide variant not provided [RCV003864183] Chr3:158659050 [GRCh38]
Chr3:158376839 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-19_1602-18insC insertion not provided [RCV003542738] Chr3:158681976..158681977 [GRCh38]
Chr3:158399765..158399766 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.368-4T>G single nucleotide variant not provided [RCV003709304] Chr3:158646739 [GRCh38]
Chr3:158364528 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.367+13C>G single nucleotide variant not provided [RCV003707343] Chr3:158646310 [GRCh38]
Chr3:158364099 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1764+16del deletion not provided [RCV003679994] Chr3:158682168 [GRCh38]
Chr3:158399957 [GRCh37]
Chr3:3q25.32		 benign
NM_024996.7(GFM1):c.1601+13C>A single nucleotide variant not provided [RCV003563649] Chr3:158666399 [GRCh38]
Chr3:158384188 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1765-11T>C single nucleotide variant not provided [RCV003735999] Chr3:158684513 [GRCh38]
Chr3:158402302 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1909+20C>T single nucleotide variant not provided [RCV003857330] Chr3:158684688 [GRCh38]
Chr3:158402477 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1602-18T>C single nucleotide variant not provided [RCV003679473] Chr3:158681977 [GRCh38]
Chr3:158399766 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.235-1G>A single nucleotide variant not provided [RCV003552647] Chr3:158646164 [GRCh38]
Chr3:158363953 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1554A>G (p.Thr518=) single nucleotide variant not provided [RCV003555066] Chr3:158666339 [GRCh38]
Chr3:158384128 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1221+16T>C single nucleotide variant not provided [RCV003734538] Chr3:158659075 [GRCh38]
Chr3:158376864 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1503G>T (p.Leu501=) single nucleotide variant GFM1-related disorder [RCV003964600] Chr3:158665459 [GRCh38]
Chr3:158383248 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.1910-9_1910-8del deletion GFM1-related disorder [RCV003934065] Chr3:158690142..158690143 [GRCh38]
Chr3:158407931..158407932 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.961T>C (p.Ser321Pro) single nucleotide variant not specified [RCV003988594] Chr3:158653430 [GRCh38]
Chr3:158371219 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.689+884T>C single nucleotide variant GFM1-related disorder [RCV003957290] Chr3:158650041 [GRCh38]
Chr3:158367830 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.102A>G (p.Arg34=) single nucleotide variant GFM1-related disorder [RCV003967162] Chr3:158645649 [GRCh38]
Chr3:158363438 [GRCh37]
Chr3:3q25.32		 likely benign
NM_024996.7(GFM1):c.548del (p.Pro183fs) deletion Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576679] Chr3:158646921 [GRCh38]
Chr3:158364710 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.287_288del (p.Arg96fs) microsatellite Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576680] Chr3:158646212..158646213 [GRCh38]
Chr3:158364001..158364002 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576681] Chr3:158666333 [GRCh38]
Chr3:158384122 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter) single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576683] Chr3:158691165 [GRCh38]
Chr3:158408954 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.2125-1G>A single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576685] Chr3:158691335 [GRCh38]
Chr3:158409124 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1207G>A (p.Ala403Thr) single nucleotide variant Inborn genetic diseases [RCV004387794] Chr3:158659045 [GRCh38]
Chr3:158376834 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.614T>C (p.Met205Thr) single nucleotide variant Inborn genetic diseases [RCV004387796] Chr3:158649082 [GRCh38]
Chr3:158366871 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1535A>T (p.Tyr512Phe) single nucleotide variant Inborn genetic diseases [RCV004387795] Chr3:158666320 [GRCh38]
Chr3:158384109 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.323dup (p.Tyr108Ter) duplication Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576682] Chr3:158646252..158646253 [GRCh38]
Chr3:158364041..158364042 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NM_024996.7(GFM1):c.1083+1G>C single nucleotide variant Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [RCV004576684] Chr3:158654632 [GRCh38]
