ACTG1 (actin gamma 1) - Rat Genome Database

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Gene: ACTG1 (actin gamma 1) Homo sapiens
Analyze
Symbol: ACTG1
Name: actin gamma 1
RGD ID: 1312061
HGNC Page HGNC:144
Description: Enables identical protein binding activity; profilin binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including protein localization to bicellular tight junction; regulation of stress fiber assembly; and regulation of transepithelial transport. Acts upstream of or within with a positive effect on angiogenesis. Located in actin filament; apical junction complex; and extracellular exosome. Implicated in Baraitser-Winter syndrome 2 and autosomal dominant nonsyndromic deafness 20.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACT; ACTG; actin, cytoplasmic 2; BRWS2; cytoskeletal gamma-actin; deafness, autosomal dominant 20; deafness, autosomal dominant 26; DFNA20; DFNA26; epididymis luminal protein 176; gamma-actin; HEL-176
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ACTBP14   ACTG1P1   ACTG1P10   ACTG1P11   ACTG1P12   ACTG1P13   ACTG1P14   ACTG1P15   ACTG1P16   ACTG1P17   ACTG1P18   ACTG1P19   ACTG1P2   ACTG1P20   ACTG1P21   ACTG1P22   ACTG1P23   ACTG1P25   ACTG1P3   ACTG1P4   ACTG1P6   ACTG1P7   ACTG1P8   ACTG1P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381781,509,971 - 81,512,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1781,509,413 - 81,523,847 (-)EnsemblGRCh38hg38GRCh38
GRCh371779,476,997 - 79,479,825 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,091,594 - 77,094,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 341777,091,593 - 77,094,422NCBI
Cytogenetic Map17q25.3NCBI
HuRef1774,925,813 - 74,928,708 (-)NCBIHuRef
CHM1_11779,563,278 - 79,566,173 (-)NCBICHM1_1
T2T-CHM13v2.01782,427,089 - 82,429,917 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3'-diindolylmethane  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
amphetamine  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-lapachone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
bufalin  (EXP)
buspirone  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cytochalasin D  (EXP)
D-glucose  (ISO)
DDE  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dihydroartemisinin  (EXP)
dioxygen  (ISO)
diuron  (EXP)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenoldopam  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (ISO)
GW 4064  (ISO)
ivermectin  (EXP)
jaspamide  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
mancozeb  (ISO)
metacetamol  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
microcystin-LR  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorododecanoic acid  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
Salinomycin  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (ISO)
yohimbine  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiovascular system morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aphasia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral cortical hemiatrophy  (IAGP)
Coarse facial features  (IAGP)
Coloboma  (IAGP)
Delayed cranial suture closure  (IAGP)
Depressed nasal tip  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duplication of thumb phalanx  (IAGP)
Echolalia  (IAGP)
Epicanthus  (IAGP)
Euryblepharon  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Full cheeks  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Heterochromia iridis  (IAGP)
Highly arched eyebrow  (IAGP)
Hydronephrosis  (IAGP)
Hydroureter  (IAGP)
Hypertelorism  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Joint stiffness  (IAGP)
Large fontanelles  (IAGP)
Lissencephaly  (IAGP)
Long nose  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Mutism  (IAGP)
Neurodevelopmental delay  (IAGP)
Optic disc coloboma  (IAGP)
Orofacial cleft  (IAGP)
Osteochondrosis  (IAGP)
Pachygyria  (IAGP)
Palpebral edema  (IAGP)
Pointed chin  (IAGP)
Polymicrogyria  (IAGP)
Progressive sensorineural hearing impairment  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nose  (IAGP)
Ptosis  (IAGP)
Retinoschisis  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Short columella  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Specific learning disability  (IAGP)
Subcortical cerebral atrophy  (IAGP)
Telecanthus  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Transient ischemic attack  (IAGP)
Trigonocephaly  (IAGP)
Ventriculomegaly  (IAGP)
Webbed neck  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
7. Review series: The cell biology of hearing. Schwander M, etal., J Cell Biol. 2010 Jul 12;190(1):9-20. doi: 10.1083/jcb.201001138.
Additional References at PubMed
PMID:1331119   PMID:1540415   PMID:1602151   PMID:1907279   PMID:1991513   PMID:2115775   PMID:2837653   PMID:3335520   PMID:3472224   PMID:3510866   PMID:3737401   PMID:6686106  
PMID:6865942   PMID:6893424   PMID:7820861   PMID:7849017   PMID:8228254   PMID:8399167   PMID:8416954   PMID:8612804   PMID:8617195   PMID:8630056   PMID:8661406   PMID:8761950  
PMID:8892894   PMID:8941379   PMID:8997639   PMID:9153421   PMID:9199338   PMID:9245787   PMID:9288906   PMID:9362513   PMID:9535896   PMID:9808630   PMID:9841925   PMID:9971772  
PMID:10049817   PMID:10074138   PMID:10556093   PMID:10662538   PMID:10713718   PMID:10772929   PMID:10781580   PMID:10848969   PMID:10903505   PMID:10925289   PMID:10958671   PMID:10970852  
PMID:11231575   PMID:11297527   PMID:11331876   PMID:11474115   PMID:11709093   PMID:11733011   PMID:11941484   PMID:12009869   PMID:12029070   PMID:12052877   PMID:12082080   PMID:12372613  
PMID:12388543   PMID:12470643   PMID:12477932   PMID:12481031   PMID:12519370   PMID:12577067   PMID:12605685   PMID:12612070   PMID:12665555   PMID:12665801   PMID:12679033   PMID:12835311  
PMID:12874605   PMID:13680526   PMID:14565974   PMID:14576350   PMID:14597672   PMID:14684684   PMID:14694110   PMID:14743216   PMID:14760703   PMID:15009185   PMID:15163409   PMID:15231748  
PMID:15489334   PMID:15618548   PMID:15746964   PMID:15759055   PMID:16101678   PMID:16130169   PMID:16169070   PMID:16179592   PMID:16189514   PMID:16236267   PMID:16263121   PMID:16289162  
PMID:16300736   PMID:16365169   PMID:16502470   PMID:16526095   PMID:16569662   PMID:16690605   PMID:16773128   PMID:16824795   PMID:16901892   PMID:17043677   PMID:17088428   PMID:17192268  
PMID:17220478   PMID:17285762   PMID:17360745   PMID:17361185   PMID:17411366   PMID:17504171   PMID:17573780   PMID:17643375   PMID:17693642   PMID:17722883   PMID:17914456   PMID:17955473  
PMID:18022941   PMID:18443296   PMID:18775311   PMID:18804074   PMID:19008859   PMID:19059912   PMID:19110265   PMID:19477959   PMID:19481056   PMID:19548389   PMID:19638415   PMID:19639585  
PMID:19710135   PMID:19883584   PMID:19895707   PMID:19946888   PMID:20147394   PMID:20301607   PMID:20381070   PMID:20391533   PMID:20458337   PMID:20473970   PMID:20618440   PMID:20706999  
PMID:20797700   PMID:20850016   PMID:20876399   PMID:20946988   PMID:21081503   PMID:21150319   PMID:21151833   PMID:21163940   PMID:21378166   PMID:21382349   PMID:21502360   PMID:21516116  
PMID:21557262   PMID:21630459   PMID:21653829   PMID:21753002   PMID:21800051   PMID:21873635   PMID:21900206   PMID:21908715   PMID:21917091   PMID:21923909   PMID:21988832   PMID:22004035  
PMID:22119785   PMID:22266860   PMID:22268729   PMID:22366783   PMID:22465675   PMID:22516433   PMID:22535526   PMID:22623428   PMID:22623803   PMID:22640593   PMID:22751105   PMID:22847007  
PMID:22855531   PMID:22863883   PMID:22915798   PMID:22989508   PMID:22990118   PMID:23017337   PMID:23071112   PMID:23160995   PMID:23246001   PMID:23260110   PMID:23277564   PMID:23294842  
PMID:23376485   PMID:23382103   PMID:23506231   PMID:23533145   PMID:23575248   PMID:23580065   PMID:23750785   PMID:23756437   PMID:23798571   PMID:23811015   PMID:23874603   PMID:23875777  
PMID:23979707   PMID:24189400   PMID:24239288   PMID:24284654   PMID:24457600   PMID:24639526   PMID:24711643   PMID:24742657   PMID:24762104   PMID:25241761   PMID:25324306   PMID:25416956  
PMID:25705373   PMID:25792668   PMID:25798074   PMID:25910212   PMID:25959826   PMID:25963833   PMID:26167880   PMID:26170170   PMID:26188271   PMID:26209609   PMID:26344197   PMID:26460568  
PMID:26465331   PMID:26496610   PMID:26527279   PMID:26583190   PMID:26643866   PMID:26754286   PMID:26816005   PMID:26832775   PMID:27096712   PMID:27107014   PMID:27197753   PMID:27240540  
PMID:27625340   PMID:27684187   PMID:27880917   PMID:28162770   PMID:28443643   PMID:28493397   PMID:28515276   PMID:28685749   PMID:28718761   PMID:28727228   PMID:28893863   PMID:28977666  
PMID:29141220   PMID:29150431   PMID:29298432   PMID:29357087   PMID:29509190   PMID:29620237   PMID:29845934   PMID:29892012   PMID:30009671   PMID:30209976   PMID:30277474   PMID:30280653  
PMID:30425250   PMID:30559450   PMID:30561431   PMID:30655611   PMID:30745168   PMID:30804502   PMID:30809309   PMID:30884312   PMID:30886144   PMID:30948266   PMID:31048545   PMID:31091453  
PMID:31180492   PMID:31239290   PMID:31267705   PMID:31324722   PMID:31353912   PMID:31515488   PMID:31527668   PMID:31792442   PMID:31862882   PMID:31871319   PMID:31980649   PMID:32028042  
PMID:32129710   PMID:32296183   PMID:32322062   PMID:32326615   PMID:32341388   PMID:32347575   PMID:32349449   PMID:32433965   PMID:32506774   PMID:32513696   PMID:32552912   PMID:32578367  
PMID:32588558   PMID:32640306   PMID:32694731   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32905556   PMID:32963011   PMID:33022573   PMID:33024031   PMID:33217970   PMID:33334799  
PMID:33536335   PMID:33545068   PMID:33545632   PMID:33567341   PMID:33644029   PMID:33729478   PMID:33948363   PMID:34079125   PMID:34189442   PMID:34329467   PMID:34349018   PMID:34440452  
PMID:34767732   PMID:34795231   PMID:34825085   PMID:34856725   PMID:34882091   PMID:35031058   PMID:35054877   PMID:35124280   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35338135  
PMID:35575683   PMID:35583604   PMID:35819319   PMID:35831314   PMID:35944360   PMID:35973989   PMID:35977942   PMID:36042349   PMID:36114006   PMID:36123327   PMID:36168627   PMID:36180891  
PMID:36215168   PMID:36273042   PMID:36282215   PMID:36373674   PMID:36411454   PMID:36424410   PMID:36537216   PMID:36574265   PMID:36811957   PMID:37059091   PMID:37071682   PMID:37120454  
PMID:37151849   PMID:37223481   PMID:37249651   PMID:37368839   PMID:37542027   PMID:38280479   PMID:38446501  


Genomics

Comparative Map Data
ACTG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381781,509,971 - 81,512,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1781,509,413 - 81,523,847 (-)EnsemblGRCh38hg38GRCh38
GRCh371779,476,997 - 79,479,825 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361777,091,594 - 77,094,422 (-)NCBINCBI36Build 36hg18NCBI36
Build 341777,091,593 - 77,094,422NCBI
Cytogenetic Map17q25.3NCBI
HuRef1774,925,813 - 74,928,708 (-)NCBIHuRef
CHM1_11779,563,278 - 79,566,173 (-)NCBICHM1_1
T2T-CHM13v2.01782,427,089 - 82,429,917 (-)NCBIT2T-CHM13v2.0
Actg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911120,236,513 - 120,239,321 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11120,236,516 - 120,239,368 (-)EnsemblGRCm39 Ensembl
GRCm3811120,345,687 - 120,348,495 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11120,345,690 - 120,348,542 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711120,207,004 - 120,209,798 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611120,161,780 - 120,171,339 (-)NCBIMGSCv36mm8
Celera11132,080,255 - 132,083,049 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1184.07NCBI
Actg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810106,118,106 - 106,120,951 (-)NCBIGRCr8
