IBA57 (iron-sulfur cluster assembly factor IBA57) - Rat Genome Database

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Gene: IBA57 (iron-sulfur cluster assembly factor IBA57) Homo sapiens
Analyze
Symbol: IBA57
Name: iron-sulfur cluster assembly factor IBA57
RGD ID: 1606941
HGNC Page HGNC:27302
Description: Enables RNA binding activity. Predicted to be involved in iron-sulfur cluster assembly. Located in mitochondrion. Implicated in hereditary spastic paraplegia 74 and multiple mitochondrial dysfunctions syndrome 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C1orf69; FLJ12734; FLJ13849; IBA57 homolog, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly; IBA57, iron-sulfur cluster assembly homolog; iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa; iron-sulfur cluster assembly factor homolog; MMDS3; putative transferase C1orf69, mitochondrial; putative transferase CAF17, mitochondrial; SPG74
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
GRCh381228,165,804 - 228,182,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,165,804 - 228,182,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,353,505 - 228,369,958 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,420,139 - 226,436,581 (+)NCBINCBI36Build 36hg18NCBI36
Celera1201,543,670 - 201,559,968 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,868,404 - 198,884,736 (+)NCBIHuRef
CHM1_11229,625,750 - 229,642,264 (+)NCBICHM1_1
T2T-CHM13v2.01227,354,800 - 227,371,041 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Beta-aminoisobutyric aciduria  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral white matter atrophy  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Decreased Achilles reflex  (IAGP)
Decreased activity of mitochondrial complex I  (IAGP)
Decreased activity of mitochondrial complex II  (IAGP)
Developmental regression  (IAGP)
Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal peripheral sensory neuropathy  (IAGP)
Distal sensory impairment  (IAGP)
Elevated brain choline level by MRS  (IAGP)
Elevated lactate:pyruvate ratio  (IAGP)
EMG: neuropathic changes  (IAGP)
Encephalopathy  (IAGP)
Feeding difficulties  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized muscle weakness  (IAGP)
High palate  (IAGP)
Hyperactive patellar reflex  (IAGP)
Hyperglycinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Increased CSF glycine concentration  (IAGP)
Increased CSF lactate  (IAGP)
Intrauterine growth retardation  (IAGP)
Irritability  (IAGP)
Juvenile onset  (IAGP)
Lactic acidosis  (IAGP)
Leukodystrophy  (IAGP)
Metabolic acidosis  (IAGP)
Microcephaly  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Parathyroid carcinoma  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes cavus  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Progressive  (IAGP)
Progressive spastic paraplegia  (IAGP)
Recurrent fever  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Slowly progressive  (IAGP)
Spastic paraplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Ventriculomegaly  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery. Maio N and Rouault TA, Biochim Biophys Acta. 2015 Jun;1853(6):1493-512. doi: 10.1016/j.bbamcr.2014.09.009. Epub 2014 Sep 19.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:14702039   PMID:15146197   PMID:16710414   PMID:19656490   PMID:20301682   PMID:20877624   PMID:21873635   PMID:22114354   PMID:22323289   PMID:22681889   PMID:23462291   PMID:25609768  
PMID:25971455   PMID:26186194   PMID:26344197   PMID:26760575   PMID:27499296   PMID:27785568   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28671726   PMID:29111377   PMID:29564676  
PMID:29568061   PMID:30258207   PMID:31056398   PMID:31091453   PMID:31617661   PMID:31796584   PMID:31831856   PMID:32628020   PMID:32877691   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34373451   PMID:34800366   PMID:35256949   PMID:35546148   PMID:35563538   PMID:35944360   PMID:36215168   PMID:36369321   PMID:36758106   PMID:36898370   PMID:36929488   PMID:37827155  
PMID:38113892  


Genomics

Comparative Map Data
IBA57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,165,804 - 228,182,257 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,165,804 - 228,182,257 (+)EnsemblGRCh38hg38GRCh38
GRCh371228,353,505 - 228,369,958 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,420,139 - 226,436,581 (+)NCBINCBI36Build 36hg18NCBI36
Celera1201,543,670 - 201,559,968 (+)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,868,404 - 198,884,736 (+)NCBIHuRef
CHM1_11229,625,750 - 229,642,264 (+)NCBICHM1_1
T2T-CHM13v2.01227,354,800 - 227,371,041 (+)NCBIT2T-CHM13v2.0
Iba57
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,046,194 - 59,055,391 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,046,195 - 59,054,565 (-)EnsemblGRCm39 Ensembl
GRCm381159,155,368 - 59,164,567 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,155,369 - 59,163,739 (-)EnsemblGRCm38mm10GRCm38
MGSCv371158,968,871 - 58,977,244 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361158,973,628 - 58,979,934 (-)NCBIMGSCv36mm8
Celera1163,920,293 - 63,928,657 (-)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1136.97NCBI
Iba57
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,441,579 - 44,450,368 (-)NCBIGRCr8
mRatBN7.21043,942,017 - 43,950,807 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,942,017 - 43,950,807 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,635,836 - 48,644,626 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,126,182 - 48,134,984 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,629,787 - 43,638,581 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,506,124 - 45,514,909 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,504,504 - 45,514,878 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,262,185 - 45,270,970 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,460,359 - 45,468,258 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1043,205,311 - 43,214,095 (-)NCBICelera
Cytogenetic Map10q22NCBI
Iba57
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955581286,121 - 289,139 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955581284,488 - 289,225 (-)NCBIChiLan1.0ChiLan1.0
IBA57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,422,975 - 21,441,976 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,361,152 - 21,379,283 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,566,902 - 203,577,857 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,779,281 - 208,788,989 (+)NCBIpanpan1.1PanPan1.1panPan2
