TBCD (tubulin folding cofactor D) - Rat Genome Database

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Gene: TBCD (tubulin folding cofactor D) Homo sapiens
Analyze
Symbol: TBCD
Name: tubulin folding cofactor D
RGD ID: 1317676
HGNC Page HGNC:11581
Description: Enables GTPase activator activity and beta-tubulin binding activity. Involved in several processes, including negative regulation of microtubule polymerization; post-chaperonin tubulin folding pathway; and tubulin complex assembly. Located in centrosome. Implicated in early onset progressive encephalopathy with brain atrophy and thin corpus callosum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-tubulin cofactor D; KIAA0988; PEBAT; SSD-1; tfcD; tubulin-folding cofactor D; tubulin-specific chaperone D
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
GRCh381782,752,065 - 82,945,914 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1782,752,042 - 82,945,914 (+)EnsemblGRCh38hg38GRCh38
GRCh371780,709,941 - 80,903,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361778,303,229 - 78,494,351 (+)NCBINCBI36Build 36hg18NCBI36
Build 341778,303,226 - 78,494,349NCBI
Celera1777,304,731 - 77,496,641 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1776,109,476 - 76,303,450 (+)NCBIHuRef
CHM1_11780,796,173 - 80,987,138 (+)NCBICHM1_1
T2T-CHM13v2.01783,626,412 - 83,817,896 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2-palmitoylglycerol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
GSK-J4  (EXP)
hydralazine  (EXP)
hypochlorous acid  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-ethyl-N-nitrosourea  (ISO)
ozone  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Absent smooth pursuit  (IAGP)
Absent speech  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ataxia  (IAGP)
Atrophy/Degeneration affecting the brainstem  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bowel incontinence  (IAGP)
Brisk reflexes  (IAGP)
Cataplexy  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral hypomyelination  (IAGP)
Chronic constipation  (IAGP)
CNS hypomyelination  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Deeply set eye  (IAGP)
Delayed speech and language development  (IAGP)
Developmental regression  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Encephalopathy  (IAGP)
Epileptic encephalopathy  (IAGP)
Epileptic spasm  (IAGP)
Fasciculations  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Feeding difficulties  (IAGP)
Frontal bossing  (IAGP)
Generalized tonic seizure  (IAGP)
Gliosis  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hirsutism  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Low hanging columella  (IAGP)
Lower limb spasticity  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor stereotypy  (IAGP)
Muscle weakness  (IAGP)
Narrow forehead  (IAGP)
Neurogenic bladder  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Plagiocephaly  (IAGP)
Polyhydramnios  (IAGP)
Poor speech  (IAGP)
Primary microcephaly  (IAGP)
Progressive spasticity  (IAGP)
Recurrent long bone fractures  (IAGP)
Recurrent pneumonia  (IAGP)
Respiratory failure  (IAGP)
Respiratory failure requiring assisted ventilation  (IAGP)
Respiratory insufficiency  (IAGP)
Retractile testis  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sparse eyebrow  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tetraplegia  (IAGP)
Tongue fasciculations  (IAGP)
Upper limb spasticity  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Ventriculomegaly  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8567715   PMID:8619474   PMID:8706133   PMID:9110174   PMID:9265649   PMID:10231032   PMID:10722852   PMID:10831612   PMID:11110777   PMID:11847227   PMID:12107410   PMID:12477932  
PMID:12912990   PMID:14702039   PMID:15231748   PMID:15489334   PMID:16169070   PMID:17704193   PMID:18171676   PMID:18588884   PMID:19490893   PMID:19724895   PMID:19851296   PMID:20198315  
PMID:20360068   PMID:20740604   PMID:21044950   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22199357   PMID:22863883   PMID:23027611   PMID:25544563   PMID:25659154   PMID:25921289  
PMID:26025128   PMID:26186194   PMID:26344197   PMID:26389662   PMID:26514267   PMID:27173435   PMID:27320910   PMID:27400436   PMID:27666370   PMID:27666374   PMID:27807845   PMID:27928163  
PMID:28158450   PMID:28514442   PMID:28583220   PMID:28611215   PMID:28700943   PMID:28970104   PMID:29117863   PMID:29180619   PMID:29540532   PMID:29615496   PMID:29769041   PMID:29921875  
PMID:30021884   PMID:31073040   PMID:31091453   PMID:31240132   PMID:31617661   PMID:31980649   PMID:32552912   PMID:32687490   PMID:33875784   PMID:33961781   PMID:34349018   PMID:34373451  
PMID:35013556   PMID:35241646   PMID:35256949   PMID:35271311   PMID:35337019   PMID:35439318   PMID:35563538   PMID:35748872   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36168628  
PMID:36215168   PMID:36538041   PMID:36543142   PMID:36634849   PMID:37071682   PMID:37223481   PMID:37317656   PMID:37394437   PMID:37827155   PMID:39147351  


Genomics

Comparative Map Data
TBCD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381782,752,065 - 82,945,914 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1782,752,042 - 82,945,914 (+)EnsemblGRCh38hg38GRCh38
GRCh371780,709,941 - 80,903,790 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361778,303,229 - 78,494,351 (+)NCBINCBI36Build 36hg18NCBI36
Build 341778,303,226 - 78,494,349NCBI
Celera1777,304,731 - 77,496,641 (+)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1776,109,476 - 76,303,450 (+)NCBIHuRef
CHM1_11780,796,173 - 80,987,138 (+)NCBICHM1_1
T2T-CHM13v2.01783,626,412 - 83,817,896 (+)NCBIT2T-CHM13v2.0
Tbcd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911121,342,817 - 121,507,996 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11121,342,775 - 121,507,990 (+)EnsemblGRCm39 Ensembl
GRCm3811121,451,991 - 121,617,170 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11121,451,949 - 121,617,164 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711121,313,263 - 121,478,484 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611121,268,092 - 121,433,258 (+)NCBIMGSCv36mm8
Celera11133,187,885 - 133,352,937 (+)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1185.41NCBI
Tbcd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810107,215,626 - 107,372,398 (+)NCBIGRCr8
mRatBN7.210106,717,340 - 106,874,126 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10106,717,367 - 106,874,122 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10111,820,083 - 111,979,249 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010111,283,139 - 111,442,303 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010106,637,785 - 106,794,519 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010110,643,693 - 110,800,493 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10110,643,759 - 110,800,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010110,229,241 - 110,384,468 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410110,676,187 - 110,717,621 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110110,690,684 - 110,733,270 (+)NCBI
Celera10105,253,208 - 105,409,327 (+)NCBICelera
Cytogenetic Map10q32.3NCBI
Tbcd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955506273,954 - 434,973 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955506273,769 - 434,205 (-)NCBIChiLan1.0ChiLan1.0
TBCD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21999,296,993 - 99,497,349 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117104,200,493 - 104,402,755 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01777,170,966 - 77,371,078 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11782,971,613 - 83,158,223 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1782,971,613 - 83,158,223 (+)Ensemblpanpan1.1panPan2
TBCD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha9192,792 - 332,630 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.09184,414 - 324,333 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl9184,424 - 324,434 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.19178,686 - 318,495 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.09339,947 - 479,727 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.09415,111 - 555,005 (-)NCBIUU_Cfam_GSD_1.0
Tbcd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602203,583 - 331,125 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936923239,053 - 364,112 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936923239,029 - 366,503 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBCD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl12329,714 - 449,556 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.112327,009 - 449,375 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.212287,900 - 410,747 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBCD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11674,646,620 - 74,828,874 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1674,646,464 - 74,828,163 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607746,300,029 - 46,518,642 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tbcd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480111,439,243 - 11,595,488 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480111,439,419 - 11,597,865 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TBCD
1350 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005993.5(TBCD):c.1786G>A (p.Glu596Lys) single nucleotide variant not provided [RCV001526674] Chr17:82903460 [GRCh38]
Chr17:80861336 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1319-197C>T single nucleotide variant not provided [RCV001643593] Chr17:82870027 [GRCh38]
Chr17:80827903 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000723330]|not provided [RCV000522161] Chr17:82900662 [GRCh38]
Chr17:80858538 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3 copy number gain VATER association [RCV000518890] Chr17:80881583..81060040 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.4(TBCD):c.2009delG deletion not provided [RCV000523971] Chr17:82911757 [GRCh38]
Chr17:80869633 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1 copy number loss See cases [RCV000051166] Chr17:82549058..83086677 [GRCh38]
Chr17:80506934..81044553 [GRCh37]
Chr17:78100223..78637842 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82884871-83086677)x3 copy number gain See cases [RCV000051064] Chr17:82884871..83086677 [GRCh38]
Chr17:80842747..81044553 [GRCh37]
Chr17:78436036..78637842 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1 copy number loss See cases [RCV000052051] Chr17:82523093..83072065 [GRCh38]
Chr17:80480969..81029941 [GRCh37]
Chr17:78074258..78623230 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1 copy number loss See cases [RCV000052052] Chr17:82588128..83061939 [GRCh38]
Chr17:80546004..81019815 [GRCh37]
Chr17:78139293..78613104 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82625321-83086818)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052054]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052054]|See cases [RCV000052054] Chr17:82625321..83086818 [GRCh38]
Chr17:80583197..81044694 [GRCh37]
Chr17:78176486..78637983 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:80328106-83086677)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053454]|See cases [RCV000053454] Chr17:80328106..83086677 [GRCh38]
Chr17:78301906..81044553 [GRCh37]
Chr17:75916501..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82821407-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054051]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054051]|See cases [RCV000054051] Chr17:82821407..83086677 [GRCh38]
Chr17:80779283..81044553 [GRCh37]
Chr17:78372572..78637842 [NCBI36]
Chr17:17q25.3		 uncertain significance
NM_024702.2(ZNF750):c.2079G>A (p.Arg693=) single nucleotide variant Malignant melanoma [RCV000071725] Chr17:82830235 [GRCh38]
Chr17:80788111 [GRCh37]
Chr17:78381400 [NCBI36]
Chr17:17q25.3		 not provided
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332703]|not specified [RCV002242181] Chr17:82807646 [GRCh38]
Chr17:80765522 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332705] Chr17:82907795 [GRCh38]
Chr17:80865671 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2464A>G (p.Ile822Val) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332707] Chr17:82926484 [GRCh38]
Chr17:80884360 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82911614-83086677)x1 copy number loss See cases [RCV000134961] Chr17:82911614..83086677 [GRCh38]
Chr17:80869490..81044553 [GRCh37]
Chr17:78462779..78637842 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3 copy number gain See cases [RCV000135704] Chr17:82452776..83102552 [GRCh38]
Chr17:80410652..81048189 [GRCh37]
Chr17:78003941..78653717 [NCBI36]
Chr17:17q25.3		 likely pathogenic|uncertain significance
GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1 copy number loss See cases [RCV000137471] Chr17:82625521..83102552 [GRCh38]
Chr17:80583397..81048189 [GRCh37]
Chr17:78176686..78653717 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1 copy number loss See cases [RCV000137356] Chr17:82072338..83102552 [GRCh38]
Chr17:80030214..81048189 [GRCh37]
Chr17:77623503..78653717 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3 copy number gain See cases [RCV000138688] Chr17:81008196..83102584 [GRCh38]
Chr17:78981996..81048189 [GRCh37]
Chr17:76596591..78653749 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:82884871-83102552)x1 copy number loss See cases [RCV000138532] Chr17:82884871..83102552 [GRCh38]
Chr17:80842747..81048189 [GRCh37]
Chr17:78436036..78653717 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1 copy number loss See cases [RCV000138324] Chr17:82625521..83056395 [GRCh38]
Chr17:80583397..81014271 [GRCh37]
Chr17:78176686..78607560 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82911614-83048767)x3 copy number gain See cases [RCV000140207] Chr17:82911614..83048767 [GRCh38]
Chr17:80869490..81006643 [GRCh37]
Chr17:78462779..78599932 [NCBI36]
Chr17:17q25.3		 benign
GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1 copy number loss See cases [RCV000139895] Chr17:82531299..83084062 [GRCh38]
Chr17:80489175..81041938 [GRCh37]
Chr17:78082464..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1 copy number loss See cases [RCV000142007] Chr17:81401966..83084062 [GRCh38]
Chr17:79375766..81041938 [GRCh37]
Chr17:76990361..78635227 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1 copy number loss See cases [RCV000141969] Chr17:82597488..83084062 [GRCh38]
Chr17:80555364..81041938 [GRCh37]
Chr17:78148653..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3 copy number gain See cases [RCV000141856] Chr17:82326074..82856150 [GRCh38]
Chr17:80283950..80814026 [GRCh37]
Chr17:77877239..78407315 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1 copy number loss See cases [RCV000142229] Chr17:82597445..83084062 [GRCh38]
Chr17:80555321..81041938 [GRCh37]
Chr17:78148610..78635227 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82911614-83048826)x1 copy number loss See cases [RCV000142631] Chr17:82911614..83048826 [GRCh38]
Chr17:80869490..81006702 [GRCh37]
Chr17:78462779..78599991 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_005993.5(TBCD):c.1564-12C>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258897] Chr17:82893535 [GRCh38]
Chr17:80851411 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258893]|not provided [RCV001859530] Chr17:82938132 [GRCh38]
Chr17:80896008 [GRCh37]
Chr17:17q25.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258894]|not provided [RCV002518796] Chr17:82906007 [GRCh38]
Chr17:80863883 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_005993.5(TBCD):c.1160T>G (p.Met387Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258898] Chr17:82809719 [GRCh38]
Chr17:80767595 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258900] Chr17:82929229 [GRCh38]
Chr17:80887105 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258901] Chr17:82807650 [GRCh38]
Chr17:80765526 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258905]|not provided [RCV004808663] Chr17:82924992 [GRCh38]
Chr17:80882868 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258906]|not provided [RCV000523090] Chr17:82924958 [GRCh38]
Chr17:80882834 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258913] Chr17:82929180 [GRCh38]
Chr17:80887056 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000258908]|not specified [RCV004701361] Chr17:82781636 [GRCh38]
Chr17:80739512 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001610768]|not provided [RCV000335816] Chr17:82870328 [GRCh38]
Chr17:80828204 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.2472-2A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003311580] Chr17:82927184 [GRCh38]
Chr17:80885060 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003311581] Chr17:82920594 [GRCh38]
Chr17:80878470 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.625G>A (p.Val209Ile) single nucleotide variant Inborn genetic diseases [RCV000624872]|not provided [RCV001860444] Chr17:82772494 [GRCh38]
Chr17:80730370 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.337C>T (p.Arg113Ter) single nucleotide variant not provided [RCV000598715] Chr17:82766270 [GRCh38]
Chr17:80724146 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.988C>T (p.Gln330Ter) single nucleotide variant Inborn genetic diseases [RCV002529048]|not provided [RCV000578893] Chr17:82805912 [GRCh38]
Chr17:80763788 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.881G>A (p.Arg294Gln) single nucleotide variant not provided [RCV000521475] Chr17:82800927 [GRCh38]
Chr17:80758803 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17q25.3(chr17:78514452-81041938)x1 copy number loss See cases [RCV000449416] Chr17:78514452..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80881112-80970272)x3 copy number gain See cases [RCV000446321] Chr17:80881112..80970272 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_005993.5(TBCD):c.1615G>A (p.Val539Ile) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336897]|Inborn genetic diseases [RCV002525487]|not provided [RCV000425448] Chr17:82893598 [GRCh38]
Chr17:80851474 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2260+5G>A single nucleotide variant not provided [RCV000419751] Chr17:82923738 [GRCh38]
Chr17:80881614 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003335324]|TBCD-related disorder [RCV003392255]|not provided [RCV000440754] Chr17:82903413 [GRCh38]
Chr17:80861289 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000764151]|not provided [RCV000479322] Chr17:82800926 [GRCh38]
Chr17:80758802 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_005993.5(TBCD):c.1244C>T (p.Ala415Val) single nucleotide variant Inborn genetic diseases [RCV002524019]|not provided [RCV000494236] Chr17:82814860 [GRCh38]
Chr17:80772736 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1 copy number loss See cases [RCV000510913] Chr17:80558676..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80860619-81041938)x1 copy number loss See cases [RCV000510794] Chr17:80860619..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1699G>A (p.Ala567Thr) single nucleotide variant not specified [RCV004331117] Chr17:82830615 [GRCh38]
Chr17:80788491 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2944G>A (p.Val982Ile) single nucleotide variant Inborn genetic diseases [RCV003239527] Chr17:82929453 [GRCh38]
Chr17:80887329 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1483G>A (p.Val495Met) single nucleotide variant Inborn genetic diseases [RCV003259337] Chr17:82884152 [GRCh38]
Chr17:80842028 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1255G>A (p.Asp419Asn) single nucleotide variant not specified [RCV004295036] Chr17:82831200 [GRCh38]
Chr17:80789076 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.176G>A (p.Arg59Gln) single nucleotide variant Inborn genetic diseases [RCV004023479]|not provided [RCV000514604] Chr17:82752369 [GRCh38]
Chr17:80710245 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2468C>A (p.Ala823Glu) single nucleotide variant Inborn genetic diseases [RCV000624837] Chr17:82926488 [GRCh38]
Chr17:80884364 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80623111-80840332)x1 copy number loss See cases [RCV000512286] Chr17:80623111..80840332 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_005993.5(TBCD):c.841G>A (p.Asp281Asn) single nucleotide variant not provided [RCV000658796] Chr17:82800887 [GRCh38]
Chr17:80758763 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2852+3A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002272319]|Inborn genetic diseases [RCV002534299]|not provided [RCV000658797]|not specified [RCV003323662] Chr17:82929274 [GRCh38]
Chr17:80887150 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000714531]|TBCD-related disorder [RCV003965468]|Thiel-Behnke corneal dystrophy [RCV000714530]|not provided [RCV002060896] Chr17:82932670 [GRCh38]
Chr17:80890546 [GRCh37]
Chr17:17q25.3		 benign|likely benign|uncertain significance
GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1 copy number loss not provided [RCV000683968] Chr17:80489175..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1 copy number loss not provided [RCV000683969] Chr17:80555321..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80759659-80876866)x1 copy number loss not provided [RCV000683970] Chr17:80759659..80876866 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000714809] Chr17:82889671 [GRCh38]
Chr17:80847547 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000714529]|Thiel-Behnke corneal dystrophy [RCV000714528] Chr17:82921536 [GRCh38]
Chr17:80879412 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu) single nucleotide variant Inborn genetic diseases [RCV004671422]|not provided [RCV001665112]|not specified [RCV003994318] Chr17:82927933 [GRCh38]
Chr17:80885809 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.3369+103C>T single nucleotide variant not provided [RCV001540045] Chr17:82938239 [GRCh38]
Chr17:80896115 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.436-204G>A single nucleotide variant not provided [RCV001643781] Chr17:82768216 [GRCh38]
Chr17:80726092 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80544855-81060000)x1 copy number loss not provided [RCV000739713] Chr17:80544855..81060000 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80652949-81060040)x3 copy number gain not provided [RCV000739715] Chr17:80652949..81060040 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3192-173T>C single nucleotide variant not provided [RCV001644433] Chr17:82937098 [GRCh38]
Chr17:80894974 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2380-151A>G single nucleotide variant not provided [RCV001667587] Chr17:82926249 [GRCh38]
Chr17:80884125 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.621T>C (p.Ala207=) single nucleotide variant not provided [RCV000936393] Chr17:82772490 [GRCh38]
Chr17:80730366 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1319-145A>G single nucleotide variant not provided [RCV001693246] Chr17:82870079 [GRCh38]
Chr17:80827955 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.230A>G (p.His77Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000995888]|not provided [RCV000762220] Chr17:82756210 [GRCh38]
Chr17:80714086 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005993.5(TBCD):c.2048_2052dup (p.Glu685Ter) duplication not provided [RCV000762221] Chr17:82920564..82920565 [GRCh38]
Chr17:80878440..80878441 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17q25.3(chr17:79828248-81057996)x1 copy number loss not provided [RCV000752233] Chr17:79828248..81057996 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1319-43G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815613]|not provided [RCV001667923] Chr17:82870181 [GRCh38]
Chr17:80828057 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2380-144A>G single nucleotide variant not provided [RCV001610130] Chr17:82926256 [GRCh38]
Chr17:80884132 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.135G>A (p.Glu45=) single nucleotide variant TBCD-related disorder [RCV003895627]|not provided [RCV000925179] Chr17:82752328 [GRCh38]
Chr17:80710204 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2973C>T (p.Gly991=) single nucleotide variant TBCD-related disorder [RCV003895623]|not provided [RCV000924753] Chr17:82929482 [GRCh38]
Chr17:80887358 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1302G>A (p.Pro434=) single nucleotide variant not provided [RCV000900395] Chr17:82814918 [GRCh38]
Chr17:80772794 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3561C>T (p.Pro1187=) single nucleotide variant not provided [RCV000965399] Chr17:82941480 [GRCh38]
Chr17:80899356 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3216T>C (p.Leu1072=) single nucleotide variant not provided [RCV000885266] Chr17:82937295 [GRCh38]
Chr17:80895171 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1680G>A (p.Thr560=) single nucleotide variant not provided [RCV000936507] Chr17:82900681 [GRCh38]
Chr17:80858557 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1467A>G (p.Ala489=) single nucleotide variant TBCD-related disorder [RCV004753070]|not provided [RCV000880038]|not specified [RCV003987735] Chr17:82870372 [GRCh38]
Chr17:80828248 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.3252T>C (p.Asp1084=) single nucleotide variant not provided [RCV000964381] Chr17:82937331 [GRCh38]
Chr17:80895207 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2094C>T (p.Thr698=) single nucleotide variant not provided [RCV000926138] Chr17:82920611 [GRCh38]
Chr17:80878487 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2301C>T (p.Pro767=) single nucleotide variant not provided [RCV000881060] Chr17:82924979 [GRCh38]
Chr17:80882855 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1534-4G>A single nucleotide variant See cases [RCV002252274]|not provided [RCV000959464] Chr17:82889664 [GRCh38]
Chr17:80847540 [GRCh37]
Chr17:17q25.3		 benign|likely benign|uncertain significance
NM_005993.5(TBCD):c.1047C>T (p.Asp349=) single nucleotide variant not provided [RCV000923906]|not specified [RCV004702525] Chr17:82805971 [GRCh38]
Chr17:80763847 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.2852+8C>T single nucleotide variant not provided [RCV000983355] Chr17:82929279 [GRCh38]
Chr17:80887155 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+8C>T single nucleotide variant not provided [RCV000926184] Chr17:82927331 [GRCh38]
Chr17:80885207 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3066C>T (p.Phe1022=) single nucleotide variant TBCD-related disorder [RCV003916263]|not provided [RCV000968750] Chr17:82930596 [GRCh38]
Chr17:80888472 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2142C>G (p.Leu714=) single nucleotide variant not provided [RCV000966515] Chr17:82921541 [GRCh38]
Chr17:80879417 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3518G>A (p.Arg1173His) single nucleotide variant not provided [RCV000893316] Chr17:82941437 [GRCh38]
Chr17:80899313 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.1095G>T (p.Leu365=) single nucleotide variant TBCD-related disorder [RCV003950518]|not provided [RCV000898763] Chr17:82807615 [GRCh38]
Chr17:80765491 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.2083A>C (p.Arg695=) single nucleotide variant not provided [RCV000943386] Chr17:82920600 [GRCh38]
Chr17:80878476 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.993C>T (p.Leu331=) single nucleotide variant not provided [RCV000881447] Chr17:82805917 [GRCh38]
Chr17:80763793 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2580C>T (p.Thr860=) single nucleotide variant not provided [RCV000922455] Chr17:82927294 [GRCh38]
Chr17:80885170 [GRCh37]
Chr17:17q25.3		 likely benign
NC_000017.11:g.(?_82926400)_(82941483_?)del deletion not provided [RCV001033270] Chr17:80884276..80899359 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000995889] Chr17:82884173 [GRCh38]
Chr17:80842049 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2380-1G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000995890] Chr17:82926399 [GRCh38]
Chr17:80884275 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000995891]|not provided [RCV001858824] Chr17:82932669 [GRCh38]
Chr17:80890545 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.2572G>A (p.Asp858Asn) single nucleotide variant not provided [RCV001048414] Chr17:82927286 [GRCh38]
Chr17:80885162 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001089986] Chr17:82870304 [GRCh38]
Chr17:80828180 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3282-5G>A single nucleotide variant not provided [RCV000885098] Chr17:82938044 [GRCh38]
Chr17:80895920 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.2763C>T (p.Ala921=) single nucleotide variant not provided [RCV000920761] Chr17:82929182 [GRCh38]
Chr17:80887058 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1323C>T (p.Val441=) single nucleotide variant not provided [RCV000901677] Chr17:82870228 [GRCh38]
Chr17:80828104 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2274G>T (p.Thr758=) single nucleotide variant not provided [RCV000922620] Chr17:82924952 [GRCh38]
Chr17:80882828 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.984T>C (p.Asn328=) single nucleotide variant not provided [RCV000924073] Chr17:82805908 [GRCh38]
Chr17:80763784 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.365C>A (p.Thr122Asn) single nucleotide variant not provided [RCV000887246] Chr17:82832090 [GRCh38]
Chr17:80789966 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.2018T>A (p.Met673Lys) single nucleotide variant not provided [RCV000902249] Chr17:82830296 [GRCh38]
Chr17:80788172 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3426C>T (p.Val1142=) single nucleotide variant not provided [RCV000897616] Chr17:82939423 [GRCh38]
Chr17:80897299 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2868C>T (p.Ser956=) single nucleotide variant not provided [RCV000919096] Chr17:82929377 [GRCh38]
Chr17:80887253 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1432G>A (p.Val478Ile) single nucleotide variant not provided [RCV000966045] Chr17:82831023 [GRCh38]
Chr17:80788899 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2622C>T (p.Ala874=) single nucleotide variant not provided [RCV000966046] Chr17:82927917 [GRCh38]
Chr17:80885793 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3537C>T (p.Gly1179=) single nucleotide variant not provided [RCV000921602] Chr17:82941456 [GRCh38]
Chr17:80899332 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_024702.3(ZNF750):c.277A>G (p.Asn93Asp) single nucleotide variant ZNF750-related disorder [RCV003910417]|not provided [RCV000882933] Chr17:82832178 [GRCh38]
Chr17:80790054 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1848C>T (p.His616=) single nucleotide variant not provided [RCV000928534] Chr17:82905979 [GRCh38]
Chr17:80863855 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2613C>T (p.Val871=) single nucleotide variant not provided [RCV000981196] Chr17:82927908 [GRCh38]
Chr17:80885784 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-10C>T single nucleotide variant not provided [RCV000921955] Chr17:82781579 [GRCh38]
Chr17:80739455 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1699C>T (p.Leu567=) single nucleotide variant not provided [RCV000929090] Chr17:82900700 [GRCh38]
Chr17:80858576 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1245G>A (p.Ala415=) single nucleotide variant not provided [RCV000897312] Chr17:82814861 [GRCh38]
Chr17:80772737 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1706C>G (p.Pro569Arg) single nucleotide variant not specified [RCV004317224] Chr17:82830608 [GRCh38]
Chr17:80788484 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2351G>A (p.Gly784Asp) single nucleotide variant Inborn genetic diseases [RCV003248754] Chr17:82925029 [GRCh38]
Chr17:80882905 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001944918] Chr17:82752198 [GRCh38]
Chr17:80710074 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1970C>G (p.Ala657Gly) single nucleotide variant not provided [RCV000893720]|not specified [RCV004028431] Chr17:82830344 [GRCh38]
Chr17:80788220 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000985233]|not provided [RCV001858617] Chr17:82900713 [GRCh38]
Chr17:80858589 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000785942] Chr17:82923682 [GRCh38]
Chr17:80881558 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1350C>T (p.Tyr450=) single nucleotide variant not provided [RCV000915947] Chr17:82870255 [GRCh38]
Chr17:80828131 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001095663]|Inborn genetic diseases [RCV002540899]|not provided [RCV000916037] Chr17:82925005 [GRCh38]
Chr17:80882881 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1 copy number loss not provided [RCV000849198] Chr17:80488965..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80809464-80829397)x1 copy number loss not provided [RCV000849937] Chr17:80809464..80829397 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.55_56dup (p.Gly20fs) duplication Seborrhea-like dermatitis with psoriasiform elements [RCV000001358] Chr17:82832398..82832399 [GRCh38]
Chr17:80790274..80790275 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1087+5G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000785941] Chr17:82806016 [GRCh38]
Chr17:80763892 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2566A>G (p.Met856Val) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336901]|TBCD-related disorder [RCV003910683]|not provided [RCV000896766] Chr17:82927280 [GRCh38]
Chr17:80885156 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024702.3(ZNF750):c.1464T>G (p.Pro488=) single nucleotide variant not provided [RCV000962560] Chr17:82830850 [GRCh38]
Chr17:80788726 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2880T>C (p.Ser960=) single nucleotide variant not provided [RCV000940566] Chr17:82929389 [GRCh38]
Chr17:80887265 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1875C>T (p.Cys625=) single nucleotide variant not provided [RCV000916125] Chr17:82906006 [GRCh38]
Chr17:80863882 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80811894-81041938)x3 copy number gain not provided [RCV000849410] Chr17:80811894..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1255G>A (p.Gly419Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001249655] Chr17:82814871 [GRCh38]
Chr17:80772747 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2302GAG[1] (p.Glu769del) microsatellite Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001249656] Chr17:82924980..82924982 [GRCh38]
Chr17:80882856..80882858 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3255C>A (p.Ile1085=) single nucleotide variant not provided [RCV001200410] Chr17:82937334 [GRCh38]
Chr17:80895210 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+4C>T single nucleotide variant not provided [RCV001222311] Chr17:82929275 [GRCh38]
Chr17:80887151 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000853291] Chr17:82870245 [GRCh38]
Chr17:80828121 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV000853292]|not provided [RCV001008022] Chr17:82805891 [GRCh38]
Chr17:80763767 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_024702.3(ZNF750):c.1976C>T (p.Pro659Leu) single nucleotide variant not specified [RCV004288730] Chr17:82830338 [GRCh38]
Chr17:80788214 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80656331-81009672)x3 copy number gain not provided [RCV003312408] Chr17:80656331..81009672 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2072G>A (p.Ser691Asn) single nucleotide variant not specified [RCV004302961] Chr17:82830242 [GRCh38]
Chr17:80788118 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1433A>G (p.Tyr478Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001256001]|not provided [RCV000996628] Chr17:82870338 [GRCh38]
Chr17:80828214 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_005993.5(TBCD):c.227C>T (p.Pro76Leu) single nucleotide variant not provided [RCV003126370] Chr17:82756207 [GRCh38]
Chr17:80714083 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.139C>T (p.His47Tyr) single nucleotide variant not provided [RCV003104501] Chr17:82752332 [GRCh38]
Chr17:80710208 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.250TTG[2] (p.Leu86del) microsatellite not provided [RCV003126371] Chr17:82763979..82763981 [GRCh38]
Chr17:80721855..80721857 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2630C>G (p.Thr877Ser) single nucleotide variant not provided [RCV003126372] Chr17:82927925 [GRCh38]
Chr17:80885801 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1805-104C>T single nucleotide variant not provided [RCV001621318] Chr17:82905832 [GRCh38]
Chr17:80863708 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.772-3dup duplication not provided [RCV001617790] Chr17:82797739..82797740 [GRCh38]
Chr17:80755615..80755616 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.184+25G>C single nucleotide variant not provided [RCV001660753] Chr17:82752402 [GRCh38]
Chr17:80710278 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1475+53G>A single nucleotide variant not provided [RCV001615631] Chr17:82870433 [GRCh38]
Chr17:80828309 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1088-162C>A single nucleotide variant not provided [RCV001666958] Chr17:82807446 [GRCh38]
Chr17:80765322 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2006+204del deletion not provided [RCV001612670] Chr17:82909509 [GRCh38]