mRatBN7.210105,619,738 - 105,622,587 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl372,977,767 - 72,979,694 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl10105,619,737 - 105,624,232 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10110,724,157 - 110,726,999 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010110,187,175 - 110,190,017 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010105,540,227 - 105,543,072 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010109,518,429 - 109,521,288 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl375,643,054 - 75,644,954 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl10109,519,134 - 109,520,846 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010109,113,705 - 109,116,103 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410109,773,489 - 109,776,334 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110109,787,992 - 109,790,826 (-)NCBI
Celera10104,164,981 - 104,167,826 (-)NCBICelera
Cytogenetic Map10q32.3NCBI
Actg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555061,546,678 - 1,552,105 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555061,546,678 - 1,549,611 (+)NCBIChiLan1.0ChiLan1.0
ACTG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21998,096,764 - 98,099,674 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan117102,996,909 - 102,999,820 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01775,965,911 - 75,968,822 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11781,668,221 - 81,671,087 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1781,668,221 - 81,671,087 (-)Ensemblpanpan1.1panPan2
ACTG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.19635,978 - 638,328 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl9635,978 - 638,328 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha91,238,649 - 1,241,000 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.091,229,608 - 1,232,436 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl91,229,663 - 1,232,434 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.191,254,519 - 1,256,870 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.091,380,335 - 1,382,686 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.091,460,286 - 1,462,637 (+)NCBIUU_Cfam_GSD_1.0
Actg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056021,238,788 - 1,241,248 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365945,170,711 - 5,173,247 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365945,170,711 - 5,173,251 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACTG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl121,313,641 - 1,323,217 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1121,320,355 - 1,323,219 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2121,163,186 - 1,166,032 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACTG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11673,456,907 - 73,459,777 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607744,839,199 - 44,842,119 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Actg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480110,496,718 - 10,499,637 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480110,496,876 - 10,499,737 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACTG1
529 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) single nucleotide variant Baraitser-winter syndrome 2 [RCV001255976]|not provided [RCV000521309] Chr17:81511379 [GRCh38]
Chr17:79478405 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.1023C>T (p.Ile341=) single nucleotide variant not provided [RCV001572001] Chr17:81510795 [GRCh38]
Chr17:79477821 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=) single nucleotide variant ACTG1-related disorder [RCV004547748]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003767727]|not specified [RCV000602966] Chr17:81510732 [GRCh38]
Chr17:79477758 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) single nucleotide variant Baraitser-winter syndrome 2 [RCV000022422]|Congenital anomaly of kidney and urinary tract [RCV001849278]|Inborn genetic diseases [RCV003362663]|not provided [RCV000059726] Chr17:81511526 [GRCh38]
Chr17:79478552 [GRCh37]
Chr17:17q25.3		 pathogenic|not provided
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) single nucleotide variant Baraitser-winter syndrome 2 [RCV000022423]|See cases [RCV002251922]|not provided [RCV000059723] Chr17:81511907 [GRCh38]
Chr17:79478933 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|not provided
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002513166]|Baraitser-winter syndrome 2 [RCV000022424]|not provided [RCV000059725] Chr17:81511586 [GRCh38]
Chr17:79478612 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|not provided
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) single nucleotide variant Baraitser-winter syndrome 2 [RCV000022425]|not provided [RCV000059727] Chr17:81511382 [GRCh38]
Chr17:79478408 [GRCh37]
Chr17:17q25.3		 pathogenic|not provided
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001851994]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003137540]|Baraitser-winter syndrome 2 [RCV000022426]|Lissencephaly [RCV001291054]|not provided [RCV000059729] Chr17:81511230 [GRCh38]
Chr17:79478256 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|not provided
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000770804]|Baraitser-winter syndrome 2 [RCV000022427]|Lissencephaly [RCV001291159]|not provided [RCV000059730] Chr17:81511224 [GRCh38]
Chr17:79478250 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|not provided
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019980] Chr17:81512000 [GRCh38]
Chr17:79479026 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019981]|Nonsyndromic genetic hearing loss [RCV001568362]|not provided [RCV000680835] Chr17:81511913 [GRCh38]
Chr17:79478939 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019982]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003764612] Chr17:81510824 [GRCh38]
Chr17:79477850 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019983]|not provided [RCV000680834] Chr17:81511199 [GRCh38]
Chr17:79478225 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019984]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001851957] Chr17:81511078 [GRCh38]
Chr17:79478104 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019985] Chr17:81510709 [GRCh38]
Chr17:79477735 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019986]|not provided [RCV000059722] Chr17:81511912 [GRCh38]
Chr17:79478938 [GRCh37]
Chr17:17q25.3		 pathogenic|not provided
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000019987]|Hearing impairment [RCV001375049]|Rare genetic deafness [RCV000211710]|not provided [RCV000059728] Chr17:81511269 [GRCh38]
Chr17:79478295 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001518554]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253200]|Baraitser-winter syndrome 2 [RCV002253201]|not provided [RCV000991477]|not specified [RCV000037122] Chr17:81512089 [GRCh38]
Chr17:79479115 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+13C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001549230]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002054644]|Baraitser-winter syndrome 2 [RCV001549229]|not specified [RCV000037123] Chr17:81511890 [GRCh38]
Chr17:79478916 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) single nucleotide variant ACTG1-related disorder [RCV004549453]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000555623]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253202]|Baraitser-winter syndrome 2 [RCV002253203]|not provided [RCV002262601]|not specified [RCV000037124] Chr17:81511519 [GRCh38]
Chr17:79478545 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001086558]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253204]|Baraitser-winter syndrome 2 [RCV002253205]|not provided [RCV000680329]|not specified [RCV000037125] Chr17:81511459 [GRCh38]
Chr17:79478485 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001518482]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001549226]|Baraitser-winter syndrome 2 [RCV001549225]|not provided [RCV001811255]|not specified [RCV000037126] Chr17:81510993 [GRCh38]
Chr17:79478019 [GRCh37]
Chr17:17q25.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512198]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001549224]|Baraitser-winter syndrome 2 [RCV001549223]|not specified [RCV000037127] Chr17:81510981 [GRCh38]
Chr17:79478007 [GRCh37]
Chr17:17q25.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
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 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
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val) single nucleotide variant not provided [RCV000059724] Chr17:81511626 [GRCh38]
Chr17:79478652 [GRCh37]
Chr17:17q25.3		 not provided
NM_001614.5(ACTG1):c.847A>G (p.Met283Val) single nucleotide variant not provided [RCV000657994] Chr17:81511064 [GRCh38]
Chr17:79478090 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.520G>T (p.Ala174Ser) single nucleotide variant not provided [RCV000116226] Chr17:81511470 [GRCh38]
Chr17:79478496 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) single nucleotide variant Baraitser-winter syndrome 2 [RCV000116227] Chr17:81511392 [GRCh38]
Chr17:79478418 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512128]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253211]|Baraitser-winter syndrome 2 [RCV002253212]|not provided [RCV000710405]|not specified [RCV000116228] Chr17:81510804 [GRCh38]
Chr17:79477830 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512127]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253213]|Baraitser-winter syndrome 2 [RCV002253214]|not provided [RCV000710406]|not specified [RCV000116229] Chr17:81510792 [GRCh38]
Chr17:79477818 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512126]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253215]|Baraitser-winter syndrome 2 [RCV002253216]|not provided [RCV000710407]|not specified [RCV000116230] Chr17:81510690 [GRCh38]
Chr17:79477716 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512130]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253217]|Baraitser-winter syndrome 2 [RCV002253218]|not provided [RCV000991478]|not specified [RCV000116231] Chr17:81511591 [GRCh38]
Chr17:79478617 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) single nucleotide variant ACTG1-related disorder [RCV004549576]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001086238]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253219]|Baraitser-winter syndrome 2 [RCV002253220]|not provided [RCV000680320]|not specified [RCV000155031] Chr17:81511576 [GRCh38]
Chr17:79478602 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001512129]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253221]|Baraitser-winter syndrome 2 [RCV002253222]|not provided [RCV000991479]|not specified [RCV000116233] Chr17:81511261 [GRCh38]
Chr17:79478287 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.890C>T (p.Thr297Met) single nucleotide variant not provided [RCV002292964] Chr17:81511021 [GRCh38]
Chr17:79478047 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.535G>T (p.Asp179Tyr) single nucleotide variant Lissencephaly [RCV001291055] Chr17:81511455 [GRCh38]
Chr17:79478481 [GRCh37]
Chr17:17q25.3		 uncertain significance
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(chr17:81401966-83084062)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 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_001614.5(ACTG1):c.996C>A (p.Pro332=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002055953]|not provided [RCV000680341]|not specified [RCV000150132] Chr17:81510822 [GRCh38]
Chr17:79477848 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002055952]|not specified [RCV000150130] Chr17:81510708 [GRCh38]
Chr17:79477734 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro) single nucleotide variant not specified [RCV000150131] Chr17:81510767 [GRCh38]
Chr17:79477793 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003764903]|not provided [RCV000964796]|not specified [RCV000150133] Chr17:81510966 [GRCh38]
Chr17:79477992 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg) single nucleotide variant not specified [RCV000150135] Chr17:81511058 [GRCh38]