IBA57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114799,540 - 804,191 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14800,294 - 801,811 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14346,341 - 351,480 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014520,581 - 525,721 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14520,584 - 525,721 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114711,400 - 716,539 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014492,267 - 497,374 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014478,097 - 483,236 (-)NCBIUU_Cfam_GSD_1.0
Iba57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,708,757 - 87,722,258 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493686449,889 - 63,481 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493686450,033 - 63,540 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IBA57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,276,335 - 51,293,544 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,276,352 - 51,287,572 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,824,583 - 53,835,808 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IBA57
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,531,030 - 1,563,180 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660551,410,077 - 1,443,212 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Iba57
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624937908,235 - 914,229 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624937908,216 - 914,229 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IBA57
220 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001010867.4(IBA57):c.697C>T (p.Arg233Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656685] Chr1:228175139 [GRCh38]
Chr1:228362840 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.940C>T (p.Gln314Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656687] Chr1:228175382 [GRCh38]
Chr1:228363083 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656684]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001309858] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001010867.4(IBA57):c.286T>C (p.Tyr96His) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656683] Chr1:228166102 [GRCh38]
Chr1:228353803 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656686] Chr1:228166139 [GRCh38]
Chr1:228353840 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.941A>C (p.Gln314Pro) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000050221] Chr1:228175383 [GRCh38]
Chr1:228363084 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
NM_001010867.4(IBA57):c.678A>G (p.Gln226=) single nucleotide variant Hereditary spastic paraplegia 74 [RCV000185609] Chr1:228175028 [GRCh38]
Chr1:228362729 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001010867.4(IBA57):c.342-14C>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002186090] Chr1:228174678 [GRCh38]
Chr1:228362379 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.436C>T (p.Arg146Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656679]|not provided [RCV000676867] Chr1:228174786 [GRCh38]
Chr1:228362487 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
GRCh38/hg38 1q42.13(chr1:228148416-228372055)x1 copy number loss Breast ductal adenocarcinoma [RCV000207146] Chr1:228148416..228372055 [GRCh38]
Chr1:228336115..228559754 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.801C>T (p.Ala267=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000544429]|not specified [RCV000608735] Chr1:228175243 [GRCh38]
Chr1:228362944 [GRCh37]
Chr1:1q42.13		 likely benign
Single allele complex Breast ductal adenocarcinoma [RCV000207145] Chr1:228353651..228547901 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
NM_001010867.4(IBA57):c.833G>T (p.Arg278Leu) single nucleotide variant not provided [RCV000489171] Chr1:228175275 [GRCh38]
Chr1:228362976 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.337T>C (p.Tyr113His) single nucleotide variant not provided [RCV000489793] Chr1:228166153 [GRCh38]
Chr1:228353854 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1032C>T (p.Ala344=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002064264]|not provided [RCV001698097] Chr1:228175474 [GRCh38]
Chr1:228363175 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.150C>A (p.Cys50Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656688] Chr1:228165966 [GRCh38]
Chr1:228353667 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.586T>G (p.Trp196Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656680] Chr1:228174936 [GRCh38]
Chr1:228362637 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000626148]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002529780] Chr1:228166129 [GRCh38]
Chr1:228353830 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.283_284delinsAT (p.Gly95Ile) indel not provided [RCV000734687] Chr1:228166099..228166100 [GRCh38]
Chr1:228353800..228353801 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.744C>T (p.Ala248=) single nucleotide variant not provided [RCV000729112] Chr1:228175186 [GRCh38]
Chr1:228362887 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001702372]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001515779]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001702643]|not provided [RCV000676864]|not specified [RCV000431176] Chr1:228165950 [GRCh38]
Chr1:228353651 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.*19G>A single nucleotide variant not specified [RCV000421416] Chr1:228175532 [GRCh38]
Chr1:228363233 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.471G>A (p.Leu157=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002522366]|not specified [RCV000438774] Chr1:228174821 [GRCh38]
Chr1:228362522 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.264C>G (p.Ala88=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000533079]|not specified [RCV000442426] Chr1:228166080 [GRCh38]
Chr1:228353781 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.300G>C (p.Leu100=) single nucleotide variant not specified [RCV000439088] Chr1:228166116 [GRCh38]