Chr17:80867385 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1224-152T>C single nucleotide variant not provided [RCV001709198] Chr17:82814688 [GRCh38]
Chr17:80772564 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.-182-99T>C single nucleotide variant not provided [RCV001648777] Chr17:82832735 [GRCh38]
Chr17:80790611 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.772-3del deletion not provided [RCV001587174] Chr17:82797740 [GRCh38]
Chr17:80755616 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-145G>A single nucleotide variant not provided [RCV001614153] Chr17:82763820 [GRCh38]
Chr17:80721696 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1731-75A>G single nucleotide variant not provided [RCV001644340] Chr17:82903330 [GRCh38]
Chr17:80861206 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1062C>T (p.Thr354=) single nucleotide variant not provided [RCV001715383] Chr17:82831393 [GRCh38]
Chr17:80789269 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3564+148C>T single nucleotide variant not provided [RCV001541742] Chr17:82941631 [GRCh38]
Chr17:80899507 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2487T>C (p.Val829=) single nucleotide variant not provided [RCV000922347] Chr17:82927201 [GRCh38]
Chr17:80885077 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3554T>C (p.Leu1185Pro) single nucleotide variant not provided [RCV000881061] Chr17:82941473 [GRCh38]
Chr17:82941473..82941474 [GRCh38]
Chr17:80899349 [GRCh37]
Chr17:80899349..80899350 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.1044C>T (p.Asp348=) single nucleotide variant TBCD-related disorder [RCV003940589]|not provided [RCV000887946] Chr17:82805968 [GRCh38]
Chr17:80763844 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_024702.3(ZNF750):c.495C>T (p.Val165=) single nucleotide variant not provided [RCV000887245] Chr17:82831960 [GRCh38]
Chr17:80789836 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3276C>G (p.Ile1092Met) single nucleotide variant not provided [RCV000896860] Chr17:82937355 [GRCh38]
Chr17:80895231 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003492186]|Inborn genetic diseases [RCV004678864]|TBCD-related disorder [RCV003910863]|not provided [RCV000907869] Chr17:82805981 [GRCh38]
Chr17:80763857 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2828G>T (p.Gly943Val) single nucleotide variant not provided [RCV000964020] Chr17:82929247 [GRCh38]
Chr17:80887123 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3069C>T (p.Ser1023=) single nucleotide variant not provided [RCV000973157] Chr17:82930599 [GRCh38]
Chr17:80888475 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.36C>G (p.Pro12=) single nucleotide variant not provided [RCV000940132] Chr17:82752229 [GRCh38]
Chr17:80710105 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-6T>C single nucleotide variant not provided [RCV000959774] Chr17:82911752 [GRCh38]
Chr17:80869628 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2902C>T (p.Arg968Cys) single nucleotide variant not provided [RCV000885689] Chr17:82929411 [GRCh38]
Chr17:80887287 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1318+16692C>T single nucleotide variant not provided [RCV000953375] Chr17:82831626 [GRCh38]
Chr17:80789502 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_024702.3(ZNF750):c.1437-8T>G single nucleotide variant ZNF750-related disorder [RCV003920625]|not provided [RCV000885094] Chr17:82830885 [GRCh38]
Chr17:80788761 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.61C>T (p.Leu21=) single nucleotide variant not provided [RCV000908953] Chr17:82752254 [GRCh38]
Chr17:80710130 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001262005]|not provided [RCV001553029]|not specified [RCV001194226] Chr17:82937291 [GRCh38]
Chr17:80895167 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1731-3C>T single nucleotide variant TBCD-related disorder [RCV003960684]|not provided [RCV000957700] Chr17:82903402 [GRCh38]
Chr17:80861278 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2039-3C>T single nucleotide variant TBCD-related disorder [RCV003960685]|not provided [RCV000957701] Chr17:82920553 [GRCh38]
Chr17:80878429 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3477G>A (p.Ala1159=) single nucleotide variant not provided [RCV000913616] Chr17:82939474 [GRCh38]
Chr17:80897350 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1305C>G (p.Asn435Lys) single nucleotide variant ZNF750-related disorder [RCV003968113]|not provided [RCV000890260] Chr17:82831150 [GRCh38]
Chr17:80789026 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1617C>T (p.Val539=) single nucleotide variant not provided [RCV000912559] Chr17:82893600 [GRCh38]
Chr17:80851476 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.*127CAAA[4] microsatellite not provided [RCV001656643] Chr17:82829996..82829999 [GRCh38]
Chr17:80787872..80787875 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2380-29T>C single nucleotide variant not provided [RCV001620864] Chr17:82926371 [GRCh38]
Chr17:80884247 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2379+214A>C single nucleotide variant not provided [RCV001637414] Chr17:82925271 [GRCh38]
Chr17:80883147 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.236-193C>G single nucleotide variant not provided [RCV001709942] Chr17:82763772 [GRCh38]
Chr17:80721648 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1475+25C>T single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815615]|not provided [RCV001676189] Chr17:82870405 [GRCh38]
Chr17:80828281 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.39_49del (p.His13fs) deletion Seborrhea-like dermatitis with psoriasiform elements [RCV002467400] Chr17:82832406..82832416 [GRCh38]
Chr17:80790282..80790292 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 17q25.3(chr17:80585033-81041938)x3 copy number gain not provided [RCV002473889] Chr17:80585033..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3282-180T>C single nucleotide variant not provided [RCV001649924] Chr17:82937869 [GRCh38]
Chr17:80895745 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1922+194T>C single nucleotide variant not provided [RCV001599172] Chr17:82906247 [GRCh38]
Chr17:80864123 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1087+124G>A single nucleotide variant not provided [RCV001621134] Chr17:82806135 [GRCh38]
Chr17:80764011 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.817+82T>G single nucleotide variant not provided [RCV001677289] Chr17:82797884 [GRCh38]
Chr17:80755760 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2006+150C>T single nucleotide variant not provided [RCV001643482] Chr17:82909457 [GRCh38]
Chr17:80867333 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2853-32A>G single nucleotide variant not provided [RCV001639552] Chr17:82929330 [GRCh38]
Chr17:80887206 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1087+123C>T single nucleotide variant not provided [RCV001643656] Chr17:82806134 [GRCh38]
Chr17:80764010 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2039-5dup duplication not provided [RCV001721649] Chr17:82920536..82920537 [GRCh38]
Chr17:80878412..80878413 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1923-111G>A single nucleotide variant not provided [RCV001688389] Chr17:82907650 [GRCh38]
Chr17:80865526 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3282-156A>G single nucleotide variant not provided [RCV001596316] Chr17:82937893 [GRCh38]
Chr17:80895769 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2007-84C>G single nucleotide variant not provided [RCV001689216] Chr17:82911674 [GRCh38]
Chr17:80869550 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2102-52G>T single nucleotide variant not provided [RCV001621643] Chr17:82921449 [GRCh38]
Chr17:80879325 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2007-202G>A single nucleotide variant not provided [RCV001621867] Chr17:82911556 [GRCh38]
Chr17:80869432 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2038+110T>C single nucleotide variant not provided [RCV001656575] Chr17:82911899 [GRCh38]
Chr17:80869775 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2039-43A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815593]|not provided [RCV001620012] Chr17:82920513 [GRCh38]
Chr17:80878389 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1730+62G>A single nucleotide variant not provided [RCV001676228] Chr17:82900793 [GRCh38]
Chr17:80858669 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2039-169G>C single nucleotide variant not provided [RCV001594773] Chr17:82920387 [GRCh38]
Chr17:80878263 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3369+150G>A single nucleotide variant not provided [RCV001617462] Chr17:82938286 [GRCh38]
Chr17:80896162 [GRCh37]
Chr17:17q25.3		 benign
NC_000017.11:g.82751954C>T single nucleotide variant not provided [RCV001638279] Chr17:82751954 [GRCh38]
Chr17:80709830 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1984-162C>T single nucleotide variant not provided [RCV001635889] Chr17:82909123 [GRCh38]
Chr17:80866999 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2991+162del deletion not provided [RCV001674190] Chr17:82929662 [GRCh38]
Chr17:80887538 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2007-206C>T single nucleotide variant not provided [RCV001621059] Chr17:82911552 [GRCh38]
Chr17:80869428 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2991+75A>G single nucleotide variant not provided [RCV001684245] Chr17:82929575 [GRCh38]
Chr17:80887451 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2101+114A>G single nucleotide variant not provided [RCV001673708] Chr17:82920732 [GRCh38]
Chr17:80878608 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2179-78G>C single nucleotide variant not provided [RCV001598803] Chr17:82923574 [GRCh38]
Chr17:80881450 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.-112A>C single nucleotide variant not provided [RCV001636063] Chr17:82832566 [GRCh38]
Chr17:80790442 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1983+169T>C single nucleotide variant not provided [RCV001636065] Chr17:82907990 [GRCh38]
Chr17:80865866 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:80717487-81041938)x3 copy number gain not provided [RCV001006922] Chr17:80717487..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3145dup (p.His1049fs) duplication not provided [RCV001091549] Chr17:82932687..82932688 [GRCh38]
Chr17:80890563..80890564 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1475+47G>A single nucleotide variant not provided [RCV001710204] Chr17:82870427 [GRCh38]
Chr17:80828303 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1533+173G>A single nucleotide variant not provided [RCV001710340] Chr17:82884375 [GRCh38]
Chr17:80842251 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2038+41C>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815617]|not provided [RCV001681844] Chr17:82911830 [GRCh38]
Chr17:80869706 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.436-36A>G single nucleotide variant not provided [RCV001613984] Chr17:82768384 [GRCh38]
Chr17:80726260 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3564+30G>T single nucleotide variant not provided [RCV001645864] Chr17:82941513 [GRCh38]
Chr17:80899389 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3191+27T>C single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001816018]|not provided [RCV001671108] Chr17:82932762 [GRCh38]
Chr17:80890638 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2101+175_2101+176del deletion not provided [RCV001686063] Chr17:82920792..82920793 [GRCh38]
Chr17:80878668..80878669 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.-182-260A>G single nucleotide variant not provided [RCV001685952] Chr17:82832896 [GRCh38]
Chr17:80790772 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3370-28C>T single nucleotide variant not provided [RCV001665619] Chr17:82939339 [GRCh38]
Chr17:80897215 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2992-67G>A single nucleotide variant not provided [RCV001680802] Chr17:82930455 [GRCh38]
Chr17:80888331 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2992-150G>A single nucleotide variant not provided [RCV001670161] Chr17:82930372 [GRCh38]
Chr17:80888248 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3194A>G (p.His1065Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001089987] Chr17:82937273 [GRCh38]
Chr17:80895149 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2101+178_2101+179del deletion not provided [RCV001682300] Chr17:82920796..82920797 [GRCh38]
Chr17:80878672..80878673 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3479+140A>G single nucleotide variant not provided [RCV001694841] Chr17:82939616 [GRCh38]
Chr17:80897492 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1476-126G>T single nucleotide variant not provided [RCV001644120] Chr17:82884019 [GRCh38]
Chr17:80841895 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2006+98C>A single nucleotide variant not provided [RCV001644156] Chr17:82909405 [GRCh38]
Chr17:80867281 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3435G>A (p.Ala1145=) single nucleotide variant not provided [RCV001172120] Chr17:82939432 [GRCh38]
Chr17:80897308 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001254044] Chr17:82938074 [GRCh38]
Chr17:80895950 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005993.5(TBCD):c.951-2A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001254683] Chr17:82805873 [GRCh38]
Chr17:80763749 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2006+5G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001254137] Chr17:82909312 [GRCh38]
Chr17:80867188 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2693+1G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001255999] Chr17:82927989 [GRCh38]
Chr17:80885865 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2992-234A>G single nucleotide variant not provided [RCV001641526] Chr17:82930288 [GRCh38]
Chr17:80888164 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2690A>G (p.His897Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332709]|Inborn genetic diseases [RCV002546593]|not provided [RCV001865764] Chr17:82927985 [GRCh38]
Chr17:80885861 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2100del (p.Ile700fs) deletion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001267696]|not provided [RCV003708590] Chr17:82920616 [GRCh38]
Chr17:80878492 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_005993.5(TBCD):c.2789A>G (p.His930Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001267697] Chr17:82929208 [GRCh38]
Chr17:80887084 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1087+96C>T single nucleotide variant not provided [RCV001538802] Chr17:82806107 [GRCh38]
Chr17:80763983 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.29G>A (p.Gly10Asp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001329506]|not provided [RCV003770818] Chr17:82752222 [GRCh38]
Chr17:80710098 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2579C>T (p.Thr860Ile) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332708] Chr17:82927293 [GRCh38]
Chr17:80885169 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2764G>A (p.Ala922Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332710] Chr17:82929183 [GRCh38]
Chr17:80887059 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.11:g.82840369T>G single nucleotide variant Variant of unknown significance [RCV000030772] Chr17:82840369 [GRCh38]
Chr17:80798245 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3512G>T (p.Arg1171Leu) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001329509]|not provided [RCV002546330] Chr17:82941431 [GRCh38]
Chr17:80899307 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1 copy number loss not provided [RCV001270664] Chr17:80544251..81152210 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336898]|Inborn genetic diseases [RCV002546797]|TBCD-related disorder [RCV003908529]|not provided [RCV001483779] Chr17:82923712 [GRCh38]
Chr17:80881588 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2429G>C (p.Ser810Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336900]|not provided [RCV002546799] Chr17:82926449 [GRCh38]
Chr17:80884325 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.11:g.82751577_82751580C[5]GCCCCC[1] microsatellite not provided [RCV001355573] Chr17:82751576..82751577 [GRCh38]
Chr17:80709452..80709453 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.214C>T (p.His72Tyr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332706] Chr17:82756194 [GRCh38]
Chr17:80714070 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.131G>C (p.Arg44Pro) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001332704] Chr17:82752324 [GRCh38]
Chr17:80710200 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2273C>T (p.Thr758Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336899]|Inborn genetic diseases [RCV002546798] Chr17:82924951 [GRCh38]
Chr17:80882827 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001329510]|Inborn genetic diseases [RCV002546331] Chr17:82941457 [GRCh38]
Chr17:80899333 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.320A>G (p.Tyr107Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001329507] Chr17:82764049 [GRCh38]
Chr17:80721925 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3511C>T (p.Arg1171Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001329508]|not provided [RCV002293524] Chr17:82941430 [GRCh38]
Chr17:80899306 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1324G>A (p.Ala442Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336896] Chr17:82870229 [GRCh38]
Chr17:80828105 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.390G>C (p.Glu130Asp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001336902] Chr17:82766323 [GRCh38]
Chr17:80724199 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1 copy number loss See cases [RCV001420499] Chr17:82586979..83257441 [GRCh38]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1984-8A>G single nucleotide variant TBCD-related disorder [RCV003921153]|not provided [RCV001520153] Chr17:82909277 [GRCh38]
Chr17:80867153 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2859T>C (p.Asp953=) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815575]|not provided [RCV001516556] Chr17:82929368 [GRCh38]
Chr17:80887244 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1725A>G (p.Ala575=) single nucleotide variant not provided [RCV001534110] Chr17:82830589 [GRCh38]
Chr17:80788465 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1698T>C (p.Pro566=) single nucleotide variant not provided [RCV001534910] Chr17:82830616 [GRCh38]
Chr17:80788492 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1479A>C (p.Ala493=) single nucleotide variant not provided [RCV001652842] Chr17:82884148 [GRCh38]
Chr17:80842024 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2101+179C>T single nucleotide variant not provided [RCV001655538] Chr17:82920797 [GRCh38]
Chr17:80878673 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1318+17578G>A single nucleotide variant not provided [RCV001611517] Chr17:82832512 [GRCh38]
Chr17:80790388 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2853-44G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001816017]|not provided [RCV001644003] Chr17:82929318 [GRCh38]
Chr17:80887194 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1850T>C (p.Met617Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815574]|not provided [RCV001516555] Chr17:82905981 [GRCh38]
Chr17:80863857 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.435+21C>G single nucleotide variant not provided [RCV001536912] Chr17:82766389 [GRCh38]
Chr17:80724265 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2992-236C>G single nucleotide variant not provided [RCV001691596] Chr17:82930286 [GRCh38]
Chr17:80888162 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.638+80G>A single nucleotide variant not provided [RCV001716434] Chr17:82772587 [GRCh38]
Chr17:80730463 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.-33del deletion not provided [RCV001673695] Chr17:82752161 [GRCh38]
Chr17:80710037 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3281+17G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815581]|not provided [RCV001522289] Chr17:82937377 [GRCh38]
Chr17:80895253 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.28G>T (p.Gly10Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001816009]|not provided [RCV001517315] Chr17:82752221 [GRCh38]
Chr17:80710097 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1422C>T (p.Phe474=) single nucleotide variant not provided [RCV001517316] Chr17:82870327 [GRCh38]
Chr17:80828203 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.638+144T>C single nucleotide variant not provided [RCV001691819] Chr17:82772651 [GRCh38]
Chr17:80730527 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.796C>T (p.Arg266Cys) single nucleotide variant not provided [RCV001585240]|not specified [RCV003994313] Chr17:82797781 [GRCh38]
Chr17:80755657 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1318+122C>T single nucleotide variant not provided [RCV001696399] Chr17:82815056 [GRCh38]
Chr17:80772932 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.950+1G>T single nucleotide variant not provided [RCV001379848] Chr17:82800997 [GRCh38]
Chr17:80758873 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815576]|not provided [RCV001516557] Chr17:82938057 [GRCh38]
Chr17:80895933 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3486G>A (p.Ala1162=) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001815577]|not provided [RCV001516558] Chr17:82941405 [GRCh38]
Chr17:80899281 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2472-14A>C single nucleotide variant not provided [RCV001513211] Chr17:82927172 [GRCh38]
Chr17:80885048 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1224-2A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002238620]|not provided [RCV003093920] Chr17:82814838 [GRCh38]
Chr17:80772714 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1 copy number loss not provided [RCV001834268] Chr17:80555363..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.295G>A (p.Val99Ile) single nucleotide variant See cases [RCV002252426] Chr17:82764024 [GRCh38]
Chr17:80721900 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1584C>G (p.His528Gln) single nucleotide variant not specified [RCV004328960] Chr17:82830730 [GRCh38]
Chr17:80788606 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.733C>T (p.Gln245Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001783848] Chr17:82781683 [GRCh38]
Chr17:80739559 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2867C>T (p.Ser956Phe) single nucleotide variant Inborn genetic diseases [RCV002539853]|not provided [RCV001754288] Chr17:82929376 [GRCh38]
Chr17:80887252 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001784165] Chr17:82927988 [GRCh38]
Chr17:80885864 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.449G>C (p.Arg150Pro) single nucleotide variant not provided [RCV003238104] Chr17:82768433 [GRCh38]
Chr17:80726309 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1913A>G (p.Gln638Arg) single nucleotide variant Inborn genetic diseases [RCV002540476]|not provided [RCV001774421] Chr17:82906044 [GRCh38]
Chr17:80863920 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004799671]|not provided [RCV001766006] Chr17:82929120 [GRCh38]
Chr17:80886996 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005993.5(TBCD):c.3476C>T (p.Ala1159Val) single nucleotide variant Inborn genetic diseases [RCV002538732]|not provided [RCV001754287] Chr17:82939473 [GRCh38]
Chr17:80897349 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2111A>G (p.Gln704Arg) single nucleotide variant not provided [RCV001766021] Chr17:82921510 [GRCh38]
Chr17:80879386 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1876G>T (p.Ala626Ser) single nucleotide variant not provided [RCV003120702]|not specified [RCV001815103] Chr17:82906007 [GRCh38]
Chr17:80863883 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.328G>A (p.Asp110Asn) single nucleotide variant not specified [RCV004267306] Chr17:82832127 [GRCh38]
Chr17:80790003 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2991G>A (p.Thr997=) single nucleotide variant not provided [RCV001777119] Chr17:82929500 [GRCh38]
Chr17:80887376 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_024702.3(ZNF750):c.627C>T (p.Ala209=) single nucleotide variant not provided [RCV004809246] Chr17:82831828 [GRCh38]
Chr17:80789704 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2181T>C (p.Asp727=) single nucleotide variant not provided [RCV004809178] Chr17:82923654 [GRCh38]
Chr17:80881530 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2825G>A (p.Arg942Gln) single nucleotide variant not provided [RCV004801619] Chr17:82929244 [GRCh38]
Chr17:80887120 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2164C>T (p.Arg722Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001823577] Chr17:82921563 [GRCh38]
Chr17:80879439 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1751C>T (p.Ala584Val) single nucleotide variant Inborn genetic diseases [RCV002579592]|not provided [RCV002025450] Chr17:82903425 [GRCh38]
Chr17:80861301 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.907C>T (p.Arg303Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV001839254]|not provided [RCV003728043] Chr17:82800953 [GRCh38]
Chr17:80758829 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.1906G>T (p.Ala636Ser) single nucleotide variant not provided [RCV001986138] Chr17:82906037 [GRCh38]
Chr17:80863913 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1979A>G (p.Gln660Arg) single nucleotide variant Inborn genetic diseases [RCV004970444]|not provided [RCV001915321] Chr17:82907817 [GRCh38]
Chr17:80865693 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80842001)_(80900339_?)dup duplication not provided [RCV002004859] Chr17:80842001..80900339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro) single nucleotide variant Inborn genetic diseases [RCV002548215]|See cases [RCV002252753]|not provided [RCV002023152] Chr17:82768525 [GRCh38]
Chr17:80726401 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1720C>T (p.His574Tyr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002052139]|Inborn genetic diseases [RCV002550509] Chr17:82900721 [GRCh38]
Chr17:80858597 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3310G>A (p.Asp1104Asn) single nucleotide variant Inborn genetic diseases [RCV004671621]|not provided [RCV002020764] Chr17:82938077 [GRCh38]
Chr17:80895953 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
GRCh37/hg19 17q25.3(chr17:80787030-81041938)x3 copy number gain not provided [RCV001827925] Chr17:80787030..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.802G>C (p.Asp268His) single nucleotide variant not provided [RCV002006817] Chr17:82797787 [GRCh38]
Chr17:80755663 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2702G>A (p.Arg901His) single nucleotide variant not provided [RCV001948953] Chr17:82929121 [GRCh38]
Chr17:80886997 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2425G>A (p.Val809Ile) single nucleotide variant TBCD-related disorder [RCV003923371]|not provided [RCV001945794] Chr17:82926445 [GRCh38]
Chr17:80884321 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2582C>T (p.Thr861Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003136233]|Inborn genetic diseases [RCV002551671]|not provided [RCV001873124] Chr17:82927296 [GRCh38]
Chr17:80885172 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
GRCh37/hg19 17q25.3(chr17:79976464-81041938) copy number loss not specified [RCV002052608] Chr17:79976464..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1874G>A (p.Cys625Tyr) single nucleotide variant not provided [RCV002042895] Chr17:82906005 [GRCh38]
Chr17:80863881 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2007-2A>G single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV005017037]|not provided [RCV002019248] Chr17:82911756 [GRCh38]
Chr17:80869632 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2884C>A (p.Pro962Thr) single nucleotide variant not provided [RCV001944314] Chr17:82929393 [GRCh38]
Chr17:80887269 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.38AGG[2] (p.Glu15del) microsatellite not provided [RCV001973186] Chr17:82752230..82752232 [GRCh38]
Chr17:80710106..80710108 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80710070)_(80724264_?)del deletion not provided [RCV001963095] Chr17:80710070..80724264 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1301C>T (p.Pro434Leu) single nucleotide variant Inborn genetic diseases [RCV004970717]|not provided [RCV002001412] Chr17:82814917 [GRCh38]
Chr17:80772793 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1494G>A (p.Ala498=) single nucleotide variant not provided [RCV001962089] Chr17:82884163 [GRCh38]
Chr17:80842039 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2039-1G>A single nucleotide variant not provided [RCV002037437] Chr17:82920555 [GRCh38]
Chr17:80878431 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2479C>G (p.Gln827Glu) single nucleotide variant not provided [RCV002019503] Chr17:82927193 [GRCh38]
Chr17:80885069 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2982G>A (p.Thr994=) single nucleotide variant not provided [RCV001982592] Chr17:82929491 [GRCh38]
Chr17:80887367 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2419G>A (p.Glu807Lys) single nucleotide variant Inborn genetic diseases [RCV002545561]|not provided [RCV002011681] Chr17:82926439 [GRCh38]
Chr17:80884315 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.3550C>T (p.Gln1184Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003138049]|not provided [RCV002026927] Chr17:82941469 [GRCh38]
Chr17:80899345 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.92G>A (p.Gly31Asp) single nucleotide variant not provided [RCV001919467] Chr17:82752285 [GRCh38]
Chr17:80710161 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.991C>G (p.Leu331Val) single nucleotide variant Inborn genetic diseases [RCV004041927]|not provided [RCV001931322] Chr17:82805915 [GRCh38]
Chr17:80763791 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.932C>T (p.Pro311Leu) single nucleotide variant not provided [RCV002014557] Chr17:82800978 [GRCh38]
Chr17:80758854 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1224-5C>G single nucleotide variant not provided [RCV001977484] Chr17:82814835 [GRCh38]
Chr17:80772711 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.653C>G (p.Pro218Arg) single nucleotide variant Inborn genetic diseases [RCV004970688]|not provided [RCV001978101] Chr17:82781603 [GRCh38]
Chr17:80739479 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1826T>G (p.Met609Arg) single nucleotide variant Inborn genetic diseases [RCV002554110]|not provided [RCV001875278] Chr17:82905957 [GRCh38]
Chr17:80863833 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1099G>T (p.Val367Phe) single nucleotide variant not provided [RCV001879564] Chr17:82807619 [GRCh38]
Chr17:80765495 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1783C>T (p.Pro595Ser) single nucleotide variant not provided [RCV001976606] Chr17:82903457 [GRCh38]
Chr17:80861333 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2990C>T (p.Thr997Met) single nucleotide variant not provided [RCV001920863] Chr17:82929499 [GRCh38]
Chr17:80887375 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1493C>T (p.Ala498Val) single nucleotide variant not provided [RCV002029839] Chr17:82884162 [GRCh38]
Chr17:80842038 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp) single nucleotide variant Inborn genetic diseases [RCV002555220]|not provided [RCV001898453] Chr17:82925046 [GRCh38]
Chr17:80882922 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.3289_3290delinsAG (p.Glu1097Arg) indel not provided [RCV001991574] Chr17:82938056..82938057 [GRCh38]
Chr17:80895932..80895933 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2609+5G>A single nucleotide variant not provided [RCV002049960] Chr17:82927328 [GRCh38]
Chr17:80885204 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.1369T>C (p.Cys457Arg) single nucleotide variant Inborn genetic diseases [RCV004041422]|not provided [RCV001884050] Chr17:82870274 [GRCh38]
Chr17:80828150 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3307G>C (p.Gly1103Arg) single nucleotide variant not provided [RCV001905416] Chr17:82938074 [GRCh38]
Chr17:80895950 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2452G>A (p.Gly818Ser) single nucleotide variant not provided [RCV001997976] Chr17:82926472 [GRCh38]
Chr17:80884348 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.449G>A (p.Arg150His) single nucleotide variant not provided [RCV001905004] Chr17:82768433 [GRCh38]
Chr17:80726309 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2300C>T (p.Pro767Leu) single nucleotide variant not provided [RCV001940647] Chr17:82924978 [GRCh38]
Chr17:80882854 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2723A>G (p.Gln908Arg) single nucleotide variant Inborn genetic diseases [RCV002557579]|not provided [RCV001903534] Chr17:82929142 [GRCh38]
Chr17:80887018 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2512G>A (p.Glu838Lys) single nucleotide variant not provided [RCV001919240] Chr17:82927226 [GRCh38]
Chr17:80885102 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3485C>T (p.Ala1162Val) single nucleotide variant Inborn genetic diseases [RCV004968415]|not provided [RCV001902411] Chr17:82941404 [GRCh38]
Chr17:80899280 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1454C>T (p.Pro485Leu) single nucleotide variant not provided [RCV002014930] Chr17:82870359 [GRCh38]
Chr17:80828235 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.908G>A (p.Arg303Gln) single nucleotide variant not provided [RCV001997673] Chr17:82800954 [GRCh38]
Chr17:80758830 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.127C>A (p.Leu43Met) single nucleotide variant not provided [RCV001999345] Chr17:82752320 [GRCh38]
Chr17:80710196 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3137C>T (p.Thr1046Met) single nucleotide variant not provided [RCV001885845] Chr17:82932681 [GRCh38]
Chr17:80890557 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.562C>T (p.Arg188Cys) single nucleotide variant not provided [RCV001903711] Chr17:82768546 [GRCh38]
Chr17:80726422 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1087+18G>A single nucleotide variant not provided [RCV002047924] Chr17:82806029 [GRCh38]
Chr17:80763905 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1048G>A (p.Glu350Lys) single nucleotide variant Inborn genetic diseases [RCV004968358]|not provided [RCV001876792] Chr17:82805972 [GRCh38]
Chr17:80763848 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.937G>T (p.Val313Leu) single nucleotide variant not provided [RCV001876851] Chr17:82800983 [GRCh38]
Chr17:80758859 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2853-3C>A single nucleotide variant not provided [RCV001953253] Chr17:82929359 [GRCh38]
Chr17:80887235 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.874C>G (p.Leu292Val) single nucleotide variant Inborn genetic diseases [RCV004970662]|TBCD-related disorder [RCV003426270]|not provided [RCV001979681] Chr17:82800920 [GRCh38]
Chr17:80758796 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1804+13C>G single nucleotide variant not provided [RCV002091754] Chr17:82903491 [GRCh38]
Chr17:80861367 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.141C>T (p.His47=) single nucleotide variant not provided [RCV002090834] Chr17:82752334 [GRCh38]
Chr17:80710210 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1254G>A (p.Gly418=) single nucleotide variant TBCD-related disorder [RCV003923551]|not provided [RCV002073697] Chr17:82814870 [GRCh38]
Chr17:80772746 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity
NM_005993.5(TBCD):c.3024C>T (p.Tyr1008=) single nucleotide variant not provided [RCV002090441] Chr17:82930554 [GRCh38]
Chr17:80888430 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-7T>C single nucleotide variant not provided [RCV002209562] Chr17:82942442 [GRCh38]
Chr17:80900318 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-5A>G single nucleotide variant not provided [RCV002190744] Chr17:82927900 [GRCh38]
Chr17:80885776 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3447C>T (p.Asp1149=) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003492738]|not provided [RCV002130436] Chr17:82939444 [GRCh38]
Chr17:80897320 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1318+18G>A single nucleotide variant not provided [RCV002126047] Chr17:82814952 [GRCh38]
Chr17:80772828 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.973T>C (p.Leu325=) single nucleotide variant not provided [RCV002089178] Chr17:82805897 [GRCh38]
Chr17:80763773 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2039-5T>C single nucleotide variant not provided [RCV002169533] Chr17:82920551 [GRCh38]
Chr17:80878427 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3281+20G>A single nucleotide variant not provided [RCV002110067] Chr17:82937380 [GRCh38]
Chr17:80895256 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3565-13_3565-9del deletion not provided [RCV002073745] Chr17:82942436..82942440 [GRCh38]