Chr17:79478084 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.636C>A (p.Ile212=) single nucleotide variant not specified [RCV000150136] Chr17:81511354 [GRCh38]
Chr17:79478380 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002514875]|not provided [RCV001704078]|not specified [RCV000150138] Chr17:81511492 [GRCh38]
Chr17:79478518 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003764904]|not specified [RCV000150139] Chr17:81511558 [GRCh38]
Chr17:79478584 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.333C>T (p.Asn111=) single nucleotide variant not specified [RCV000150140] Chr17:81511933 [GRCh38]
Chr17:79478959 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000878537]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253242]|Baraitser-winter syndrome 2 [RCV002253243]|not provided [RCV001719927]|not specified [RCV000150134] Chr17:81511002 [GRCh38]
Chr17:79478028 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002055954]|not provided [RCV000680700]|not specified [RCV000150137] Chr17:81511414 [GRCh38]
Chr17:79478440 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000875270]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253244]|Baraitser-winter syndrome 2 [RCV002253245]|not provided [RCV001668299]|not specified [RCV000150141] Chr17:81511951 [GRCh38]
Chr17:79478977 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002516014]|not specified [RCV000150142] Chr17:81512011 [GRCh38]
Chr17:79479037 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002516149]|not specified [RCV000156133] Chr17:81511083 [GRCh38]
Chr17:79478109 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000477934]|not specified [RCV000156217] Chr17:81511469 [GRCh38]
Chr17:79478495 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.124-14G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002055955]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253246]|Baraitser-winter syndrome 2 [RCV002253247]|not provided [RCV000680328]|not specified [RCV000150143] Chr17:81512156 [GRCh38]
Chr17:79479182 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.364-8C>T single nucleotide variant ACTG1-related disorder [RCV004551352]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001078859]|not provided [RCV000680335]|not specified [RCV000156921] Chr17:81511634 [GRCh38]
Chr17:79478660 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000873903]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253248]|Baraitser-winter syndrome 2 [RCV002253249]|not provided [RCV001812133]|not specified [RCV000155029] Chr17:81511306 [GRCh38]
Chr17:79478332 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001088235]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253250]|Baraitser-winter syndrome 2 [RCV002253251]|not provided [RCV000680356]|not specified [RCV000155030] Chr17:81511444 [GRCh38]
Chr17:79478470 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002056070]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253252]|Baraitser-winter syndrome 2 [RCV002253253]|not provided [RCV001651027]|not specified [RCV000155032] Chr17:81512107 [GRCh38]
Chr17:79479133 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002247591]|Inborn genetic diseases [RCV001267567]|not provided [RCV000178166] Chr17:81511448 [GRCh38]
Chr17:79478474 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002054247]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253279]|Baraitser-winter syndrome 2 [RCV002253280]|not specified [RCV000192841] Chr17:81512340 [GRCh38]
Chr17:79479366 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.519C>T (p.His173=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003765210]|not specified [RCV000193873] Chr17:81511471 [GRCh38]
Chr17:79478497 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001078774]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253281]|Baraitser-winter syndrome 2 [RCV002253282]|not provided [RCV000680344]|not specified [RCV000193902] Chr17:81511276 [GRCh38]
Chr17:79478302 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002054248]|not provided [RCV001657977]|not specified [RCV000194929] Chr17:81512274 [GRCh38]
Chr17:79479300 [GRCh37]
Chr17:17q25.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002069266]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253781]|Baraitser-winter syndrome 2 [RCV002253782]|Inborn genetic diseases [RCV004033451]|not provided [RCV001615139]|not specified [RCV001195181] Chr17:81512310 [GRCh38]
Chr17:79479336 [GRCh37]
Chr17:17q25.3		 benign|likely benign|uncertain significance
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002527566]|Baraitser-winter syndrome 2 [RCV001809466]|not provided [RCV000518896] Chr17:81511361 [GRCh38]
Chr17:79478387 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003765360]|not provided [RCV001540844]|not specified [RCV000221909] Chr17:81511600 [GRCh38]
Chr17:79478626 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-13C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002519600]|not specified [RCV000215375] Chr17:81511121 [GRCh38]
Chr17:79478147 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000877762]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253298]|Baraitser-winter syndrome 2 [RCV002253299]|not provided [RCV001712093]|not specified [RCV000217316] Chr17:81512283 [GRCh38]
Chr17:79479309 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000876469]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253296]|Baraitser-winter syndrome 2 [RCV002253297]|not provided [RCV001682930]|not specified [RCV000213239] Chr17:81512337 [GRCh38]
Chr17:79479363 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu) single nucleotide variant not specified [RCV000213364] Chr17:81511581 [GRCh38]
Chr17:79478607 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.267C>T (p.Thr89=) single nucleotide variant not provided [RCV001705191]|not specified [RCV000217614] Chr17:81511999 [GRCh38]
Chr17:79479025 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-3C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002253294]|Baraitser-winter syndrome 2 [RCV002253295]|not provided [RCV000680281]|not specified [RCV000217702] Chr17:81512363 [GRCh38]
Chr17:79479389 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003765387]|Inborn genetic diseases [RCV002517528]|not specified [RCV000220078] Chr17:81511613 [GRCh38]
Chr17:79478639 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003765361]|not specified [RCV000215670] Chr17:81512304 [GRCh38]
Chr17:79479330 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.124-8C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002054366]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253292]|Baraitser-winter syndrome 2 [RCV002253293]|not provided [RCV001668376]|not specified [RCV000214031] Chr17:81512150 [GRCh38]
Chr17:79479176 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.957C>T (p.Ala319=) single nucleotide variant not specified [RCV000222356] Chr17:81510954 [GRCh38]
Chr17:79477980 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*11C>T single nucleotide variant not specified [RCV000214140] Chr17:81510679 [GRCh38]
Chr17:79477705 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003765386]|not provided [RCV000991476]|not specified [RCV000216408] Chr17:81510782 [GRCh38]
Chr17:79477808 [GRCh37]
Chr17:17q25.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001078583]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253300]|Baraitser-winter syndrome 2 [RCV002253301]|not provided [RCV000873773]|not specified [RCV000221687] Chr17:81511216 [GRCh38]
Chr17:79478242 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002054939]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253302]|Baraitser-winter syndrome 2 [RCV002253303]|not provided [RCV000876855]|not specified [RCV000219404] Chr17:81510957 [GRCh38]
Chr17:79477983 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.259C>T (p.His87Tyr) single nucleotide variant Inborn genetic diseases [RCV002533125]|not provided [RCV000756961] Chr17:81512007 [GRCh38]
Chr17:79479033 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.150G>A (p.Lys50=) single nucleotide variant not specified [RCV000600397] Chr17:81512116 [GRCh38]
Chr17:79479142 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly) single nucleotide variant not provided [RCV000293975] Chr17:81511048 [GRCh38]
Chr17:79478074 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.803-6C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001082028]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253371]|Baraitser-winter syndrome 2 [RCV002253372]|not provided [RCV000680715]|not specified [RCV000345689] Chr17:81511114 [GRCh38]
Chr17:79478140 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.825C>T (p.His275=) single nucleotide variant ACTG1-related disorder [RCV004549614]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003765664]|not provided [RCV000680324]|not specified [RCV000281379] Chr17:81511086 [GRCh38]
Chr17:79478112 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.985-5T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000650172]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253366]|Baraitser-winter syndrome 2 [RCV002253367]|not provided [RCV001718580]|not specified [RCV000283217] Chr17:81510838 [GRCh38]
Chr17:79477864 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002059080]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253346]|Baraitser-winter syndrome 2 [RCV002253347]|not provided [RCV000681029]|not specified [RCV000354055] Chr17:81511297 [GRCh38]
Chr17:79478323 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.755A>T (p.Asn252Ile) single nucleotide variant not provided [RCV000390785] Chr17:81511235 [GRCh38]
Chr17:79478261 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.131T>A (p.Met44Lys) single nucleotide variant not provided [RCV000390797] Chr17:81512135 [GRCh38]
Chr17:79479161 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) single nucleotide variant ACTG1-related disorder [RCV004549610]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002059240]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253373]|Baraitser-winter syndrome 2 [RCV002253374]|not provided [RCV000874192]|not specified [RCV000296619] Chr17:81510801 [GRCh38]
Chr17:79477827 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.323C>T (p.Ala108Val) single nucleotide variant not provided [RCV000298957] Chr17:81511943 [GRCh38]
Chr17:79478969 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002059085]|not provided [RCV000298979] Chr17:81512035 [GRCh38]
Chr17:79479061 [GRCh37]
Chr17:17q25.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.803-3T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003766732]|not provided [RCV000487853] Chr17:81511111 [GRCh38]
Chr17:79478137 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.363+7C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001078984]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253514]|Baraitser-winter syndrome 2 [RCV002253515]|not provided [RCV000681125]|not specified [RCV000597907] Chr17:81511896 [GRCh38]
Chr17:79478922 [GRCh37]
Chr17:17q25.3		 benign|likely benign|uncertain significance
NM_001614.5(ACTG1):c.868C>T (p.Arg290Cys) single nucleotide variant not provided [RCV000523805] Chr17:81511043 [GRCh38]
Chr17:79478069 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.627G>A (p.Val209=) single nucleotide variant not provided [RCV000909256] Chr17:81511363 [GRCh38]
Chr17:79478389 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1086CGA[1] (p.Asp363del) microsatellite not provided [RCV002286916] Chr17:81510727..81510729 [GRCh38]
Chr17:79477753..79477755 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.-7+135C>T single nucleotide variant not specified [RCV000606620] Chr17:81512599 [GRCh38]
Chr17:79479625 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.393C>T (p.Ala131=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002064251]|not specified [RCV000600403] Chr17:81511597 [GRCh38]
Chr17:79478623 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000952118]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253518]|Baraitser-winter syndrome 2 [RCV002253519]|not provided [RCV001722546]|not specified [RCV000600884] Chr17:81511921 [GRCh38]