Chr1:228353817 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001702443]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001515780]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001702642]|not provided [RCV000676869]|not specified [RCV000439267] Chr1:228174981 [GRCh38]
Chr1:228362682 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.204C>T (p.Pro68=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002059640]|not specified [RCV000439384] Chr1:228166020 [GRCh38]
Chr1:228353721 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.162C>T (p.Asp54=) single nucleotide variant IBA57-related disorder [RCV003922784]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002062780]|not specified [RCV000420251] Chr1:228165978 [GRCh38]
Chr1:228353679 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.462C>T (p.His154=) single nucleotide variant IBA57-related disorder [RCV003912668]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000651563]|not specified [RCV000420503] Chr1:228174812 [GRCh38]
Chr1:228362513 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001010867.4(IBA57):c.664C>G (p.His222Asp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002527082]|not provided [RCV000493963] Chr1:228175014 [GRCh38]
Chr1:228362715 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001010867.4(IBA57):c.947A>C (p.Asn316Thr) single nucleotide variant IBA57-related disorder [RCV003935512]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001424671] Chr1:228175389 [GRCh38]
Chr1:228363090 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.422C>T (p.Ala141Val) single nucleotide variant Inborn genetic diseases [RCV003274765] Chr1:228174772 [GRCh38]
Chr1:228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.686C>T (p.Pro229Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656681] Chr1:228175128 [GRCh38]
Chr1:228362829 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.706C>T (p.Pro236Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000656682] Chr1:228175148 [GRCh38]
Chr1:228362849 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.335T>G (p.Leu112Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651559]|not provided [RCV003225108] Chr1:228166151 [GRCh38]
Chr1:228353852 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.206T>C (p.Phe69Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651560] Chr1:228166022 [GRCh38]
Chr1:228353723 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.645C>T (p.Asp215=) single nucleotide variant IBA57-related disorder [RCV003905764]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001089105]|not provided [RCV000842128] Chr1:228174995 [GRCh38]
Chr1:228362696 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.961C>T (p.Leu321=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000651562] Chr1:228175403 [GRCh38]
Chr1:228363104 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.780C>T (p.Tyr260=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000875295]|not provided [RCV001697447] Chr1:228175222 [GRCh38]
Chr1:228362923 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.3(IBA57):c.-45dup duplication not specified [RCV000602569] Chr1:228165768..228165769 [GRCh38]
Chr1:228353469..228353470 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.-9T>G single nucleotide variant not specified [RCV000613941] Chr1:228165808 [GRCh38]
Chr1:228353509 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.589C>T (p.Arg197Trp) single nucleotide variant Inborn genetic diseases [RCV000623253]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001860449] Chr1:228174939 [GRCh38]
Chr1:228362640 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.706C>G (p.Pro236Ala) single nucleotide variant Inborn genetic diseases [RCV000623635]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001855309]|not provided [RCV001584452] Chr1:228175148 [GRCh38]
Chr1:228362849 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile) single nucleotide variant Inborn genetic diseases [RCV002531381]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000821689]|not provided [RCV000676868] Chr1:228174949 [GRCh38]
Chr1:228362650 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002532983]|not specified [RCV000714872] Chr1:228166121 [GRCh38]
Chr1:228353822 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001088636]|not provided [RCV000676870] Chr1:228175422 [GRCh38]
Chr1:228363123 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV000676865] Chr1:228166008 [GRCh38]
Chr1:228353709 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001087470]|not provided [RCV000676866] Chr1:228166026 [GRCh38]
Chr1:228353727 [GRCh37]
Chr1:1q42.13		 benign|likely benign
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.354C>A (p.His118Gln) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000702984] Chr1:228174704 [GRCh38]
Chr1:228362405 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.215G>C (p.Gly72Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000696559] Chr1:228166031 [GRCh38]
Chr1:228353732 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1033G>A (p.Ala345Thr) single nucleotide variant Inborn genetic diseases [RCV002532264]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000694436]|not provided [RCV003442033] Chr1:228175475 [GRCh38]
Chr1:228363176 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228402121)x3 copy number gain not provided [RCV000736888] Chr1:228336130..228402121 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228336130-228404818)x3 copy number gain not provided [RCV000736889] Chr1:228336130..228404818 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.837C>T (p.Leu279=) single nucleotide variant not provided [RCV000939278] Chr1:228175279 [GRCh38]
Chr1:228362980 [GRCh37]
Chr1:1q42.13		 likely benign
NC_000001.11:g.228165590G>A single nucleotide variant not provided [RCV001569735] Chr1:228165590 [GRCh38]
Chr1:228353291 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
NC_000001.11:g.228165437T>C single nucleotide variant not provided [RCV001570434] Chr1:228165437 [GRCh38]
Chr1:228353138 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.955C>T (p.Leu319=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002542060] Chr1:228175397 [GRCh38]
Chr1:228363098 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.150C>T (p.Cys50=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000878755]|not provided [RCV001815453] Chr1:228165966 [GRCh38]