Chr3:158372421 [GRCh37]
Chr3:3q25.32		 likely pathogenic
NC_000003.11:g.(?_158362424)_(158384195_?)del deletion not provided [RCV004582328] Chr3:158362424..158384195 [GRCh37]
Chr3:3q25.32		 pathogenic
NC_000003.11:g.(?_158362424)_(158370055_?)del deletion not provided [RCV004582329] Chr3:158362424..158370055 [GRCh37]
Chr3:3q25.32		 pathogenic
NC_000003.11:g.(?_158369865)_(158409256_?)del deletion not provided [RCV004582330] Chr3:158369865..158409256 [GRCh37]
Chr3:3q25.32		 pathogenic
NM_020169.4(LXN):c.208T>C (p.Cys70Arg) single nucleotide variant not specified [RCV004640299] Chr3:158669595 [GRCh38]
Chr3:158387384 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.73A>G (p.Arg25Gly) single nucleotide variant Inborn genetic diseases [RCV004626937] Chr3:158644707 [GRCh38]
Chr3:158362496 [GRCh37]
Chr3:3q25.32		 likely benign
NM_020169.4(LXN):c.65A>G (p.Asn22Ser) single nucleotide variant not specified [RCV004640301] Chr3:158672414 [GRCh38]
Chr3:158390203 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_020169.4(LXN):c.322C>G (p.Gln108Glu) single nucleotide variant not specified [RCV004640302] Chr3:158669481 [GRCh38]
Chr3:158387270 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1138A>G (p.Lys380Glu) single nucleotide variant Inborn genetic diseases [RCV004626939] Chr3:158658976 [GRCh38]
Chr3:158376765 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.479G>A (p.Arg160His) single nucleotide variant Inborn genetic diseases [RCV004626936] Chr3:158646854 [GRCh38]
Chr3:158364643 [GRCh37]
Chr3:3q25.32		 uncertain significance
NC_000003.11:g.(?_158362315)_(158413371_?)dup duplication not specified [RCV004701149] Chr3:158362315..158413371 [GRCh37]
Chr3:3q25.32		 uncertain significance
NM_024996.7(GFM1):c.1511A>G (p.Tyr504Cys) single nucleotide variant not provided [RCV004763801]   uncertain significance
NM_024996.7(GFM1):c.1848C>A (p.His616Gln) single nucleotide variant not provided [RCV004760864]   uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2025
Count of miRNA genes:723
Interacting mature miRNAs:834
Transcripts:ENST00000264263, ENST00000312756, ENST00000464732, ENST00000472383, ENST00000477721, ENST00000478251, ENST00000478254, ENST00000478576, ENST00000481468, ENST00000486715, ENST00000490261
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406969382GWAS618358_Heducational attainment QTL GWAS618358 (human)4e-12educational attainment3158668177158668178Human
407237602GWAS886578_Hbone density QTL GWAS886578 (human)5e-256bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)3158655957158655958Human
407228877GWAS877853_Hdiastolic blood pressure QTL GWAS877853 (human)1e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)3158649111158649112Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407263286GWAS912262_Hdiastolic blood pressure QTL GWAS912262 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)3158670991158670992Human
407228884GWAS877860_Hdiastolic blood pressure QTL GWAS877860 (human)3e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)3158649111158649112Human
407218900GWAS867876_Hblood protein measurement QTL GWAS867876 (human)1e-160blood protein measurementblood protein measurement (CMO:0000028)3158670991158670992Human
406967826GWAS616802_Hretinoic acid receptor responder protein 1 measurement QTL GWAS616802 (human)2e-86retinoic acid receptor responder protein 1 measurement3158687683158687684Human
407218902GWAS867878_Hblood protein measurement QTL GWAS867878 (human)2e-190blood protein measurementblood protein measurement (CMO:0000028)3158670991158670992Human
407263708GWAS912684_Hdiastolic blood pressure QTL GWAS912684 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)3158670991158670992Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407174651GWAS823627_Heosinophil measurement QTL GWAS823627 (human)2e-10eosinophil measurement3158672168158672169Human
407218906GWAS867882_Hblood protein measurement QTL GWAS867882 (human)8e-204blood protein measurementblood protein measurement (CMO:0000028)3158670991158670992Human

Markers in Region
RH80464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,409,667 - 158,409,873UniSTSGRCh37
Build 363159,892,361 - 159,892,567RGDNCBI36
Celera3156,832,252 - 156,832,458RGD
Cytogenetic Map3q25UniSTS
HuRef3155,805,512 - 155,805,718UniSTS
GeneMap99-GB4 RH Map3577.32UniSTS
RH102943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,384,339 - 158,384,518UniSTSGRCh37