Chr17:79478947 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.802+3A>G single nucleotide variant not provided [RCV000730086] Chr17:81511185 [GRCh38]
Chr17:79478211 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.803-20G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002063982]|not specified [RCV000606762] Chr17:81511128 [GRCh38]
Chr17:79478154 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.228C>T (p.Val76=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001087735]|not provided [RCV000591445]|not specified [RCV001821729] Chr17:81512038 [GRCh38]
Chr17:79479064 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002061007]|not provided [RCV000732180] Chr17:81510723 [GRCh38]
Chr17:79477749 [GRCh37]
Chr17:17q25.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) single nucleotide variant Baraitser-winter syndrome 2 [RCV000415380] Chr17:81512237 [GRCh38]
Chr17:79479263 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.43G>C (p.Gly15Arg) single nucleotide variant not provided [RCV000413555] Chr17:81512312 [GRCh38]
Chr17:79479338 [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 17q25.1-25.3(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_001614.5(ACTG1):c.858C>T (p.Asp286=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003114542]|not provided [RCV000420629] Chr17:81511053 [GRCh38]
Chr17:79478079 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001082075]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253423]|Baraitser-winter syndrome 2 [RCV002253424]|not provided [RCV000420872]|not specified [RCV000825693] Chr17:81512140 [GRCh38]
Chr17:79479166 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.609G>A (p.Thr203=) single nucleotide variant ACTG1-related disorder [RCV004551437]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002524838]|not provided [RCV000420905] Chr17:81511381 [GRCh38]
Chr17:79478407 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-42G>A single nucleotide variant not provided [RCV000423861] Chr17:81512769 [GRCh38]
Chr17:79479795 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-27C>T single nucleotide variant not provided [RCV000423887] Chr17:81512754 [GRCh38]
Chr17:79479780 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) single nucleotide variant ACTG1-related disorder [RCV004551483]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001083834]|not provided [RCV000434403] Chr17:81512086 [GRCh38]
Chr17:79479112 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-43T>A single nucleotide variant not provided [RCV000441592] Chr17:81512770 [GRCh38]
Chr17:79479796 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln) single nucleotide variant not provided [RCV000444848] Chr17:81511353 [GRCh38]
Chr17:79478379 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.-6-14C>G single nucleotide variant not specified [RCV000427743] Chr17:81512374 [GRCh38]
Chr17:79479400 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-26G>A single nucleotide variant not provided [RCV000442030] Chr17:81512753 [GRCh38]
Chr17:79479779 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.174C>G (p.Ala58=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003114572]|not provided [RCV000438741] Chr17:81512092 [GRCh38]
Chr17:79479118 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) single nucleotide variant ACTG1-related disorder [RCV004551436]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001078888]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253419]|Baraitser-winter syndrome 2 [RCV002253420]|not provided [RCV000680321]|not specified [RCV000438762] Chr17:81511432 [GRCh38]
Chr17:79478458 [GRCh37]
Chr17:17q25.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002521699]|not provided [RCV000428771] Chr17:81510765 [GRCh38]
Chr17:79477791 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-10C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002063390]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253443]|Baraitser-winter syndrome 2 [RCV002253444]|not provided [RCV000432341] Chr17:81511636 [GRCh38]
Chr17:79478662 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.105C>T (p.Val35=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000873660]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253435]|Baraitser-winter syndrome 2 [RCV002253436]|not provided [RCV001703749] Chr17:81512250 [GRCh38]
Chr17:79479276 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) single nucleotide variant ACTG1-related disorder [RCV004551438]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002061617]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253421]|Baraitser-winter syndrome 2 [RCV002253422]|not provided [RCV001720018] Chr17:81511504 [GRCh38]
Chr17:79478530 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.165C>G (p.Gly55=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002059563]|not provided [RCV000435901] Chr17:81512101 [GRCh38]
Chr17:79479127 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) single nucleotide variant ACTG1-related disorder [RCV004551462]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001089251]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253440]|Baraitser-winter syndrome 2 [RCV002253441]|not provided [RCV000680346]|not specified [RCV000429267] Chr17:81512316 [GRCh38]
Chr17:79479342 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.-39C>T single nucleotide variant not specified [RCV000429273] Chr17:81512766 [GRCh38]
Chr17:79479792 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.123+8G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002521508]|not provided [RCV000429312]|not specified [RCV000610081] Chr17:81512224 [GRCh38]
Chr17:79479250 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.-28C>T single nucleotide variant not provided [RCV000419818] Chr17:81512755 [GRCh38]
Chr17:79479781 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*18G>A single nucleotide variant not specified [RCV000419842] Chr17:81510672 [GRCh38]
Chr17:79477698 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.534G>A (p.Leu178=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003766311]|not provided [RCV000429438] Chr17:81511456 [GRCh38]
Chr17:79478482 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.690C>T (p.Ala230=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002524839]|not provided [RCV000433122] Chr17:81511300 [GRCh38]
Chr17:79478326 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.124-16G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002061322]|not provided [RCV000433281] Chr17:81512158 [GRCh38]
Chr17:79479184 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.-48C>A single nucleotide variant not provided [RCV000429999] Chr17:81512775 [GRCh38]
Chr17:79479801 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.666C>T (p.Asp222=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002063354]|not provided [RCV000433339] Chr17:81511324 [GRCh38]
Chr17:79478350 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-20C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002522523]|not provided [RCV000444157] Chr17:81511646 [GRCh38]
Chr17:79478672 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-16A>G single nucleotide variant not provided [RCV000444160] Chr17:81512376 [GRCh38]
Chr17:79479402 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-7C>T single nucleotide variant not provided [RCV000423057] Chr17:81512367 [GRCh38]
Chr17:79479393 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-31G>C single nucleotide variant not provided [RCV000430221] Chr17:81512758 [GRCh38]
Chr17:79479784 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-24C>T single nucleotide variant not provided [RCV000440659] Chr17:81512751 [GRCh38]
Chr17:79479777 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-32C>T single nucleotide variant not specified [RCV000430364] Chr17:81512759 [GRCh38]
Chr17:79479785 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) single nucleotide variant ACTG1-related disorder [RCV004551453]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001088638]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253437]|Baraitser-winter syndrome 2 [RCV002253438]|not provided [RCV000433757] Chr17:81511255 [GRCh38]
Chr17:79478281 [GRCh37]
Chr17:17q25.3		 benign|likely benign
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
GRCh37/hg19 17q25.3(chr17:79371605-79482530)x1 copy number loss See cases [RCV000448207] Chr17:79371605..79482530 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.984+13dup duplication not provided [RCV000484088] Chr17:81510913..81510914 [GRCh38]
Chr17:79477939..79477940 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.95C>T (p.Pro32Leu) single nucleotide variant not provided [RCV000498713] Chr17:81512260 [GRCh38]
Chr17:79479286 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.324C>T (p.Ala108=) single nucleotide variant not provided [RCV003424052]|not specified [RCV000501223] Chr17:81511942 [GRCh38]
Chr17:79478968 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003766813]|Baraitser-winter syndrome 2 [RCV000501273] Chr17:81511560 [GRCh38]
Chr17:79478586 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.1039G>T (p.Ala347Ser) single nucleotide variant not specified [RCV000504019] Chr17:81510779 [GRCh38]
Chr17:79477805 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) single nucleotide variant ACTG1-related disorder [RCV004551624]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002060093]|Baraitser-winter syndrome 2 [RCV000502229]|not provided [RCV001704655]|not specified [RCV000603405] Chr17:81511336 [GRCh38]
Chr17:79478362 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.879G>A (p.Leu293=) single nucleotide variant not specified [RCV000500396] Chr17:81511032 [GRCh38]
Chr17:79478058 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-5dup duplication ACTG1-related disorder [RCV004551642]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000650173]|not provided [RCV001764505]|not specified [RCV000507016] Chr17:81510837..81510838 [GRCh38]
Chr17:79477866 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity
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
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
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) single nucleotide variant ACTG1-related disorder [RCV004547750]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000876318]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253526]|Baraitser-winter syndrome 2 [RCV002253527]|not provided [RCV002275090]|not specified [RCV000606842] Chr17:81512101 [GRCh38]
Chr17:79479127 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys) single nucleotide variant Inborn genetic diseases [RCV000624499] Chr17:81512060 [GRCh38]
Chr17:79479086 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.569T>C (p.Met190Thr) single nucleotide variant not provided [RCV003313591] Chr17:81511421 [GRCh38]
Chr17:79478447 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.924C>T (p.Gly308=) single nucleotide variant not provided [RCV001704767] Chr17:81510987 [GRCh38]
Chr17:79478013 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-1A>G single nucleotide variant not specified [RCV000603594] Chr17:81512355 [GRCh38]
Chr17:79479381 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.803-7C>T single nucleotide variant ACTG1-related disorder [RCV004553348]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000945596]|not specified [RCV000604956] Chr17:81511115 [GRCh38]
Chr17:79478141 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002062138]|not provided [RCV000681222]|not specified [RCV000600223] Chr17:81511294 [GRCh38]
Chr17:79478320 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) single nucleotide variant Baraitser-winter syndrome 2 [RCV001775138]|Inborn genetic diseases [RCV000622274]|Neurodevelopmental delay [RCV002274075] Chr17:81510814 [GRCh38]
Chr17:79477840 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001614.5(ACTG1):c.67G>A (p.Gly23Arg) single nucleotide variant Inborn genetic diseases [RCV000622751] Chr17:81512288 [GRCh38]