Chr1:228353667 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.639C>T (p.Leu213=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002065990] Chr1:228174989 [GRCh38]
Chr1:228362690 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.420C>T (p.Leu140=) single nucleotide variant not provided [RCV000983098] Chr1:228174770 [GRCh38]
Chr1:228362471 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.342-7C>A single nucleotide variant IBA57-related disorder [RCV003948241]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001521029]|not provided [RCV000875930] Chr1:228174685 [GRCh38]
Chr1:228362386 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.384dup (p.Asp129Ter) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV000818206] Chr1:228174733..228174734 [GRCh38]
Chr1:228362434..228362435 [GRCh37]
Chr1:1q42.13		 pathogenic|uncertain significance
NM_001010867.4(IBA57):c.420C>G (p.Leu140=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002544955]|not provided [RCV003886452] Chr1:228174770 [GRCh38]
Chr1:228362471 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.680-5T>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000875016]|not provided [RCV001731964] Chr1:228175117 [GRCh38]
Chr1:228362818 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.246T>A (p.Ser82Arg) single nucleotide variant Inborn genetic diseases [RCV003243615] Chr1:228166062 [GRCh38]
Chr1:228353763 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.262G>A (p.Ala88Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000811275] Chr1:228166078 [GRCh38]
Chr1:228353779 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.259G>A (p.Gly87Arg) single nucleotide variant Inborn genetic diseases [RCV004027415]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000792326]|not provided [RCV003480820] Chr1:228166075 [GRCh38]
Chr1:228353776 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.279C>G (p.Arg93=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001517380]|not provided [RCV000842672] Chr1:228166095 [GRCh38]
Chr1:228353796 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.11C>T (p.Ala4Val) single nucleotide variant Inborn genetic diseases [RCV002537243]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000807128]|not provided [RCV001726334] Chr1:228165827 [GRCh38]
Chr1:228353528 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.989C>G (p.Pro330Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001043863] Chr1:228175431 [GRCh38]
Chr1:228363132 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.85T>G (p.Cys29Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV000820403] Chr1:228165901 [GRCh38]
Chr1:228353602 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-180C>G single nucleotide variant not provided [RCV000844417] Chr1:228174512 [GRCh38]
Chr1:228362213 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.156G>A (p.Arg52=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001417588] Chr1:228165972 [GRCh38]
Chr1:228353673 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.449C>T (p.Thr150Met) single nucleotide variant not provided [RCV003239100] Chr1:228174799 [GRCh38]
Chr1:228362500 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
NM_001010867.4(IBA57):c.625_650del (p.Pro209fs) deletion not provided [RCV001008149] Chr1:228174972..228174997 [GRCh38]
Chr1:228362673..228362698 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.589_590del (p.Arg197fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV001249201] Chr1:228174938..228174939 [GRCh38]
Chr1:228362639..228362640 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
NM_001010867.4(IBA57):c.560G>A (p.Arg187His) single nucleotide variant not specified [RCV003230938] Chr1:228174910 [GRCh38]
Chr1:228362611 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.535G>T (p.Ala179Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003106447] Chr1:228174885 [GRCh38]
Chr1:228362586 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.*31G>A single nucleotide variant not provided [RCV001580992] Chr1:228175544 [GRCh38]
Chr1:228363245 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.*3C>T single nucleotide variant not provided [RCV001594251] Chr1:228175516 [GRCh38]
Chr1:228363217 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.307C>T (p.Gln103Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002569041]|not provided [RCV001568023] Chr1:228166123 [GRCh38]
Chr1:228353824 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.930C>G (p.Phe310Leu) single nucleotide variant IBA57-related disorder [RCV003967946]|Multiple mitochondrial dysfunctions syndrome 3 [RCV000877922] Chr1:228175372 [GRCh38]
Chr1:228363073 [GRCh37]
Chr1:1q42.13		 benign|likely benign
NM_001010867.4(IBA57):c.82A>G (p.Arg28Gly) single nucleotide variant Inborn genetic diseases [RCV003308215]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002681102] Chr1:228165898 [GRCh38]
Chr1:228353599 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.292del (p.His98fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV002470401] Chr1:228166106 [GRCh38]
Chr1:228353807 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.342-29G>A single nucleotide variant not provided [RCV001558772] Chr1:228174663 [GRCh38]
Chr1:228362364 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.257_260del (p.Ala86fs) deletion not provided [RCV001008623] Chr1:228166072..228166075 [GRCh38]
Chr1:228353773..228353776 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.923G>T (p.Gly308Val) single nucleotide variant Microcephaly [RCV001252738] Chr1:228175365 [GRCh38]
Chr1:228363066 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NM_001010867.4(IBA57):c.599C>G (p.Thr200Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001070459] Chr1:228174949 [GRCh38]
Chr1:228362650 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+1G>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001219724] Chr1:228166158 [GRCh38]
Chr1:228353859 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.190C>A (p.Pro64Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001046920] Chr1:228166006 [GRCh38]
Chr1:228353707 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.893C>T (p.Thr298Met) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001206297] Chr1:228175335 [GRCh38]