Chr17:80900312..80900316 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.306T>C (p.Ala102=) single nucleotide variant not provided [RCV002168056] Chr17:82764035 [GRCh38]
Chr17:80721911 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1671T>C (p.Pro557=) single nucleotide variant not provided [RCV002147118] Chr17:82900672 [GRCh38]
Chr17:80858548 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3516C>T (p.Asn1172=) single nucleotide variant not provided [RCV002148994] Chr17:82941435 [GRCh38]
Chr17:80899311 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.771+13C>T single nucleotide variant not provided [RCV002127185] Chr17:82781734 [GRCh38]
Chr17:80739610 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2700G>A (p.Glu900=) single nucleotide variant not provided [RCV002206646] Chr17:82929119 [GRCh38]
Chr17:80886995 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.350C>G (p.Thr117Arg) single nucleotide variant not provided [RCV002109531] Chr17:82766283 [GRCh38]
Chr17:80724159 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1922+18C>T single nucleotide variant not provided [RCV002126492] Chr17:82906071 [GRCh38]
Chr17:80863947 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1805-19T>C single nucleotide variant not provided [RCV002125472] Chr17:82905917 [GRCh38]
Chr17:80863793 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+8G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003492732]|not provided [RCV002085890] Chr17:82929508 [GRCh38]
Chr17:80887384 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1794C>T (p.Ser598=) single nucleotide variant not provided [RCV002190441] Chr17:82903468 [GRCh38]
Chr17:80861344 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.117G>A (p.Leu39=) single nucleotide variant not provided [RCV002152056] Chr17:82752310 [GRCh38]
Chr17:80710186 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.195C>T (p.Asp65=) single nucleotide variant not provided [RCV002206744] Chr17:82756175 [GRCh38]
Chr17:80714051 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-16C>T single nucleotide variant not provided [RCV002116177] Chr17:82924923 [GRCh38]
Chr17:80882799 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2609+4C>T single nucleotide variant Inborn genetic diseases [RCV003081010]|TBCD-related disorder [RCV003958883]|not provided [RCV002131774]|not specified [RCV004700663] Chr17:82927327 [GRCh38]
Chr17:80885203 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3276C>T (p.Ile1092=) single nucleotide variant not provided [RCV002210507] Chr17:82937355 [GRCh38]
Chr17:80895231 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.436-18C>T single nucleotide variant not provided [RCV002133670] Chr17:82768402 [GRCh38]
Chr17:80726278 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2193G>A (p.Ser731=) single nucleotide variant not provided [RCV002192679] Chr17:82923666 [GRCh38]
Chr17:80881542 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+10C>G single nucleotide variant not provided [RCV002073957] Chr17:82929510 [GRCh38]
Chr17:80887386 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+12G>A single nucleotide variant not provided [RCV002196505] Chr17:82928000 [GRCh38]
Chr17:80885876 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+18G>C single nucleotide variant not provided [RCV002126144] Chr17:82927341 [GRCh38]
Chr17:80885217 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.115C>G (p.Leu39Val) single nucleotide variant TBCD-related disorder [RCV003911284]|not provided [RCV002209754] Chr17:82752308 [GRCh38]
Chr17:80710184 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1431C>A (p.Ala477=) single nucleotide variant not provided [RCV002092906] Chr17:82870336 [GRCh38]
Chr17:80828212 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.30C>T (p.Gly10=) single nucleotide variant not provided [RCV002215537] Chr17:82752223 [GRCh38]
Chr17:80710099 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1149-16T>C single nucleotide variant not provided [RCV002151028] Chr17:82809692 [GRCh38]
Chr17:80767568 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3147C>T (p.His1049=) single nucleotide variant not provided [RCV002094343] Chr17:82932691 [GRCh38]
Chr17:80890567 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-6_583-5dup duplication not provided [RCV002151346] Chr17:82772445..82772446 [GRCh38]
Chr17:80730321..80730322 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2178+5A>G single nucleotide variant not provided [RCV002078524]|not specified [RCV003323980] Chr17:82921582 [GRCh38]
Chr17:80879458 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2349A>G (p.Pro783=) single nucleotide variant not provided [RCV002174547] Chr17:82925027 [GRCh38]
Chr17:80882903 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.333+20del deletion not provided [RCV002131800] Chr17:82764081 [GRCh38]
Chr17:80721957 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-10C>T single nucleotide variant not provided [RCV002079276] Chr17:82929103 [GRCh38]
Chr17:80886979 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+22dup duplication not provided [RCV002176927] Chr17:82766384..82766385 [GRCh38]
Chr17:80724260..80724261 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3020A>C (p.Glu1007Ala) single nucleotide variant not provided [RCV002197822] Chr17:82930550 [GRCh38]
Chr17:80888426 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3120C>T (p.Ser1040=) single nucleotide variant not provided [RCV002218544] Chr17:82932664 [GRCh38]
Chr17:80890540 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.436-6T>G single nucleotide variant not provided [RCV002136266] Chr17:82768414 [GRCh38]
Chr17:80726290 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1806C>G (p.Val602=) single nucleotide variant not provided [RCV002202611] Chr17:82905937 [GRCh38]
Chr17:80863813 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1101C>G (p.Val367=) single nucleotide variant not provided [RCV002180190] Chr17:82807621 [GRCh38]
Chr17:80765497 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1223+8A>T single nucleotide variant TBCD-related disorder [RCV003933352]|not provided [RCV002219886] Chr17:82809790 [GRCh38]
Chr17:80767666 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.4(TBCD):c.1150_1171del deletion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003155472]|TBCD-related disorder [RCV003403753]|not provided [RCV002247180] Chr17:82809707..82809728 [GRCh38]
Chr17:80767583..80767604 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.184+14G>A single nucleotide variant not provided [RCV002204297] Chr17:82752391 [GRCh38]
Chr17:80710267 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1805-20C>G single nucleotide variant not provided [RCV002084078] Chr17:82905916 [GRCh38]
Chr17:80863792 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.840C>T (p.Leu280=) single nucleotide variant not provided [RCV002144016] Chr17:82800886 [GRCh38]
Chr17:80758762 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2599G>A (p.Val867Met) single nucleotide variant See cases [RCV002252865] Chr17:82927313 [GRCh38]
Chr17:80885189 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2293C>T (p.Arg765Trp) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002471267]|not provided [RCV002254134] Chr17:82924971 [GRCh38]
Chr17:80882847 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2950C>T (p.Leu984=) single nucleotide variant not provided [RCV002161153] Chr17:82929459 [GRCh38]
Chr17:80887335 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1272A>G (p.Ala424=) single nucleotide variant not provided [RCV002200574] Chr17:82814888 [GRCh38]
Chr17:80772764 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-20G>A single nucleotide variant not provided [RCV002181345] Chr17:82927885 [GRCh38]
Chr17:80885761 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2739G>A (p.Lys913=) single nucleotide variant not provided [RCV002138204] Chr17:82929158 [GRCh38]
Chr17:80887034 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.474C>T (p.Ser158=) single nucleotide variant TBCD-related disorder [RCV003971150]|not provided [RCV002181683] Chr17:82768458 [GRCh38]
Chr17:80726334 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_005993.5(TBCD):c.3366G>A (p.Pro1122=) single nucleotide variant TBCD-related disorder [RCV003958497]|not provided [RCV002162328] Chr17:82938133 [GRCh38]
Chr17:80896009 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2961C>T (p.Val987=) single nucleotide variant not provided [RCV002119428] Chr17:82929470 [GRCh38]
Chr17:80887346 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+15C>T single nucleotide variant not provided [RCV002202049] Chr17:82870395 [GRCh38]
Chr17:80828271 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2379+16C>T single nucleotide variant not provided [RCV002135798] Chr17:82925073 [GRCh38]
Chr17:80882949 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.958C>A (p.Arg320Ser) single nucleotide variant not provided [RCV003109870] Chr17:82805882 [GRCh38]
Chr17:80763758 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1679C>T (p.Thr560Met) single nucleotide variant not provided [RCV003115918] Chr17:82900680 [GRCh38]
Chr17:80858556 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80710070)_(80901020_?)del deletion not provided [RCV003116468] Chr17:80710070..80901020 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80851403)_(80851528_?)del deletion not provided [RCV003116469] Chr17:80851403..80851528 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80847524)_(80901020_?)del deletion not provided [RCV003116470] Chr17:80847524..80901020 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80828080)_(80901020_?)dup duplication not provided [RCV003116471] Chr17:80828080..80901020 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80755613)_(80772830_?)dup duplication not provided [RCV003116472] Chr17:80755613..80772830 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3282-6C>T single nucleotide variant not provided [RCV003117219] Chr17:82938043 [GRCh38]
Chr17:80895919 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2578A>G (p.Thr860Ala) single nucleotide variant not provided [RCV003112887] Chr17:82927292 [GRCh38]
Chr17:80885168 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3542C>T (p.Pro1181Leu) single nucleotide variant not provided [RCV003112951] Chr17:82941461 [GRCh38]
Chr17:80899337 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2981C>T (p.Thr994Met) single nucleotide variant not provided [RCV003123176] Chr17:82929490 [GRCh38]
Chr17:80887366 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_79477716)_(80900339_?)dup duplication not provided [RCV003122586] Chr17:79477716..80900339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80332201)_(80758892_?)dup duplication not provided [RCV003122337] Chr17:80332201..80758892 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3059G>A (p.Gly1020Asp) single nucleotide variant not provided [RCV003120388] Chr17:82930589 [GRCh38]
Chr17:80888465 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1723_1724dup (p.Trp575fs) duplication Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004797217] Chr17:82900723..82900724 [GRCh38]
Chr17:80858599..80858600 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1877C>T (p.Ala626Val) single nucleotide variant not provided [RCV004778275] Chr17:82906008 [GRCh38]
Chr17:80863884 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3137C>A (p.Thr1046Lys) single nucleotide variant not provided [RCV003231856] Chr17:82932681 [GRCh38]
Chr17:80890557 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.649C>T (p.Arg217Cys) single nucleotide variant not provided [RCV002297089] Chr17:82781599 [GRCh38]
Chr17:80739475 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_005993.5(TBCD):c.1240A>G (p.Lys414Glu) single nucleotide variant not provided [RCV002275439] Chr17:82814856 [GRCh38]
Chr17:80772732 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3562C>T (p.Gln1188Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002273131] Chr17:82941481 [GRCh38]
Chr17:80899357 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1 copy number loss not provided [RCV002279761] Chr17:80583397..81044553 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3 copy number gain Isolated anorectal malformation [RCV002286611] Chr17:80509676..81162701 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.818C>T (p.Ala273Val) single nucleotide variant not provided [RCV002293748] Chr17:82800864 [GRCh38]
Chr17:80758740 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002286461] Chr17:82805930 [GRCh38]
Chr17:80763806 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.1306C>T (p.Arg436Ter) single nucleotide variant not provided [RCV002274683] Chr17:82814922 [GRCh38]
Chr17:80772798 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.3453G>A (p.Val1151=) single nucleotide variant not provided [RCV002260783] Chr17:82939450 [GRCh38]
Chr17:80897326 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1327G>A (p.Val443Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003138134]|not provided [RCV002260784] Chr17:82870232 [GRCh38]
Chr17:80828108 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.110G>A (p.Arg37Gln) single nucleotide variant Inborn genetic diseases [RCV003259820] Chr17:82752303 [GRCh38]
Chr17:80710179 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.787G>A (p.Gly263Arg) single nucleotide variant not specified [RCV004329104] Chr17:82831668 [GRCh38]
Chr17:80789544 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2560G>A (p.Gly854Ser) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002471740] Chr17:82927274 [GRCh38]
Chr17:80885150 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:80809608-81041938)x3 copy number gain not provided [RCV002474704] Chr17:80809608..81041938 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.10A>T (p.Ser4Cys) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV002471788] Chr17:82752203 [GRCh38]
Chr17:80710079 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2443A>G (p.Arg815Gly) single nucleotide variant not provided [RCV002299211] Chr17:82926463 [GRCh38]
Chr17:80884339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.325A>G (p.Ile109Val) single nucleotide variant not provided [RCV002299385] Chr17:82764054 [GRCh38]
Chr17:80721930 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2853-17C>T single nucleotide variant not provided [RCV002858197] Chr17:82929345 [GRCh38]
Chr17:80887221 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-16C>T single nucleotide variant not provided [RCV002774919] Chr17:82942433 [GRCh38]
Chr17:80900309 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1238G>A (p.Gly413Glu) single nucleotide variant not specified [RCV004139289] Chr17:82831217 [GRCh38]
Chr17:80789093 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.817G>A (p.Ala273Thr) single nucleotide variant not provided [RCV002993588] Chr17:82797802 [GRCh38]
Chr17:80755678 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3192-12T>G single nucleotide variant not provided [RCV002776442] Chr17:82937259 [GRCh38]
Chr17:80895135 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3008A>G (p.Gln1003Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003138318]|not provided [RCV002636120] Chr17:82930538 [GRCh38]
Chr17:80888414 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1321G>A (p.Ala441Thr) single nucleotide variant not specified [RCV004210000] Chr17:82831134 [GRCh38]
Chr17:80789010 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3512G>A (p.Arg1171His) single nucleotide variant not provided [RCV003073565] Chr17:82941431 [GRCh38]
Chr17:80899307 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2993T>G (p.Ile998Ser) single nucleotide variant Inborn genetic diseases [RCV002733274] Chr17:82930523 [GRCh38]
Chr17:80888399 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3369+19T>C single nucleotide variant not provided [RCV003015825] Chr17:82938155 [GRCh38]
Chr17:80896031 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3282-19C>A single nucleotide variant not provided [RCV002948296] Chr17:82938030 [GRCh38]
Chr17:80895906 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.256G>A (p.Ala86Thr) single nucleotide variant not specified [RCV004139002] Chr17:82832199 [GRCh38]
Chr17:80790075 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.19C>T (p.Arg7Trp) single nucleotide variant not specified [RCV004121269] Chr17:82832436 [GRCh38]
Chr17:80790312 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1597C>G (p.Gln533Glu) single nucleotide variant not specified [RCV004240432] Chr17:82830717 [GRCh38]
Chr17:80788593 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3277G>A (p.Ala1093Thr) single nucleotide variant Inborn genetic diseases [RCV002687223]|TBCD-related disorder [RCV003420416]|not provided [RCV005099506] Chr17:82937356 [GRCh38]
Chr17:80895232 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.954C>T (p.Tyr318=) single nucleotide variant not provided [RCV002863346] Chr17:82805878 [GRCh38]
Chr17:80763754 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV002775412] Chr17:82814923 [GRCh38]
Chr17:80772799 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2632A>G (p.Ser878Gly) single nucleotide variant not provided [RCV002995753] Chr17:82927927 [GRCh38]
Chr17:80885803 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3305C>T (p.Pro1102Leu) single nucleotide variant not provided [RCV002617008] Chr17:82938072 [GRCh38]
Chr17:80895948 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2992-9G>A single nucleotide variant not provided [RCV002615541] Chr17:82930513 [GRCh38]
Chr17:80888389 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.496G>A (p.Gly166Ser) single nucleotide variant not specified [RCV004193685] Chr17:82831959 [GRCh38]
Chr17:80789835 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3480-16C>T single nucleotide variant not provided [RCV002776273] Chr17:82941383 [GRCh38]
Chr17:80899259 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.704A>T (p.Asn235Ile) single nucleotide variant Inborn genetic diseases [RCV002837062] Chr17:82781654 [GRCh38]
Chr17:80739530 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1420G>A (p.Ala474Thr) single nucleotide variant not specified [RCV004195212] Chr17:82831035 [GRCh38]
Chr17:80788911 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.818-11C>T single nucleotide variant not provided [RCV002974974] Chr17:82800853 [GRCh38]
Chr17:80758729 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.2109G>C (p.Lys703Asn) single nucleotide variant not specified [RCV004170173] Chr17:82830205 [GRCh38]
Chr17:80788081 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1519G>A (p.Asp507Asn) single nucleotide variant not specified [RCV004221623] Chr17:82830795 [GRCh38]
Chr17:80788671 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2910C>T (p.Thr970=) single nucleotide variant not provided [RCV002731105] Chr17:82929419 [GRCh38]
Chr17:80887295 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2780C>T (p.Thr927Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140218]|Inborn genetic diseases [RCV002684635]|not provided [RCV005099071] Chr17:82929199 [GRCh38]
Chr17:80887075 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2847T>C (p.Phe949=) single nucleotide variant not provided [RCV002690230] Chr17:82929266 [GRCh38]
Chr17:80887142 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1148+3A>G single nucleotide variant not provided [RCV002617405] Chr17:82807671 [GRCh38]
Chr17:80765547 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3424G>A (p.Val1142Ile) single nucleotide variant Inborn genetic diseases [RCV002996321]|not provided [RCV002996320] Chr17:82939421 [GRCh38]
Chr17:80897297 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2166C>T (p.Arg722=) single nucleotide variant not provided [RCV003017221] Chr17:82921565 [GRCh38]
Chr17:80879441 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.168C>T (p.Ala56=) single nucleotide variant not provided [RCV003097533] Chr17:82752361 [GRCh38]
Chr17:80710237 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3047C>T (p.Pro1016Leu) single nucleotide variant not provided [RCV003076494] Chr17:82930577 [GRCh38]
Chr17:80888453 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2192C>T (p.Ser731Leu) single nucleotide variant not provided [RCV002785821] Chr17:82923665 [GRCh38]
Chr17:80881541 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.662A>C (p.Lys221Thr) single nucleotide variant not provided [RCV002825058] Chr17:82781612 [GRCh38]
Chr17:80739488 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2095G>A (p.Val699Ile) single nucleotide variant Inborn genetic diseases [RCV002948916]|not provided [RCV002933955] Chr17:82920612 [GRCh38]
Chr17:80878488 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1238G>C (p.Gly413Ala) single nucleotide variant not specified [RCV004132503] Chr17:82831217 [GRCh38]
Chr17:80789093 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2328G>A (p.Ser776=) single nucleotide variant not provided [RCV003079493] Chr17:82925006 [GRCh38]
Chr17:80882882 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+16G>A single nucleotide variant not provided [RCV002658485] Chr17:82870396 [GRCh38]
Chr17:80828272 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+11A>G single nucleotide variant not provided [RCV002571959] Chr17:82926502 [GRCh38]
Chr17:80884378 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1200C>T (p.Val400=) single nucleotide variant not provided [RCV002979458] Chr17:82809759 [GRCh38]
Chr17:80767635 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1945G>A (p.Glu649Lys) single nucleotide variant not provided [RCV002592436] Chr17:82907783 [GRCh38]
Chr17:80865659 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.334-11_334-10del deletion not provided [RCV002871277] Chr17:82766255..82766256 [GRCh38]
Chr17:80724131..80724132 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1837C>T (p.Pro613Ser) single nucleotide variant Inborn genetic diseases [RCV002821083] Chr17:82905968 [GRCh38]
Chr17:80863844 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2964G>C (p.Val988=) single nucleotide variant not provided [RCV002846783] Chr17:82929473 [GRCh38]
Chr17:80887349 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.694T>A (p.Ser232Thr) single nucleotide variant not specified [RCV004164032] Chr17:82831761 [GRCh38]
Chr17:80789637 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.612A>G (p.Arg204=) single nucleotide variant not provided [RCV002590646] Chr17:82772481 [GRCh38]
Chr17:80730357 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1236T>A (p.Thr412=) single nucleotide variant not provided [RCV002591032] Chr17:82814852 [GRCh38]
Chr17:80772728 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2994C>G (p.Ile998Met) single nucleotide variant not provided [RCV002760517] Chr17:82930524 [GRCh38]
Chr17:80888400 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1265C>T (p.Ala422Val) single nucleotide variant Inborn genetic diseases [RCV002693277]|not provided [RCV003730369] Chr17:82814881 [GRCh38]
Chr17:80772757 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_024702.3(ZNF750):c.1715C>A (p.Pro572Gln) single nucleotide variant not specified [RCV004236966] Chr17:82830599 [GRCh38]
Chr17:80788475 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3348C>G (p.Leu1116=) single nucleotide variant not provided [RCV002909730] Chr17:82938115 [GRCh38]
Chr17:80895991 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1385A>G (p.Asn462Ser) single nucleotide variant not provided [RCV002591880] Chr17:82870290 [GRCh38]
Chr17:80828166 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2091C>T (p.Asp697=) single nucleotide variant not provided [RCV002569983] Chr17:82920608 [GRCh38]
Chr17:80878484 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.958C>T (p.Arg320Cys) single nucleotide variant not provided [RCV003078553] Chr17:82805882 [GRCh38]
Chr17:80763758 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1699C>G (p.Leu567Val) single nucleotide variant Inborn genetic diseases [RCV002953241]|not provided [RCV002953242] Chr17:82900700 [GRCh38]
Chr17:80858576 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3466A>G (p.Ser1156Gly) single nucleotide variant not provided [RCV002621976] Chr17:82939463 [GRCh38]
Chr17:80897339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1334T>A (p.Leu445Gln) single nucleotide variant not provided [RCV002569715] Chr17:82870239 [GRCh38]
Chr17:80828115 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1761G>A (p.Leu587=) single nucleotide variant not provided [RCV002621806] Chr17:82903435 [GRCh38]
Chr17:80861311 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1311C>T (p.Leu437=) single nucleotide variant not provided [RCV003002192] Chr17:82814927 [GRCh38]
Chr17:80772803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1795G>A (p.Ala599Thr) single nucleotide variant not provided [RCV002913580] Chr17:82903469 [GRCh38]
Chr17:80861345 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2066G>C (p.Arg689Thr) single nucleotide variant not specified [RCV004132055] Chr17:82830248 [GRCh38]
Chr17:80788124 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1318+13_1318+102del deletion not provided [RCV003100447] Chr17:82814919..82815008 [GRCh38]
Chr17:80772795..80772884 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2770G>A (p.Val924Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003138351]|not provided [RCV002780988] Chr17:82929189 [GRCh38]
Chr17:80887065 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2583G>A (p.Thr861=) single nucleotide variant not provided [RCV003002671] Chr17:82927297 [GRCh38]
Chr17:80885173 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1984-17C>T single nucleotide variant not provided [RCV002659098] Chr17:82909268 [GRCh38]
Chr17:80867144 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1715T>C (p.Ile572Thr) single nucleotide variant not provided [RCV002621289] Chr17:82900716 [GRCh38]
Chr17:80858592 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.82G>A (p.Glu28Lys) single nucleotide variant Inborn genetic diseases [RCV002571711]|not provided [RCV002571710] Chr17:82752275 [GRCh38]
Chr17:80710151 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2451C>T (p.Asp817=) single nucleotide variant not provided [RCV002620374] Chr17:82926471 [GRCh38]
Chr17:80884347 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2153C>T (p.Ser718Leu) single nucleotide variant not provided [RCV002761106] Chr17:82921552 [GRCh38]
Chr17:80879428 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1906G>A (p.Val636Met) single nucleotide variant not specified [RCV004227045] Chr17:82830408 [GRCh38]
Chr17:80788284 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.243G>A (p.Met81Ile) single nucleotide variant not provided [RCV002843926] Chr17:82763972 [GRCh38]
Chr17:80721848 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2904C>T (p.Arg968=) single nucleotide variant not provided [RCV002590353] Chr17:82929413 [GRCh38]
Chr17:80887289 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1148+9C>G single nucleotide variant not provided [RCV002909979] Chr17:82807677 [GRCh38]
Chr17:80765553 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.184+18C>T single nucleotide variant not provided [RCV002593644] Chr17:82752395 [GRCh38]
Chr17:80710271 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3433G>A (p.Ala1145Thr) single nucleotide variant Inborn genetic diseases [RCV002768429] Chr17:82939430 [GRCh38]
Chr17:80897306 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.950+14G>A single nucleotide variant not provided [RCV002805774] Chr17:82801010 [GRCh38]
Chr17:80758886 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1067T>A (p.Val356Asp) single nucleotide variant not specified [RCV004215610] Chr17:82831388 [GRCh38]
Chr17:80789264 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2298C>T (p.Asn766=) single nucleotide variant not provided [RCV002766128] Chr17:82924976 [GRCh38]
Chr17:80882852 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-13T>C single nucleotide variant not provided [RCV002928521] Chr17:82929100 [GRCh38]
Chr17:80886976 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-18C>T single nucleotide variant not provided [RCV002596802] Chr17:82900633 [GRCh38]
Chr17:80858509 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+19G>A single nucleotide variant not provided [RCV002830215] Chr17:82752396 [GRCh38]
Chr17:80710272 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3370-19C>T single nucleotide variant not provided [RCV002596890] Chr17:82939348 [GRCh38]
Chr17:80897224 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-19T>G single nucleotide variant not provided [RCV002853145] Chr17:82900632 [GRCh38]
Chr17:80858508 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1578T>C (p.His526=) single nucleotide variant not provided [RCV002915073] Chr17:82893561 [GRCh38]
Chr17:80851437 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3389G>A (p.Ser1130Asn) single nucleotide variant not provided [RCV003085107] Chr17:82939386 [GRCh38]
Chr17:80897262 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.769T>C (p.Ser257Pro) single nucleotide variant not specified [RCV004166618] Chr17:82831686 [GRCh38]
Chr17:80789562 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2329T>C (p.Leu777=) single nucleotide variant not provided [RCV002802163] Chr17:82925007 [GRCh38]
Chr17:80882883 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2369G>A (p.Arg790Gln) single nucleotide variant Inborn genetic diseases [RCV002788188]|not provided [RCV003720668] Chr17:82925047 [GRCh38]
Chr17:80882923 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005993.5(TBCD):c.3483C>T (p.Asp1161=) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003492790]|not provided [RCV002982622] Chr17:82941402 [GRCh38]
Chr17:80899278 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2178+18G>A single nucleotide variant not provided [RCV002625636] Chr17:82921595 [GRCh38]
Chr17:80879471 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.9G>C (p.Leu3=) single nucleotide variant not provided [RCV002625796] Chr17:82752202 [GRCh38]
Chr17:80710078 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1180G>T (p.Ala394Ser) single nucleotide variant not provided [RCV002710905] Chr17:82809739 [GRCh38]
Chr17:80767615 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.771+14G>C single nucleotide variant not provided [RCV002852425] Chr17:82781735 [GRCh38]
Chr17:80739611 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2987C>T (p.Ser996Leu) single nucleotide variant not provided [RCV003003382] Chr17:82929496 [GRCh38]
Chr17:80887372 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2528A>G (p.Glu843Gly) single nucleotide variant not provided [RCV003083398] Chr17:82927242 [GRCh38]
Chr17:80885118 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-12C>T single nucleotide variant not provided [RCV002667774] Chr17:82929101 [GRCh38]
Chr17:80886977 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.866A>G (p.Asn289Ser) single nucleotide variant not provided [RCV003023244] Chr17:82800912 [GRCh38]
Chr17:80758788 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2137C>T (p.His713Tyr) single nucleotide variant Inborn genetic diseases [RCV002928367]|not provided [RCV002928368] Chr17:82921536 [GRCh38]
Chr17:80879412 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_024702.3(ZNF750):c.269C>T (p.Ser90Phe) single nucleotide variant not specified [RCV004161487] Chr17:82832186 [GRCh38]
Chr17:80790062 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2720C>T (p.Ala907Val) single nucleotide variant Inborn genetic diseases [RCV002698073]|not provided [RCV005099058] Chr17:82929139 [GRCh38]
Chr17:80887015 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.334-18C>T single nucleotide variant not provided [RCV002667112] Chr17:82766249 [GRCh38]
Chr17:80724125 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1174C>T (p.Pro392Ser) single nucleotide variant Inborn genetic diseases [RCV004681537]|not provided [RCV002712027] Chr17:82809733 [GRCh38]
Chr17:80767609 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3480-10C>T single nucleotide variant not provided [RCV002701476] Chr17:82941389 [GRCh38]
Chr17:80899265 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1125C>T (p.Val375=) single nucleotide variant not provided [RCV002625815] Chr17:82807645 [GRCh38]
Chr17:80765521 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2524G>A (p.Gly842Arg) single nucleotide variant Inborn genetic diseases [RCV002986111]|not provided [RCV003730334] Chr17:82927238 [GRCh38]
Chr17:80885114 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2387C>T (p.Thr796Ile) single nucleotide variant not provided [RCV002701550] Chr17:82926407 [GRCh38]
Chr17:80884283 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2379+15G>A single nucleotide variant not provided [RCV002594235] Chr17:82925072 [GRCh38]
Chr17:80882948 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+13C>T single nucleotide variant not provided [RCV002740610] Chr17:82929513 [GRCh38]
Chr17:80887389 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-9C>G single nucleotide variant TBCD-related disorder [RCV003961254]|not provided [RCV002957672] Chr17:82900642 [GRCh38]
Chr17:80858518 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2511C>T (p.Asp837=) single nucleotide variant not provided [RCV002623968] Chr17:82927225 [GRCh38]
Chr17:80885101 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.553A>G (p.Ile185Val) single nucleotide variant Inborn genetic diseases [RCV003170638]|not provided [RCV002957643] Chr17:82768537 [GRCh38]
Chr17:80726413 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1087+4C>T single nucleotide variant TBCD-related disorder [RCV003906381]|not provided [RCV002958224] Chr17:82806015 [GRCh38]
Chr17:80763891 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.2389G>A (p.Gly797Ser) single nucleotide variant not provided [RCV002766552] Chr17:82926409 [GRCh38]
Chr17:80884285 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2304G>A (p.Glu768=) single nucleotide variant not provided [RCV002741797] Chr17:82924982 [GRCh38]
Chr17:80882858 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2523C>T (p.Cys841=) single nucleotide variant not provided [RCV002596866] Chr17:82927237 [GRCh38]
Chr17:80885113 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1810C>T (p.Pro604Ser) single nucleotide variant TBCD-related disorder [RCV003916648]|not provided [RCV002957464] Chr17:82905941 [GRCh38]
Chr17:80863817 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1439C>T (p.Pro480Leu) single nucleotide variant not provided [RCV002851527] Chr17:82870344 [GRCh38]
Chr17:80828220 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1923-19T>C single nucleotide variant not provided [RCV002790230] Chr17:82907742 [GRCh38]
Chr17:80865618 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-4A>T single nucleotide variant not provided [RCV003042328] Chr17:82807604 [GRCh38]
Chr17:80765480 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1551T>C (p.Asn517=) single nucleotide variant not provided [RCV002574826] Chr17:82889685 [GRCh38]
Chr17:80847561 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-2A>G single nucleotide variant not provided [RCV002928708] Chr17:82807606 [GRCh38]
Chr17:80765482 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2101+13G>A single nucleotide variant not provided [RCV002572284] Chr17:82920631 [GRCh38]
Chr17:80878507 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2366G>C (p.Gly789Ala) single nucleotide variant Inborn genetic diseases [RCV002717718] Chr17:82925044 [GRCh38]
Chr17:80882920 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2012G>A (p.Ser671Asn) single nucleotide variant not specified [RCV004123463] Chr17:82830302 [GRCh38]
Chr17:80788178 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3098A>G (p.Asn1033Ser) single nucleotide variant not provided [RCV003088777] Chr17:82930628 [GRCh38]
Chr17:80888504 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2340C>T (p.Gly780=) single nucleotide variant not provided [RCV002938374] Chr17:82925018 [GRCh38]
Chr17:80882894 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3479+11G>A single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003138323]|not provided [RCV002649888] Chr17:82939487 [GRCh38]
Chr17:80897363 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1104G>A (p.Gly368=) single nucleotide variant not provided [RCV002581476] Chr17:82807624 [GRCh38]
Chr17:80765500 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2869G>A (p.Val957Met) single nucleotide variant Inborn genetic diseases [RCV002703016] Chr17:82929378 [GRCh38]
Chr17:80887254 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1001A>G (p.Gln334Arg) single nucleotide variant Inborn genetic diseases [RCV004965929]|not provided [RCV002581201] Chr17:82805925 [GRCh38]
Chr17:80763801 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1074G>A (p.Val358=) single nucleotide variant not provided [RCV002651360] Chr17:82805998 [GRCh38]
Chr17:80763874 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+19A>G single nucleotide variant not provided [RCV002578655] Chr17:82889716 [GRCh38]
Chr17:80847592 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1319-10C>G single nucleotide variant not provided [RCV002631731] Chr17:82870214 [GRCh38]
Chr17:80828090 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.758C>T (p.Thr253Met) single nucleotide variant Inborn genetic diseases [RCV004965898]|not provided [RCV002579758] Chr17:82781708 [GRCh38]