Chr17:79479314 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000540741] Chr17:81511533 [GRCh38]
Chr17:79478559 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002295307]|Baraitser-winter syndrome 2 [RCV002287431]|Rare genetic deafness [RCV000602707] Chr17:81511373 [GRCh38]
Chr17:79478399 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.360T>G (p.Thr120=) single nucleotide variant not specified [RCV000606734] Chr17:81511906 [GRCh38]
Chr17:79478932 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.618G>A (p.Arg206=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003767587]|not specified [RCV000607734] Chr17:81511372 [GRCh38]
Chr17:79478398 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-46C>T single nucleotide variant not specified [RCV000614970] Chr17:81512773 [GRCh38]
Chr17:79479799 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-11T>C single nucleotide variant not specified [RCV000612382] Chr17:81510844 [GRCh38]
Chr17:79477870 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.422_423insGACA (p.Leu142fs) insertion not provided [RCV000514486] Chr17:81511567..81511568 [GRCh38]
Chr17:79478593..79478594 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003767431]|not specified [RCV000612790] Chr17:81511348 [GRCh38]
Chr17:79478374 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) single nucleotide variant ACTG1-related disorder [RCV004553349]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002062145]|not provided [RCV001552311]|not specified [RCV000601987] Chr17:81512098 [GRCh38]
Chr17:79479124 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.558C>G (p.Thr186=) single nucleotide variant ACTG1-related disorder [RCV004553359]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003767523]|not specified [RCV000613212] Chr17:81511432 [GRCh38]
Chr17:79478458 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.963G>A (p.Ala321=) single nucleotide variant not specified [RCV000613253] Chr17:81510948 [GRCh38]
Chr17:79477974 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-19G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002066855]|not specified [RCV000616598] Chr17:81511645 [GRCh38]
Chr17:79478671 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000650169] Chr17:81510715 [GRCh38]
Chr17:79477741 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.803-4C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000650170]|Inborn genetic diseases [RCV002531951] Chr17:81511112 [GRCh38]
Chr17:79478138 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.802+10G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000650171] Chr17:81511178 [GRCh38]
Chr17:79478204 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.405C>T (p.Ala135=) single nucleotide variant not specified [RCV000616839] Chr17:81511585 [GRCh38]
Chr17:79478611 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-23G>A single nucleotide variant not specified [RCV000608253] Chr17:81512750 [GRCh38]
Chr17:79479776 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) single nucleotide variant ACTG1-related disorder [RCV004547747]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000878949]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253524]|Baraitser-winter syndrome 2 [RCV002253525]|not provided [RCV003420067]|not specified [RCV000608355] Chr17:81511210 [GRCh38]
Chr17:79478236 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.895C>T (p.Leu299=) single nucleotide variant not specified [RCV000608396] Chr17:81511016 [GRCh38]
Chr17:79478042 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-14C>T single nucleotide variant not specified [RCV000606389] Chr17:81512374 [GRCh38]
Chr17:79479400 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.124-17C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002064297]|not specified [RCV000611568] Chr17:81512159 [GRCh38]
Chr17:79479185 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-50C>T single nucleotide variant not specified [RCV000609266] Chr17:81512777 [GRCh38]
Chr17:79479803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-47A>G single nucleotide variant not specified [RCV000614759] Chr17:81512774 [GRCh38]
Chr17:79479800 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) single nucleotide variant not specified [RCV000614857] Chr17:81511442 [GRCh38]
Chr17:79478468 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000872562]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253530]|Baraitser-winter syndrome 2 [RCV002253531]|not provided [RCV003411459]|not specified [RCV000599804] Chr17:81510789 [GRCh38]
Chr17:79477815 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.767G>A (p.Arg256Gln) single nucleotide variant not provided [RCV000512829] Chr17:81511223 [GRCh38]
Chr17:79478249 [GRCh37]
Chr17:17q25.3		 pathogenic|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_001614.5(ACTG1):c.985-32T>C single nucleotide variant not provided [RCV000680710] Chr17:81510865 [GRCh38]
Chr17:79477891 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+123C>A single nucleotide variant not provided [RCV000680796] Chr17:81511780 [GRCh38]
Chr17:79478806 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002544701]|not provided [RCV000681070] Chr17:81511986 [GRCh38]
Chr17:79479012 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003768041]|not provided [RCV000681076] Chr17:81511039 [GRCh38]
Chr17:79478065 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1113C>T (p.His371=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001086055]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253563]|Baraitser-winter syndrome 2 [RCV002253564]|not provided [RCV000681170]|not specified [RCV000825028] Chr17:81510705 [GRCh38]
Chr17:79477731 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) single nucleotide variant ACTG1-related disorder [RCV004547850]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003768044]|not provided [RCV000681178] Chr17:81512058 [GRCh38]
Chr17:79479084 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002060866]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253565]|Baraitser-winter syndrome 2 [RCV002253566]|not provided [RCV000681283] Chr17:81512340 [GRCh38]
Chr17:79479366 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001861888]|not provided [RCV000681064] Chr17:81511253 [GRCh38]
Chr17:79478279 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.310C>T (p.Leu104=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003768045]|not provided [RCV000681276] Chr17:81511956 [GRCh38]
Chr17:79478982 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-5T>C single nucleotide variant not provided [RCV000681277] Chr17:81512359 [GRCh38]
Chr17:79479385 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.689C>T (p.Ala230Val) single nucleotide variant not provided [RCV000681155] Chr17:81511301 [GRCh38]
Chr17:79478327 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.802+20G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003117487]|not provided [RCV000681303] Chr17:81511168 [GRCh38]
Chr17:79478194 [GRCh37]
Chr17:17q25.3		 likely benign
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
NM_001614.5(ACTG1):c.985-40del deletion Autosomal dominant nonsyndromic hearing loss 20 [RCV001549222]|Baraitser-winter syndrome 2 [RCV001549221]|not provided [RCV000680686] Chr17:81510873 [GRCh38]
Chr17:79477899 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+59G>T single nucleotide variant not provided [RCV000680685] Chr17:81511844 [GRCh38]
Chr17:79478870 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.213T>G (p.Ile71Met) single nucleotide variant not provided [RCV000680689] Chr17:81512053 [GRCh38]
Chr17:79479079 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.802+33A>T single nucleotide variant not provided [RCV000680709] Chr17:81511155 [GRCh38]
Chr17:79478181 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.363+58G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001549228]|Baraitser-winter syndrome 2 [RCV001549227]|not provided [RCV000680684] Chr17:81511845 [GRCh38]
Chr17:79478871 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001334940]|not provided [RCV000680688] Chr17:81510815 [GRCh38]
Chr17:79477841 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys) single nucleotide variant not provided [RCV000680690] Chr17:81511989 [GRCh38]
Chr17:79479015 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001197433]|not provided [RCV000680687] Chr17:81510805 [GRCh38]
Chr17:79477831 [GRCh37]
Chr17:17q25.3		 uncertain significance
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
NM_001614.5(ACTG1):c.920C>T (p.Pro307Leu) single nucleotide variant not provided [RCV001730415] Chr17:81510991 [GRCh38]
Chr17:79478017 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.364-116C>G single nucleotide variant not provided [RCV001732604] Chr17:81511742 [GRCh38]
Chr17:79478768 [GRCh37]
Chr17:17q25.3		 likely benign
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
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
NM_001614.5(ACTG1):c.816C>T (p.Cys272=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002071958]|not provided [RCV001541262] Chr17:81511095 [GRCh38]
Chr17:79478121 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.903C>T (p.Gly301=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002540114] Chr17:81511008 [GRCh38]
Chr17:79478034 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-31C>G single nucleotide variant not provided [RCV001645901] Chr17:81512391 [GRCh38]
Chr17:79479417 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.492C>T (p.Pro164=) single nucleotide variant not provided [RCV001812491] Chr17:81511498 [GRCh38]
Chr17:79478524 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-113C>T single nucleotide variant not provided [RCV001725035] Chr17:81511739 [GRCh38]
Chr17:79478765 [GRCh37]
Chr17:17q25.3		 benign
NC_000017.11:g.81512884C>A single nucleotide variant not provided [RCV001547860] Chr17:81512884 [GRCh38]
Chr17:79479910 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000873651]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253653]|Baraitser-winter syndrome 2 [RCV002253654]|not provided [RCV001655628] Chr17:81511034 [GRCh38]
Chr17:79478060 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+127C>T single nucleotide variant not provided [RCV001571434] Chr17:81511776 [GRCh38]
Chr17:79478802 [GRCh37]
Chr17:17q25.3		 benign|likely benign
GRCh37/hg19 17q25.3(chr17:79375998-79505189)x3 copy number gain not provided [RCV000752223] Chr17:79375998..79505189 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79405504-79494851)x3 copy number gain not provided [RCV000752224] Chr17:79405504..79494851 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79408983-79503708)x3 copy number gain not provided [RCV000752225] Chr17:79408983..79503708 [GRCh37]
Chr17:17q25.3		 benign
GRCh37/hg19 17q25.3(chr17:79409852-79505189)x3 copy number gain not provided [RCV000752226] Chr17:79409852..79505189 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+72C>T single nucleotide variant not provided [RCV001570525] Chr17:81511831 [GRCh38]
Chr17:79478857 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*146A>G single nucleotide variant not provided [RCV001678699] Chr17:81510544 [GRCh38]
Chr17:79477570 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+31C>G single nucleotide variant not provided [RCV001666385] Chr17:81511872 [GRCh38]
Chr17:79478898 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.318C>T (p.Thr106=) single nucleotide variant ACTG1-related disorder [RCV004549994]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002539252] Chr17:81511948 [GRCh38]
Chr17:79478974 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) single nucleotide variant ACTG1-related disorder [RCV004549990]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000877122]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253659]|Baraitser-winter syndrome 2 [RCV002253660]|not provided [RCV001692313] Chr17:81510933 [GRCh38]