Chr1:228363036 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_228345440)_(228363234_?)dup duplication Spastic paraplegia [RCV001314891] Chr1:228345440..228363234 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.827G>A (p.Arg276His) single nucleotide variant Inborn genetic diseases [RCV003169577]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001337068]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001871897] Chr1:228175269 [GRCh38]
Chr1:228362970 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.577C>T (p.Arg193Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001371706] Chr1:228174927 [GRCh38]
Chr1:228362628 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.434T>C (p.Ile145Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001322115] Chr1:228174784 [GRCh38]
Chr1:228362485 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.748A>G (p.Met250Val) single nucleotide variant Inborn genetic diseases [RCV003166703]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001302426]|not provided [RCV001574468] Chr1:228175190 [GRCh38]
Chr1:228362891 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.232C>G (p.Leu78Val) single nucleotide variant Hereditary spastic paraplegia 74 [RCV001329484] Chr1:228166048 [GRCh38]
Chr1:228353749 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.732G>A (p.Glu244=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001337067] Chr1:228175174 [GRCh38]
Chr1:228362875 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.574G>A (p.Ala192Thr) single nucleotide variant Inborn genetic diseases [RCV004035954]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001340962]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002221275]|not provided [RCV002245968] Chr1:228174924 [GRCh38]
Chr1:228362625 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+4A>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001305769]|not provided [RCV001760362] Chr1:228166161 [GRCh38]
Chr1:228353862 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.266C>T (p.Pro89Leu) single nucleotide variant Inborn genetic diseases [RCV002546804]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001337066]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001871896] Chr1:228166082 [GRCh38]
Chr1:228353783 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1033G>T (p.Ala345Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002564200]|not provided [RCV001507534] Chr1:228175475 [GRCh38]
Chr1:228363176 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.285C>T (p.Gly95=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001462154] Chr1:228166101 [GRCh38]
Chr1:228353802 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.768C>T (p.Thr256=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001480601] Chr1:228175210 [GRCh38]
Chr1:228362911 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.341+1G>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001379031] Chr1:228166158 [GRCh38]
Chr1:228353859 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.114T>C (p.Pro38=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001491827] Chr1:228165930 [GRCh38]
Chr1:228353631 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.724C>T (p.Pro242Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002251023] Chr1:228175166 [GRCh38]
Chr1:228362867 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.265_286dup (p.Tyr96fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001386814] Chr1:228166080..228166081 [GRCh38]
Chr1:228353781..228353782 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.342-87G>A single nucleotide variant not provided [RCV001709339] Chr1:228174605 [GRCh38]
Chr1:228362306 [GRCh37]
Chr1:1q42.13		 benign
NM_001010867.4(IBA57):c.679+3A>G single nucleotide variant Hereditary spastic paraplegia 74 [RCV001726527]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001865866]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003339628]|not provided [RCV003130512] Chr1:228175032 [GRCh38]
Chr1:228362733 [GRCh37]
Chr1:1q42.13		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001010867.4(IBA57):c.262dup (p.Ala88fs) duplication Hereditary spastic paraplegia 74 [RCV001726528]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002550197] Chr1:228166073..228166074 [GRCh38]
Chr1:228353774..228353775 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.346C>T (p.Gln116Ter) single nucleotide variant not provided [RCV001783452] Chr1:228174696 [GRCh38]
Chr1:228362397 [GRCh37]
Chr1:1q42.13		 pathogenic
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.894G>A (p.Thr298=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001910027] Chr1:228175336 [GRCh38]
Chr1:228363037 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.766A>T (p.Thr256Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001910248] Chr1:228175208 [GRCh38]
Chr1:228362909 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.682G>C (p.Val228Leu) single nucleotide variant Inborn genetic diseases [RCV002552330]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001895372] Chr1:228175124 [GRCh38]
Chr1:228362825 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.866C>T (p.Pro289Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002044397] Chr1:228175308 [GRCh38]
Chr1:228363009 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.89G>A (p.Arg30His) single nucleotide variant Inborn genetic diseases [RCV002545585]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002023142] Chr1:228165905 [GRCh38]
Chr1:228353606 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NM_001010867.4(IBA57):c.316del (p.Thr106fs) deletion IBA57-related disorder [RCV003416582]|Inborn genetic diseases [RCV002555742]|Multiple mitochondrial dysfunctions syndrome 3 [RCV001913432]|not provided [RCV003146341] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 pathogenic|likely pathogenic
NM_001010867.4(IBA57):c.335T>A (p.Leu112Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001903204] Chr1:228166151 [GRCh38]
Chr1:228353852 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.305T>C (p.Val102Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001900919] Chr1:228166121 [GRCh38]
Chr1:228353822 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.488T>C (p.Leu163Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002034376] Chr1:228174838 [GRCh38]
Chr1:228362539 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.566C>T (p.Pro189Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001922331]|not provided [RCV003164290] Chr1:228174916 [GRCh38]