Chr17:80739584 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.3479+18del deletion not provided [RCV002630731] Chr17:82939493 [GRCh38]
Chr17:80897369 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2623G>A (p.Ala875Thr) single nucleotide variant not provided [RCV003026920] Chr17:82927918 [GRCh38]
Chr17:80885794 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.726G>C (p.Gln242His) single nucleotide variant not provided [RCV002630420] Chr17:82781676 [GRCh38]
Chr17:80739552 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3423C>T (p.Asp1141=) single nucleotide variant not provided [RCV002962170] Chr17:82939420 [GRCh38]
Chr17:80897296 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3288C>T (p.Cys1096=) single nucleotide variant not provided [RCV002832847] Chr17:82938055 [GRCh38]
Chr17:80895931 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2208A>G (p.Leu736=) single nucleotide variant not provided [RCV002646380] Chr17:82923681 [GRCh38]
Chr17:80881557 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2164C>A (p.Arg722Ser) single nucleotide variant Inborn genetic diseases [RCV002855282] Chr17:82921563 [GRCh38]
Chr17:80879439 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1629C>G (p.Ser543=) single nucleotide variant not provided [RCV002577314] Chr17:82893612 [GRCh38]
Chr17:80851488 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.950+18G>A single nucleotide variant not provided [RCV002720253] Chr17:82801014 [GRCh38]
Chr17:80758890 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1738C>T (p.Arg580Ter) single nucleotide variant not provided [RCV002746592] Chr17:82903412 [GRCh38]
Chr17:80861288 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.54C>G (p.Asp18Glu) single nucleotide variant Inborn genetic diseases [RCV002896286] Chr17:82752247 [GRCh38]
Chr17:80710123 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1695C>A (p.Asp565Glu) single nucleotide variant Inborn genetic diseases [RCV002674222] Chr17:82900696 [GRCh38]
Chr17:80858572 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3192-13G>A single nucleotide variant not provided [RCV002601455] Chr17:82937258 [GRCh38]
Chr17:80895134 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3320G>C (p.Arg1107Thr) single nucleotide variant not provided [RCV002966225] Chr17:82938087 [GRCh38]
Chr17:80895963 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.321C>T (p.Tyr107=) single nucleotide variant not provided [RCV003028083] Chr17:82764050 [GRCh38]
Chr17:80721926 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1504C>A (p.Arg502=) single nucleotide variant not provided [RCV002646088] Chr17:82884173 [GRCh38]
Chr17:80842049 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1976A>G (p.His659Arg) single nucleotide variant not provided [RCV003027275] Chr17:82907814 [GRCh38]
Chr17:80865690 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1319-3C>T single nucleotide variant not provided [RCV003046333] Chr17:82870221 [GRCh38]
Chr17:80828097 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1148+16C>T single nucleotide variant not provided [RCV002671947] Chr17:82807684 [GRCh38]
Chr17:80765560 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1733C>G (p.Ala578Gly) single nucleotide variant not specified [RCV004072327] Chr17:82830581 [GRCh38]
Chr17:80788457 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1353C>T (p.Asp451=) single nucleotide variant not provided [RCV002599613] Chr17:82870258 [GRCh38]
Chr17:80828134 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.565G>A (p.Ala189Thr) single nucleotide variant not specified [RCV004210167] Chr17:82831890 [GRCh38]
Chr17:80789766 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1372A>G (p.Ser458Gly) single nucleotide variant not provided [RCV002833730] Chr17:82870277 [GRCh38]
Chr17:80828153 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.638+8T>C single nucleotide variant not provided [RCV002650381] Chr17:82772515 [GRCh38]
Chr17:80730391 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2616C>T (p.Arg872=) single nucleotide variant not provided [RCV002602651] Chr17:82927911 [GRCh38]
Chr17:80885787 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.453C>T (p.Tyr151=) single nucleotide variant not provided [RCV003028660] Chr17:82768437 [GRCh38]
Chr17:80726313 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3160G>A (p.Gly1054Ser) single nucleotide variant Inborn genetic diseases [RCV002632826]|not provided [RCV002632825] Chr17:82932704 [GRCh38]
Chr17:80890580 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.771+14G>T single nucleotide variant not provided [RCV002579840] Chr17:82781735 [GRCh38]
Chr17:80739611 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3006C>G (p.Thr1002=) single nucleotide variant not provided [RCV003045147] Chr17:82930536 [GRCh38]
Chr17:80888412 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2549G>A (p.Cys850Tyr) single nucleotide variant Inborn genetic diseases [RCV004068440]|not provided [RCV003011278] Chr17:82927263 [GRCh38]
Chr17:80885139 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.475G>A (p.Val159Met) single nucleotide variant not provided [RCV002877305] Chr17:82768459 [GRCh38]
Chr17:80726335 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.535G>C (p.Gly179Arg) single nucleotide variant Inborn genetic diseases [RCV002877903] Chr17:82768519 [GRCh38]
Chr17:80726395 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1864A>G (p.Ile622Val) single nucleotide variant Inborn genetic diseases [RCV004965930]|not provided [RCV002581202] Chr17:82905995 [GRCh38]
Chr17:80863871 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.3207G>C (p.Val1069=) single nucleotide variant not provided [RCV002856546] Chr17:82937286 [GRCh38]
Chr17:80895162 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1122G>A (p.Thr374=) single nucleotide variant not provided [RCV002645840] Chr17:82807642 [GRCh38]
Chr17:80765518 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+14G>A single nucleotide variant not provided [RCV002578572] Chr17:82929514 [GRCh38]
Chr17:80887390 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2974G>A (p.Gly992Ser) single nucleotide variant not provided [RCV002581654] Chr17:82929483 [GRCh38]
Chr17:80887359 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1434T>C (p.Tyr478=) single nucleotide variant not provided [RCV002645856] Chr17:82870339 [GRCh38]
Chr17:80828215 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2725C>T (p.Gln909Ter) single nucleotide variant not provided [RCV003029431] Chr17:82929144 [GRCh38]
Chr17:80887020 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3138G>A (p.Thr1046=) single nucleotide variant not provided [RCV002635018] Chr17:82932682 [GRCh38]
Chr17:80890558 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2992-10C>T single nucleotide variant not provided [RCV002633154] Chr17:82930512 [GRCh38]
Chr17:80888388 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.704A>G (p.Asn235Ser) single nucleotide variant Inborn genetic diseases [RCV003250571]|not provided [RCV002725905] Chr17:82781654 [GRCh38]
Chr17:80739530 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3461_3462del (p.Val1154fs) microsatellite not provided [RCV002721870] Chr17:82939456..82939457 [GRCh38]
Chr17:80897332..80897333 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2903G>A (p.Arg968His) single nucleotide variant not provided [RCV002677005] Chr17:82929412 [GRCh38]
Chr17:80887288 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1931C>T (p.Thr644Met) single nucleotide variant Inborn genetic diseases [RCV002724536]|not provided [RCV005099087] Chr17:82907769 [GRCh38]
Chr17:80865645 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2471+10_2471+11del deletion not provided [RCV002634993] Chr17:82926501..82926502 [GRCh38]
Chr17:80884377..80884378 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.595G>A (p.Ala199Thr) single nucleotide variant not specified [RCV004079145] Chr17:82831860 [GRCh38]
Chr17:80789736 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1923-19TG[3] microsatellite not provided [RCV002634441] Chr17:82907741..82907742 [GRCh38]
Chr17:80865617..80865618 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1100C>T (p.Pro367Leu) single nucleotide variant not specified [RCV004081121] Chr17:82831355 [GRCh38]
Chr17:80789231 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.370C>T (p.His124Tyr) single nucleotide variant not provided [RCV002609392] Chr17:82766303 [GRCh38]
Chr17:80724179 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2418C>T (p.Pro806=) single nucleotide variant not provided [RCV002603250] Chr17:82926438 [GRCh38]
Chr17:80884314 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+13G>A single nucleotide variant not provided [RCV002589211] Chr17:82870393 [GRCh38]
Chr17:80828269 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2670G>A (p.Gln890=) single nucleotide variant not provided [RCV002655043] Chr17:82927965 [GRCh38]
Chr17:80885841 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1813G>A (p.Asp605Asn) single nucleotide variant not specified [RCV004131736] Chr17:82830501 [GRCh38]
Chr17:80788377 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3369+12C>T single nucleotide variant not provided [RCV002586482] Chr17:82938148 [GRCh38]
Chr17:80896024 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.533C>G (p.Pro178Arg) single nucleotide variant not provided [RCV002635848] Chr17:82768517 [GRCh38]
Chr17:80726393 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.731T>C (p.Met244Thr) single nucleotide variant not provided [RCV002589309] Chr17:82781681 [GRCh38]
Chr17:80739557 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.184+8_184+21del deletion not provided [RCV002606584] Chr17:82752380..82752393 [GRCh38]
Chr17:80710256..80710269 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.585C>T (p.Ser195=) single nucleotide variant not provided [RCV002603031] Chr17:82772454 [GRCh38]
Chr17:80730330 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2753G>A (p.Arg918His) single nucleotide variant not provided [RCV003068939] Chr17:82929172 [GRCh38]
Chr17:80887048 [GRCh37]
Chr17:17q25.3		 uncertain significance
Single allele deletion See cases [RCV003154621] Chr17:79539041..81052322 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3451G>T (p.Val1151Leu) single nucleotide variant Inborn genetic diseases [RCV003195742] Chr17:82939448 [GRCh38]
Chr17:80897324 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2225T>C (p.Met742Thr) single nucleotide variant Inborn genetic diseases [RCV003195030] Chr17:82923698 [GRCh38]
Chr17:80881574 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1210G>C (p.Ala404Pro) single nucleotide variant not specified [RCV004265017] Chr17:82831245 [GRCh38]
Chr17:80789121 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1784C>A (p.Pro595His) single nucleotide variant Inborn genetic diseases [RCV003203627] Chr17:82903458 [GRCh38]
Chr17:80861334 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q25.3(chr17:82004063-83087346) copy number loss Anomalous pulmonary venous return [RCV003223589] Chr17:82004063..83087346 [GRCh38]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2804C>G (p.Pro935Arg) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140887] Chr17:82929223 [GRCh38]
Chr17:80887099 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1318+23870C>T single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140888] Chr17:82838804 [GRCh38]
Chr17:80796680 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3121G>A (p.Val1041Met) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140889] Chr17:82932665 [GRCh38]
Chr17:80890541 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1927G>A (p.Val643Ile) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140890]|Inborn genetic diseases [RCV004673855] Chr17:82907765 [GRCh38]
Chr17:80865641 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1604A>C (p.Asp535Ala) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140891] Chr17:82893587 [GRCh38]
Chr17:80851463 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2701_2718dup (p.Val906_Ala907insArgIleMetCysCysVal) duplication Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003140892] Chr17:82929118..82929119 [GRCh38]
Chr17:80886994..80886995 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1881C>A (p.Ser627Arg) single nucleotide variant not specified [RCV004253591] Chr17:82830433 [GRCh38]
Chr17:80788309 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2017A>G (p.Met673Val) single nucleotide variant not specified [RCV004253040] Chr17:82830297 [GRCh38]
Chr17:80788173 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1898C>T (p.Thr633Met) single nucleotide variant not specified [RCV004261395] Chr17:82830416 [GRCh38]
Chr17:80788292 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.749T>C (p.Met250Thr) single nucleotide variant Inborn genetic diseases [RCV003191734] Chr17:82781699 [GRCh38]
Chr17:80739575 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.748A>G (p.Met250Val) single nucleotide variant not provided [RCV003227192] Chr17:82781698 [GRCh38]
Chr17:80739574 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2629A>G (p.Thr877Ala) single nucleotide variant not provided [RCV003323257] Chr17:82927924 [GRCh38]
Chr17:80885800 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1589T>C (p.Ile530Thr) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004763648]|Inborn genetic diseases [RCV004333293]|not provided [RCV003321091] Chr17:82893572 [GRCh38]
Chr17:80851448 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1318+17097C>T single nucleotide variant not provided [RCV003422999] Chr17:82832031 [GRCh38]
Chr17:80789907 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3183G>A (p.Thr1061=) single nucleotide variant not provided [RCV003423000] Chr17:82932727 [GRCh38]
Chr17:80890603 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.379G>A (p.Ala127Thr) single nucleotide variant Inborn genetic diseases [RCV003381157] Chr17:82766312 [GRCh38]
Chr17:80724188 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.-6G>T single nucleotide variant TBCD-related disorder [RCV003908908]|not provided [RCV003421562] Chr17:82752188 [GRCh38]
Chr17:80710064 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1851G>A (p.Met617Ile) single nucleotide variant Inborn genetic diseases [RCV003369873] Chr17:82905982 [GRCh38]
Chr17:80863858 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.345_346del (p.Tyr115_Lys116delinsTer) microsatellite Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003333299] Chr17:82766276..82766277 [GRCh38]
Chr17:80724152..80724153 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2992-19A>T single nucleotide variant not provided [RCV003571746] Chr17:82930503 [GRCh38]
Chr17:80888379 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3270A>G (p.Ser1090=) single nucleotide variant not provided [RCV003873217] Chr17:82937349 [GRCh38]
Chr17:80895225 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1263G>A (p.Leu421=) single nucleotide variant not provided [RCV003570821] Chr17:82814879 [GRCh38]
Chr17:80772755 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.950+8C>T single nucleotide variant not provided [RCV003692064] Chr17:82801004 [GRCh38]
Chr17:80758880 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.21G>A (p.Pro7=) single nucleotide variant not provided [RCV003825803] Chr17:82752214 [GRCh38]
Chr17:80710090 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1564-8_1564-6del deletion not provided [RCV003569544] Chr17:82893537..82893539 [GRCh38]
Chr17:80851413..80851415 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1527del (p.Ala510fs) deletion not provided [RCV003569588] Chr17:82884196 [GRCh38]
Chr17:80842072 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2471+20C>T single nucleotide variant not provided [RCV003686293] Chr17:82926511 [GRCh38]
Chr17:80884387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2268G>C (p.Leu756=) single nucleotide variant not provided [RCV003571545] Chr17:82924946 [GRCh38]
Chr17:80882822 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-6C>T single nucleotide variant not provided [RCV003571280] Chr17:82942443 [GRCh38]
Chr17:80900319 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2682C>A (p.Ile894=) single nucleotide variant not provided [RCV003543484] Chr17:82927977 [GRCh38]
Chr17:80885853 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2235G>C (p.Pro745=) single nucleotide variant not provided [RCV003543501] Chr17:82923708 [GRCh38]
Chr17:80881584 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+27_2038+36del deletion not provided [RCV003570430] Chr17:82911807..82911816 [GRCh38]
Chr17:80869683..80869692 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1740A>G (p.Arg580=) single nucleotide variant not provided [RCV003875654] Chr17:82903414 [GRCh38]
Chr17:80861290 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-20T>C single nucleotide variant not provided [RCV003570331] Chr17:82942429 [GRCh38]
Chr17:80900305 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2380-8C>T single nucleotide variant not provided [RCV003875459] Chr17:82926392 [GRCh38]
Chr17:80884268 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3006C>T (p.Thr1002=) single nucleotide variant not provided [RCV003712508] Chr17:82930536 [GRCh38]
Chr17:80888412 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-14A>G single nucleotide variant not provided [RCV003712633] Chr17:82763951 [GRCh38]
Chr17:80721827 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.334-20del deletion not provided [RCV003570568] Chr17:82766247 [GRCh38]
Chr17:80724123 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+17C>T single nucleotide variant not provided [RCV003568972] Chr17:82926508 [GRCh38]
Chr17:80884384 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.950+12G>A single nucleotide variant not provided [RCV003686412] Chr17:82801008 [GRCh38]
Chr17:80758884 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-11C>A single nucleotide variant not provided [RCV003571887] Chr17:82772441 [GRCh38]
Chr17:80730317 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2016A>G (p.Gly672=) single nucleotide variant not provided [RCV003872596] Chr17:82911767 [GRCh38]
Chr17:80869643 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.817+20_817+21del microsatellite not provided [RCV003569276] Chr17:82797819..82797820 [GRCh38]
Chr17:80755695..80755696 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.567T>C (p.Ile189=) single nucleotide variant not provided [RCV003569367] Chr17:82768551 [GRCh38]
Chr17:80726427 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2472-18A>T single nucleotide variant not provided [RCV003570922] Chr17:82927168 [GRCh38]
Chr17:80885044 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.51G>A (p.Glu17=) single nucleotide variant not provided [RCV003686420] Chr17:82752244 [GRCh38]
Chr17:80710120 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1087+9G>A single nucleotide variant not provided [RCV003570598] Chr17:82806020 [GRCh38]
Chr17:80763896 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+7C>T single nucleotide variant not provided [RCV003570833] Chr17:82926498 [GRCh38]
Chr17:80884374 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3549C>T (p.Pro1183=) single nucleotide variant not provided [RCV003872760] Chr17:82941468 [GRCh38]
Chr17:80899344 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1197G>C (p.Val399=) single nucleotide variant not provided [RCV003571059] Chr17:82809756 [GRCh38]
Chr17:80767632 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1383C>T (p.Thr461=) single nucleotide variant not provided [RCV003686201] Chr17:82870288 [GRCh38]
Chr17:80828164 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-15G>T single nucleotide variant not provided [RCV003569033] Chr17:82924924 [GRCh38]
Chr17:80882800 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.522C>T (p.Leu174=) single nucleotide variant not provided [RCV003691498] Chr17:82768506 [GRCh38]
Chr17:80726382 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3113+1G>A single nucleotide variant not provided [RCV003569708] Chr17:82930644 [GRCh38]
Chr17:80888520 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3351C>T (p.Leu1117=) single nucleotide variant not provided [RCV003569738] Chr17:82938118 [GRCh38]
Chr17:80895994 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1371C>T (p.Cys457=) single nucleotide variant not provided [RCV003686234] Chr17:82870276 [GRCh38]
Chr17:80828152 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+14C>T single nucleotide variant not provided [RCV003825214] Chr17:82928002 [GRCh38]
Chr17:80885878 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1148+17G>A single nucleotide variant not provided [RCV003880585] Chr17:82807685 [GRCh38]
Chr17:80765561 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.29del (p.Gly10fs) deletion not provided [RCV003569024] Chr17:82752220 [GRCh38]
Chr17:80710096 [GRCh37]
Chr17:17q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:80678790-80943685)x3 copy number gain not provided [RCV003485168] Chr17:80678790..80943685 [GRCh37]
Chr17:17q25.3		 uncertain significance
Single allele duplication not provided [RCV003448687] Chr17:79928042..81152120 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2983del (p.Glu995fs) deletion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003492876]|TBCD-related disorder [RCV003408539] Chr17:82929491 [GRCh38]
Chr17:80887367 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2006+2T>A single nucleotide variant not provided [RCV003568990] Chr17:82909309 [GRCh38]
Chr17:80867185 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.950+17C>T single nucleotide variant not provided [RCV003826258] Chr17:82801013 [GRCh38]
Chr17:80758889 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1188G>A (p.Ala396=) single nucleotide variant not provided [RCV003880455] Chr17:82809747 [GRCh38]
Chr17:80767623 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.298C>T (p.His100Tyr) single nucleotide variant not provided [RCV003480264] Chr17:82764027 [GRCh38]
Chr17:80721903 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.429G>A (p.Pro143=) single nucleotide variant not provided [RCV003421563] Chr17:82832026 [GRCh38]
Chr17:80789902 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+20C>G single nucleotide variant not provided [RCV003825403] Chr17:82766388 [GRCh38]
Chr17:80724264 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3490C>T (p.Leu1164Phe) single nucleotide variant not provided [RCV003421564] Chr17:82941409 [GRCh38]
Chr17:80899285 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2900C>G (p.Pro967Arg) single nucleotide variant TBCD-related disorder [RCV003402138] Chr17:82929409 [GRCh38]
Chr17:80887285 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1644C>T (p.Asp548=) single nucleotide variant not provided [RCV003413400] Chr17:82830670 [GRCh38]
Chr17:80788546 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3564+7C>G single nucleotide variant not provided [RCV003831566] Chr17:82941490 [GRCh38]
Chr17:80899366 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2006+17C>G single nucleotide variant not provided [RCV003691864] Chr17:82909324 [GRCh38]
Chr17:80867200 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1375G>A (p.Val459Met) single nucleotide variant not provided [RCV003578004] Chr17:82870280 [GRCh38]
Chr17:80828156 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3306C>T (p.Pro1102=) single nucleotide variant not provided [RCV003739005] Chr17:82938073 [GRCh38]
Chr17:80895949 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1473G>A (p.Ser491=) single nucleotide variant not provided [RCV003659898] Chr17:82870378 [GRCh38]
Chr17:80828254 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.771+11C>T single nucleotide variant not provided [RCV003689722] Chr17:82781732 [GRCh38]
Chr17:80739608 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3309C>T (p.Gly1103=) single nucleotide variant not provided [RCV003829216] Chr17:82938076 [GRCh38]
Chr17:80895952 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.334-8T>C single nucleotide variant not provided [RCV003578253] Chr17:82766259 [GRCh38]
Chr17:80724135 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+10_2038+29del deletion not provided [RCV003825331] Chr17:82911795..82911814 [GRCh38]
Chr17:80869671..80869690 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.817+1G>A single nucleotide variant not provided [RCV003578190] Chr17:82797803 [GRCh38]
Chr17:80755679 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3465C>T (p.Leu1155=) single nucleotide variant not provided [RCV003830405] Chr17:82939462 [GRCh38]
Chr17:80897338 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2208A>C (p.Leu736=) single nucleotide variant not provided [RCV003831795] Chr17:82923681 [GRCh38]
Chr17:80881557 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1318+19G>C single nucleotide variant not provided [RCV003694617] Chr17:82814953 [GRCh38]
Chr17:80772829 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2664G>T (p.Arg888=) single nucleotide variant not provided [RCV003696497] Chr17:82927959 [GRCh38]
Chr17:80885835 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.555A>T (p.Ile185=) single nucleotide variant not provided [RCV003579230] Chr17:82768539 [GRCh38]
Chr17:80726415 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.753T>C (p.Asp251=) single nucleotide variant not provided [RCV003690794] Chr17:82781703 [GRCh38]
Chr17:80739579 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.818-4G>T single nucleotide variant not provided [RCV003544650] Chr17:82800860 [GRCh38]
Chr17:80758736 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.436-3dup duplication not provided [RCV003574111] Chr17:82768411..82768412 [GRCh38]
Chr17:80726287..80726288 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1062C>G (p.Val354=) single nucleotide variant not provided [RCV003577383] Chr17:82805986 [GRCh38]
Chr17:80763862 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+17C>A single nucleotide variant not provided [RCV003831603] Chr17:82766385 [GRCh38]
Chr17:80724261 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2400A>G (p.Ala800=) single nucleotide variant not provided [RCV003661782] Chr17:82926420 [GRCh38]
Chr17:80884296 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-16T>C single nucleotide variant not provided [RCV003692257] Chr17:82884129 [GRCh38]
Chr17:80842005 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+11G>A single nucleotide variant not provided [RCV003831607] Chr17:82929511 [GRCh38]
Chr17:80887387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3384G>A (p.Thr1128=) single nucleotide variant not provided [RCV003715039] Chr17:82939381 [GRCh38]
Chr17:80897257 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.162G>A (p.Glu54=) single nucleotide variant not provided [RCV003572990] Chr17:82752355 [GRCh38]
Chr17:80710231 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2313T>C (p.Thr771=) single nucleotide variant not provided [RCV003577499] Chr17:82924991 [GRCh38]
Chr17:80882867 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2039-4C>T single nucleotide variant not provided [RCV003695959] Chr17:82920552 [GRCh38]
Chr17:80878428 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1534-16G>C single nucleotide variant not provided [RCV003544964] Chr17:82889652 [GRCh38]
Chr17:80847528 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1534-20G>C single nucleotide variant not provided [RCV003660604] Chr17:82889648 [GRCh38]
Chr17:80847524 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3099C>A (p.Asn1033Lys) single nucleotide variant not provided [RCV003694912] Chr17:82930629 [GRCh38]
Chr17:80888505 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3048G>A (p.Pro1016=) single nucleotide variant not provided [RCV003848932] Chr17:82930578 [GRCh38]
Chr17:80888454 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3462G>A (p.Val1154=) single nucleotide variant not provided [RCV003660645] Chr17:82939459 [GRCh38]
Chr17:80897335 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.951-15C>G single nucleotide variant not provided [RCV003576592] Chr17:82805860 [GRCh38]
Chr17:80763736 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2808C>T (p.Ile936=) single nucleotide variant not provided [RCV003579566] Chr17:82929227 [GRCh38]
Chr17:80887103 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2943C>T (p.His981=) single nucleotide variant not provided [RCV003693749] Chr17:82929452 [GRCh38]
Chr17:80887328 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.120G>C (p.Leu40=) single nucleotide variant not provided [RCV003828920] Chr17:82752313 [GRCh38]
Chr17:80710189 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1398C>T (p.Ala466=) single nucleotide variant not provided [RCV003740148] Chr17:82870303 [GRCh38]
Chr17:80828179 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.436-18C>G single nucleotide variant not provided [RCV003715500] Chr17:82768402 [GRCh38]
Chr17:80726278 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.951-10C>T single nucleotide variant not provided [RCV003545349] Chr17:82805865 [GRCh38]
Chr17:80763741 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1212G>A (p.Leu404=) single nucleotide variant not provided [RCV003572194] Chr17:82809771 [GRCh38]
Chr17:80767647 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1152C>T (p.Ile384=) single nucleotide variant not provided [RCV003827834] Chr17:82809711 [GRCh38]
Chr17:80767587 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2655G>C (p.Leu885=) single nucleotide variant not provided [RCV003692922] Chr17:82927950 [GRCh38]
Chr17:80885826 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-20A>G single nucleotide variant not provided [RCV003696570] Chr17:82911738 [GRCh38]
Chr17:80869614 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2250C>T (p.Pro750=) single nucleotide variant not provided [RCV003544194] Chr17:82923723 [GRCh38]
Chr17:80881599 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+14C>T single nucleotide variant not provided [RCV003690521] Chr17:82911803 [GRCh38]
Chr17:80869679 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1984-19_1984-18del deletion not provided [RCV003547023] Chr17:82909265..82909266 [GRCh38]
Chr17:80867141..80867142 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+20T>C single nucleotide variant not provided [RCV003692398] Chr17:82870400 [GRCh38]
Chr17:80828276 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.384T>C (p.Asp128=) single nucleotide variant not provided [RCV003827305] Chr17:82766317 [GRCh38]
Chr17:80724193 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+19C>T single nucleotide variant not provided [RCV003830266] Chr17:82903497 [GRCh38]
Chr17:80861373 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.27G>A (p.Ala9=) single nucleotide variant not provided [RCV003572226] Chr17:82752220 [GRCh38]
Chr17:80710096 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-12C>G single nucleotide variant not provided [RCV003690103] Chr17:82929101 [GRCh38]
Chr17:80886977 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.729C>T (p.Thr243=) single nucleotide variant not provided [RCV003878320] Chr17:82781679 [GRCh38]
Chr17:80739555 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.60A>T (p.Thr20=) single nucleotide variant not provided [RCV003693709] Chr17:82752253 [GRCh38]
Chr17:80710129 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.72C>T (p.Gly24=) single nucleotide variant not provided [RCV003829283] Chr17:82752265 [GRCh38]
Chr17:80710141 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.638+17C>T single nucleotide variant not provided [RCV003715149] Chr17:82772524 [GRCh38]
Chr17:80730400 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3281+19T>C single nucleotide variant not provided [RCV003713822] Chr17:82937379 [GRCh38]
Chr17:80895255 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1564-5A>T single nucleotide variant not provided [RCV003662080] Chr17:82893542 [GRCh38]
Chr17:80851418 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1805-17G>C single nucleotide variant not provided [RCV003694362] Chr17:82905919 [GRCh38]
Chr17:80863795 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-17C>T single nucleotide variant not provided [RCV003879712] Chr17:82781572 [GRCh38]
Chr17:80739448 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2179-11C>G single nucleotide variant not provided [RCV003716432] Chr17:82923641 [GRCh38]
Chr17:80881517 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3113+8_3113+10del microsatellite not provided [RCV003826008] Chr17:82930648..82930650 [GRCh38]
Chr17:80888524..80888526 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.225C>T (p.Asp75=) single nucleotide variant not provided [RCV003693881] Chr17:82756205 [GRCh38]
Chr17:80714081 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1989T>C (p.Tyr663=) single nucleotide variant not provided [RCV003878561] Chr17:82909290 [GRCh38]
Chr17:80867166 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-17C>G single nucleotide variant not provided [RCV003826134] Chr17:82929345 [GRCh38]
Chr17:80887221 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.713G>A (p.Arg238His) single nucleotide variant not provided [RCV003573256] Chr17:82781663 [GRCh38]
Chr17:80739539 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2487T>G (p.Val829=) single nucleotide variant not provided [RCV003663392] Chr17:82927201 [GRCh38]
Chr17:80885077 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1105C>T (p.Leu369=) single nucleotide variant not provided [RCV003693370] Chr17:82807625 [GRCh38]
Chr17:80765501 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+9G>A single nucleotide variant not provided [RCV003714729] Chr17:82911798 [GRCh38]
Chr17:80869674 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2179-19C>T single nucleotide variant not provided [RCV003714633] Chr17:82923633 [GRCh38]
Chr17:80881509 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3297G>A (p.Val1099=) single nucleotide variant not provided [RCV003577880] Chr17:82938064 [GRCh38]
Chr17:80895940 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-12T>C single nucleotide variant not provided [RCV003660066] Chr17:82927893 [GRCh38]
Chr17:80885769 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1455C>G (p.Pro485=) single nucleotide variant not provided [RCV003877949] Chr17:82870360 [GRCh38]
Chr17:80828236 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1785C>T (p.Pro595=) single nucleotide variant not provided [RCV003662321] Chr17:82903459 [GRCh38]
Chr17:80861335 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-12_2853-9del microsatellite not provided [RCV003695131] Chr17:82929343..82929346 [GRCh38]
Chr17:80887219..80887222 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3324G>A (p.Gln1108=) single nucleotide variant not provided [RCV003572087] Chr17:82938091 [GRCh38]
Chr17:80895967 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1318+19G>A single nucleotide variant not provided [RCV003688600] Chr17:82814953 [GRCh38]
Chr17:80772829 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2039-17T>C single nucleotide variant not provided [RCV003574684] Chr17:82920539 [GRCh38]
Chr17:80878415 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1926C>T (p.Pro642=) single nucleotide variant not provided [RCV003829626] Chr17:82907764 [GRCh38]
Chr17:80865640 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2179-13G>C single nucleotide variant not provided [RCV003694688] Chr17:82923639 [GRCh38]
Chr17:80881515 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1830A>G (p.Thr610=) single nucleotide variant not provided [RCV003827896] Chr17:82905961 [GRCh38]
Chr17:80863837 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1272_1318+43del deletion not provided [RCV003830312] Chr17:82814868..82814957 [GRCh38]
Chr17:80772744..80772833 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.3390C>T (p.Ser1130=) single nucleotide variant not provided [RCV003688719] Chr17:82939387 [GRCh38]
Chr17:80897263 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.408C>A (p.Val136=) single nucleotide variant not provided [RCV003824994] Chr17:82766341 [GRCh38]
Chr17:80724217 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1842T>G (p.Asp614Glu) single nucleotide variant not provided [RCV003692360] Chr17:82905973 [GRCh38]
Chr17:80863849 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2715T>C (p.Cys905=) single nucleotide variant not provided [RCV003544257] Chr17:82929134 [GRCh38]
Chr17:80887010 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-4G>T single nucleotide variant not provided [RCV003689871] Chr17:82772448 [GRCh38]
Chr17:80730324 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.637A>C (p.Arg213=) single nucleotide variant not provided [RCV003824936] Chr17:82772506 [GRCh38]
Chr17:80730382 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1533+16T>C single nucleotide variant not provided [RCV003576642] Chr17:82884218 [GRCh38]
Chr17:80842094 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+7G>A single nucleotide variant not provided [RCV003714642] Chr17:82752384 [GRCh38]
Chr17:80710260 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.771+14G>A single nucleotide variant not provided [RCV003824944] Chr17:82781735 [GRCh38]