Chr17:79477959 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.222C>T (p.Gly74=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002066224] Chr17:81512044 [GRCh38]
Chr17:79479070 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000959751] Chr17:81511195 [GRCh38]
Chr17:79478221 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.802+8T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003768741] Chr17:81511180 [GRCh38]
Chr17:79478206 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+9C>T single nucleotide variant ACTG1-related disorder [RCV004553459]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002548316] Chr17:81511894 [GRCh38]
Chr17:79478920 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1104C>T (p.Ser368=) single nucleotide variant not provided [RCV000919966] Chr17:81510714 [GRCh38]
Chr17:79477740 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.22C>T (p.Leu8=) single nucleotide variant ACTG1-related disorder [RCV004551717]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002537530] Chr17:81512333 [GRCh38]
Chr17:79479359 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000877078]|not provided [RCV001568116] Chr17:81512056 [GRCh38]
Chr17:79479082 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.981C>T (p.Ile327=) single nucleotide variant not provided [RCV000879672] Chr17:81510930 [GRCh38]
Chr17:79477956 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) single nucleotide variant Baraitser-winter syndrome 2 [RCV000995479] Chr17:81511262 [GRCh38]
Chr17:79478288 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000995480]|Autosomal dominant nonsyndromic hearing loss 20 [RCV001858814]|not provided [RCV001570023] Chr17:81512261 [GRCh38]
Chr17:79479287 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001614.5(ACTG1):c.1041C>T (p.Ala347=) single nucleotide variant ACTG1-related disorder [RCV004549906]|not specified [RCV000825694] Chr17:81510777 [GRCh38]
Chr17:79477803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.526C>G (p.Leu176Val) single nucleotide variant not provided [RCV000782003] Chr17:81511464 [GRCh38]
Chr17:79478490 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.766C>A (p.Arg256=) single nucleotide variant not provided [RCV000925433] Chr17:81511224 [GRCh38]
Chr17:79478250 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+7C>T single nucleotide variant ACTG1-related disorder [RCV004549987]|Autosomal dominant nonsyndromic hearing loss 20 [RCV000876900]|Intellectual disability [RCV001251655]|not provided [RCV001570442] Chr17:81510920 [GRCh38]
Chr17:79477946 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+5G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002253655]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003103877]|Baraitser-winter syndrome 2 [RCV002253656]|not provided [RCV000874088] Chr17:81511898 [GRCh38]
Chr17:79478924 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002546030]|not provided [RCV000951652] Chr17:81510711 [GRCh38]
Chr17:79477737 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002066297] Chr17:81511429 [GRCh38]
Chr17:79478455 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002253657]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002539198]|Baraitser-winter syndrome 2 [RCV002253658]|not provided [RCV000875358] Chr17:81512289 [GRCh38]
Chr17:79479315 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.124-4G>C single nucleotide variant Intellectual disability [RCV001251656]|not provided [RCV001586089] Chr17:81512146 [GRCh38]
Chr17:79479172 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) single nucleotide variant Rare genetic deafness [RCV000826155] Chr17:81510816 [GRCh38]
Chr17:79477842 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000791808]|Baraitser-winter syndrome 2 [RCV003994118]|not provided [RCV000991480] Chr17:81511217 [GRCh38]
Chr17:79478243 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.165C>A (p.Gly55=) single nucleotide variant not provided [RCV000875916] Chr17:81512101 [GRCh38]
Chr17:79479127 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.318C>G (p.Thr106=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003768764]|not provided [RCV000893815] Chr17:81511948 [GRCh38]
Chr17:79478974 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn) single nucleotide variant not provided [RCV001091542] Chr17:81511912 [GRCh38]
Chr17:79478938 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln) single nucleotide variant Baraitser-winter syndrome 2 [RCV000850372] Chr17:81510818 [GRCh38]
Chr17:79477844 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3 copy number gain not provided [RCV000848418] Chr17:78608912..81041938 [GRCh37]
Chr17:17q25.3		 pathogenic
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
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002069265]|not provided [RCV001569524]|not specified [RCV001195180] Chr17:81511321 [GRCh38]
Chr17:79478347 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000990067]|Baraitser-Winter syndrome [RCV002068712] Chr17:81511382 [GRCh38]
Chr17:79478408 [GRCh37]
Chr17:17q25.3		 likely pathogenic|not provided
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002549941]|not provided [RCV000996623] Chr17:81511443 [GRCh38]
Chr17:79478469 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.378C>T (p.Thr126=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002579458]|not provided [RCV001580926] Chr17:81511612 [GRCh38]
Chr17:79478638 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+56C>T single nucleotide variant not provided [RCV001609214] Chr17:81511847 [GRCh38]
Chr17:79478873 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.761_781dup (p.Arg254_Ala260dup) duplication not provided [RCV001582240] Chr17:81511208..81511209 [GRCh38]
Chr17:79478234..79478235 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.124-9C>T single nucleotide variant ACTG1-related disorder [RCV004551900]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002568302]|not provided [RCV001548604] Chr17:81512151 [GRCh38]
Chr17:79479177 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001614.5(ACTG1):c.-7+37C>T single nucleotide variant not provided [RCV001548054] Chr17:81512697 [GRCh38]
Chr17:79479723 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*259C>T single nucleotide variant not provided [RCV001549865] Chr17:81510431 [GRCh38]
Chr17:79477457 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+115C>A single nucleotide variant not provided [RCV001598265] Chr17:81511788 [GRCh38]
Chr17:79478814 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*130G>A single nucleotide variant not provided [RCV001658896] Chr17:81510560 [GRCh38]
Chr17:79477586 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*194A>C single nucleotide variant not provided [RCV001576285] Chr17:81510496 [GRCh38]
Chr17:79477522 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-13C>T single nucleotide variant not provided [RCV001564773] Chr17:81512373 [GRCh38]
Chr17:79479399 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*32A>G single nucleotide variant not provided [RCV001640923] Chr17:81510658 [GRCh38]
Chr17:79477684 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*112C>T single nucleotide variant not provided [RCV001562473] Chr17:81510578 [GRCh38]
Chr17:79477604 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002072922]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002253901]|Baraitser-winter syndrome 2 [RCV002253902]|not provided [RCV001620304] Chr17:81511426 [GRCh38]
Chr17:79478452 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.*134C>T single nucleotide variant not provided [RCV001563082] Chr17:81510556 [GRCh38]
Chr17:79477582 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-83T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001549232]|Baraitser-winter syndrome 2 [RCV001549231]|not provided [RCV001713038] Chr17:81512443 [GRCh38]
Chr17:79479469 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.802+37C>T single nucleotide variant not provided [RCV001686050] Chr17:81511151 [GRCh38]
Chr17:79478177 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.985-38G>A single nucleotide variant not provided [RCV001618879] Chr17:81510871 [GRCh38]
Chr17:79477897 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001464855] Chr17:81511981 [GRCh38]
Chr17:79479007 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.861G>A (p.Val287=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002253681]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002537583]|Baraitser-winter syndrome 2 [RCV002253682]|not provided [RCV000905272] Chr17:81511050 [GRCh38]
Chr17:79478076 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.657C>T (p.Val219=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000954546] Chr17:81511333 [GRCh38]
Chr17:79478359 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV000953985] Chr17:81512065 [GRCh38]
Chr17:79479091 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.138C>T (p.Gly46=) single nucleotide variant ACTG1-related disorder [RCV004551909]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002568422]|not provided [RCV001563016] Chr17:81512128 [GRCh38]
Chr17:79479154 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*227C>T single nucleotide variant not provided [RCV001559001] Chr17:81510463 [GRCh38]
Chr17:79477489 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003771838]|not provided [RCV001682164] Chr17:81511041 [GRCh38]
Chr17:79478067 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.720C>T (p.Tyr240=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002072162]|not provided [RCV001565616] Chr17:81511270 [GRCh38]
Chr17:79478296 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*6C>G single nucleotide variant not provided [RCV001555458] Chr17:81510684 [GRCh38]
Chr17:79477710 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*2C>T single nucleotide variant not provided [RCV001689329] Chr17:81510688 [GRCh38]
Chr17:79477714 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.803-29C>T single nucleotide variant not provided [RCV001594328] Chr17:81511137 [GRCh38]
Chr17:79478163 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.802+22T>A single nucleotide variant not provided [RCV001717096] Chr17:81511166 [GRCh38]
Chr17:79478192 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.624C>T (p.Ile208=) single nucleotide variant ACTG1-related disorder [RCV004551938]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002072333]|not provided [RCV001580973] Chr17:81511366 [GRCh38]
Chr17:79478392 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-99C>T single nucleotide variant not provided [RCV001619419] Chr17:81511725 [GRCh38]
Chr17:79478751 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*192G>C single nucleotide variant not provided [RCV001678496] Chr17:81510498 [GRCh38]
Chr17:79477524 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*126C>G single nucleotide variant not provided [RCV001598277] Chr17:81510564 [GRCh38]
Chr17:79477590 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+111C>T single nucleotide variant not provided [RCV001587896] Chr17:81511792 [GRCh38]
Chr17:79478818 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.*284A>G single nucleotide variant not provided [RCV001686892] Chr17:81510406 [GRCh38]
Chr17:79477432 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*143G>C single nucleotide variant not provided [RCV001677132] Chr17:81510547 [GRCh38]
Chr17:79477573 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.*199A>T single nucleotide variant not provided [RCV001615431] Chr17:81510491 [GRCh38]
Chr17:79477517 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.351G>A (p.Glu117=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003771768]|not provided [RCV001583268] Chr17:81511915 [GRCh38]
Chr17:79478941 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.-6-26G>A single nucleotide variant not provided [RCV001648274] Chr17:81512386 [GRCh38]
Chr17:79479412 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-55G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002506741]|not provided [RCV001708825] Chr17:81512782 [GRCh38]