Chr1:228362617 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.304G>C (p.Val102Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001899295] Chr1:228166120 [GRCh38]
Chr1:228353821 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.227A>G (p.Asn76Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001881741] Chr1:228166043 [GRCh38]
Chr1:228353744 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV002545516]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002009571]|not provided [RCV004691487] Chr1:228165839 [GRCh38]
Chr1:228353540 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.272C>G (p.Ala91Gly) single nucleotide variant Hereditary spastic paraplegia 74 [RCV003147733]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002015857] Chr1:228166088 [GRCh38]
Chr1:228353789 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.421_422delinsAG (p.Ala141Arg) indel Multiple mitochondrial dysfunctions syndrome 3 [RCV001995936] Chr1:228174771..228174772 [GRCh38]
Chr1:228362472..228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 uncertain significance|no classifications from unflagged records
NM_001010867.4(IBA57):c.802C>T (p.Arg268Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002015501] Chr1:228175244 [GRCh38]
Chr1:228362945 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.932G>C (p.Arg311Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001878146] Chr1:228175374 [GRCh38]
Chr1:228363075 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.304G>A (p.Val102Met) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001917332] Chr1:228166120 [GRCh38]
Chr1:228353821 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.31A>T (p.Thr11Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV001920352] Chr1:228165847 [GRCh38]
Chr1:228353548 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1065del (p.Lys356fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV001907396] Chr1:228175506 [GRCh38]
Chr1:228363207 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.680-14T>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002113444] Chr1:228175108 [GRCh38]
Chr1:228362809 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.585G>A (p.Gly195=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002145484] Chr1:228174935 [GRCh38]
Chr1:228362636 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.138G>C (p.Ala46=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002133328] Chr1:228165954 [GRCh38]
Chr1:228353655 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.567G>T (p.Pro189=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002101022] Chr1:228174917 [GRCh38]
Chr1:228362618 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.298C>T (p.Leu100=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002118488] Chr1:228166114 [GRCh38]
Chr1:228353815 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.341+9G>A single nucleotide variant IBA57-related disorder [RCV003913783]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002101949] Chr1:228166166 [GRCh38]
Chr1:228353867 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.522G>A (p.Ser174=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003118774] Chr1:228174872 [GRCh38]
Chr1:228362573 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.696C>A (p.Val232=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003121542] Chr1:228175138 [GRCh38]
Chr1:228362839 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.695T>C (p.Val232Ala) single nucleotide variant not provided [RCV003236203] Chr1:228175137 [GRCh38]
Chr1:228362838 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001010867.4(IBA57):c.506C>T (p.Ala169Val) single nucleotide variant Inborn genetic diseases [RCV002569366]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002569367]|not provided [RCV002469784] Chr1:228174856 [GRCh38]
Chr1:228362557 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter) single nucleotide variant C1orf69/IBA57-related disorder [RCV002302474]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003098020] Chr1:228175355 [GRCh38]
Chr1:228363056 [GRCh37]
Chr1:1q42.13		 likely pathogenic|uncertain significance
NM_001010867.4(IBA57):c.-10C>G single nucleotide variant not specified [RCV002302475] Chr1:228165807 [GRCh38]
Chr1:228353508 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.245G>C (p.Ser82Thr) single nucleotide variant Inborn genetic diseases [RCV004065084]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002967727] Chr1:228166061 [GRCh38]
Chr1:228353762 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.193_203dup (p.Phe69fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV002727281] Chr1:228166006..228166007 [GRCh38]
Chr1:228353707..228353708 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.935del (p.Ala312fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV002995377] Chr1:228175377 [GRCh38]
Chr1:228363078 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.341+4A>C single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002863084] Chr1:228166161 [GRCh38]
Chr1:228353862 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.480_481dup (p.Ala161fs) duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV002972628] Chr1:228174828..228174829 [GRCh38]
Chr1:228362529..228362530 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.459G>A (p.Pro153=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002861769] Chr1:228174809 [GRCh38]
Chr1:228362510 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.979A>T (p.Ile327Phe) single nucleotide variant Inborn genetic diseases [RCV003340558]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002904560] Chr1:228175421 [GRCh38]
Chr1:228363122 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.316A>T (p.Thr106Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002971336] Chr1:228166132 [GRCh38]
Chr1:228353833 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.739C>T (p.Leu247=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002750785] Chr1:228175181 [GRCh38]
Chr1:228362882 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.1055C>T (p.Pro352Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002618738] Chr1:228175497 [GRCh38]
Chr1:228363198 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.402C>A (p.Gly134=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002795060] Chr1:228174752 [GRCh38]
Chr1:228362453 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.390C>G (p.Ser130Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002907956] Chr1:228174740 [GRCh38]