Chr17:80739611 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1758G>A (p.Ala586=) single nucleotide variant not provided [RCV003829312] Chr17:82903432 [GRCh38]
Chr17:80861308 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2712C>T (p.Cys904=) single nucleotide variant not provided [RCV003830091] Chr17:82929131 [GRCh38]
Chr17:80887007 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1533+12C>T single nucleotide variant not provided [RCV003848837] Chr17:82884214 [GRCh38]
Chr17:80842090 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3375del (p.Lys1126fs) deletion not provided [RCV003694784] Chr17:82939371 [GRCh38]
Chr17:80897247 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2039-10_2039-9insC insertion TBCD-related disorder [RCV003939199]|not provided [RCV003738728] Chr17:82920546..82920547 [GRCh38]
Chr17:80878422..80878423 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.18A>G (p.Glu6=) single nucleotide variant not provided [RCV003577044] Chr17:82752211 [GRCh38]
Chr17:80710087 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.123C>T (p.Gly41=) single nucleotide variant TBCD-related disorder [RCV003901345]|not provided [RCV003739659] Chr17:82752316 [GRCh38]
Chr17:80710192 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+18G>T single nucleotide variant not provided [RCV003543947] Chr17:82929289 [GRCh38]
Chr17:80887165 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3369+7G>T single nucleotide variant not provided [RCV003825042] Chr17:82938143 [GRCh38]
Chr17:80896019 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+12T>C single nucleotide variant not provided [RCV003689983] Chr17:82903490 [GRCh38]
Chr17:80861366 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+9G>A single nucleotide variant not provided [RCV003577188] Chr17:82889706 [GRCh38]
Chr17:80847582 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1428T>C (p.Arg476=) single nucleotide variant not provided [RCV003695241] Chr17:82870333 [GRCh38]
Chr17:80828209 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1514del (p.Asn505fs) deletion not provided [RCV003688747] Chr17:82884181 [GRCh38]
Chr17:80842057 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2852+16_2852+28del deletion not provided [RCV003547545] Chr17:82929287..82929299 [GRCh38]
Chr17:80887163..80887175 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.672G>A (p.Lys224=) single nucleotide variant not provided [RCV003716720] Chr17:82781622 [GRCh38]
Chr17:80739498 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-15G>C single nucleotide variant not provided [RCV003578382] Chr17:82929098 [GRCh38]
Chr17:80886974 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2663G>A (p.Arg888Gln) single nucleotide variant Inborn genetic diseases [RCV004369023]|not provided [RCV003545460] Chr17:82927958 [GRCh38]
Chr17:80885834 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1650-16A>T single nucleotide variant not provided [RCV003829495] Chr17:82900635 [GRCh38]
Chr17:80858511 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1035C>G (p.Thr345=) single nucleotide variant not provided [RCV003691406] Chr17:82805959 [GRCh38]
Chr17:80763835 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3287G>T (p.Cys1096Phe) single nucleotide variant not provided [RCV003662617] Chr17:82938054 [GRCh38]
Chr17:80895930 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2040G>T (p.Val680=) single nucleotide variant not provided [RCV003662603] Chr17:82920557 [GRCh38]
Chr17:80878433 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1533+14T>C single nucleotide variant not provided [RCV003576803] Chr17:82884216 [GRCh38]
Chr17:80842092 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1923-2A>G single nucleotide variant not provided [RCV003688170] Chr17:82907759 [GRCh38]
Chr17:80865635 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2610-14C>T single nucleotide variant not provided [RCV003828735] Chr17:82927891 [GRCh38]
Chr17:80885767 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3459T>C (p.Thr1153=) single nucleotide variant not provided [RCV003693076] Chr17:82939456 [GRCh38]
Chr17:80897332 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-11C>T single nucleotide variant not provided [RCV003714504] Chr17:82781578 [GRCh38]
Chr17:80739454 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3219G>A (p.Ala1073=) single nucleotide variant not provided [RCV003546396] Chr17:82937298 [GRCh38]
Chr17:80895174 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1681C>T (p.Gln561Ter) single nucleotide variant not provided [RCV003547105] Chr17:82900682 [GRCh38]
Chr17:80858558 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.831C>T (p.Leu277=) single nucleotide variant not provided [RCV003695016] Chr17:82800877 [GRCh38]
Chr17:80758753 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-10C>G single nucleotide variant not provided [RCV003687584] Chr17:82941389 [GRCh38]
Chr17:80899265 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.831C>A (p.Leu277=) single nucleotide variant not provided [RCV003716362] Chr17:82800877 [GRCh38]
Chr17:80758753 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1341G>A (p.Ala447=) single nucleotide variant not provided [RCV003830078] Chr17:82870246 [GRCh38]
Chr17:80828122 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3555G>T (p.Leu1185=) single nucleotide variant not provided [RCV003830797] Chr17:82941474 [GRCh38]
Chr17:80899350 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+10C>T single nucleotide variant not provided [RCV003545749] Chr17:82929510 [GRCh38]
Chr17:80887386 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1228C>T (p.Gln410Ter) single nucleotide variant not provided [RCV003716469] Chr17:82814844 [GRCh38]
Chr17:80772720 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1223+15C>T single nucleotide variant not provided [RCV003693854] Chr17:82809797 [GRCh38]
Chr17:80767673 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+19C>G single nucleotide variant not provided [RCV003830778] Chr17:82929290 [GRCh38]
Chr17:80887166 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3431G>A (p.Gly1144Asp) single nucleotide variant Inborn genetic diseases [RCV004369592]|not provided [RCV003876135] Chr17:82939428 [GRCh38]
Chr17:80897304 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.42G>A (p.Glu14=) single nucleotide variant not provided [RCV003663366] Chr17:82752235 [GRCh38]
Chr17:80710111 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.228G>A (p.Pro76=) single nucleotide variant not provided [RCV003690362] Chr17:82756208 [GRCh38]
Chr17:80714084 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.146G>C (p.Gly49Ala) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV003493188] Chr17:82752339 [GRCh38]
Chr17:80710215 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3312C>T (p.Asp1104=) single nucleotide variant not provided [RCV003825554] Chr17:82938079 [GRCh38]
Chr17:80895955 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1360C>A (p.Arg454=) single nucleotide variant not provided [RCV003827557] Chr17:82870265 [GRCh38]
Chr17:80828141 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.570C>T (p.Leu190=) single nucleotide variant not provided [RCV003825694] Chr17:82768554 [GRCh38]
Chr17:80726430 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+8T>C single nucleotide variant not provided [RCV003688801] Chr17:82903486 [GRCh38]
Chr17:80861362 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3003C>T (p.Ser1001=) single nucleotide variant not provided [RCV003687081] Chr17:82930533 [GRCh38]
Chr17:80888409 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+11G>C single nucleotide variant not provided [RCV003693068] Chr17:82903489 [GRCh38]
Chr17:80861365 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-5C>T single nucleotide variant not provided [RCV003688254] Chr17:82763960 [GRCh38]
Chr17:80721836 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2992-11C>T single nucleotide variant not provided [RCV003713348] Chr17:82930511 [GRCh38]
Chr17:80888387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3330C>T (p.Leu1110=) single nucleotide variant not provided [RCV003660037] Chr17:82938097 [GRCh38]
Chr17:80895973 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-18C>A single nucleotide variant not provided [RCV003693121] Chr17:82884127 [GRCh38]
Chr17:80842003 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+15G>C single nucleotide variant not provided [RCV003713222] Chr17:82927338 [GRCh38]
Chr17:80885214 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3114-8C>T single nucleotide variant not provided [RCV003688204] Chr17:82932650 [GRCh38]
Chr17:80890526 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1410G>A (p.Val470=) single nucleotide variant not provided [RCV003690808] Chr17:82870315 [GRCh38]
Chr17:80828191 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1626A>G (p.Arg542=) single nucleotide variant not provided [RCV003544871] Chr17:82893609 [GRCh38]
Chr17:80851485 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3564+11C>T single nucleotide variant not provided [RCV003713323] Chr17:82941494 [GRCh38]
Chr17:80899370 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-6_2853-5del deletion not provided [RCV003689151] Chr17:82929356..82929357 [GRCh38]
Chr17:80887232..80887233 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2043T>C (p.Cys681=) single nucleotide variant not provided [RCV003693106] Chr17:82920560 [GRCh38]
Chr17:80878436 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3399C>G (p.Tyr1133Ter) single nucleotide variant not provided [RCV003714577] Chr17:82939396 [GRCh38]
Chr17:80897272 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1319-17C>T single nucleotide variant not provided [RCV003544751] Chr17:82870207 [GRCh38]
Chr17:80828083 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1083G>A (p.Val361=) single nucleotide variant not provided [RCV003687350] Chr17:82806007 [GRCh38]
Chr17:80763883 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2898C>T (p.Phe966=) single nucleotide variant not provided [RCV003688403] Chr17:82929407 [GRCh38]
Chr17:80887283 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1824C>G (p.Ser608=) single nucleotide variant not provided [RCV003688480] Chr17:82905955 [GRCh38]
Chr17:80863831 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1923-12G>T single nucleotide variant not provided [RCV003575645] Chr17:82907749 [GRCh38]
Chr17:80865625 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1999T>C (p.Leu667=) single nucleotide variant not provided [RCV003824963] Chr17:82909300 [GRCh38]
Chr17:80867176 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2415C>T (p.Ser805=) single nucleotide variant not provided [RCV003882651] Chr17:82926435 [GRCh38]
Chr17:80884311 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-11T>C single nucleotide variant not provided [RCV003687501] Chr17:82927894 [GRCh38]
Chr17:80885770 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-7T>C single nucleotide variant not provided [RCV003547922] Chr17:82911751 [GRCh38]
Chr17:80869627 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-16C>T single nucleotide variant not provided [RCV003661705] Chr17:82763949 [GRCh38]
Chr17:80721825 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-5T>C single nucleotide variant not provided [RCV003662369] Chr17:82942444 [GRCh38]
Chr17:80900320 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+15T>C single nucleotide variant not provided [RCV003827722] Chr17:82926506 [GRCh38]
Chr17:80884382 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3370-9C>T single nucleotide variant not provided [RCV003662443] Chr17:82939358 [GRCh38]
Chr17:80897234 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.819T>C (p.Ala273=) single nucleotide variant not provided [RCV003690180] Chr17:82800865 [GRCh38]
Chr17:80758741 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.66C>T (p.Ala22=) single nucleotide variant not provided [RCV003827778] Chr17:82752259 [GRCh38]
Chr17:80710135 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1639C>T (p.Leu547=) single nucleotide variant not provided [RCV003572175] Chr17:82893622 [GRCh38]
Chr17:80851498 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1149-2A>C single nucleotide variant not provided [RCV003574198] Chr17:82809706 [GRCh38]
Chr17:80767582 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2039-13_2039-12insG insertion not provided [RCV003545400] Chr17:82920543..82920544 [GRCh38]
Chr17:80878419..80878420 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3576C>T (p.Cys1192=) single nucleotide variant not provided [RCV003661176] Chr17:82942460 [GRCh38]
Chr17:80900336 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+18C>G single nucleotide variant not provided [RCV003692174] Chr17:82926509 [GRCh38]
Chr17:80884385 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.333+19T>C single nucleotide variant not provided [RCV003545411] Chr17:82764081 [GRCh38]
Chr17:80721957 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2260+18T>C single nucleotide variant not provided [RCV003572463] Chr17:82923751 [GRCh38]
Chr17:80881627 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.896del (p.Lys299fs) deletion not provided [RCV003545494] Chr17:82800941 [GRCh38]
Chr17:80758817 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3186G>A (p.Glu1062=) single nucleotide variant not provided [RCV003545694] Chr17:82932730 [GRCh38]
Chr17:80890606 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.180C>T (p.Phe60=) single nucleotide variant not provided [RCV003824775] Chr17:82752373 [GRCh38]
Chr17:80710249 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.927G>A (p.Leu309=) single nucleotide variant not provided [RCV003697631] Chr17:82800973 [GRCh38]
Chr17:80758849 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+11C>T single nucleotide variant not provided [RCV003811898] Chr17:82927999 [GRCh38]
Chr17:80885875 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1893C>G (p.Ala631=) single nucleotide variant not provided [RCV003851265] Chr17:82906024 [GRCh38]
Chr17:80863900 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3282-11G>C single nucleotide variant not provided [RCV003812113] Chr17:82938038 [GRCh38]
Chr17:80895914 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1917G>A (p.Glu639=) single nucleotide variant not provided [RCV003811265] Chr17:82906048 [GRCh38]
Chr17:80863924 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2004_2005insT (p.Arg669Ter) insertion not provided [RCV003665366] Chr17:82909305..82909306 [GRCh38]
Chr17:80867181..80867182 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2223C>T (p.Tyr741=) single nucleotide variant not provided [RCV003832045] Chr17:82923696 [GRCh38]
Chr17:80881572 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2179-15C>T single nucleotide variant not provided [RCV003659037] Chr17:82923637 [GRCh38]
Chr17:80881513 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2520G>A (p.Val840=) single nucleotide variant not provided [RCV003716934] Chr17:82927234 [GRCh38]
Chr17:80885110 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2967C>T (p.Ser989=) single nucleotide variant not provided [RCV003832073] Chr17:82929476 [GRCh38]
Chr17:80887352 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2922G>C (p.Gly974=) single nucleotide variant not provided [RCV003664503] Chr17:82929431 [GRCh38]
Chr17:80887307 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1564-7T>A single nucleotide variant not provided [RCV003851484] Chr17:82893540 [GRCh38]
Chr17:80851416 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1342C>T (p.Leu448=) single nucleotide variant not provided [RCV003697102] Chr17:82870247 [GRCh38]
Chr17:80828123 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1662C>T (p.Ala554=) single nucleotide variant not provided [RCV003849709] Chr17:82900663 [GRCh38]
Chr17:80858539 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2721C>T (p.Ala907=) single nucleotide variant not provided [RCV003549365] Chr17:82929140 [GRCh38]
Chr17:80887016 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2379+14C>T single nucleotide variant not provided [RCV003835499] Chr17:82925071 [GRCh38]
Chr17:80882947 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-18G>C single nucleotide variant not provided [RCV003849755] Chr17:82942431 [GRCh38]
Chr17:80900307 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2998C>A (p.His1000Asn) single nucleotide variant not provided [RCV003548344] Chr17:82930528 [GRCh38]
Chr17:80888404 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.235+16G>A single nucleotide variant not provided [RCV003833382] Chr17:82756231 [GRCh38]
Chr17:80714107 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.16G>T (p.Glu6Ter) single nucleotide variant not provided [RCV003548440] Chr17:82752209 [GRCh38]
Chr17:80710085 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3370-13A>G single nucleotide variant not provided [RCV003832424] Chr17:82939354 [GRCh38]
Chr17:80897230 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1649+13T>C single nucleotide variant not provided [RCV003834346] Chr17:82893645 [GRCh38]
Chr17:80851521 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2991+11G>T single nucleotide variant not provided [RCV003849907] Chr17:82929511 [GRCh38]
Chr17:80887387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1318+9C>T single nucleotide variant not provided [RCV003699421] Chr17:82814943 [GRCh38]
Chr17:80772819 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1623C>T (p.Asn541=) single nucleotide variant not provided [RCV003835670] Chr17:82893606 [GRCh38]
Chr17:80851482 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2760C>T (p.His920=) single nucleotide variant not provided [RCV003548573] Chr17:82929179 [GRCh38]
Chr17:80887055 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.160G>T (p.Glu54Ter) single nucleotide variant not provided [RCV003664926] Chr17:82752353 [GRCh38]
Chr17:80710229 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1224-17A>T single nucleotide variant not provided [RCV003810962] Chr17:82814823 [GRCh38]
Chr17:80772699 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.582+8T>C single nucleotide variant not provided [RCV003665169] Chr17:82768574 [GRCh38]
Chr17:80726450 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3042C>T (p.Ser1014=) single nucleotide variant not provided [RCV003557868] Chr17:82930572 [GRCh38]
Chr17:80888448 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3113+12C>T single nucleotide variant not provided [RCV003701323] Chr17:82930655 [GRCh38]
Chr17:80888531 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-19T>C single nucleotide variant not provided [RCV003811219] Chr17:82763946 [GRCh38]
Chr17:80721822 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-2A>G single nucleotide variant not provided [RCV003699771] Chr17:82941397 [GRCh38]
Chr17:80899273 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1698C>T (p.His566=) single nucleotide variant not provided [RCV003703477] Chr17:82900699 [GRCh38]
Chr17:80858575 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1278G>A (p.Leu426=) single nucleotide variant not provided [RCV003559463] Chr17:82814894 [GRCh38]
Chr17:80772770 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.544C>T (p.Arg182Ter) single nucleotide variant not provided [RCV003698222] Chr17:82768528 [GRCh38]
Chr17:80726404 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2478C>T (p.Cys826=) single nucleotide variant not provided [RCV003839302] Chr17:82927192 [GRCh38]
Chr17:80885068 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-15G>A single nucleotide variant not provided [RCV003833444] Chr17:82781574 [GRCh38]
Chr17:80739450 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+6dup duplication not provided [RCV003659399] Chr17:82889701..82889702 [GRCh38]
Chr17:80847577..80847578 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1932G>A (p.Thr644=) single nucleotide variant not provided [RCV003855980] Chr17:82907770 [GRCh38]
Chr17:80865646 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2178+12A>G single nucleotide variant not provided [RCV003855986] Chr17:82921589 [GRCh38]
Chr17:80879465 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3370-20G>A single nucleotide variant not provided [RCV003670261] Chr17:82939347 [GRCh38]
Chr17:80897223 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.717C>T (p.Ser239=) single nucleotide variant not provided [RCV003724452] Chr17:82781667 [GRCh38]
Chr17:80739543 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.250T>C (p.Leu84=) single nucleotide variant not provided [RCV003701445] Chr17:82763979 [GRCh38]
Chr17:80721855 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1590T>A (p.Ile530=) single nucleotide variant not provided [RCV003549487] Chr17:82893573 [GRCh38]
Chr17:80851449 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1752G>A (p.Ala584=) single nucleotide variant not provided [RCV003697408] Chr17:82903426 [GRCh38]
Chr17:80861302 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3113+15_3113+16del deletion not provided [RCV003838367] Chr17:82930658..82930659 [GRCh38]
Chr17:80888534..80888535 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+9G>C single nucleotide variant not provided [RCV003817566] Chr17:82752386 [GRCh38]
Chr17:80710262 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.657T>C (p.Asp219=) single nucleotide variant not provided [RCV003580235] Chr17:82781607 [GRCh38]
Chr17:80739483 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+14C>T single nucleotide variant not provided [RCV003703233] Chr17:82903492 [GRCh38]
Chr17:80861368 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3354C>T (p.Cys1118=) single nucleotide variant not provided [RCV003561988] Chr17:82938121 [GRCh38]
Chr17:80895997 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2988G>A (p.Ser996=) single nucleotide variant not provided [RCV003703695] Chr17:82929497 [GRCh38]
Chr17:80887373 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.381C>T (p.Ala127=) single nucleotide variant not provided [RCV003814610] Chr17:82766314 [GRCh38]
Chr17:80724190 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2139T>C (p.His713=) single nucleotide variant not provided [RCV003851553] Chr17:82921538 [GRCh38]
Chr17:80879414 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1857T>C (p.His619=) single nucleotide variant not provided [RCV003723721] Chr17:82905988 [GRCh38]
Chr17:80863864 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3312C>A (p.Asp1104Glu) single nucleotide variant not provided [RCV003838586] Chr17:82938079 [GRCh38]
Chr17:80895955 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-15G>A single nucleotide variant not provided [RCV003833170]|not specified [RCV003988155] Chr17:82924924 [GRCh38]
Chr17:80882800 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+17G>A single nucleotide variant not provided [RCV003856793] Chr17:82929288 [GRCh38]
Chr17:80887164 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1131G>A (p.Arg377=) single nucleotide variant not provided [RCV003725059] Chr17:82807651 [GRCh38]
Chr17:80765527 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3009G>A (p.Gln1003=) single nucleotide variant not provided [RCV003665666] Chr17:82930539 [GRCh38]
Chr17:80888415 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-14A>C single nucleotide variant not provided [RCV003840314] Chr17:82772438 [GRCh38]
Chr17:80730314 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+7G>T single nucleotide variant not provided [RCV003669850] Chr17:82927995 [GRCh38]
Chr17:80885871 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1800G>T (p.Thr600=) single nucleotide variant not provided [RCV003674346] Chr17:82903474 [GRCh38]
Chr17:80861350 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1602T>C (p.Ala534=) single nucleotide variant not provided [RCV003668775] Chr17:82893585 [GRCh38]
Chr17:80851461 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3369+17G>C single nucleotide variant not provided [RCV003560409] Chr17:82938153 [GRCh38]
Chr17:80896029 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2393T>A (p.Leu798Ter) single nucleotide variant not provided [RCV003666098] Chr17:82926413 [GRCh38]
Chr17:80884289 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1730+8T>C single nucleotide variant not provided [RCV003835965] Chr17:82900739 [GRCh38]
Chr17:80858615 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-17C>T single nucleotide variant not provided [RCV003669909] Chr17:82807591 [GRCh38]
Chr17:80765467 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+7A>T single nucleotide variant not provided [RCV003851261] Chr17:82927330 [GRCh38]
Chr17:80885206 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-8C>T single nucleotide variant not provided [RCV003702653] Chr17:82927897 [GRCh38]
Chr17:80885773 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2006+19A>T single nucleotide variant not provided [RCV003667645] Chr17:82909326 [GRCh38]
Chr17:80867202 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3479+17C>T single nucleotide variant not provided [RCV003673084] Chr17:82939493 [GRCh38]
Chr17:80897369 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.144C>A (p.Gly48=) single nucleotide variant not provided [RCV003698207] Chr17:82752337 [GRCh38]
Chr17:80710213 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+7C>T single nucleotide variant not provided [RCV003703631] Chr17:82870387 [GRCh38]
Chr17:80828263 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+11_435+12del microsatellite not provided [RCV003836396] Chr17:82766376..82766377 [GRCh38]
Chr17:80724252..80724253 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.363A>G (p.Leu121=) single nucleotide variant not provided [RCV003701670] Chr17:82766296 [GRCh38]
Chr17:80724172 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2895C>T (p.Ala965=) single nucleotide variant not provided [RCV003560397] Chr17:82929404 [GRCh38]
Chr17:80887280 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2856C>T (p.Ser952=) single nucleotide variant not provided [RCV003855487] Chr17:82929365 [GRCh38]
Chr17:80887241 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2274G>A (p.Thr758=) single nucleotide variant not provided [RCV003836370] Chr17:82924952 [GRCh38]
Chr17:80882828 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2019A>G (p.Gly673=) single nucleotide variant not provided [RCV003724081] Chr17:82911770 [GRCh38]
Chr17:80869646 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.570C>A (p.Leu190=) single nucleotide variant not provided [RCV003850572] Chr17:82768554 [GRCh38]
Chr17:80726430 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3532C>T (p.Leu1178=) single nucleotide variant not provided [RCV003667373] Chr17:82941451 [GRCh38]
Chr17:80899327 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-11C>G single nucleotide variant not provided [RCV003856075] Chr17:82884134 [GRCh38]
Chr17:80842010 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1564-18T>A single nucleotide variant not provided [RCV003817434] Chr17:82893529 [GRCh38]
Chr17:80851405 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2006+15del deletion not provided [RCV003702567] Chr17:82909319 [GRCh38]
Chr17:80867195 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.592_595del (p.Ile198fs) deletion not provided [RCV003673301] Chr17:82772458..82772461 [GRCh38]
Chr17:80730334..80730337 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3495A>G (p.Ala1165=) single nucleotide variant not provided [RCV003702182] Chr17:82941414 [GRCh38]
Chr17:80899290 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1257A>G (p.Gly419=) single nucleotide variant not provided [RCV003674170] Chr17:82814873 [GRCh38]
Chr17:80772749 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2101+8C>T single nucleotide variant not provided [RCV003839394] Chr17:82920626 [GRCh38]
Chr17:80878502 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-13del deletion not provided [RCV003549442] Chr17:82900638 [GRCh38]
Chr17:80858514 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1319-14T>C single nucleotide variant not provided [RCV003724032] Chr17:82870210 [GRCh38]
Chr17:80828086 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1386C>T (p.Asn462=) single nucleotide variant not provided [RCV003810785] Chr17:82870291 [GRCh38]
Chr17:80828167 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+12C>A single nucleotide variant not provided [RCV003671818] Chr17:82870392 [GRCh38]
Chr17:80828268 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1149-7C>T single nucleotide variant not provided [RCV003672564] Chr17:82809701 [GRCh38]
Chr17:80767577 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.235+19G>A single nucleotide variant not provided [RCV003839347] Chr17:82756234 [GRCh38]
Chr17:80714110 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1224-12T>C single nucleotide variant not provided [RCV003839469] Chr17:82814828 [GRCh38]
Chr17:80772704 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3168C>T (p.Phe1056=) single nucleotide variant not provided [RCV003839384] Chr17:82932712 [GRCh38]
Chr17:80890588 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.638+18A>T single nucleotide variant not provided [RCV003666777] Chr17:82772525 [GRCh38]
Chr17:80730401 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-20C>T single nucleotide variant not provided [RCV003671722] Chr17:82900631 [GRCh38]
Chr17:80858507 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3282-13C>T single nucleotide variant not provided [RCV003837917] Chr17:82938036 [GRCh38]
Chr17:80895912 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2200_2203dup (p.Ala735fs) duplication not provided [RCV003838584] Chr17:82923669..82923670 [GRCh38]
Chr17:80881545..80881546 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1335G>T (p.Leu445=) single nucleotide variant not provided [RCV003839511] Chr17:82870240 [GRCh38]
Chr17:80828116 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.235+8T>C single nucleotide variant not provided [RCV003659387] Chr17:82756223 [GRCh38]
Chr17:80714099 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2769C>T (p.Ser923=) single nucleotide variant not provided [RCV003549670] Chr17:82929188 [GRCh38]
Chr17:80887064 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1220dup (p.Ser408fs) duplication not provided [RCV003663940] Chr17:82809777..82809778 [GRCh38]
Chr17:80767653..80767654 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2097A>C (p.Val699=) single nucleotide variant not provided [RCV003725946] Chr17:82920614 [GRCh38]
Chr17:80878490 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1087+17C>T single nucleotide variant not provided [RCV003835496] Chr17:82806028 [GRCh38]
Chr17:80763904 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2205T>C (p.Ala735=) single nucleotide variant not provided [RCV003723420] Chr17:82923678 [GRCh38]
Chr17:80881554 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2234C>T (p.Pro745Leu) single nucleotide variant not provided [RCV003725055] Chr17:82923707 [GRCh38]
Chr17:80881583 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2031A>G (p.Arg677=) single nucleotide variant not provided [RCV003669007] Chr17:82911782 [GRCh38]
Chr17:80869658 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2475T>C (p.Ile825=) single nucleotide variant not provided [RCV003559837] Chr17:82927189 [GRCh38]
Chr17:80885065 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2607C>G (p.Thr869=) single nucleotide variant not provided [RCV003725488] Chr17:82927321 [GRCh38]
Chr17:80885197 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2814C>T (p.His938=) single nucleotide variant not provided [RCV003725493] Chr17:82929233 [GRCh38]
Chr17:80887109 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.950+19G>A single nucleotide variant not provided [RCV003702806] Chr17:82801015 [GRCh38]
Chr17:80758891 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.84A>G (p.Glu28=) single nucleotide variant not provided [RCV003839621] Chr17:82752277 [GRCh38]
Chr17:80710153 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1812G>A (p.Pro604=) single nucleotide variant not provided [RCV003839734] Chr17:82905943 [GRCh38]
Chr17:80863819 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-7C>G single nucleotide variant not provided [RCV003669740] Chr17:82941392 [GRCh38]
Chr17:80899268 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1020G>A (p.Lys340=) single nucleotide variant not provided [RCV003699740] Chr17:82805944 [GRCh38]
Chr17:80763820 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1319-13T>G single nucleotide variant not provided [RCV003667246] Chr17:82870211 [GRCh38]
Chr17:80828087 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1543C>T (p.Gln515Ter) single nucleotide variant not provided [RCV003560684] Chr17:82889677 [GRCh38]
Chr17:80847553 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1149-13G>A single nucleotide variant not provided [RCV003817268] Chr17:82809695 [GRCh38]
Chr17:80767571 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2833C>T (p.Leu945=) single nucleotide variant not provided [RCV003666438] Chr17:82929252 [GRCh38]
Chr17:80887128 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1458T>C (p.Phe486=) single nucleotide variant not provided [RCV003666559] Chr17:82870363 [GRCh38]
Chr17:80828239 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.638+18A>G single nucleotide variant not provided [RCV003667653] Chr17:82772525 [GRCh38]
Chr17:80730401 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2379+12C>T single nucleotide variant not provided [RCV003558350] Chr17:82925069 [GRCh38]
Chr17:80882945 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3479+20G>A single nucleotide variant not provided [RCV003701326] Chr17:82939496 [GRCh38]
Chr17:80897372 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+15C>T single nucleotide variant not provided [RCV003672777] Chr17:82903493 [GRCh38]
Chr17:80861369 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3138G>T (p.Thr1046=) single nucleotide variant not provided [RCV003549514] Chr17:82932682 [GRCh38]
Chr17:80890558 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2179-18G>A single nucleotide variant not provided [RCV003723484] Chr17:82923634 [GRCh38]
Chr17:80881510 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.489C>A (p.Ile163=) single nucleotide variant not provided [RCV003700440] Chr17:82768473 [GRCh38]
Chr17:80726349 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1035C>T (p.Thr345=) single nucleotide variant not provided [RCV003838833] Chr17:82805959 [GRCh38]
Chr17:80763835 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2196C>T (p.Ala732=) single nucleotide variant not provided [RCV003659473] Chr17:82923669 [GRCh38]
Chr17:80881545 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1059C>T (p.Asp353=) single nucleotide variant not provided [RCV003838090] Chr17:82805983 [GRCh38]
Chr17:80763859 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+19G>C single nucleotide variant not provided [RCV003559452] Chr17:82752396 [GRCh38]
Chr17:80710272 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2260+19T>C single nucleotide variant not provided [RCV003664096] Chr17:82923752 [GRCh38]
Chr17:80881628 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1148+11G>A single nucleotide variant not provided [RCV003549695] Chr17:82807679 [GRCh38]
Chr17:80765555 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3033C>T (p.Gly1011=) single nucleotide variant not provided [RCV003837130] Chr17:82930563 [GRCh38]
Chr17:80888439 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1101C>T (p.Val367=) single nucleotide variant not provided [RCV003837360] Chr17:82807621 [GRCh38]
Chr17:80765497 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2784C>G (p.Leu928=) single nucleotide variant not provided [RCV003559803] Chr17:82929203 [GRCh38]
Chr17:80887079 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2970G>A (p.Leu990=) single nucleotide variant not provided [RCV003717173] Chr17:82929479 [GRCh38]
Chr17:80887355 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.348A>G (p.Lys116=) single nucleotide variant not provided [RCV003832721] Chr17:82766281 [GRCh38]
Chr17:80724157 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1863G>A (p.Ser621=) single nucleotide variant not provided [RCV003833633] Chr17:82905994 [GRCh38]
Chr17:80863870 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2190C>G (p.Val730=) single nucleotide variant not provided [RCV003668275] Chr17:82923663 [GRCh38]
Chr17:80881539 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3369+11G>A single nucleotide variant not provided [RCV003665271] Chr17:82938147 [GRCh38]
Chr17:80896023 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.185-12A>G single nucleotide variant not provided [RCV003667575] Chr17:82756153 [GRCh38]
Chr17:80714029 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-20T>C single nucleotide variant not provided [RCV003814001] Chr17:82763945 [GRCh38]
Chr17:80721821 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.817+9T>C single nucleotide variant not provided [RCV003667646] Chr17:82797811 [GRCh38]
Chr17:80755687 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.185-18T>C single nucleotide variant not provided [RCV003671731] Chr17:82756147 [GRCh38]
Chr17:80714023 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-12C>T single nucleotide variant not provided [RCV003816682] Chr17:82772440 [GRCh38]