Chr17:79479808 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-7+151G>C single nucleotide variant not provided [RCV001681258] Chr17:81512583 [GRCh38]
Chr17:79479609 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-6-33C>T single nucleotide variant not provided [RCV001681109] Chr17:81512393 [GRCh38]
Chr17:79479419 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-6-31C>T single nucleotide variant not provided [RCV001671705] Chr17:81512391 [GRCh38]
Chr17:79479417 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.364-9C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003771835]|not provided [RCV001681320] Chr17:81511635 [GRCh38]
Chr17:79478661 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003771870]|not provided [RCV001725253] Chr17:81511289 [GRCh38]
Chr17:79478315 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.*128T>G single nucleotide variant not provided [RCV001692933] Chr17:81510562 [GRCh38]
Chr17:79477588 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) single nucleotide variant ACTG1-related disorder [RCV003117736]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003768985]|Baraitser-winter syndrome 2 [RCV001072139]|not provided [RCV001759854] Chr17:81511374 [GRCh38]
Chr17:79478400 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001256638] Chr17:81511497 [GRCh38]
Chr17:79478523 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys) single nucleotide variant Baraitser-winter syndrome 2 [RCV001330618]|Microcephaly [RCV001252691] Chr17:81511362 [GRCh38]
Chr17:79478388 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001614.5(ACTG1):c.695C>T (p.Ser232Phe) single nucleotide variant Inborn genetic diseases [RCV001266095] Chr17:81511295 [GRCh38]
Chr17:79478321 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) single nucleotide variant ACTG1-related disorder [RCV004550313]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003771660]|not provided [RCV001539691] Chr17:81511378 [GRCh38]
Chr17:79478404 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001614.5(ACTG1):c.854G>A (p.Cys285Tyr) single nucleotide variant Inborn genetic diseases [RCV001267599] Chr17:81511057 [GRCh38]
Chr17:79478083 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.50G>A (p.Cys17Tyr) single nucleotide variant Inborn genetic diseases [RCV001266534] Chr17:81512305 [GRCh38]
Chr17:79479331 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.831C>T (p.Thr277=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001396527] Chr17:81511080 [GRCh38]
Chr17:79478106 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) single nucleotide variant Baraitser-winter syndrome 2 [RCV001310277] Chr17:81511551 [GRCh38]
Chr17:79478577 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.485C>T (p.Thr162Met) single nucleotide variant Baraitser-winter syndrome 2 [RCV001330617] Chr17:81511505 [GRCh38]
Chr17:79478531 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.842C>G (p.Ser281Cys) single nucleotide variant Hearing impairment [RCV001375323]|not provided [RCV002511083] Chr17:81511069 [GRCh38]
Chr17:79478095 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.209C>T (p.Pro70Leu) single nucleotide variant Baraitser-winter syndrome 2 [RCV001375961] Chr17:81512057 [GRCh38]
Chr17:79479083 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.634A>G (p.Ile212Val) single nucleotide variant not provided [RCV001531873] Chr17:81511356 [GRCh38]
Chr17:79478382 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.11:g.81512817C>G single nucleotide variant not provided [RCV001527809] Chr17:81512817 [GRCh38]
Chr17:79479843 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+124C>T single nucleotide variant not provided [RCV001619513] Chr17:81511779 [GRCh38]
Chr17:79478805 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+60C>T single nucleotide variant not provided [RCV001645663] Chr17:81511843 [GRCh38]
Chr17:79478869 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.802+34C>A single nucleotide variant not provided [RCV001649528] Chr17:81511154 [GRCh38]
Chr17:79478180 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-7+36G>A single nucleotide variant not provided [RCV001617249] Chr17:81512698 [GRCh38]
Chr17:79479724 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.-6-37C>T single nucleotide variant not provided [RCV001682308] Chr17:81512397 [GRCh38]
Chr17:79479423 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.363+52C>T single nucleotide variant not provided [RCV001614348] Chr17:81511851 [GRCh38]
Chr17:79478877 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001398678] Chr17:81512138 [GRCh38]
Chr17:79479164 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1051A>G (p.Thr351Ala) single nucleotide variant not provided [RCV001756449] Chr17:81510767 [GRCh38]
Chr17:79477793 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.230C>G (p.Thr77Ser) single nucleotide variant not provided [RCV002251824] Chr17:81512036 [GRCh38]
Chr17:79479062 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002051951]|not provided [RCV001732635] Chr17:81511052 [GRCh38]
Chr17:79478078 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.718T>C (p.Tyr240His) single nucleotide variant not provided [RCV001754724] Chr17:81511272 [GRCh38]
Chr17:79478298 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002272976] Chr17:81511470 [GRCh38]
Chr17:79478496 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.670G>T (p.Glu224Ter) single nucleotide variant not provided [RCV001770712] Chr17:81511320 [GRCh38]
Chr17:79478346 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.-6-1G>T single nucleotide variant not provided [RCV001774620] Chr17:81512361 [GRCh38]
Chr17:79479387 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001868414]|not provided [RCV001763401] Chr17:81511465 [GRCh38]
Chr17:79478491 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.77C>T (p.Ala26Val) single nucleotide variant not provided [RCV001772433] Chr17:81512278 [GRCh38]
Chr17:79479304 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.805A>G (p.Met269Val) single nucleotide variant not provided [RCV001774355] Chr17:81511106 [GRCh38]
Chr17:79478132 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.913A>G (p.Met305Val) single nucleotide variant not provided [RCV001774678] Chr17:81510998 [GRCh38]
Chr17:79478024 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.193C>T (p.Leu65=) single nucleotide variant not provided [RCV001774753] Chr17:81512073 [GRCh38]
Chr17:79479099 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.940C>G (p.Gln314Glu) single nucleotide variant not provided [RCV001769128] Chr17:81510971 [GRCh38]
Chr17:79477997 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV001771459] Chr17:81510827 [GRCh38]
Chr17:79477853 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001799519] Chr17:81511550 [GRCh38]
Chr17:79478576 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002506849]|not specified [RCV001817510] Chr17:81511972 [GRCh38]
Chr17:79478998 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001799523] Chr17:81511085 [GRCh38]
Chr17:79478111 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.417G>C (p.Val139=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002544343]|not provided [RCV001797419] Chr17:81511573 [GRCh38]
Chr17:79478599 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.283C>T (p.Arg95Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001808898] Chr17:81511983 [GRCh38]
Chr17:79479009 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) single nucleotide variant Baraitser-winter syndrome 2 [RCV001809032] Chr17:81511531 [GRCh38]
Chr17:79478557 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.655G>A (p.Val219Ile) single nucleotide variant ACTG1-related disorder [RCV004552031]|Baraitser-winter syndrome 2 [RCV001809033] Chr17:81511335 [GRCh38]
Chr17:79478361 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001806229] Chr17:81511081 [GRCh38]
Chr17:79478107 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) microsatellite Autosomal dominant nonsyndromic hearing loss 20 [RCV003772344]|not provided [RCV001823419] Chr17:81511914..81511917 [GRCh38]
Chr17:79478940..79478943 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.395T>C (p.Met132Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001966354] Chr17:81511595 [GRCh38]
Chr17:79478621 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.433T>G (p.Ser145Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001968335] Chr17:81511557 [GRCh38]
Chr17:79478583 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002052085] Chr17:81511063 [GRCh38]
Chr17:79478089 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.936G>A (p.Arg312=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002542726]|not provided [RCV001823360] Chr17:81510975 [GRCh38]
Chr17:79478001 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.160G>A (p.Val54Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001985121] Chr17:81512106 [GRCh38]
Chr17:79479132 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.807G>A (p.Met269Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001945242] Chr17:81511104 [GRCh38]
Chr17:79478130 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.921G>A (p.Pro307=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001891754] Chr17:81510990 [GRCh38]
Chr17:79478016 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.445A>G (p.Thr149Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002037214]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003388615] Chr17:81511545 [GRCh38]
Chr17:79478571 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1013C>G (p.Ser338Trp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001995932] Chr17:81510805 [GRCh38]
Chr17:79477831 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.124-3C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001931353] Chr17:81512145 [GRCh38]
Chr17:79479171 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.260A>T (p.His87Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001884105] Chr17:81512006 [GRCh38]
Chr17:79479032 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.583G>A (p.Glu195Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002012564] Chr17:81511407 [GRCh38]
Chr17:79478433 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.456C>G (p.Val152=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001972466] Chr17:81511534 [GRCh38]
Chr17:79478560 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.389C>A (p.Pro130Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002015037] Chr17:81511601 [GRCh38]
Chr17:79478627 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV001915748] Chr17:81511564 [GRCh38]
Chr17:79478590 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.704_706del (p.Ser235del) deletion Autosomal dominant nonsyndromic hearing loss 20 [RCV001898615] Chr17:81511284..81511286 [GRCh38]
Chr17:79478310..79478312 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002085061] Chr17:81510765 [GRCh38]
Chr17:79477791 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.447T>C (p.Thr149=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002105220] Chr17:81511543 [GRCh38]
Chr17:79478569 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.87C>T (p.Ala29=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002130451] Chr17:81512268 [GRCh38]
Chr17:79479294 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1008G>A (p.Lys336=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002111245] Chr17:81510810 [GRCh38]
Chr17:79477836 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002248961] Chr17:81511556 [GRCh38]
Chr17:79478582 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002190644] Chr17:81510717 [GRCh38]
Chr17:79477743 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002191135] Chr17:81510696 [GRCh38]
Chr17:79477722 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+17G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002108741] Chr17:81511886 [GRCh38]
Chr17:79478912 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002168267]|not provided [RCV003312039] Chr17:81511023 [GRCh38]