Chr1:228362441 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.208C>T (p.Leu70=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002816563] Chr1:228166024 [GRCh38]
Chr1:228353725 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.157C>T (p.Leu53=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002881957] Chr1:228165973 [GRCh38]
Chr1:228353674 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.970T>G (p.Ser324Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003013935] Chr1:228175412 [GRCh38]
Chr1:228363113 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.319C>T (p.Leu107Phe) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002617165] Chr1:228166135 [GRCh38]
Chr1:228353836 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.27C>T (p.Gly9=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002571615]|not provided [RCV002511614] Chr1:228165843 [GRCh38]
Chr1:228353544 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.550A>G (p.Ile184Val) single nucleotide variant Inborn genetic diseases [RCV002687065] Chr1:228174900 [GRCh38]
Chr1:228362601 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.493A>G (p.Ser165Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002882109] Chr1:228174843 [GRCh38]
Chr1:228362544 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.376C>T (p.Leu126=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002970774] Chr1:228174726 [GRCh38]
Chr1:228362427 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
NM_001010867.4(IBA57):c.825C>T (p.Ile275=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002614596] Chr1:228175267 [GRCh38]
Chr1:228362968 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
NM_001010867.4(IBA57):c.737A>G (p.Asn246Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002914055] Chr1:228175179 [GRCh38]
Chr1:228362880 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.147C>G (p.Ala49=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002592454] Chr1:228165963 [GRCh38]
Chr1:228353664 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.640G>A (p.Gly214Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003081318] Chr1:228174990 [GRCh38]
Chr1:228362691 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.584G>C (p.Gly195Ala) single nucleotide variant Inborn genetic diseases [RCV002912224] Chr1:228174934 [GRCh38]
Chr1:228362635 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.826C>T (p.Arg276Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002527167]|Multiple mitochondrial dysfunctions syndrome 3 [RCV003388584] Chr1:228175268 [GRCh38]
Chr1:228362969 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.753C>T (p.Asn251=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002638126] Chr1:228175195 [GRCh38]
Chr1:228362896 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.169A>G (p.Thr57Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002927419] Chr1:228165985 [GRCh38]
Chr1:228353686 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.7A>G (p.Thr3Ala) single nucleotide variant Inborn genetic diseases [RCV002783919] Chr1:228165823 [GRCh38]
Chr1:228353524 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.906C>G (p.Ala302=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002909861] Chr1:228175348 [GRCh38]
Chr1:228363049 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.109A>G (p.Ser37Gly) single nucleotide variant Inborn genetic diseases [RCV002910754] Chr1:228165925 [GRCh38]
Chr1:228353626 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.373C>T (p.Leu125Phe) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002619389] Chr1:228174723 [GRCh38]
Chr1:228362424 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.339C>T (p.Tyr113=) single nucleotide variant IBA57-related disorder [RCV003961128]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002761402] Chr1:228166155 [GRCh38]
Chr1:228353856 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.781A>C (p.Ile261Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002622690] Chr1:228175223 [GRCh38]
Chr1:228362924 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.74_75del (p.Ala25fs) microsatellite Multiple mitochondrial dysfunctions syndrome 3 [RCV002823949] Chr1:228165885..228165886 [GRCh38]
Chr1:228353586..228353587 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.116G>A (p.Gly39Asp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003021108] Chr1:228165932 [GRCh38]
Chr1:228353633 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-15C>T single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002926941] Chr1:228174677 [GRCh38]
Chr1:228362378 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.172C>G (p.Leu58Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003057644] Chr1:228165988 [GRCh38]
Chr1:228353689 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.285delinsTA (p.Tyr96fs) indel not provided [RCV003059923] Chr1:228166101 [GRCh38]
Chr1:228353802 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.680-11A>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002596437] Chr1:228175111 [GRCh38]
Chr1:228362812 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.465G>C (p.Pro155=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003082456] Chr1:228174815 [GRCh38]
Chr1:228362516 [GRCh37]
Chr1:1q42.13		 likely benign
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_001010867.4(IBA57):c.814A>G (p.Met272Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002786711] Chr1:228175256 [GRCh38]
Chr1:228362957 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.454G>T (p.Glu152Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002957904] Chr1:228174804 [GRCh38]
Chr1:228362505 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.341+20G>A single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003024253] Chr1:228166177 [GRCh38]
Chr1:228353878 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.693G>A (p.Gly231=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003082895] Chr1:228175135 [GRCh38]
Chr1:228362836 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.790G>A (p.Glu264Lys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003042427] Chr1:228175232 [GRCh38]
Chr1:228362933 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.537A>C (p.Ala179=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002711793] Chr1:228174887 [GRCh38]