Chr17:80730316 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3417C>T (p.Tyr1139=) single nucleotide variant not provided [RCV003663904] Chr17:82939414 [GRCh38]
Chr17:80897290 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1318+17C>T single nucleotide variant not provided [RCV003831879] Chr17:82814951 [GRCh38]
Chr17:80772827 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2367C>G (p.Gly789=) single nucleotide variant not provided [RCV003850492] Chr17:82925045 [GRCh38]
Chr17:80882921 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.950+10A>T single nucleotide variant not provided [RCV003667475] Chr17:82801006 [GRCh38]
Chr17:80758882 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-20G>A single nucleotide variant not provided [RCV003836184] Chr17:82941379 [GRCh38]
Chr17:80899255 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.72C>A (p.Gly24=) single nucleotide variant not provided [RCV003834035] Chr17:82752265 [GRCh38]
Chr17:80710141 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2553G>A (p.Ala851=) single nucleotide variant not provided [RCV003838916] Chr17:82927267 [GRCh38]
Chr17:80885143 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+20C>T single nucleotide variant not provided [RCV003850060] Chr17:82766388 [GRCh38]
Chr17:80724264 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2994C>T (p.Ile998=) single nucleotide variant not provided [RCV003667541] Chr17:82930524 [GRCh38]
Chr17:80888400 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-12dup duplication not provided [RCV003558124] Chr17:82924926..82924927 [GRCh38]
Chr17:80882802..80882803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1731-11C>G single nucleotide variant not provided [RCV003668470] Chr17:82903394 [GRCh38]
Chr17:80861270 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+18T>C single nucleotide variant not provided [RCV003560327] Chr17:82911807 [GRCh38]
Chr17:80869683 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-9C>G single nucleotide variant not provided [RCV003702156] Chr17:82942440 [GRCh38]
Chr17:80900316 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1116G>A (p.Lys372=) single nucleotide variant not provided [RCV003548300] Chr17:82807636 [GRCh38]
Chr17:80765512 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.210G>A (p.Gln70=) single nucleotide variant not provided [RCV003558172] Chr17:82756190 [GRCh38]
Chr17:80714066 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3285del (p.Cys1096fs) deletion not provided [RCV003665801] Chr17:82938052 [GRCh38]
Chr17:80895928 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1079G>A (p.Arg360His) single nucleotide variant not provided [RCV003822660] Chr17:82806003 [GRCh38]
Chr17:80763879 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2380-14T>C single nucleotide variant not provided [RCV003857660] Chr17:82926386 [GRCh38]
Chr17:80884262 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.813C>G (p.Pro271=) single nucleotide variant not provided [RCV003707208] Chr17:82797798 [GRCh38]
Chr17:80755674 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.186A>G (p.Val62=) single nucleotide variant not provided [RCV003820851] Chr17:82756166 [GRCh38]
Chr17:80714042 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1326C>T (p.Ala442=) single nucleotide variant not provided [RCV003857072] Chr17:82870231 [GRCh38]
Chr17:80828107 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.818-16C>T single nucleotide variant not provided [RCV003551822] Chr17:82800848 [GRCh38]
Chr17:80758724 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1894T>C (p.Leu632=) single nucleotide variant not provided [RCV003679243] Chr17:82906025 [GRCh38]
Chr17:80863901 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3369+9C>G single nucleotide variant not provided [RCV003822600] Chr17:82938145 [GRCh38]
Chr17:80896021 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2562C>G (p.Gly854=) single nucleotide variant not provided [RCV003678805] Chr17:82927276 [GRCh38]
Chr17:80885152 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2380-13T>C single nucleotide variant not provided [RCV003861491] Chr17:82926387 [GRCh38]
Chr17:80884263 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.513C>T (p.Asp171=) single nucleotide variant not provided [RCV003846377] Chr17:82768497 [GRCh38]
Chr17:80726373 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1922+19G>A single nucleotide variant not provided [RCV003821358] Chr17:82906072 [GRCh38]
Chr17:80863948 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+12C>T single nucleotide variant not provided [RCV003846542] Chr17:82870392 [GRCh38]
Chr17:80828268 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1698_1708del (p.Leu567fs) deletion not provided [RCV003732778] Chr17:82900695..82900705 [GRCh38]
Chr17:80858571..80858581 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1000C>T (p.Gln334Ter) single nucleotide variant not provided [RCV003866477] Chr17:82805924 [GRCh38]
Chr17:80763800 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1922+8G>T single nucleotide variant not provided [RCV003736176] Chr17:82906061 [GRCh38]
Chr17:80863937 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1984-9dup duplication not provided [RCV003565139] Chr17:82909270..82909271 [GRCh38]
Chr17:80867146..80867147 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.1318+13G>A single nucleotide variant not provided [RCV003706900] Chr17:82814947 [GRCh38]
Chr17:80772823 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3114-8C>A single nucleotide variant not provided [RCV003553418] Chr17:82932650 [GRCh38]
Chr17:80890526 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.774A>C (p.Ala258=) single nucleotide variant not provided [RCV003678756] Chr17:82797759 [GRCh38]
Chr17:80755635 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.772-18C>G single nucleotide variant not provided [RCV003705337] Chr17:82797739 [GRCh38]
Chr17:80755615 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-2A>G single nucleotide variant not provided [RCV003564059] Chr17:82929360 [GRCh38]
Chr17:80887236 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2242G>A (p.Ala748Thr) single nucleotide variant Inborn genetic diseases [RCV004374162]|not provided [RCV003728916] Chr17:82923715 [GRCh38]
Chr17:80881591 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_005993.5(TBCD):c.1899C>T (p.Tyr633=) single nucleotide variant not provided [RCV003841818] Chr17:82906030 [GRCh38]
Chr17:80863906 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3309C>G (p.Gly1103=) single nucleotide variant not provided [RCV003841846] Chr17:82938076 [GRCh38]
Chr17:80895952 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3479+13C>A single nucleotide variant not provided [RCV003843114] Chr17:82939489 [GRCh38]
Chr17:80897365 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.144C>T (p.Gly48=) single nucleotide variant not provided [RCV003846783] Chr17:82752337 [GRCh38]
Chr17:80710213 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2163C>T (p.Ser721=) single nucleotide variant not provided [RCV003709001] Chr17:82921562 [GRCh38]
Chr17:80879438 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1824C>T (p.Ser608=) single nucleotide variant not provided [RCV003708954] Chr17:82905955 [GRCh38]
Chr17:80863831 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3153C>T (p.Leu1051=) single nucleotide variant not provided [RCV003675293] Chr17:82932697 [GRCh38]
Chr17:80890573 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2976C>T (p.Gly992=) single nucleotide variant not provided [RCV003842574] Chr17:82929485 [GRCh38]
Chr17:80887361 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1564-15C>A single nucleotide variant not provided [RCV003675833] Chr17:82893532 [GRCh38]
Chr17:80851408 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.48G>A (p.Ala16=) single nucleotide variant not provided [RCV003554462] Chr17:82752241 [GRCh38]
Chr17:80710117 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.583-18C>G single nucleotide variant not provided [RCV003554535] Chr17:82772434 [GRCh38]
Chr17:80730310 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1730+13T>G single nucleotide variant not provided [RCV003846284] Chr17:82900744 [GRCh38]
Chr17:80858620 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+12C>T single nucleotide variant not provided [RCV003679440] Chr17:82926503 [GRCh38]
Chr17:80884379 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.772-18C>A single nucleotide variant not provided [RCV003563035] Chr17:82797739 [GRCh38]
Chr17:80755615 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.945A>G (p.Ala315=) single nucleotide variant not provided [RCV003704636] Chr17:82800991 [GRCh38]
Chr17:80758867 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1065A>G (p.Pro355=) single nucleotide variant not provided [RCV003566541] Chr17:82805989 [GRCh38]
Chr17:80763865 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.118C>T (p.Leu40=) single nucleotide variant not provided [RCV003824334] Chr17:82752311 [GRCh38]
Chr17:80710187 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1447dup (p.Leu483fs) duplication not provided [RCV003555474] Chr17:82870351..82870352 [GRCh38]
Chr17:80828227..80828228 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.99C>T (p.Ser33=) single nucleotide variant not provided [RCV003735908] Chr17:82752292 [GRCh38]
Chr17:80710168 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+10G>T single nucleotide variant not provided [RCV003735909] Chr17:82929281 [GRCh38]
Chr17:80887157 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.7C>T (p.Leu3=) single nucleotide variant not provided [RCV003842746] Chr17:82752200 [GRCh38]
Chr17:80710076 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3159C>T (p.His1053=) single nucleotide variant not provided [RCV003820484] Chr17:82932703 [GRCh38]
Chr17:80890579 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1816C>T (p.Leu606=) single nucleotide variant not provided [RCV003709706] Chr17:82905947 [GRCh38]
Chr17:80863823 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1008G>A (p.Gln336=) single nucleotide variant not provided [RCV003841275] Chr17:82805932 [GRCh38]
Chr17:80763808 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2260+8G>A single nucleotide variant not provided [RCV003678098] Chr17:82923741 [GRCh38]
Chr17:80881617 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.756G>A (p.Gly252=) single nucleotide variant not provided [RCV003678948] Chr17:82781706 [GRCh38]
Chr17:80739582 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2022G>A (p.Gln674=) single nucleotide variant not provided [RCV003863028] Chr17:82911773 [GRCh38]
Chr17:80869649 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1533+11T>G single nucleotide variant not provided [RCV003703817] Chr17:82884213 [GRCh38]
Chr17:80842089 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3564+18A>G single nucleotide variant not provided [RCV003704825] Chr17:82941501 [GRCh38]
Chr17:80899377 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-6del deletion not provided [RCV003859368] Chr17:82884135 [GRCh38]
Chr17:80842011 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.3256C>T (p.Gln1086Ter) single nucleotide variant not provided [RCV003553479] Chr17:82937335 [GRCh38]
Chr17:80895211 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.435+16T>A single nucleotide variant not provided [RCV003566846] Chr17:82766384 [GRCh38]
Chr17:80724260 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2889C>T (p.Ser963=) single nucleotide variant not provided [RCV003861853] Chr17:82929398 [GRCh38]
Chr17:80887274 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1939_1940del (p.Leu647fs) deletion not provided [RCV003552447] Chr17:82907776..82907777 [GRCh38]
Chr17:80865652..80865653 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2992-11C>G single nucleotide variant not provided [RCV003823178] Chr17:82930511 [GRCh38]
Chr17:80888387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3561C>G (p.Pro1187=) single nucleotide variant not provided [RCV003734228] Chr17:82941480 [GRCh38]
Chr17:80899356 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1087+16G>A single nucleotide variant not provided [RCV003670741] Chr17:82806027 [GRCh38]
Chr17:80763903 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+9G>A single nucleotide variant not provided [RCV003728277] Chr17:82929280 [GRCh38]
Chr17:80887156 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.411A>G (p.Thr137=) single nucleotide variant not provided [RCV003842457] Chr17:82766344 [GRCh38]
Chr17:80724220 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-16A>G single nucleotide variant not provided [RCV003848204] Chr17:82900635 [GRCh38]
Chr17:80858511 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3351C>G (p.Leu1117=) single nucleotide variant not provided [RCV003865609] Chr17:82938118 [GRCh38]
Chr17:80895994 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+19G>A single nucleotide variant not provided [RCV003841214] Chr17:82927342 [GRCh38]
Chr17:80885218 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.874C>T (p.Leu292=) single nucleotide variant not provided [RCV003860236] Chr17:82800920 [GRCh38]
Chr17:80758796 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1944C>T (p.Asp648=) single nucleotide variant not provided [RCV003734314] Chr17:82907782 [GRCh38]
Chr17:80865658 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1242G>A (p.Lys414=) single nucleotide variant not provided [RCV003681675] Chr17:82814858 [GRCh38]
Chr17:80772734 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+20G>T single nucleotide variant not provided [RCV003568478] Chr17:82903498 [GRCh38]
Chr17:80861374 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2472-4T>C single nucleotide variant not provided [RCV003819232] Chr17:82927182 [GRCh38]
Chr17:80885058 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2039-13T>A single nucleotide variant not provided [RCV003822224] Chr17:82920543 [GRCh38]
Chr17:80878419 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.57G>A (p.Glu19=) single nucleotide variant not provided [RCV003734399] Chr17:82752250 [GRCh38]
Chr17:80710126 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2863G>A (p.Ala955Thr) single nucleotide variant not provided [RCV003847460] Chr17:82929372 [GRCh38]
Chr17:80887248 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1665C>T (p.Gly555=) single nucleotide variant not provided [RCV003841636] Chr17:82900666 [GRCh38]
Chr17:80858542 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-5T>C single nucleotide variant not provided [RCV003678281] Chr17:82911753 [GRCh38]
Chr17:80869629 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3099C>G (p.Asn1033Lys) single nucleotide variant not provided [RCV003734680] Chr17:82930629 [GRCh38]
Chr17:80888505 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_005993.5(TBCD):c.1134G>A (p.Trp378Ter) single nucleotide variant not provided [RCV003867199] Chr17:82807654 [GRCh38]
Chr17:80765530 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2006+7T>C single nucleotide variant not provided [RCV003863163] Chr17:82909314 [GRCh38]
Chr17:80867190 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1224-325_1253delinsA indel not provided [RCV003568052] Chr17:82814515..82814869 [GRCh38]
Chr17:80772391..80772745 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1923-6C>T single nucleotide variant not provided [RCV003733078] Chr17:82907755 [GRCh38]
Chr17:80865631 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+10A>C single nucleotide variant not provided [RCV003719427] Chr17:82926501 [GRCh38]
Chr17:80884377 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.798T>G (p.Arg266=) single nucleotide variant not provided [RCV003722258] Chr17:82797783 [GRCh38]
Chr17:80755659 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1984-18T>C single nucleotide variant not provided [RCV003675648] Chr17:82909267 [GRCh38]
Chr17:80867143 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3180C>T (p.Thr1060=) single nucleotide variant not provided [RCV003678554] Chr17:82932724 [GRCh38]
Chr17:80890600 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1223+20G>A single nucleotide variant not provided [RCV003553754] Chr17:82809802 [GRCh38]
Chr17:80767678 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1488T>A (p.Ile496=) single nucleotide variant not provided [RCV003841942] Chr17:82884157 [GRCh38]
Chr17:80842033 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+17A>T single nucleotide variant not provided [RCV003706481] Chr17:82889714 [GRCh38]
Chr17:80847590 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2598C>T (p.Asp866=) single nucleotide variant not provided [RCV003822670] Chr17:82927312 [GRCh38]
Chr17:80885188 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1984-10T>G single nucleotide variant not provided [RCV003683696] Chr17:82909275 [GRCh38]
Chr17:80867151 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2079C>T (p.Pro693=) single nucleotide variant not provided [RCV003705137] Chr17:82920596 [GRCh38]
Chr17:80878472 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3114-17G>T single nucleotide variant not provided [RCV003677302] Chr17:82932641 [GRCh38]
Chr17:80890517 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.465C>G (p.Leu155=) single nucleotide variant not provided [RCV003731461] Chr17:82768449 [GRCh38]
Chr17:80726325 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1224-7C>T single nucleotide variant not provided [RCV003683871] Chr17:82814833 [GRCh38]
Chr17:80772709 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.111G>A (p.Arg37=) single nucleotide variant not provided [RCV003722615] Chr17:82752304 [GRCh38]
Chr17:80710180 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1302_1318+73del deletion not provided [RCV003722617] Chr17:82814889..82814978 [GRCh38]
Chr17:80772765..80772854 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1127T>C (p.Val376Ala) single nucleotide variant not provided [RCV003682848] Chr17:82807647 [GRCh38]
Chr17:80765523 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1257A>T (p.Gly419=) single nucleotide variant not provided [RCV003684572] Chr17:82814873 [GRCh38]
Chr17:80772749 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1890C>T (p.Tyr630=) single nucleotide variant not provided [RCV003871193] Chr17:82906021 [GRCh38]
Chr17:80863897 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-16A>T single nucleotide variant not provided [RCV003853602] Chr17:82929346 [GRCh38]
Chr17:80887222 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1221C>T (p.Phe407=) single nucleotide variant not provided [RCV003871271] Chr17:82809780 [GRCh38]
Chr17:80767656 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1071G>A (p.Gly357=) single nucleotide variant not provided [RCV003710447] Chr17:82805995 [GRCh38]
Chr17:80763871 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.967C>A (p.Arg323=) single nucleotide variant not provided [RCV003710486] Chr17:82805891 [GRCh38]
Chr17:80763767 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1614C>T (p.Ala538=) single nucleotide variant not provided [RCV003853872] Chr17:82893597 [GRCh38]
Chr17:80851473 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+10A>C single nucleotide variant not provided [RCV003552521] Chr17:82911799 [GRCh38]
Chr17:80869675 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1536C>T (p.Ala512=) single nucleotide variant not provided [RCV003869783] Chr17:82889670 [GRCh38]
Chr17:80847546 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2301C>G (p.Pro767=) single nucleotide variant not provided [RCV003871618] Chr17:82924979 [GRCh38]
Chr17:80882855 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+11C>T single nucleotide variant not provided [RCV003845828] Chr17:82766379 [GRCh38]
Chr17:80724255 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1266G>A (p.Ala422=) single nucleotide variant not provided [RCV003554718] Chr17:82814882 [GRCh38]
Chr17:80772758 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1569T>C (p.Thr523=) single nucleotide variant TBCD-related disorder [RCV003966510]|not provided [RCV003554745] Chr17:82893552 [GRCh38]
Chr17:80851428 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-14A>T single nucleotide variant not provided [RCV003710870] Chr17:82763951 [GRCh38]
Chr17:80721827 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3051G>A (p.Gln1017=) single nucleotide variant not provided [RCV003556706] Chr17:82930581 [GRCh38]
Chr17:80888457 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.951-4A>G single nucleotide variant not provided [RCV003854166] Chr17:82805871 [GRCh38]
Chr17:80763747 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.54C>T (p.Asp18=) single nucleotide variant not provided [RCV003710994] Chr17:82752247 [GRCh38]
Chr17:80710123 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2571C>T (p.Asp857=) single nucleotide variant not provided [RCV003867896] Chr17:82927285 [GRCh38]
Chr17:80885161 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1677C>T (p.Tyr559=) single nucleotide variant not provided [RCV003870030] Chr17:82900678 [GRCh38]
Chr17:80858554 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.333+11C>G single nucleotide variant not provided [RCV003565764] Chr17:82764073 [GRCh38]
Chr17:80721949 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1087+20C>T single nucleotide variant not provided [RCV003821834] Chr17:82806031 [GRCh38]
Chr17:80763907 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1005T>G (p.Gly335=) single nucleotide variant not provided [RCV003681761] Chr17:82805929 [GRCh38]
Chr17:80763805 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.987G>A (p.Leu329=) single nucleotide variant not provided [RCV003681775] Chr17:82805911 [GRCh38]
Chr17:80763787 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3318G>A (p.Arg1106=) single nucleotide variant not provided [RCV003718736] Chr17:82938085 [GRCh38]
Chr17:80895961 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.351A>G (p.Thr117=) single nucleotide variant not provided [RCV003868069] Chr17:82766284 [GRCh38]
Chr17:80724160 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1650-20C>G single nucleotide variant not provided [RCV003704474] Chr17:82900631 [GRCh38]
Chr17:80858507 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1236T>G (p.Thr412=) single nucleotide variant not provided [RCV003675326] Chr17:82814852 [GRCh38]
Chr17:80772728 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1983+20G>A single nucleotide variant not provided [RCV003676590] Chr17:82907841 [GRCh38]
Chr17:80865717 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3048G>T (p.Pro1016=) single nucleotide variant not provided [RCV003564485] Chr17:82930578 [GRCh38]
Chr17:80888454 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2916C>A (p.Leu972=) single nucleotide variant not provided [RCV003846571] Chr17:82929425 [GRCh38]
Chr17:80887301 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2194dup (p.Ala732fs) duplication not provided [RCV003719035] Chr17:82923665..82923666 [GRCh38]
Chr17:80881541..80881542 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2874C>T (p.Asn958=) single nucleotide variant not provided [RCV003719803] Chr17:82929383 [GRCh38]
Chr17:80887259 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.3(chr17:80726070-80841816)x3 copy number gain not specified [RCV003987264] Chr17:80726070..80841816 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.435+20C>A single nucleotide variant not provided [RCV003707312] Chr17:82766388 [GRCh38]
Chr17:80724264 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3156C>T (p.Thr1052=) single nucleotide variant not provided [RCV003734471] Chr17:82932700 [GRCh38]
Chr17:80890576 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1056C>T (p.Asp352=) single nucleotide variant not provided [RCV003866919] Chr17:82805980 [GRCh38]
Chr17:80763856 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2992-20G>C single nucleotide variant not provided [RCV003869220] Chr17:82930502 [GRCh38]
Chr17:80888378 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.108C>G (p.Thr36=) single nucleotide variant not provided [RCV003720979] Chr17:82752301 [GRCh38]
Chr17:80710177 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.818-12del deletion not provided [RCV003564479] Chr17:82800851 [GRCh38]
Chr17:80758727 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1850_1851inv (p.Met617Thr) inversion not provided [RCV003844476] Chr17:82905981..82905982 [GRCh38]
Chr17:80863857..80863858 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2472-19C>T single nucleotide variant not provided [RCV003685926] Chr17:82927167 [GRCh38]
Chr17:80885043 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-9C>A single nucleotide variant not provided [RCV003841657] Chr17:82942440 [GRCh38]
Chr17:80900316 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1730+12G>A single nucleotide variant not provided [RCV003704836] Chr17:82900743 [GRCh38]
Chr17:80858619 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.185-17G>A single nucleotide variant not provided [RCV003711382] Chr17:82756148 [GRCh38]
Chr17:80714024 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3399C>T (p.Tyr1133=) single nucleotide variant TBCD-related disorder [RCV004753709]|not provided [RCV003720105] Chr17:82939396 [GRCh38]
Chr17:80897272 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1800G>A (p.Thr600=) single nucleotide variant not provided [RCV003720104] Chr17:82903474 [GRCh38]
Chr17:80861350 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3411C>A (p.Leu1137=) single nucleotide variant not provided [RCV003721291] Chr17:82939408 [GRCh38]
Chr17:80897284 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1731-7C>T single nucleotide variant not provided [RCV003564702] Chr17:82903398 [GRCh38]
Chr17:80861274 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3282-17T>C single nucleotide variant not provided [RCV003818210] Chr17:82938032 [GRCh38]
Chr17:80895908 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+9G>T single nucleotide variant not provided [RCV003707748] Chr17:82889706 [GRCh38]
Chr17:80847582 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.334-10T>C single nucleotide variant not provided [RCV003822461] Chr17:82766257 [GRCh38]
Chr17:80724133 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.818-10T>C single nucleotide variant not provided [RCV003682368] Chr17:82800854 [GRCh38]
Chr17:80758730 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1167C>T (p.Gly389=) single nucleotide variant not provided [RCV003677148] Chr17:82809726 [GRCh38]
Chr17:80767602 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.552C>T (p.Ser184=) single nucleotide variant not provided [RCV003719303] Chr17:82768536 [GRCh38]
Chr17:80726412 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.697C>T (p.Leu233=) single nucleotide variant not provided [RCV003685233] Chr17:82781647 [GRCh38]
Chr17:80739523 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-13C>T single nucleotide variant not provided [RCV003868640] Chr17:82807595 [GRCh38]
Chr17:80765471 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2609+9G>A single nucleotide variant not provided [RCV003721693] Chr17:82927332 [GRCh38]
Chr17:80885208 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1275G>A (p.Glu425=) single nucleotide variant not provided [RCV003563635] Chr17:82814891 [GRCh38]
Chr17:80772767 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2781G>A (p.Thr927=) single nucleotide variant not provided [RCV003869839] Chr17:82929200 [GRCh38]
Chr17:80887076 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.876G>C (p.Leu292=) single nucleotide variant not provided [RCV003550643] Chr17:82800922 [GRCh38]
Chr17:80758798 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2940C>T (p.Tyr980=) single nucleotide variant TBCD-related disorder [RCV003954294]|not provided [RCV003566769] Chr17:82929449 [GRCh38]
Chr17:80887325 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3034dup (p.Ile1012fs) duplication not provided [RCV003568763] Chr17:82930563..82930564 [GRCh38]
Chr17:80888439..80888440 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1395C>T (p.Asp465=) single nucleotide variant not provided [RCV003731718] Chr17:82870300 [GRCh38]
Chr17:80828176 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2994C>A (p.Ile998=) single nucleotide variant not provided [RCV003861861] Chr17:82930524 [GRCh38]
Chr17:80888400 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-5T>C single nucleotide variant not provided [RCV003861882] Chr17:82924934 [GRCh38]
Chr17:80882810 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-8C>A single nucleotide variant not provided [RCV003710351] Chr17:82911750 [GRCh38]
Chr17:80869626 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1374C>T (p.Ser458=) single nucleotide variant not provided [RCV003735745] Chr17:82870279 [GRCh38]
Chr17:80828155 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.817+19A>G single nucleotide variant not provided [RCV003706782] Chr17:82797821 [GRCh38]
Chr17:80755697 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1869C>T (p.Leu623=) single nucleotide variant not provided [RCV003734090] Chr17:82906000 [GRCh38]
Chr17:80863876 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+11G>T single nucleotide variant not provided [RCV003869037] Chr17:82752388 [GRCh38]
Chr17:80710264 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-14T>C single nucleotide variant not provided [RCV003564169] Chr17:82884131 [GRCh38]
Chr17:80842007 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-20G>T single nucleotide variant not provided [RCV003860480] Chr17:82941379 [GRCh38]
Chr17:80899255 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.817+2T>C single nucleotide variant not provided [RCV003675242] Chr17:82797804 [GRCh38]
Chr17:80755680 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2064A>G (p.Ser688=) single nucleotide variant not provided [RCV003859051] Chr17:82920581 [GRCh38]
Chr17:80878457 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3015C>T (p.Leu1005=) single nucleotide variant not provided [RCV003707263] Chr17:82930545 [GRCh38]
Chr17:80888421 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.759G>A (p.Thr253=) single nucleotide variant not provided [RCV003821829] Chr17:82781709 [GRCh38]
Chr17:80739585 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1804+9G>T single nucleotide variant not provided [RCV003683683] Chr17:82903487 [GRCh38]
Chr17:80861363 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1922+7A>G single nucleotide variant not provided [RCV003718740] Chr17:82906060 [GRCh38]
Chr17:80863936 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.235+18T>C single nucleotide variant not provided [RCV003704715] Chr17:82756233 [GRCh38]
Chr17:80714109 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.450C>A (p.Arg150=) single nucleotide variant not provided [RCV003676481] Chr17:82768434 [GRCh38]
Chr17:80726310 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.235+20A>G single nucleotide variant not provided [RCV003718630] Chr17:82756235 [GRCh38]
Chr17:80714111 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.185-13T>C single nucleotide variant not provided [RCV003823193] Chr17:82756152 [GRCh38]
Chr17:80714028 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1680G>T (p.Thr560=) single nucleotide variant not provided [RCV003863872] Chr17:82900681 [GRCh38]
Chr17:80858557 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2169G>A (p.Gln723=) single nucleotide variant not provided [RCV003704606] Chr17:82921568 [GRCh38]
Chr17:80879444 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2445G>A (p.Arg815=) single nucleotide variant not provided [RCV003733323] Chr17:82926465 [GRCh38]
Chr17:80884341 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.771+10G>C single nucleotide variant not provided [RCV003733633] Chr17:82781731 [GRCh38]
Chr17:80739607 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2343C>T (p.Ala781=) single nucleotide variant not provided [RCV003675464] Chr17:82925021 [GRCh38]
Chr17:80882897 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.330C>G (p.Thr110=) single nucleotide variant not provided [RCV003846471] Chr17:82764059 [GRCh38]
Chr17:80721935 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3096C>T (p.Asp1032=) single nucleotide variant not provided [RCV003567311] Chr17:82930626 [GRCh38]
Chr17:80888502 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2682C>T (p.Ile894=) single nucleotide variant not provided [RCV003733807] Chr17:82927977 [GRCh38]
Chr17:80885853 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1504C>T (p.Arg502Ter) single nucleotide variant not provided [RCV003682001] Chr17:82884173 [GRCh38]
Chr17:80842049 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2179-19del deletion not provided [RCV003711335] Chr17:82923632 [GRCh38]
Chr17:80881508 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1962C>T (p.Gly654=) single nucleotide variant not provided [RCV003675559] Chr17:82907800 [GRCh38]
Chr17:80865676 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2852+24del deletion not provided [RCV003711445] Chr17:82929290 [GRCh38]
Chr17:80887166 [GRCh37]
Chr17:17q25.3		 benign
NM_005993.5(TBCD):c.2852+20C>A single nucleotide variant not provided [RCV003711446] Chr17:82929291 [GRCh38]
Chr17:80887167 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2688C>T (p.Ala896=) single nucleotide variant not provided [RCV003683490] Chr17:82927983 [GRCh38]
Chr17:80885859 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3370-7G>C single nucleotide variant not provided [RCV003731876] Chr17:82939360 [GRCh38]
Chr17:80897236 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3113+18G>A single nucleotide variant not provided [RCV003864001] Chr17:82930661 [GRCh38]
Chr17:80888537 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+15C>T single nucleotide variant not provided [RCV003848495] Chr17:82911804 [GRCh38]
Chr17:80869680 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1319-15C>T single nucleotide variant not provided [RCV003819453] Chr17:82870209 [GRCh38]
Chr17:80828085 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1318+20T>A single nucleotide variant not provided [RCV003563189] Chr17:82814954 [GRCh38]
Chr17:80772830 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.334-5G>A single nucleotide variant not provided [RCV003553282] Chr17:82766262 [GRCh38]
Chr17:80724138 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3432C>T (p.Gly1144=) single nucleotide variant not provided [RCV003732194] Chr17:82939429 [GRCh38]
Chr17:80897305 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-19G>T single nucleotide variant not provided [RCV003858058] Chr17:82941380 [GRCh38]
Chr17:80899256 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1223+7G>C single nucleotide variant not provided [RCV003676929] Chr17:82809789 [GRCh38]
Chr17:80767665 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1534-6C>T single nucleotide variant not provided [RCV003681250] Chr17:82889662 [GRCh38]
Chr17:80847538 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2925G>T (p.Leu975=) single nucleotide variant not provided [RCV003681330] Chr17:82929434 [GRCh38]
Chr17:80887310 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1113C>T (p.Asp371=) single nucleotide variant not provided [RCV003675781] Chr17:82807633 [GRCh38]
Chr17:80765509 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3480-14C>T single nucleotide variant not provided [RCV003670740] Chr17:82941385 [GRCh38]
Chr17:80899261 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.837C>T (p.Cys279=) single nucleotide variant not provided [RCV003841801] Chr17:82800883 [GRCh38]
Chr17:80758759 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-12C>T single nucleotide variant not provided [RCV003567553] Chr17:82807596 [GRCh38]
Chr17:80765472 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1731-15T>C single nucleotide variant not provided [RCV003840740] Chr17:82903390 [GRCh38]
Chr17:80861266 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.184+13C>T single nucleotide variant not provided [RCV003542627] Chr17:82752390 [GRCh38]
Chr17:80710266 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2694-17C>T single nucleotide variant not provided [RCV003853679] Chr17:82929096 [GRCh38]
Chr17:80886972 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2471+14G>A single nucleotide variant not provided [RCV003857138] Chr17:82926505 [GRCh38]
Chr17:80884381 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3114-14C>T single nucleotide variant not provided [RCV003858367] Chr17:82932644 [GRCh38]
Chr17:80890520 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1819C>T (p.Leu607=) single nucleotide variant not provided [RCV003858213] Chr17:82905950 [GRCh38]
Chr17:80863826 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2379+17G>A single nucleotide variant not provided [RCV003843403] Chr17:82925074 [GRCh38]
Chr17:80882950 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2577C>T (p.Tyr859=) single nucleotide variant not provided [RCV003735853] Chr17:82927291 [GRCh38]
Chr17:80885167 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2040G>C (p.Val680=) single nucleotide variant not provided [RCV003866051] Chr17:82920557 [GRCh38]
Chr17:80878433 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-19A>G single nucleotide variant not provided [RCV003822029] Chr17:82781570 [GRCh38]