Build 363159,867,033 - 159,867,212RGDNCBI36
Celera3156,806,924 - 156,807,103RGD
Cytogenetic Map3q25.32UniSTS
Cytogenetic Map3q25UniSTS
HuRef3155,780,185 - 155,780,364UniSTS
GeneMap99-GB4 RH Map3584.13UniSTS
RH103335  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,409,832 - 158,409,977UniSTSGRCh37
Build 363159,892,526 - 159,892,671RGDNCBI36
Celera3156,832,417 - 156,832,562RGD
Cytogenetic Map3q25UniSTS
HuRef3155,805,677 - 155,805,822UniSTS
GeneMap99-GB4 RH Map3584.33UniSTS
RH70156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,372,906 - 158,373,034UniSTSGRCh37
Build 363159,855,600 - 159,855,728RGDNCBI36
Celera3156,795,491 - 156,795,619RGD
Cytogenetic Map3q25UniSTS
HuRef3155,768,752 - 155,768,880UniSTS
GeneMap99-GB4 RH Map3584.84UniSTS
STS-N90141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373158,410,028 - 158,410,271UniSTSGRCh37
Build 363159,892,722 - 159,892,965RGDNCBI36
Celera3156,832,613 - 156,832,856RGD
Cytogenetic Map3q25UniSTS
HuRef3155,805,873 - 155,806,116UniSTS
GeneMap99-GB4 RH Map3584.74UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
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Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF309777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF367998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC049210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ205265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264263   ⟹   ENSP00000264263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,644,597 - 158,692,569 (+)Ensembl
Ensembl Acc Id: ENST00000312756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,652,198 - 158,657,518 (+)Ensembl
Ensembl Acc Id: ENST00000464732   ⟹   ENSP00000417532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,644,705 - 158,646,781 (+)Ensembl
Ensembl Acc Id: ENST00000472383   ⟹   ENSP00000420272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,684,631 - 158,691,899 (+)Ensembl
Ensembl Acc Id: ENST00000477721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,681,988 - 158,690,586 (+)Ensembl
Ensembl Acc Id: ENST00000478251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,646,888 - 158,651,020 (+)Ensembl
Ensembl Acc Id: ENST00000478254   ⟹   ENSP00000417225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,644,528 - 158,692,572 (+)Ensembl
Ensembl Acc Id: ENST00000478576   ⟹   ENSP00000418755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,644,528 - 158,682,433 (+)Ensembl
Ensembl Acc Id: ENST00000481468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,682,107 - 158,685,314 (+)Ensembl
Ensembl Acc Id: ENST00000486715   ⟹   ENSP00000419038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,644,527 - 158,695,581 (+)Ensembl
Ensembl Acc Id: ENST00000490261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3158,660,264 - 158,665,407 (+)Ensembl
RefSeq Acc Id: NM_001308164   ⟹   NP_001295093
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,695,581 (+)NCBI
CHM1_13158,325,291 - 158,373,337 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,469,504 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001308166   ⟹   NP_001295095
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,682,433 (+)NCBI
CHM1_13158,325,291 - 158,363,193 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,456,356 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374355   ⟹   NP_001361284
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374356   ⟹   NP_001361285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374357   ⟹   NP_001361286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374358   ⟹   NP_001361287
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374359   ⟹   NP_001361288
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374360   ⟹   NP_001361289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374361   ⟹   NP_001361290
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024996   ⟹   NP_079272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,695,581 (+)NCBI
GRCh373158,362,286 - 158,410,361 (+)NCBI
Build 363159,845,011 - 159,893,055 (+)NCBI Archive
HuRef3155,758,163 - 155,806,206 (+)ENTREZGENE
CHM1_13158,325,291 - 158,373,337 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,469,504 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164499
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164500
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164501