Chr1:228362588 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.511G>C (p.Gly171Arg) single nucleotide variant Inborn genetic diseases [RCV002697784] Chr1:228174861 [GRCh38]
Chr1:228362562 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.143G>A (p.Trp48Ter) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002623548] Chr1:228165959 [GRCh38]
Chr1:228353660 [GRCh37]
Chr1:1q42.13		 pathogenic
NM_001010867.4(IBA57):c.326A>G (p.Asp109Gly) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002710865] Chr1:228166142 [GRCh38]
Chr1:228353843 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.26G>T (p.Gly9Val) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002642678] Chr1:228165842 [GRCh38]
Chr1:228353543 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.851T>C (p.Phe284Ser) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002632694] Chr1:228175293 [GRCh38]
Chr1:228362994 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.1041G>T (p.Val347=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002647336] Chr1:228175483 [GRCh38]
Chr1:228363184 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.668G>A (p.Arg223Gln) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003088921] Chr1:228175018 [GRCh38]
Chr1:228362719 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.720C>T (p.Ala240=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002627984] Chr1:228175162 [GRCh38]
Chr1:228362863 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.763T>C (p.Phe255Leu) single nucleotide variant Inborn genetic diseases [RCV002939904] Chr1:228175205 [GRCh38]
Chr1:228362906 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342-488_361del deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003047907] Chr1:228174203..228174710 [GRCh38]
Chr1:228361904..228362411 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.79C>A (p.Pro27Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002856820] Chr1:228165895 [GRCh38]
Chr1:228353596 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.253_276del (p.Ala85_Ala92del) deletion Inborn genetic diseases [RCV002937403]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002937404] Chr1:228166064..228166087 [GRCh38]
Chr1:228353765..228353788 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.439C>T (p.Arg147Trp) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002937942] Chr1:228174789 [GRCh38]
Chr1:228362490 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.323A>G (p.Tyr108Cys) single nucleotide variant Inborn genetic diseases [RCV003010907] Chr1:228166139 [GRCh38]
Chr1:228353840 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.342G>C (p.Gly114=) single nucleotide variant Inborn genetic diseases [RCV004632058]|Multiple mitochondrial dysfunctions syndrome 3 [RCV002717290] Chr1:228174692 [GRCh38]
Chr1:228362393 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.511G>A (p.Gly171Arg) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002599173] Chr1:228174861 [GRCh38]
Chr1:228362562 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.682G>A (p.Val228Ile) single nucleotide variant Inborn genetic diseases [RCV002677287] Chr1:228175124 [GRCh38]
Chr1:228362825 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.754G>A (p.Gly252Ser) single nucleotide variant not provided [RCV003131208] Chr1:228175196 [GRCh38]
Chr1:228362897 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.680-18C>G single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003071381] Chr1:228175104 [GRCh38]
Chr1:228362805 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.1042C>G (p.Pro348Ala) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003093104] Chr1:228175484 [GRCh38]
Chr1:228363185 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.494G>A (p.Ser165Asn) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003093309] Chr1:228174844 [GRCh38]
Chr1:228362545 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.269C>T (p.Pro90Leu) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003072038] Chr1:228166085 [GRCh38]
Chr1:228353786 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.94G>A (p.Ala32Thr) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002944218] Chr1:228165910 [GRCh38]
Chr1:228353611 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.54C>T (p.Val18=) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV002612356] Chr1:228165870 [GRCh38]
Chr1:228353571 [GRCh37]
Chr1:1q42.13		 likely benign
NM_001010867.4(IBA57):c.173T>C (p.Leu58Pro) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [RCV003066257] Chr1:228165989 [GRCh38]
Chr1:228353690 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.104C>T (p.Ser35Phe) single nucleotide variant Inborn genetic diseases [RCV004246002]|not provided [RCV003135712] Chr1:228165920 [GRCh38]
Chr1:228353621 [GRCh37]
Chr1:1q42.13		 likely benign|uncertain significance
NM_001010867.4(IBA57):c.578G>T (p.Arg193Leu) single nucleotide variant not provided [RCV003135713] Chr1:228174928 [GRCh38]
Chr1:228362629 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.121G>A (p.Asp41Asn) single nucleotide variant not provided [RCV003135714] Chr1:228165937 [GRCh38]
Chr1:228353638 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.212T>C (p.Leu71Pro) single nucleotide variant not provided [RCV003135715] Chr1:228166028 [GRCh38]
Chr1:228353729 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.931A>G (p.Arg311Gly) single nucleotide variant Hereditary spastic paraplegia 74 [RCV003340714] Chr1:228175373 [GRCh38]
Chr1:228363074 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.24del (p.Gly9fs) deletion Multiple mitochondrial dysfunctions syndrome 3 [RCV003338210] Chr1:228165840 [GRCh38]
Chr1:228353541 [GRCh37]
Chr1:1q42.13		 likely pathogenic
NM_001010867.4(IBA57):c.422C>G (p.Ala141Gly) single nucleotide variant Inborn genetic diseases [RCV003347322] Chr1:228174772 [GRCh38]
Chr1:228362473 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.421G>A (p.Ala141Thr) single nucleotide variant Inborn genetic diseases [RCV003347321] Chr1:228174771 [GRCh38]
Chr1:228362472 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.104C>A (p.Ser35Tyr) single nucleotide variant Inborn genetic diseases [RCV003354361] Chr1:228165920 [GRCh38]
Chr1:228353621 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys) single nucleotide variant Multiple mitochondrial dysfunctions syndrome 3 [