Chr17:80739446 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2992-16T>C single nucleotide variant not provided [RCV003846539] Chr17:82930506 [GRCh38]
Chr17:80888382 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.944C>T (p.Ala315Val) single nucleotide variant not provided [RCV003678195] Chr17:82800990 [GRCh38]
Chr17:80758866 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.138G>T (p.Val46=) single nucleotide variant not provided [RCV003566088] Chr17:82752331 [GRCh38]
Chr17:80710207 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2916C>T (p.Leu972=) single nucleotide variant not provided [RCV003846532] Chr17:82929425 [GRCh38]
Chr17:80887301 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-4C>G single nucleotide variant not provided [RCV003567938] Chr17:82763961 [GRCh38]
Chr17:80721837 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2610-6C>T single nucleotide variant not provided [RCV003734179] Chr17:82927899 [GRCh38]
Chr17:80885775 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2424C>T (p.Asp808=) single nucleotide variant not provided [RCV003819890] Chr17:82926444 [GRCh38]
Chr17:80884320 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.951-17T>C single nucleotide variant not provided [RCV003566138] Chr17:82805858 [GRCh38]
Chr17:80763734 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2853-19C>T single nucleotide variant not provided [RCV003709562] Chr17:82929343 [GRCh38]
Chr17:80887219 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+16C>T single nucleotide variant not provided [RCV003844810] Chr17:82928004 [GRCh38]
Chr17:80885880 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.236-19T>G single nucleotide variant not provided [RCV003553685] Chr17:82763946 [GRCh38]
Chr17:80721822 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3522G>A (p.Leu1174=) single nucleotide variant not provided [RCV003681611] Chr17:82941441 [GRCh38]
Chr17:80899317 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.127C>T (p.Leu43=) single nucleotide variant not provided [RCV003728735] Chr17:82752320 [GRCh38]
Chr17:80710196 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2082T>C (p.Phe694=) single nucleotide variant not provided [RCV003676027] Chr17:82920599 [GRCh38]
Chr17:80878475 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-8T>C single nucleotide variant not provided [RCV003843584] Chr17:82942441 [GRCh38]
Chr17:80900317 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-13C>A single nucleotide variant not provided [RCV003550627] Chr17:82884132 [GRCh38]
Chr17:80842008 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-19T>C single nucleotide variant not provided [RCV003706514] Chr17:82884126 [GRCh38]
Chr17:80842002 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.219G>C (p.Leu73=) single nucleotide variant not provided [RCV003678533] Chr17:82756199 [GRCh38]
Chr17:80714075 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2281C>T (p.Leu761=) single nucleotide variant not provided [RCV003553355] Chr17:82924959 [GRCh38]
Chr17:80882835 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2007-18G>A single nucleotide variant not provided [RCV003568256] Chr17:82911740 [GRCh38]
Chr17:80869616 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1923-5T>C single nucleotide variant not provided [RCV003562733] Chr17:82907756 [GRCh38]
Chr17:80865632 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-11C>T single nucleotide variant not provided [RCV003818747] Chr17:82942438 [GRCh38]
Chr17:80900314 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1308A>G (p.Arg436=) single nucleotide variant not provided [RCV003857490] Chr17:82814924 [GRCh38]
Chr17:80772800 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3513C>T (p.Arg1171=) single nucleotide variant not provided [RCV003842628] Chr17:82941432 [GRCh38]
Chr17:80899308 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1534-5C>T single nucleotide variant not provided [RCV003853918] Chr17:82889663 [GRCh38]
Chr17:80847539 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1475+18G>C single nucleotide variant not provided [RCV003565285] Chr17:82870398 [GRCh38]
Chr17:80828274 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.772-7T>C single nucleotide variant not provided [RCV003566265] Chr17:82797750 [GRCh38]
Chr17:80755626 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-8_3565-7del deletion not provided [RCV003863083] Chr17:82942441..82942442 [GRCh38]
Chr17:80900317..80900318 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2235G>A (p.Pro745=) single nucleotide variant not provided [RCV003822636] Chr17:82923708 [GRCh38]
Chr17:80881584 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1476-1G>T single nucleotide variant not provided [RCV003675150] Chr17:82884144 [GRCh38]
Chr17:80842020 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.638+10C>T single nucleotide variant not provided [RCV003733382] Chr17:82772517 [GRCh38]
Chr17:80730393 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2260+14C>T single nucleotide variant not provided [RCV003541915] Chr17:82923747 [GRCh38]
Chr17:80881623 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3050A>G (p.Gln1017Arg) single nucleotide variant not provided [RCV003842623] Chr17:82930580 [GRCh38]
Chr17:80888456 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.950+20T>G single nucleotide variant not provided [RCV003675163] Chr17:82801016 [GRCh38]
Chr17:80758892 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2469G>A (p.Ala823=) single nucleotide variant TBCD-related disorder [RCV003893511]|not provided [RCV003858634] Chr17:82926489 [GRCh38]
Chr17:80884365 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.610C>T (p.Arg204Ter) single nucleotide variant not provided [RCV003679560] Chr17:82772479 [GRCh38]
Chr17:80730355 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2693+18G>A single nucleotide variant not provided [RCV003861378] Chr17:82928006 [GRCh38]
Chr17:80885882 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+17C>T single nucleotide variant not provided [RCV003845358] Chr17:82766385 [GRCh38]
Chr17:80724261 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2038+18T>G single nucleotide variant not provided [RCV003566737] Chr17:82911807 [GRCh38]
Chr17:80869683 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2604C>T (p.Gly868=) single nucleotide variant not provided [RCV003857609] Chr17:82927318 [GRCh38]
Chr17:80885194 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2992-18G>A single nucleotide variant not provided [RCV003675243] Chr17:82930504 [GRCh38]
Chr17:80888380 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1805-18C>T single nucleotide variant not provided [RCV003821477] Chr17:82905918 [GRCh38]
Chr17:80863794 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+13G>A single nucleotide variant not provided [RCV003843975] Chr17:82766381 [GRCh38]
Chr17:80724257 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2436T>A (p.Ala812=) single nucleotide variant not provided [RCV003821653] Chr17:82926456 [GRCh38]
Chr17:80884332 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2693+15G>A single nucleotide variant not provided [RCV003847093] Chr17:82928003 [GRCh38]
Chr17:80885879 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1845T>C (p.Leu615=) single nucleotide variant not provided [RCV003863826] Chr17:82905976 [GRCh38]
Chr17:80863852 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.863C>T (p.Pro288Leu) single nucleotide variant ZNF750-related disorder [RCV003977377] Chr17:82831592 [GRCh38]
Chr17:80789468 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1501G>T (p.Ala501Ser) single nucleotide variant not specified [RCV004492502] Chr17:82830813 [GRCh38]
Chr17:80788689 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1088-5T>C single nucleotide variant not provided [RCV003993311] Chr17:82807603 [GRCh38]
Chr17:80765479 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.308A>G (p.Gln103Arg) single nucleotide variant not specified [RCV004492510] Chr17:82832147 [GRCh38]
Chr17:80790023 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2882C>T (p.Ala961Val) single nucleotide variant not provided [RCV003993020] Chr17:82929391 [GRCh38]
Chr17:80887267 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.525C>T (p.Asn175=) single nucleotide variant ZNF750-related disorder [RCV003979782] Chr17:82831930 [GRCh38]
Chr17:80789806 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1610A>G (p.Gln537Arg) single nucleotide variant not specified [RCV004492503] Chr17:82830704 [GRCh38]
Chr17:80788580 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1931A>G (p.Tyr644Cys) single nucleotide variant not specified [RCV004492504] Chr17:82830383 [GRCh38]
Chr17:80788259 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2111A>C (p.Lys704Thr) single nucleotide variant not specified [RCV004492506] Chr17:82830203 [GRCh38]
Chr17:80788079 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.280G>A (p.Gly94Arg) single nucleotide variant not specified [RCV004492508] Chr17:82832175 [GRCh38]
Chr17:80790051 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.304C>G (p.Leu102Val) single nucleotide variant not specified [RCV004492509] Chr17:82832151 [GRCh38]
Chr17:80790027 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.593C>T (p.Ser198Leu) single nucleotide variant not specified [RCV004492512] Chr17:82831862 [GRCh38]
Chr17:80789738 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1125C>G (p.Val375=) single nucleotide variant ZNF750-related disorder [RCV003934746] Chr17:82831330 [GRCh38]
Chr17:80789206 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.828C>T (p.Tyr276=) single nucleotide variant ZNF750-related disorder [RCV003978965]|not provided [RCV004810660] Chr17:82831627 [GRCh38]
Chr17:80789503 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.703A>G (p.Met235Val) single nucleotide variant ZNF750-related disorder [RCV003982150] Chr17:82831752 [GRCh38]
Chr17:80789628 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.473G>A (p.Arg158Gln) single nucleotide variant ZNF750-related disorder [RCV003931810] Chr17:82831982 [GRCh38]
Chr17:80789858 [GRCh37]
Chr17:17q25.3		 benign
NM_024702.3(ZNF750):c.1984G>A (p.Ala662Thr) single nucleotide variant not specified [RCV004492505] Chr17:82830330 [GRCh38]
Chr17:80788206 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.553C>T (p.His185Tyr) single nucleotide variant not specified [RCV004492511] Chr17:82831902 [GRCh38]
Chr17:80789778 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1245G>A (p.Pro415=) single nucleotide variant not provided [RCV003885815] Chr17:82831210 [GRCh38]
Chr17:80789086 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2936G>T (p.Arg979Leu) single nucleotide variant Inborn genetic diseases [RCV004474122] Chr17:82929445 [GRCh38]
Chr17:80887321 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3070G>A (p.Gly1024Arg) single nucleotide variant Inborn genetic diseases [RCV004474123] Chr17:82930600 [GRCh38]
Chr17:80888476 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3510G>T (p.Gln1170His) single nucleotide variant Inborn genetic diseases [RCV004474124] Chr17:82941429 [GRCh38]
Chr17:80899305 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.739G>A (p.Val247Ile) single nucleotide variant Inborn genetic diseases [RCV004474125] Chr17:82781689 [GRCh38]
Chr17:80739565 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1156A>G (p.Arg386Gly) single nucleotide variant Inborn genetic diseases [RCV004474117] Chr17:82809715 [GRCh38]
Chr17:80767591 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1224T>C (p.Ser408=) single nucleotide variant Inborn genetic diseases [RCV004474118] Chr17:82814840 [GRCh38]
Chr17:80772716 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1387G>A (p.Val463Ile) single nucleotide variant Inborn genetic diseases [RCV004474119] Chr17:82870292 [GRCh38]
Chr17:80828168 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1994G>A (p.Arg665His) single nucleotide variant Inborn genetic diseases [RCV004474120] Chr17:82909295 [GRCh38]
Chr17:80867171 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2224A>G (p.Met742Val) single nucleotide variant Inborn genetic diseases [RCV004474121] Chr17:82923697 [GRCh38]
Chr17:80881573 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1403A>G (p.Gln468Arg) single nucleotide variant not specified [RCV004601914] Chr17:82831052 [GRCh38]
Chr17:80788928 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80039865)_(80901020_?)dup duplication Epileptic encephalopathy [RCV004581215] Chr17:80039865..80901020 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_79477716)_(80901020_?)dup duplication not provided [RCV004581372] Chr17:79477716..80901020 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_80710070)_(80772830_?)del deletion not provided [RCV004581404] Chr17:80710070..80772830 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80710070)_(80730403_?)del deletion not provided [RCV004581405] Chr17:80710070..80730403 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80765464)_(80869685_?)del deletion not provided [RCV004581406] Chr17:80765464..80869685 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80882795)_(80887396_?)dup duplication not provided [RCV004581412] Chr17:80882795..80887396 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NC_000017.10:g.(?_80869658)_(80872024_?)del deletion not provided [RCV004581413] Chr17:80869658..80872024 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NC_000017.10:g.(?_80710070)_(80710273_?)del deletion not provided [RCV004581400] Chr17:80710070..80710273 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80739445)_(80739617_?)del deletion not provided [RCV004581401] Chr17:80739445..80739617 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80828080)_(80900339_?)del deletion not provided [RCV004581407] Chr17:80828080..80900339 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80847524)_(80881629_?)del deletion not provided [RCV004581408] Chr17:80847524..80881629 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80851403)_(80867203_?)del deletion not provided [RCV004581409] Chr17:80851403..80867203 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80858507)_(80861374_?)del deletion not provided [RCV004581410] Chr17:80858507..80861374 [GRCh37]
Chr17:17q25.3		 pathogenic
NC_000017.10:g.(?_80714021)_(80721958_?)dup duplication not provided [RCV004581411] Chr17:80714021..80721958 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_024702.3(ZNF750):c.1955G>A (p.Gly652Asp) single nucleotide variant not specified [RCV004601916] Chr17:82830359 [GRCh38]
Chr17:80788235 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.712C>T (p.Arg238Cys) single nucleotide variant Inborn genetic diseases [RCV004673492]|not provided [RCV005103479] Chr17:82781662 [GRCh38]
Chr17:80739538 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.255G>T (p.Leu85Phe) single nucleotide variant Inborn genetic diseases [RCV004673493] Chr17:82763984 [GRCh38]
Chr17:80721860 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3300G>C (p.Gln1100His) single nucleotide variant Inborn genetic diseases [RCV004673494] Chr17:82938067 [GRCh38]
Chr17:80895943 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3472_3473del (p.Thr1158fs) microsatellite not specified [RCV004587942] Chr17:82939467..82939468 [GRCh38]
Chr17:80897343..80897344 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.379G>C (p.Ala127Pro) single nucleotide variant Inborn genetic diseases [RCV004682033] Chr17:82766312 [GRCh38]
Chr17:80724188 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1309G>A (p.Ala437Thr) single nucleotide variant not specified [RCV004601919] Chr17:82831146 [GRCh38]
Chr17:80789022 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.505A>G (p.Arg169Gly) single nucleotide variant not specified [RCV004601918] Chr17:82831950 [GRCh38]
Chr17:80789826 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1172G>A (p.Gly391Glu) single nucleotide variant not specified [RCV004601915] Chr17:82831283 [GRCh38]
Chr17:80789159 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1409C>A (p.Ala470Asp) single nucleotide variant not specified [RCV004601917] Chr17:82831046 [GRCh38]
Chr17:80788922 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(80899360_80900324)_(80903791_?)dup duplication not specified [RCV004699976] Chr17:80900324..80903791 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3313G>A (p.Val1105Met) single nucleotide variant not specified [RCV004702782] Chr17:82938080 [GRCh38]
Chr17:80895956 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.452A>C (p.Tyr151Ser) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004759586]   uncertain significance
NM_005993.5(TBCD):c.3356A>G (p.His1119Arg) single nucleotide variant not provided [RCV004762834]   uncertain significance
NM_005993.5(TBCD):c.1201G>A (p.Gly401Arg) single nucleotide variant not provided [RCV004790699] Chr17:82809760 [GRCh38]
Chr17:80767636 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.435+1del deletion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004703136] Chr17:82766369 [GRCh38]
Chr17:80724245 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2892_2901del (p.Gln964fs) deletion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV005022828] Chr17:82929393..82929402 [GRCh38]
Chr17:80887269..80887278 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17q25.3(chr17:80155999-80965287)x3 copy number gain not provided [RCV004819632] Chr17:80155999..80965287 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2001A>T (p.Leu667Phe) single nucleotide variant Inborn genetic diseases [RCV004971354] Chr17:82909302 [GRCh38]
Chr17:80867178 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3182C>T (p.Thr1061Met) single nucleotide variant Inborn genetic diseases [RCV004971356] Chr17:82932726 [GRCh38]
Chr17:80890602 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3280G>A (p.Val1094Met) single nucleotide variant Inborn genetic diseases [RCV004971357] Chr17:82937359 [GRCh38]
Chr17:80895235 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3266T>C (p.Leu1089Pro) single nucleotide variant Inborn genetic diseases [RCV004971360] Chr17:82937345 [GRCh38]
Chr17:80895221 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:79663142-81041938)x1 copy number loss not provided [RCV004819392] Chr17:79663142..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3311_3320delinsGT (p.Asp1104fs) indel Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV005026162] Chr17:82938078..82938087 [GRCh38]
Chr17:80895954..80895963 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1505G>A (p.Arg502Gln) single nucleotide variant Inborn genetic diseases [RCV004971359] Chr17:82884174 [GRCh38]
Chr17:80842050 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.950+2T>C single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV004821061] Chr17:82800998 [GRCh38]
Chr17:80758874 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.2260G>T (p.Glu754Ter) single nucleotide variant Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV005026161] Chr17:82923733 [GRCh38]
Chr17:80881609 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1039G>A (p.Asp347Asn) single nucleotide variant Inborn genetic diseases [RCV004971355] Chr17:82805963 [GRCh38]
Chr17:80763839 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1498T>C (p.Phe500Leu) single nucleotide variant Inborn genetic diseases [RCV004971358] Chr17:82884167 [GRCh38]
Chr17:80842043 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2650C>G (p.Leu884Val) single nucleotide variant Inborn genetic diseases [RCV004971353] Chr17:82927945 [GRCh38]
Chr17:80885821 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1926C>G (p.Pro642=) single nucleotide variant not provided [RCV005087963] Chr17:82907764 [GRCh38]
Chr17:80865640 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2792_2793insG (p.Phe931fs) insertion Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome [RCV005229624] Chr17:82929211..82929212 [GRCh38]
Chr17:80887087..80887088 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.2391T>C (p.Gly797=) single nucleotide variant not provided [RCV005171516] Chr17:82926411 [GRCh38]
Chr17:80884287 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1923-11A>G single nucleotide variant not provided [RCV005171377] Chr17:82907750 [GRCh38]
Chr17:80865626 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.344T>C (p.Leu115Pro) single nucleotide variant not specified [RCV004889524] Chr17:82832111 [GRCh38]
Chr17:80789987 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.605C>T (p.Thr202Ile) single nucleotide variant not specified [RCV004889525] Chr17:82831850 [GRCh38]
Chr17:80789726 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1360C>T (p.Arg454Trp) single nucleotide variant not provided [RCV005054852] Chr17:82870265 [GRCh38]
Chr17:80828141 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1318+14G>T single nucleotide variant not provided [RCV005065518] Chr17:82814948 [GRCh38]
Chr17:80772824 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3565-19T>C single nucleotide variant not provided [RCV005145325] Chr17:82942430 [GRCh38]
Chr17:80900306 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1149G>C (p.Glu383Asp) single nucleotide variant not specified [RCV004889509] Chr17:82831306 [GRCh38]
Chr17:80789182 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2935C>T (p.Arg979Cys) single nucleotide variant not specified [RCV005088245] Chr17:82929444 [GRCh38]
Chr17:80887320 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2112A>G (p.Gln704=) single nucleotide variant not provided [RCV005086414] Chr17:82921511 [GRCh38]
Chr17:80879387 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3303C>T (p.Phe1101=) single nucleotide variant not provided [RCV005145978] Chr17:82938070 [GRCh38]
Chr17:80895946 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.435+19C>T single nucleotide variant not provided [RCV005173296] Chr17:82766387 [GRCh38]
Chr17:80724263 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1949G>A (p.Arg650Gln) single nucleotide variant not specified [RCV004889510] Chr17:82830365 [GRCh38]
Chr17:80788241 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.812C>A (p.Pro271His) single nucleotide variant not specified [RCV004889511] Chr17:82831643 [GRCh38]
Chr17:80789519 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1990C>G (p.Arg664Gly) single nucleotide variant not specified [RCV004889512] Chr17:82830324 [GRCh38]
Chr17:80788200 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.958G>A (p.Gly320Arg) single nucleotide variant not specified [RCV004889513] Chr17:82831497 [GRCh38]
Chr17:80789373 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1528G>A (p.Gly510Arg) single nucleotide variant not specified [RCV004889514] Chr17:82830786 [GRCh38]
Chr17:80788662 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1454G>T (p.Gly485Val) single nucleotide variant not specified [RCV004889515] Chr17:82830860 [GRCh38]
Chr17:80788736 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.324G>T (p.Arg108Ser) single nucleotide variant not specified [RCV004889516] Chr17:82832131 [GRCh38]
Chr17:80790007 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.377T>C (p.Leu126Pro) single nucleotide variant not specified [RCV004889517] Chr17:82832078 [GRCh38]
Chr17:80789954 [GRCh37]
Chr17:17q25.3		 likely benign
NM_024702.3(ZNF750):c.1456G>C (p.Asp486His) single nucleotide variant not specified [RCV004889518] Chr17:82830858 [GRCh38]
Chr17:80788734 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1460C>G (p.Pro487Arg) single nucleotide variant not specified [RCV004889519] Chr17:82830854 [GRCh38]
Chr17:80788730 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1843G>A (p.Gly615Ser) single nucleotide variant not specified [RCV004889520] Chr17:82830471 [GRCh38]
Chr17:80788347 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.245C>T (p.Thr82Met) single nucleotide variant not specified [RCV004889521] Chr17:82832210 [GRCh38]
Chr17:80790086 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.1084C>T (p.Pro362Ser) single nucleotide variant not specified [RCV004889522] Chr17:82831371 [GRCh38]
Chr17:80789247 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_024702.3(ZNF750):c.2019G>A (p.Met673Ile) single nucleotide variant not specified [RCV004889523] Chr17:82830295 [GRCh38]
Chr17:80788171 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2649A>G (p.Thr883=) single nucleotide variant not provided [RCV005120772] Chr17:82927944 [GRCh38]
Chr17:80885820 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2101+20A>G single nucleotide variant not provided [RCV005148931] Chr17:82920638 [GRCh38]
Chr17:80878514 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1072dup (p.Val358fs) duplication not provided [RCV005120827] Chr17:82805991..82805992 [GRCh38]
Chr17:80763867..80763868 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.817+20G>A single nucleotide variant not provided [RCV005117442] Chr17:82797822 [GRCh38]
Chr17:80755698 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1850T>G (p.Met617Arg) single nucleotide variant not provided [RCV005164930] Chr17:82905981 [GRCh38]
Chr17:80863857 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2844G>C (p.Leu948=) single nucleotide variant not provided [RCV005149358] Chr17:82929263 [GRCh38]
Chr17:80887139 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.573A>G (p.Gln191=) single nucleotide variant not provided [RCV005123062] Chr17:82768557 [GRCh38]
Chr17:80726433 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2131_2132del (p.Leu711fs) deletion not provided [RCV005117859] Chr17:82921529..82921530 [GRCh38]
Chr17:80879405..80879406 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.3552G>A (p.Gln1184=) single nucleotide variant not provided [RCV005156412] Chr17:82941471 [GRCh38]
Chr17:80899347 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1088-20T>C single nucleotide variant not provided [RCV005151525] Chr17:82807588 [GRCh38]
Chr17:80765464 [GRCh37]
Chr17:17q25.3		 likely benign
NC_000017.10:g.(80863930_80865636)_(80903791_?)dup duplication not specified [RCV005237149] Chr17:80865636..80903791 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.996C>T (p.Leu332=) single nucleotide variant not provided [RCV005122812] Chr17:82805920 [GRCh38]
Chr17:80763796 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1731-18T>G single nucleotide variant not provided [RCV005116303] Chr17:82903387 [GRCh38]
Chr17:80861263 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.358C>G (p.Arg120Gly) single nucleotide variant not provided [RCV005200365] Chr17:82766291 [GRCh38]
Chr17:80724167 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2247_2248delinsAA (p.Asp749_Pro750delinsGluThr) indel not provided [RCV005153070] Chr17:82923720..82923721 [GRCh38]
Chr17:80881596..80881597 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.185-12_185-11del microsatellite not provided [RCV005118438] Chr17:82756150..82756151 [GRCh38]
Chr17:80714026..80714027 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.516G>A (p.Gly172=) single nucleotide variant not provided [RCV005168280] Chr17:82768500 [GRCh38]
Chr17:80726376 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2178+17C>T single nucleotide variant not provided [RCV005083952] Chr17:82921594 [GRCh38]
Chr17:80879470 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2101+7G>A single nucleotide variant not provided [RCV005115547] Chr17:82920625 [GRCh38]
Chr17:80878501 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3370-9_3370-8del deletion not provided [RCV005137062] Chr17:82939358..82939359 [GRCh38]
Chr17:80897234..80897235 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2260+459G>A single nucleotide variant not provided [RCV005242687] Chr17:82924192 [GRCh38]
Chr17:80882068 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1757C>T (p.Ala586Val) single nucleotide variant not provided [RCV005201383] Chr17:82903431 [GRCh38]
Chr17:80861307 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1533+1G>A single nucleotide variant not provided [RCV005144880] Chr17:82884203 [GRCh38]
Chr17:80842079 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_024702.3(ZNF750):c.312C>T (p.His104=) single nucleotide variant not provided [RCV005244937] Chr17:82832143 [GRCh38]
Chr17:80790019 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.915G>A (p.Gly305=) single nucleotide variant not provided [RCV005107305] Chr17:82800961 [GRCh38]
Chr17:80758837 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-729C>G single nucleotide variant not provided [RCV005242764] Chr17:82780860 [GRCh38]
Chr17:80738736 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1069G>C (p.Gly357Arg) single nucleotide variant not provided [RCV005189569] Chr17:82805993 [GRCh38]
Chr17:80763869 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2664G>C (p.Arg888=) single nucleotide variant not provided [RCV005125044] Chr17:82927959 [GRCh38]
Chr17:80885835 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.417G>A (p.Gln139=) single nucleotide variant not provided [RCV005082392] Chr17:82766350 [GRCh38]
Chr17:80724226 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.16G>A (p.Glu6Lys) single nucleotide variant not provided [RCV005207479] Chr17:82752209 [GRCh38]
Chr17:80710085 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1425G>A (p.Ala475=) single nucleotide variant not provided [RCV005137908] Chr17:82870330 [GRCh38]
Chr17:80828206 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2261-19A>G single nucleotide variant not provided [RCV005139890] Chr17:82924920 [GRCh38]
Chr17:80882796 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.2857G>A (p.Asp953Asn) single nucleotide variant not provided [RCV005074737] Chr17:82929366 [GRCh38]
Chr17:80887242 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.1534-1G>A single nucleotide variant not provided [RCV005123708] Chr17:82889667 [GRCh38]
Chr17:80847543 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1818G>T (p.Leu606=) single nucleotide variant not provided [RCV005079696] Chr17:82905949 [GRCh38]
Chr17:80863825 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3578G>A (p.Ter1193=) single nucleotide variant not provided [RCV005079703] Chr17:82942462 [GRCh38]
Chr17:80900338 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.639-18G>A single nucleotide variant not provided [RCV005163334] Chr17:82781571 [GRCh38]
Chr17:80739447 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.3492T>C (p.Leu1164=) single nucleotide variant not provided [RCV005079850] Chr17:82941411 [GRCh38]
Chr17:80899287 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1618G>A (p.Gly540Ser) single nucleotide variant not provided [RCV005188136] Chr17:82893601 [GRCh38]
Chr17:80851477 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.2380-5T>C single nucleotide variant not provided [RCV005118727] Chr17:82926395 [GRCh38]
Chr17:80884271 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.138G>C (p.Val46=) single nucleotide variant not provided [RCV005123046] Chr17:82752331 [GRCh38]
Chr17:80710207 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1563+1G>A single nucleotide variant not provided [RCV005122830] Chr17:82889698 [GRCh38]
Chr17:80847574 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_005993.5(TBCD):c.1935C>T (p.Asp645=) single nucleotide variant not provided [RCV005111313] Chr17:82907773 [GRCh38]
Chr17:80865649 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.333+12A>G single nucleotide variant not provided [RCV005148902] Chr17:82764074 [GRCh38]
Chr17:80721950 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1603_1606del (p.Asp535fs) deletion not provided [RCV005130797] Chr17:82893584..82893587 [GRCh38]
Chr17:80851460..80851463 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_005993.5(TBCD):c.1274A>G (p.Glu425Gly) single nucleotide variant not provided [RCV005153593] Chr17:82814890 [GRCh38]
Chr17:80772766 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_005993.5(TBCD):c.3479+7G>A single nucleotide variant not provided [RCV005107437] Chr17:82939483 [GRCh38]
Chr17:80897359 [GRCh37]
Chr17:17q25.3		 likely benign
NM_005993.5(TBCD):c.1730+15T>G single nucleotide variant not provided [RCV005115394] Chr17:82900746 [GRCh38]
Chr17:80858622 [GRCh37]
Chr17:17q25.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:8035
Count of miRNA genes:1221
Interacting mature miRNAs:1588
Transcripts:ENST00000355528, ENST00000397466, ENST00000539345, ENST00000570679, ENST00000571316, ENST00000571618, ENST00000571712, ENST00000571796, ENST00000572389, ENST00000572794, ENST00000572953, ENST00000572984, ENST00000573364, ENST00000574422, ENST00000574801, ENST00000574818, ENST00000574886, ENST00000574975, ENST00000575132, ENST00000576160, ENST00000576432, ENST00000576603, ENST00000576677, ENST00000576691, ENST00000576760, ENST00000576996, ENST00000577051
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
597298810GWAS1394884_Htype 2 diabetes mellitus QTL GWAS1394884 (human)2e-09type 2 diabetes mellitus178278373682783737Human
406888289GWAS537265_Hspontaneous preterm birth QTL GWAS537265 (human)0.000001spontaneous preterm birth178291080882910809Human
596980049GWAS1099568_Hmemory performance QTL GWAS1099568 (human)0.000006memory performance178286062182860622Human
596988656GWAS1108175_HHbA1c measurement QTL GWAS1108175 (human)7e-18HbA1c measurement178283359382833594Human
406888229GWAS537205_Hhair color QTL GWAS537205 (human)8e-11hair color178293571282935713Human
597591416GWAS1648276_Hseborrheic keratosis QTL GWAS1648276 (human)1e-17seborrheic keratosis178279425682794257Human
597613812GWAS1670672_Hseborrheic keratosis QTL GWAS1670672 (human)3e-12seborrheic keratosis178279425682794257Human
597242354GWAS1338428_HHbA1c measurement QTL GWAS1338428 (human)1e-10HbA1c measurementblood hemoglobin A1c level (CMO:0002786)178282052482820525Human
597591253GWAS1648113_Hprotozoa infectious disease QTL GWAS1648113 (human)2e-11protozoa infectious disease178287009682870097Human
596963384GWAS1082903_Htype 2 diabetes mellitus QTL GWAS1082903 (human)2e-09type 2 diabetes mellitus178278373682783737Human
596981528GWAS1101047_Hcarbohydrate measurement QTL GWAS1101047 (human)1e-320carbohydrate measurement178282799982828000Human
597094297GWAS1190371_Hbone mineral accretion measurement, response to corticosteroid QTL GWAS1190371 (human)3e-08bone mineral accretion measurement, response to corticosteroidcalculated bone mineral content measurement (CMO:0001555)178294021282940213Human
597207368GWAS1303442_Hglucose-dependent insulinotropic peptide measurement QTL GWAS1303442 (human)3e-11blood gastric inhibitory polypeptide amount (VT:0010916)178284545582845456Human
597232777GWAS1328851_Hcoronary artery disease QTL GWAS1328851 (human)0.000003coronary artery disease178289661782896618Human
597241544GWAS1337618_Hurinary pH measurement QTL GWAS1337618 (human)6e-23urinary pH measurementurine pH (CMO:0000258)178278331882783319Human
597242090GWAS1338164_HHbA1c measurement QTL GWAS1338164 (human)2e-13HbA1c measurementblood hemoglobin A1c level (CMO:0002786)178277967582779676Human
597135620GWAS1231694_Hmemory performance QTL GWAS1231694 (human)0.000006memory performance178286062182860622Human
597193100GWAS1289174_Hcarbohydrate measurement QTL GWAS1289174 (human)1e-320carbohydrate measurement178282799982828000Human
597240398GWAS1336472_HHbA1c measurement QTL GWAS1336472 (human)4e-21HbA1c measurementblood hemoglobin A1c level (CMO:0002786)178282215482822155Human
597245550GWAS1341624_HHbA1c measurement QTL GWAS1341624 (human)3e-09HbA1c measurementblood hemoglobin A1c level (CMO:0002786)178288084782880848Human
597162030GWAS1258104_Hlipid measurement QTL GWAS1258104 (human)0.000002lipid measurementblood lipid measurement (CMO:0000050)178275382482753825Human
597290467GWAS1386541_HHbA1c measurement QTL GWAS1386541 (human)7e-18HbA1c measurementblood hemoglobin A1c level (CMO:0002786)178283359382833594Human
596966442GWAS1085961_Hbody height QTL GWAS1085961 (human)2e-14body height178288795182887952Human

Markers in Region
HSC0WH042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,337 - 80,900,577UniSTSGRCh37
Build 361778,493,626 - 78,493,866RGDNCBI36
Celera1777,495,916 - 77,496,156RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,302,725 - 76,302,965UniSTS
RH98714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,742,126 - 80,742,278UniSTSGRCh37
Build 361778,335,415 - 78,335,567RGDNCBI36
Celera1777,336,898 - 77,337,050RGD
Cytogenetic Map17q25.3UniSTS
GeneMap99-GB4 RH Map17541.38UniSTS
RH92242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,093 - 80,900,242UniSTSGRCh37
Build 361778,493,382 - 78,493,531RGDNCBI36
Celera1777,495,672 - 77,495,821RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,302,481 - 76,302,630UniSTS
GeneMap99-GB4 RH Map17536.52UniSTS
SHGC-58522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,887,789 - 80,887,888UniSTSGRCh37
Build 361778,481,078 - 78,481,177RGDNCBI36
Celera1777,482,645 - 77,482,744RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,289,975 - 76,290,074UniSTS
G43509  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,901 - 80,901,050UniSTSGRCh37
Build 361778,494,190 - 78,494,339RGDNCBI36
Celera1777,496,480 - 77,496,629RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,303,289 - 76,303,438UniSTS
G62613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,780,961 - 80,781,263UniSTSGRCh37
Build 361778,374,250 - 78,374,552RGDNCBI36