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164502
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,527 - 158,692,572 (+)NCBI
T2T-CHM13v2.03161,418,448 - 161,466,495 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001295093 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361284 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361285 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361286 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361287 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361288 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361289 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361290 (Get FASTA)   NCBI Sequence Viewer  
  NP_079272 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH49210 (Get FASTA)   NCBI Sequence Viewer  
  AAK53402 (Get FASTA)   NCBI Sequence Viewer  
  AAK58877 (Get FASTA)   NCBI Sequence Viewer  
  ADP90694 (Get FASTA)   NCBI Sequence Viewer  
  ADP90695 (Get FASTA)   NCBI Sequence Viewer  
  ADP90696 (Get FASTA)   NCBI Sequence Viewer  
  ADP90697 (Get FASTA)   NCBI Sequence Viewer  
  ADP90698 (Get FASTA)   NCBI Sequence Viewer  
  ADP90699 (Get FASTA)   NCBI Sequence Viewer  
  ADP90700 (Get FASTA)   NCBI Sequence Viewer  
  ADP90701 (Get FASTA)   NCBI Sequence Viewer  
  ADP90702 (Get FASTA)   NCBI Sequence Viewer  
  ADP90703 (Get FASTA)   NCBI Sequence Viewer  
  ADP90704 (Get FASTA)   NCBI Sequence Viewer  
  ADP90705 (Get FASTA)   NCBI Sequence Viewer  
  ADP90706 (Get FASTA)   NCBI Sequence Viewer  
  ADP90707 (Get FASTA)   NCBI Sequence Viewer  
  ADP90708 (Get FASTA)   NCBI Sequence Viewer  
  ADP90709 (Get FASTA)   NCBI Sequence Viewer  
  ADP90710 (Get FASTA)   NCBI Sequence Viewer  
  ADP90711 (Get FASTA)   NCBI Sequence Viewer  
  ADP90712 (Get FASTA)   NCBI Sequence Viewer  
  ADP90713 (Get FASTA)   NCBI Sequence Viewer  
  ADP90714 (Get FASTA)   NCBI Sequence Viewer  
  ADP90715 (Get FASTA)   NCBI Sequence Viewer  
  ADP90716 (Get FASTA)   NCBI Sequence Viewer  
  ADP90717 (Get FASTA)   NCBI Sequence Viewer  
  ADP90718 (Get FASTA)   NCBI Sequence Viewer  
  ADP90719 (Get FASTA)   NCBI Sequence Viewer  
  ADP90720 (Get FASTA)   NCBI Sequence Viewer  
  ADP90721 (Get FASTA)   NCBI Sequence Viewer  
  ADP90722 (Get FASTA)   NCBI Sequence Viewer  
  ADP90723 (Get FASTA)   NCBI Sequence Viewer  
  ADP90724 (Get FASTA)   NCBI Sequence Viewer  
  ADP90725 (Get FASTA)   NCBI Sequence Viewer  
  ADP90726 (Get FASTA)   NCBI Sequence Viewer  
  ADP90727 (Get FASTA)   NCBI Sequence Viewer  
  ADP90728 (Get FASTA)   NCBI Sequence Viewer  
  ADP90729 (Get FASTA)   NCBI Sequence Viewer  
  ADP90730 (Get FASTA)   NCBI Sequence Viewer  
  ADP90731 (Get FASTA)   NCBI Sequence Viewer  
  ADP90732 (Get FASTA)   NCBI Sequence Viewer  
  ADP90733 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34274 (Get FASTA)   NCBI Sequence Viewer  
  ALQ34275 (Get FASTA)   NCBI Sequence Viewer  
  BAB14205 (Get FASTA)   NCBI Sequence Viewer  
  BAG37516 (Get FASTA)   NCBI Sequence Viewer  
  BAG52523 (Get FASTA)   NCBI Sequence Viewer  
  EAW78677 (Get FASTA)   NCBI Sequence Viewer  
  EAW78678 (Get FASTA)   NCBI Sequence Viewer  
  EAW78679 (Get FASTA)   NCBI Sequence Viewer  
  EAW78680 (Get FASTA)   NCBI Sequence Viewer  
  EAW78681 (Get FASTA)   NCBI Sequence Viewer  
  EAW78682 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264263
  ENSP00000264263.5
  ENSP00000417225.1
  ENSP00000417532.1
  ENSP00000418755
  ENSP00000418755.1
  ENSP00000419038
  ENSP00000419038.1
  ENSP00000420272.1
GenBank Protein Q96RP9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079272   ⟸   NM_024996
- Peptide Label: isoform 2
- UniProtKB: Q6GTN2 (UniProtKB/Swiss-Prot),   B3KRW1 (UniProtKB/Swiss-Prot),   B2RCB9 (UniProtKB/Swiss-Prot),   A6NCI9 (UniProtKB/Swiss-Prot),   Q96T39 (UniProtKB/Swiss-Prot),   Q96RP9 (UniProtKB/Swiss-Prot),   E5KND5 (UniProtKB/TrEMBL),   E5KND7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295093   ⟸   NM_001308164
- Peptide Label: isoform 1
- UniProtKB: E5KND7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295095   ⟸   NM_001308166
- Peptide Label: isoform 3
- UniProtKB: C9IZ01 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001361286   ⟸   NM_001374357
- Peptide Label: isoform 6
- UniProtKB: E5KND7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361284   ⟸   NM_001374355
- Peptide Label: isoform 4
- UniProtKB: E5KND7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361285   ⟸   NM_001374356
- Peptide Label: isoform 5
- UniProtKB: E5KND7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001361288   ⟸   NM_001374359
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001361289   ⟸   NM_001374360
- Peptide Label: isoform 9
RefSeq Acc Id: NP_001361290   ⟸   NM_001374361
- Peptide Label: isoform 10
RefSeq Acc Id: NP_001361287   ⟸   NM_001374358
- Peptide Label: isoform 7
Ensembl Acc Id: ENSP00000417532   ⟸   ENST00000464732
Ensembl Acc Id: ENSP00000417225   ⟸   ENST00000478254
Ensembl Acc Id: ENSP00000418755   ⟸   ENST00000478576
Ensembl Acc Id: ENSP00000420272   ⟸   ENST00000472383
Ensembl Acc Id: ENSP00000419038   ⟸   ENST00000486715
Ensembl Acc Id: ENSP00000264263   ⟸   ENST00000264263
Protein Domains
tr-type G

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RP9-F1-model_v2 AlphaFold Q96RP9 1-751 view protein structure

Promoters
RGD ID:6866118
Promoter ID:EPDNEW_H6224
Type:initiation region
Name:GFM1_1
Description:G elongation factor mitochondrial 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6223  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383158,644,584 - 158,644,644EPDNEW
RGD ID:6800898
Promoter ID:HG_KWN:46567
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:ENST00000264263,   ENST00000312756,   UC003FCD.2,   UC003FCF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363159,844,846 - 159,845,346 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13780 AgrOrtholog
COSMIC GFM1 COSMIC
Ensembl Genes ENSG00000168827 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264263 ENTREZGENE
  ENST00000264263.9 UniProtKB/Swiss-Prot
  ENST00000464732.1 UniProtKB/TrEMBL
  ENST00000472383.1 UniProtKB/TrEMBL
  ENST00000478254 ENTREZGENE
  ENST00000478254.5 UniProtKB/TrEMBL
  ENST00000478576 ENTREZGENE
  ENST00000478576.5 UniProtKB/TrEMBL
  ENST00000486715 ENTREZGENE
  ENST00000486715.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.230.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.240 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Elongation Factor G (Translational Gtpase), domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translation factors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168827 GTEx
HGNC ID HGNC:13780 ENTREZGENE
Human Proteome Map GFM1 Human Proteome Map
InterPro EFG_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_III/V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_V-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFTu-like_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_TR_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S5_D2-typ_fold_subgr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_B-barrel_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_elong_EFG/EF2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transl_elong_EFG/EF2_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:85476 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 85476 ENTREZGENE
OMIM 606639 OMIM
PANTHER ELONGATION FACTOR G, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR43636 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EFG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTP_EFTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GTP_EFTU_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134971637 PharmGKB
PRINTS ELONGATNFCT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_TR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_TR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFG_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EFG_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54211 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5W5_HUMAN UniProtKB/TrEMBL
  A6NCI9 ENTREZGENE
  B2RCB9 ENTREZGENE
  B3KRW1 ENTREZGENE
  C9IZ01 ENTREZGENE, UniProtKB/TrEMBL
  C9JA25_HUMAN UniProtKB/TrEMBL
  E5KND5 ENTREZGENE, UniProtKB/TrEMBL
  E5KND7 ENTREZGENE, UniProtKB/TrEMBL
  EFGM_HUMAN UniProtKB/Swiss-Prot
  F8WAU4_HUMAN UniProtKB/TrEMBL
  H7C5M4_HUMAN UniProtKB/TrEMBL
  Q6GTN2 ENTREZGENE
  Q96RP9 ENTREZGENE
  Q96T39 ENTREZGENE
UniProt Secondary A6NCI9 UniProtKB/Swiss-Prot
  B2RCB9 UniProtKB/Swiss-Prot
  B3KRW1 UniProtKB/Swiss-Prot
  Q6GTN2 UniProtKB/Swiss-Prot
  Q96T39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 GFM1  G elongation factor mitochondrial 1  GFM1  G elongation factor, mitochondrial 1  Symbol and/or name change 5135510 APPROVED