Celera1777,376,062 - 77,376,364RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,182,481 - 76,182,783UniSTS
TNG Radiation Hybrid Map1737729.0UniSTS
D17S1402E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,380 - 80,900,522UniSTSGRCh37
Build 361778,493,669 - 78,493,811RGDNCBI36
Celera1777,495,959 - 77,496,101RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,302,768 - 76,302,910UniSTS
G65508  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,715,647 - 80,715,862UniSTSGRCh37
Build 361778,308,936 - 78,309,151RGDNCBI36
Celera1777,310,440 - 77,310,655RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,115,186 - 76,115,401UniSTS
TNG Radiation Hybrid Map1737666.0UniSTS
SHGC-144868  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,742,023 - 80,742,302UniSTSGRCh37
Build 361778,335,312 - 78,335,591RGDNCBI36
Celera1777,336,795 - 77,337,074RGD
Cytogenetic Map17q25.3UniSTS
TNG Radiation Hybrid Map1737702.0UniSTS
SHGC-148757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,887,216 - 80,887,487UniSTSGRCh37
Build 361778,480,505 - 78,480,776RGDNCBI36
Celera1777,482,072 - 77,482,343RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,289,402 - 76,289,673UniSTS
TNG Radiation Hybrid Map265179.0UniSTS
SHGC-147546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,821,871 - 80,822,168UniSTSGRCh37
Build 361778,415,160 - 78,415,457RGDNCBI36
Celera1777,416,979 - 77,417,276RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,223,931 - 76,224,228UniSTS
TNG Radiation Hybrid Map1737749.0UniSTS
SHGC-147547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,822,308 - 80,822,644UniSTSGRCh37
Build 361778,415,597 - 78,415,933RGDNCBI36
Celera1777,417,416 - 77,417,752RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,224,368 - 76,224,704UniSTS
TNG Radiation Hybrid Map1737760.0UniSTS
RH10983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,436 - 80,900,576UniSTSGRCh37
Build 361778,493,725 - 78,493,865RGDNCBI36
Celera1777,496,015 - 77,496,155RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,302,824 - 76,302,964UniSTS
GeneMap99-GB4 RH Map17536.52UniSTS
NCBI RH Map17810.0UniSTS
RH11658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,900,337 - 80,900,476UniSTSGRCh37
Build 361778,493,626 - 78,493,765RGDNCBI36
Celera1777,495,916 - 77,496,055RGD
Cytogenetic Map17q25.3UniSTS
HuRef1776,302,725 - 76,302,864UniSTS
GeneMap99-GB4 RH Map17536.52UniSTS
NCBI RH Map17810.0UniSTS


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_011721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001411102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005256404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017024990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007087795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA421669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC127518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF052173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG254219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI464569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA390153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC071985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355528   ⟹   ENSP00000347719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,065 - 82,945,914 (+)Ensembl
Ensembl Acc Id: ENST00000539345   ⟹   ENSP00000440671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,158 - 82,942,709 (+)Ensembl
Ensembl Acc Id: ENST00000570679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,926,866 - 82,929,259 (+)Ensembl
Ensembl Acc Id: ENST00000571316   ⟹   ENSP00000458365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,884,152 - 82,914,153 (+)Ensembl
Ensembl Acc Id: ENST00000571618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,908,277 - 82,927,311 (+)Ensembl
Ensembl Acc Id: ENST00000571712   ⟹   ENSP00000459063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,858,596 - 82,921,576 (+)Ensembl
Ensembl Acc Id: ENST00000571796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,895,825 - 82,929,791 (+)Ensembl
Ensembl Acc Id: ENST00000572389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,939,042 - 82,942,704 (+)Ensembl
Ensembl Acc Id: ENST00000572794   ⟹   ENSP00000458916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,939,401 - 82,942,702 (+)Ensembl
Ensembl Acc Id: ENST00000572953   ⟹   ENSP00000458556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,893,108 - 82,921,575 (+)Ensembl
Ensembl Acc Id: ENST00000572984   ⟹   ENSP00000461167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,886,084 - 82,911,765 (+)Ensembl
Ensembl Acc Id: ENST00000573364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,932,687 - 82,937,847 (+)Ensembl
Ensembl Acc Id: ENST00000574422   ⟹   ENSP00000458599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,900,542 - 82,926,439 (+)Ensembl
Ensembl Acc Id: ENST00000574801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,864,291 - 82,911,789 (+)Ensembl
Ensembl Acc Id: ENST00000574818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,920,460 - 82,929,132 (+)Ensembl
Ensembl Acc Id: ENST00000574886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,920,192 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000574975   ⟹   ENSP00000461680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,893,064 - 82,925,056 (+)Ensembl
Ensembl Acc Id: ENST00000575132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,930,458 - 82,941,433 (+)Ensembl
Ensembl Acc Id: ENST00000576160   ⟹   ENSP00000458535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,858,519 - 82,921,510 (+)Ensembl
Ensembl Acc Id: ENST00000576432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,937,216 - 82,942,704 (+)Ensembl
Ensembl Acc Id: ENST00000576603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,931,949 - 82,942,571 (+)Ensembl
Ensembl Acc Id: ENST00000576677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,908,091 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000576691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,937,570 - 82,942,704 (+)Ensembl
Ensembl Acc Id: ENST00000576760   ⟹   ENSP00000460949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,884,801 - 82,926,476 (+)Ensembl
Ensembl Acc Id: ENST00000576996   ⟹   ENSP00000460450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,860,394 - 82,920,606 (+)Ensembl
Ensembl Acc Id: ENST00000577051   ⟹   ENSP00000458512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,929,138 - 82,942,659 (+)Ensembl
Ensembl Acc Id: ENST00000681983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,058 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,867,818 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,815,406 (+)Ensembl
Ensembl Acc Id: ENST00000682213   ⟹   ENSP00000508166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,902,393 - 82,909,307 (+)Ensembl
Ensembl Acc Id: ENST00000682315   ⟹   ENSP00000507232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,899,456 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682479   ⟹   ENSP00000508214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,042 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,805,258 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682654   ⟹   ENSP00000507412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,845,584 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682722   ⟹   ENSP00000508364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,048 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000682921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,906,468 (+)Ensembl
Ensembl Acc Id: ENST00000682934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,763,041 - 82,769,861 (+)Ensembl
Ensembl Acc Id: ENST00000683009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,906,557 (+)Ensembl
Ensembl Acc Id: ENST00000683041   ⟹   ENSP00000506994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683184   ⟹   ENSP00000507757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,062 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683282   ⟹   ENSP00000506913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,062 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683444   ⟹   ENSP00000507553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,068 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,866,985 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683821   ⟹   ENSP00000507651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,830,496 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,890,697 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000683883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,941,148 - 82,945,838 (+)Ensembl
Ensembl Acc Id: ENST00000684000   ⟹   ENSP00000506795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,194 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684188   ⟹   ENSP00000507153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,575 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684349   ⟹   ENSP00000508067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684361   ⟹   ENSP00000507364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,062 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684408   ⟹   ENSP00000506837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,064 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684429   ⟹   ENSP00000507224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,613 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684464   ⟹   ENSP00000508333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,051 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684544   ⟹   ENSP00000507337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,057 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,881,494 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684760   ⟹   ENSP00000507696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,074 - 82,945,900 (+)Ensembl
Ensembl Acc Id: ENST00000684776   ⟹   ENSP00000507861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1782,752,068 - 82,945,900 (+)Ensembl
RefSeq Acc Id: NM_001411101   ⟹   NP_001398030
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
RefSeq Acc Id: NM_001411102   ⟹   NP_001398031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
RefSeq Acc Id: NM_005993   ⟹   NP_005984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
GRCh371780,709,938 - 80,901,062 (+)NCBI
Build 361778,303,229 - 78,494,351 (+)NCBI Archive
HuRef1776,109,476 - 76,303,450 (+)ENTREZGENE
CHM1_11780,796,173 - 80,987,138 (+)NCBI
T2T-CHM13v2.01783,927,275 - 83,965,530 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005256399   ⟹   XP_005256456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,859,590 - 82,945,914 (+)NCBI
GRCh371780,709,938 - 80,901,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005256404   ⟹   XP_005256461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,875,585 - 82,945,914 (+)NCBI
GRCh371780,709,938 - 80,901,062 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722291   ⟹   XP_006722354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,853,937 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523589   ⟹   XP_011521891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,782,873 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523590   ⟹   XP_011521892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523591   ⟹   XP_011521893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,782,913 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523593   ⟹   XP_011521895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,795,542 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523594   ⟹   XP_011521896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,883,010 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523595   ⟹   XP_011521897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,883,010 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523597   ⟹   XP_011521899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,891,354 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523598   ⟹   XP_011521900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,893,113 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523599   ⟹   XP_011521901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,891,354 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523600   ⟹   XP_011521902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,884,789 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024987   ⟹   XP_016880476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,580 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024988   ⟹   XP_016880477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,919,452 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024989   ⟹   XP_016880478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,895,965 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017024990   ⟹   XP_016880479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,814,952 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450899   ⟹   XP_024306667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,860,367 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450900   ⟹   XP_024306668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,860,367 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450902   ⟹   XP_024306670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,858,582 - 82,945,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436615   ⟹   XP_047292571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436616   ⟹   XP_047292572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,755,247 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436617   ⟹   XP_047292573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,939,474 (+)NCBI
RefSeq Acc Id: XM_047436618   ⟹   XP_047292574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,782,045 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436619   ⟹   XP_047292575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436621   ⟹   XP_047292577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,883,010 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436622   ⟹   XP_047292578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,859,590 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436623   ⟹   XP_047292579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,925,042 (+)NCBI
RefSeq Acc Id: XM_047436624   ⟹   XP_047292580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,809,708 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436625   ⟹   XP_047292581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,883,010 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436626   ⟹   XP_047292582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,919,452 (+)NCBI
RefSeq Acc Id: XM_047436628   ⟹   XP_047292584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,859,590 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047436629   ⟹   XP_047292585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,875,585 - 82,945,914 (+)NCBI
RefSeq Acc Id: XM_047446781   ⟹   XP_047302737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,412 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446784   ⟹   XP_047302740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,578 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446785   ⟹   XP_047302741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,627,227 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446786   ⟹   XP_047302742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,657,506 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446787   ⟹   XP_047302743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,454 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446788   ⟹   XP_047302744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,656,678 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446789   ⟹   XP_047302745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,703 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446790   ⟹   XP_047302746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,670,282 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446791   ⟹   XP_047302747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,657,546 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446792   ⟹   XP_047302748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,758,064 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446793   ⟹   XP_047302749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,758,504 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446794   ⟹   XP_047302750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,734,679 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446795   ⟹   XP_047302751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,729,118 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446796   ⟹   XP_047302752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,758,408 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446797   ⟹   XP_047302753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,734,545 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446798   ⟹   XP_047302754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,454 - 83,800,201 (+)NCBI
RefSeq Acc Id: XM_047446799   ⟹   XP_047302755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,684,454 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446800   ⟹   XP_047302756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,758,502 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446801   ⟹   XP_047302757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,454 - 83,793,944 (+)NCBI
RefSeq Acc Id: XM_047446802   ⟹   XP_047302758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,766,015 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446803   ⟹   XP_047302759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,768,451 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446804   ⟹   XP_047302760
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,766,016 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446805   ⟹   XP_047302761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,532 - 83,793,944 (+)NCBI
RefSeq Acc Id: XM_047446806   ⟹   XP_047302762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,771,344 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446807   ⟹   XP_047302763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,734,543 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446808   ⟹   XP_047302764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,735,496 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446809   ⟹   XP_047302765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,739,360 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446810   ⟹   XP_047302766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,689,699 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_047446811   ⟹   XP_047302767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,750,755 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_054318126   ⟹   XP_054174101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,419 - 83,817,896 (+)NCBI
RefSeq Acc Id: XM_054318127   ⟹   XP_054174102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,427 - 83,817,896 (+)NCBI
RefSeq Acc Id: XR_007087795
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01783,626,454 - 83,814,664 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001398030 (Get FASTA)   NCBI Sequence Viewer  
  NP_001398031 (Get FASTA)   NCBI Sequence Viewer  
  NP_005984 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256456 (Get FASTA)   NCBI Sequence Viewer  
  XP_005256461 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722354 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521891 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521892 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521893 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521895 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521896 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521897 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521899 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521900 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521901 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521902 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880476 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880477 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880478 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880479 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306667 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306668 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306670 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292571 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292572 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292573 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292574 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292575 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292577 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292578 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292579 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292580 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292581 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292582 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292584 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292585 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302737 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302740 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302741 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302742 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302743 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302744 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302745 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302746 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302747 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302749 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302751 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302752 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302753 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302754 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302755 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302756 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302757 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302758 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302759 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302760 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302761 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302762 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302763 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302764 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302765 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302766 (Get FASTA)   NCBI Sequence Viewer  
  XP_047302767 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174102 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG22470 (Get FASTA)   NCBI Sequence Viewer  
  AAH03094 (Get FASTA)   NCBI Sequence Viewer  
  AAH06364 (Get FASTA)   NCBI Sequence Viewer  
  AAH12824 (Get FASTA)   NCBI Sequence Viewer  
  AAH39654 (Get FASTA)   NCBI Sequence Viewer  
  BAA76832 (Get FASTA)   NCBI Sequence Viewer  
  BAC03777 (Get FASTA)   NCBI Sequence Viewer  
  BAC85197 (Get FASTA)   NCBI Sequence Viewer  
  BAG56964 (Get FASTA)   NCBI Sequence Viewer  
  BAV92609 (Get FASTA)   NCBI Sequence Viewer  
  CAA07022 (Get FASTA)   NCBI Sequence Viewer  
  CAB62532 (Get FASTA)   NCBI Sequence Viewer  
  CAB63716 (Get FASTA)   NCBI Sequence Viewer  
  EAW89821 (Get FASTA)   NCBI Sequence Viewer  
  EAW89822 (Get FASTA)   NCBI Sequence Viewer  
  EAW89823 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347719
  ENSP00000347719.4
  ENSP00000440671
  ENSP00000506837
  ENSP00000506994
  ENSP00000507153
  ENSP00000507232
  ENSP00000507337
  ENSP00000507651
  ENSP00000508364
GenBank Protein Q9BTW9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005984   ⟸   NM_005993
- Peptide Label: isoform 1
- UniProtKB: Q9UG46 (UniProtKB/Swiss-Prot),   Q9UF82 (UniProtKB/Swiss-Prot),   Q96E74 (UniProtKB/Swiss-Prot),   Q8WYH4 (UniProtKB/Swiss-Prot),   Q8NAX0 (UniProtKB/Swiss-Prot),   Q8IXP6 (UniProtKB/Swiss-Prot),   Q7L8K1 (UniProtKB/Swiss-Prot),   O95458 (UniProtKB/Swiss-Prot),   Q9Y2J3 (UniProtKB/Swiss-Prot),   Q9BTW9 (UniProtKB/Swiss-Prot),   A0A804HHW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005256456   ⟸   XM_005256399
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_005256461   ⟸   XM_005256404
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722354   ⟸   XM_006722291
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011521892   ⟸   XM_011523590
- Peptide Label: isoform X5
- UniProtKB: A0A804HI02 (UniProtKB/TrEMBL),   A0A804HI57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521893   ⟸   XM_011523591
- Peptide Label: isoform X9
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521891   ⟸   XM_011523589
- Peptide Label: isoform X4
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521895   ⟸   XM_011523593
- Peptide Label: isoform X8
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521897   ⟸   XM_011523595
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_011521896   ⟸   XM_011523594
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011521902   ⟸   XM_011523600
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521901   ⟸   XM_011523599
- Peptide Label: isoform X22
- Sequence:
RefSeq Acc Id: XP_011521899   ⟸   XM_011523597
- Peptide Label: isoform X20
- Sequence:
RefSeq Acc Id: XP_011521900   ⟸   XM_011523598
- Peptide Label: isoform X21
- Sequence:
RefSeq Acc Id: XP_016880477   ⟸   XM_017024988
- Peptide Label: isoform X19
- UniProtKB: A0A804HIC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880476   ⟸   XM_017024987
- Peptide Label: isoform X2
- UniProtKB: A0A804HIN6 (UniProtKB/TrEMBL),   A0A804HIU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880479   ⟸   XM_017024990
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880478   ⟸   XM_017024989
- Peptide Label: isoform X24
- Sequence:
RefSeq Acc Id: XP_024306670   ⟸   XM_024450902
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306668   ⟸   XM_024450900
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306667   ⟸   XM_024450899
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000458365   ⟸   ENST00000571316
Ensembl Acc Id: ENSP00000459063   ⟸   ENST00000571712
Ensembl Acc Id: ENSP00000458556   ⟸   ENST00000572953
Ensembl Acc Id: ENSP00000461167   ⟸   ENST00000572984
Ensembl Acc Id: ENSP00000458916   ⟸   ENST00000572794
Ensembl Acc Id: ENSP00000461680   ⟸   ENST00000574975
Ensembl Acc Id: ENSP00000458599   ⟸   ENST00000574422
Ensembl Acc Id: ENSP00000458535   ⟸   ENST00000576160
Ensembl Acc Id: ENSP00000460450   ⟸   ENST00000576996
Ensembl Acc Id: ENSP00000460949   ⟸   ENST00000576760
Ensembl Acc Id: ENSP00000458512   ⟸   ENST00000577051
Ensembl Acc Id: ENSP00000440671   ⟸   ENST00000539345
Ensembl Acc Id: ENSP00000347719   ⟸   ENST00000355528
Ensembl Acc Id: ENSP00000507553   ⟸   ENST00000683444
Ensembl Acc Id: ENSP00000507651   ⟸   ENST00000683821
Ensembl Acc Id: ENSP00000508333   ⟸   ENST00000684464
Ensembl Acc Id: ENSP00000507412   ⟸   ENST00000682654
Ensembl Acc Id: ENSP00000507364   ⟸   ENST00000684361
Ensembl Acc Id: ENSP00000506994   ⟸   ENST00000683041
Ensembl Acc Id: ENSP00000507757   ⟸   ENST00000683184
Ensembl Acc Id: ENSP00000506913   ⟸   ENST00000683282
Ensembl Acc Id: ENSP00000508067   ⟸   ENST00000684349
Ensembl Acc Id: ENSP00000507232   ⟸   ENST00000682315
Ensembl Acc Id: ENSP00000506837   ⟸   ENST00000684408
Ensembl Acc Id: ENSP00000508166   ⟸   ENST00000682213
Ensembl Acc Id: ENSP00000507696   ⟸   ENST00000684760
Ensembl Acc Id: ENSP00000507337   ⟸   ENST00000684544
Ensembl Acc Id: ENSP00000507861   ⟸   ENST00000684776
Ensembl Acc Id: ENSP00000508364   ⟸   ENST00000682722
Ensembl Acc Id: ENSP00000508214   ⟸   ENST00000682479
Ensembl Acc Id: ENSP00000507153   ⟸   ENST00000684188
Ensembl Acc Id: ENSP00000506795   ⟸   ENST00000684000
Ensembl Acc Id: ENSP00000507224   ⟸   ENST00000684429
RefSeq Acc Id: XP_047292571   ⟸   XM_047436615
- Peptide Label: isoform X1
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292575   ⟸   XM_047436619
- Peptide Label: isoform X7
- UniProtKB: A0A804HI57 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292573   ⟸   XM_047436617
- Peptide Label: isoform X3
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292579   ⟸   XM_047436623
- Peptide Label: isoform X16
- UniProtKB: I6L959 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292582   ⟸   XM_047436626
- Peptide Label: isoform X23
- UniProtKB: A0A804HIC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292572   ⟸   XM_047436616
- Peptide Label: isoform X2
- UniProtKB: A0A804HIN6 (UniProtKB/TrEMBL),   A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292574   ⟸   XM_047436618
- Peptide Label: isoform X6
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292580   ⟸   XM_047436624
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047292578   ⟸   XM_047436622
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047292584   ⟸   XM_047436628
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047292585   ⟸   XM_047436629
- Peptide Label: isoform X26
- UniProtKB: A0A804HJU6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292577   ⟸   XM_047436621
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047292581   ⟸   XM_047436625
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047302737   ⟸   XM_047446781
- Peptide Label: isoform X27
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302743   ⟸   XM_047446787
- Peptide Label: isoform X5
- UniProtKB: A0A804HI57 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302754   ⟸   XM_047446798
- Peptide Label: isoform X16
- UniProtKB: I6L959 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302757   ⟸   XM_047446801
- Peptide Label: isoform X19
- UniProtKB: A0A804HIC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302761   ⟸   XM_047446805
- Peptide Label: isoform X23
- UniProtKB: A0A804HIC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302740   ⟸   XM_047446784
- Peptide Label: isoform X1
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302745   ⟸   XM_047446789
- Peptide Label: isoform X7
- UniProtKB: A0A804HI57 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302741   ⟸   XM_047446785
- Peptide Label: isoform X2
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302744   ⟸   XM_047446788
- Peptide Label: isoform X6
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302742   ⟸   XM_047446786
- Peptide Label: isoform X4
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302747   ⟸   XM_047446791
- Peptide Label: isoform X9
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302746   ⟸   XM_047446790
- Peptide Label: isoform X8
- UniProtKB: A0A804HIU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047302755   ⟸   XM_047446799
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047302766   ⟸   XM_047446810
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047302751   ⟸   XM_047446795
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047302763   ⟸   XM_047446807
- Peptide Label: isoform X25
RefSeq Acc Id: XP_047302753   ⟸   XM_047446797
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047302750   ⟸   XM_047446794
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047302764   ⟸   XM_047446808
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047302765   ⟸   XM_047446809
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047302767   ⟸   XM_047446811
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047302748   ⟸   XM_047446792
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047302752   ⟸   XM_047446796
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047302756   ⟸   XM_047446800
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047302749   ⟸   XM_047446793
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047302758   ⟸   XM_047446802
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047302760   ⟸   XM_047446804
- Peptide Label: isoform X22
RefSeq Acc Id: XP_047302759   ⟸   XM_047446803
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047302762   ⟸   XM_047446806
- Peptide Label: isoform X24
RefSeq Acc Id: NP_001398031   ⟸   NM_001411102
- Peptide Label: isoform 3
- UniProtKB: A0A804HJ32 (UniProtKB/TrEMBL),   A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001398030   ⟸   NM_001411101
- Peptide Label: isoform 2
- UniProtKB: A0A804HLI2 (UniProtKB/TrEMBL),   A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174101   ⟸   XM_054318126
- Peptide Label: isoform X27
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174102   ⟸   XM_054318127
- Peptide Label: isoform X27
- UniProtKB: A0A804HHW7 (UniProtKB/TrEMBL)
Protein Domains
Tubulin-specific chaperone D C-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BTW9-F1-model_v2 AlphaFold Q9BTW9 1-1192 view protein structure

Promoters
RGD ID:6794606
Promoter ID:HG_KWN:27453
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:ENST00000269368,   ENST00000336211,   ENST00000397466,   NM_005993,   UC002KFX.1,   UC002KFY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361778,302,536 - 78,303,287 (+)MPROMDB
RGD ID:6811366
Promoter ID:HG_ACW:37009
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:TBCD.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361778,410,554 - 78,411,054 (+)MPROMDB
RGD ID:6811367
Promoter ID:HG_ACW:37013
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TBCD.SAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361778,437,056 - 78,437,556 (+)MPROMDB
RGD ID:7236779
Promoter ID:EPDNEW_H24135
Type:initiation region
Name:TBCD_1
Description:tubulin folding cofactor D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24138  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,752,065 - 82,752,125EPDNEW
RGD ID:7236785
Promoter ID:EPDNEW_H24138
Type:initiation region
Name:TBCD_2
Description:tubulin folding cofactor D
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24135  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381782,929,464 - 82,929,524EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11581 AgrOrtholog
COSMIC TBCD COSMIC
Ensembl Genes ENSG00000141556 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355528 ENTREZGENE
  ENST00000355528.9 UniProtKB/Swiss-Prot
  ENST00000539345 ENTREZGENE
  ENST00000682315 ENTREZGENE
  ENST00000682610 ENTREZGENE
  ENST00000682722 ENTREZGENE
  ENST00000683041 ENTREZGENE
  ENST00000683821 ENTREZGENE
  ENST00000683839 ENTREZGENE
  ENST00000684188 ENTREZGENE
  ENST00000684408 ENTREZGENE
  ENST00000684544 ENTREZGENE
  ENST00000684559 ENTREZGENE
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000141556 GTEx
HGNC ID HGNC:11581 ENTREZGENE
Human Proteome Map TBCD Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
  TBCD UniProtKB/Swiss-Prot
  Tubulin_specific_chaperoneD_C UniProtKB/Swiss-Prot
KEGG Report hsa:6904 UniProtKB/Swiss-Prot
NCBI Gene 6904 ENTREZGENE
OMIM 604649 OMIM
PANTHER PTHR12658 UniProtKB/Swiss-Prot
  TUBULIN-SPECIFIC CHAPERONE D UniProtKB/Swiss-Prot
Pfam TFCD_C UniProtKB/Swiss-Prot
PharmGKB PA36345 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
UniProt A0A0J9YVR1_HUMAN UniProtKB/TrEMBL
  A0A0J9YVU1_HUMAN UniProtKB/TrEMBL
  A0A0J9YWI5_HUMAN UniProtKB/TrEMBL
  A0A0J9YXU4_HUMAN UniProtKB/TrEMBL
  A0A0J9YY08_HUMAN UniProtKB/TrEMBL
  A0A0J9YYG2_HUMAN UniProtKB/TrEMBL
  A0A1J1DRW2_HUMAN UniProtKB/TrEMBL
  A0A804HHW7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI02 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI57 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIC0 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIN6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIU1 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ32 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJ57_HUMAN UniProtKB/TrEMBL
  A0A804HJ99_HUMAN UniProtKB/TrEMBL
  A0A804HJL5_HUMAN UniProtKB/TrEMBL
  A0A804HJU6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJY5_HUMAN UniProtKB/TrEMBL
  A0A804HK36_HUMAN UniProtKB/TrEMBL
  A0A804HKB9_HUMAN UniProtKB/TrEMBL
  A0A804HKT8_HUMAN UniProtKB/TrEMBL
  A0A804HL21_HUMAN UniProtKB/TrEMBL
  A0A804HL62_HUMAN UniProtKB/TrEMBL
  A0A804HLF8_HUMAN UniProtKB/TrEMBL
  A0A804HLI2 ENTREZGENE, UniProtKB/TrEMBL
  I3L0V3_HUMAN UniProtKB/TrEMBL
  I3L120_HUMAN UniProtKB/TrEMBL
  I3L131_HUMAN UniProtKB/TrEMBL
  I3L143_HUMAN UniProtKB/TrEMBL
  I3L163_HUMAN UniProtKB/TrEMBL
  I3L1L0_HUMAN UniProtKB/TrEMBL
  I3L1S3_HUMAN UniProtKB/TrEMBL
  I3L3H4_HUMAN UniProtKB/TrEMBL
  I3L439_HUMAN UniProtKB/TrEMBL
  I3L4D2_HUMAN UniProtKB/TrEMBL
  I6L959 ENTREZGENE, UniProtKB/TrEMBL
  J3KR97_HUMAN UniProtKB/TrEMBL
  O95458 ENTREZGENE
  Q7L8K1 ENTREZGENE
  Q8IXP6 ENTREZGENE
  Q8NAX0 ENTREZGENE
  Q8WYH4 ENTREZGENE
  Q96E74 ENTREZGENE
  Q9BTW9 ENTREZGENE
  Q9UF82 ENTREZGENE
  Q9UG46 ENTREZGENE
  Q9Y2J3 ENTREZGENE
  TBCD_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O95458 UniProtKB/Swiss-Prot
  Q7L8K1 UniProtKB/Swiss-Prot
  Q8IXP6 UniProtKB/Swiss-Prot
  Q8NAX0 UniProtKB/Swiss-Prot
  Q8WYH4 UniProtKB/Swiss-Prot
  Q96E74 UniProtKB/Swiss-Prot
  Q9UF82 UniProtKB/Swiss-Prot
  Q9UG46 UniProtKB/Swiss-Prot
  Q9Y2J3 UniProtKB/Swiss-Prot