Chr17:79478049 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.981C>A (p.Ile327=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002079201] Chr17:81510930 [GRCh38]
Chr17:79477956 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+20C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002133844] Chr17:81511883 [GRCh38]
Chr17:79478909 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1110C>T (p.Val370=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002216177] Chr17:81510708 [GRCh38]
Chr17:79477734 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-20G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002114887] Chr17:81510853 [GRCh38]
Chr17:79477879 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-13T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002212551] Chr17:81511639 [GRCh38]
Chr17:79478665 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.429C>T (p.Tyr143=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003774675]|Inborn genetic diseases [RCV004047228]|not provided [RCV002226055] Chr17:81511561 [GRCh38]
Chr17:79478587 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-5C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002171409] Chr17:81511113 [GRCh38]
Chr17:79478139 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+11G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002094952] Chr17:81511892 [GRCh38]
Chr17:79478918 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.687C>T (p.Thr229=) single nucleotide variant ACTG1-related disorder [RCV004553665]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002189518] Chr17:81511303 [GRCh38]
Chr17:79478329 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.824A>T (p.His275Leu) single nucleotide variant not provided [RCV002251631] Chr17:81511087 [GRCh38]
Chr17:79478113 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.363+20C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002159522] Chr17:81511883 [GRCh38]
Chr17:79478909 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.585G>A (p.Glu195=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002082033] Chr17:81511405 [GRCh38]
Chr17:79478431 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.387C>A (p.Thr129=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002098223] Chr17:81511603 [GRCh38]
Chr17:79478629 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.510C>T (p.Ala170=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002156273] Chr17:81511480 [GRCh38]
Chr17:79478506 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002138331] Chr17:81510762 [GRCh38]
Chr17:79477788 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-20G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002160482] Chr17:81511128 [GRCh38]
Chr17:79478154 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.553C>T (p.Leu185=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003112647] Chr17:81511437 [GRCh38]
Chr17:79478463 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.933C>T (p.Asp311=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003115131] Chr17:81510978 [GRCh38]
Chr17:79478004 [GRCh37]
Chr17:17q25.3		 likely benign
NC_000017.10:g.(?_79477716)_(80900339_?)dup duplication not provided [RCV003122586] Chr17:79477716..80900339 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_79477716)_(79504106_?)dup duplication not provided [RCV003122428] Chr17:79477716..79504106 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003153043]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003778914] Chr17:81512115 [GRCh38]
Chr17:79479141 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr) single nucleotide variant not provided [RCV002244432] Chr17:81511496 [GRCh38]
Chr17:79478522 [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_001614.5(ACTG1):c.58_62delinsAACCAA (p.Gly20fs) indel not provided [RCV002291358] Chr17:81512293..81512297 [GRCh38]
Chr17:79479319..79479323 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.914T>C (p.Met305Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002283966] Chr17:81510997 [GRCh38]
Chr17:79478023 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002294585]|not provided [RCV003234176] Chr17:81512069 [GRCh38]
Chr17:79479095 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.237G>A (p.Trp79Ter) single nucleotide variant not provided [RCV002269789] Chr17:81512029 [GRCh38]
Chr17:79479055 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.124G>A (p.Gly42Ser) single nucleotide variant Baraitser-winter syndrome 2 [RCV002288396] Chr17:81512142 [GRCh38]
Chr17:79479168 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.166G>A (p.Asp56Asn) single nucleotide variant Baraitser-winter syndrome 2 [RCV002289489] Chr17:81512100 [GRCh38]
Chr17:79479126 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.136G>T (p.Gly46Cys) single nucleotide variant not provided [RCV002265521] Chr17:81512130 [GRCh38]
Chr17:79479156 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.828G>C (p.Glu276Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002297468] Chr17:81511083 [GRCh38]
Chr17:79478109 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.327C>T (p.Pro109=) single nucleotide variant not provided [RCV002283248] Chr17:81511939 [GRCh38]
Chr17:79478965 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.424C>G (p.Leu142Val) single nucleotide variant not provided [RCV002474077] Chr17:81511566 [GRCh38]
Chr17:79478592 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.489G>C (p.Val163=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002991416] Chr17:81511501 [GRCh38]
Chr17:79478527 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.946G>A (p.Glu316Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV004584288] Chr17:81510965 [GRCh38]
Chr17:79477991 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.941A>G (p.Gln314Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002301762] Chr17:81510970 [GRCh38]
Chr17:79477996 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.484A>G (p.Thr162Ala) single nucleotide variant Baraitser-winter syndrome 2 [RCV002306453] Chr17:81511506 [GRCh38]
Chr17:79478532 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.985-25_985-10dup duplication Autosomal dominant nonsyndromic hearing loss 20 [RCV002971886] Chr17:81510842..81510843 [GRCh38]
Chr17:79477868..79477869 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.434C>G (p.Ser145Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003074988] Chr17:81511556 [GRCh38]
Chr17:79478582 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.364-3C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002880551] Chr17:81511629 [GRCh38]
Chr17:79478655 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.240C>T (p.Asp80=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002971951] Chr17:81512026 [GRCh38]
Chr17:79479052 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.420G>A (p.Leu140=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002909011] Chr17:81511570 [GRCh38]
Chr17:79478596 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002819056] Chr17:81511559 [GRCh38]
Chr17:79478585 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.483C>T (p.His161=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002975492] Chr17:81511507 [GRCh38]
Chr17:79478533 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.675G>A (p.Gln225=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002838296] Chr17:81511315 [GRCh38]
Chr17:79478341 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.660C>T (p.Ala220=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002967729] Chr17:81511330 [GRCh38]
Chr17:79478356 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.339G>A (p.Lys113=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003074235] Chr17:81511927 [GRCh38]
Chr17:79478953 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.702T>C (p.Ser234=) single nucleotide variant not provided [RCV002511886] Chr17:81511288 [GRCh38]
Chr17:79478314 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+7C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002991501] Chr17:81510920 [GRCh38]
Chr17:79477946 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.192C>A (p.Ile64=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002569413]|not provided [RCV002508473] Chr17:81512074 [GRCh38]
Chr17:79479100 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.364-16C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002685446] Chr17:81511642 [GRCh38]
Chr17:79478668 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.742A>G (p.Ile248Val) single nucleotide variant not provided [RCV002462532] Chr17:81511248 [GRCh38]
Chr17:79478274 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.525C>A (p.Ile175=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002947147] Chr17:81511465 [GRCh38]
Chr17:79478491 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.909C>A (p.Thr303=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002913119] Chr17:81511002 [GRCh38]
Chr17:79478028 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.195G>A (p.Leu65=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002622108] Chr17:81512071 [GRCh38]
Chr17:79479097 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003003092] Chr17:81511641 [GRCh38]
Chr17:79478667 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.86C>T (p.Ala29Val) single nucleotide variant Inborn genetic diseases [RCV002707751] Chr17:81512269 [GRCh38]
Chr17:79479295 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1064T>G (p.Met355Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002825498] Chr17:81510754 [GRCh38]
Chr17:79477780 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.414C>A (p.Ala138=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002885719] Chr17:81511576 [GRCh38]
Chr17:79478602 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.123+18C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002912853] Chr17:81512214 [GRCh38]
Chr17:79479240 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.124-6C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003017777]|Inborn genetic diseases [RCV003017776] Chr17:81512148 [GRCh38]
Chr17:79479174 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001614.5(ACTG1):c.898T>G (p.Ser300Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002825242] Chr17:81511013 [GRCh38]
Chr17:79478039 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.990C>T (p.Ile330=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002949590] Chr17:81510828 [GRCh38]
Chr17:79477854 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.123+15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002637313] Chr17:81512217 [GRCh38]
Chr17:79479243 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.900G>A (p.Ser300=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002912538] Chr17:81511011 [GRCh38]
Chr17:79478037 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.943A>G (p.Lys315Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003018978] Chr17:81510968 [GRCh38]
Chr17:79477994 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.243C>T (p.Asp81=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002621945] Chr17:81512023 [GRCh38]
Chr17:79479049 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.882C>T (p.Tyr294=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002706744] Chr17:81511029 [GRCh38]
Chr17:79478055 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002825106] Chr17:81512078 [GRCh38]
Chr17:79479104 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.359C>G (p.Thr120Ser) single nucleotide variant not provided [RCV003036963] Chr17:81511907 [GRCh38]
Chr17:79478933 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg) single nucleotide variant ACTG1-related disorder [RCV004548306]|not provided [RCV002510045] Chr17:81510820 [GRCh38]
Chr17:79477846 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002890225] Chr17:81511298 [GRCh38]
Chr17:79478324 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1050C>T (p.Ser350=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002627163] Chr17:81510768 [GRCh38]
Chr17:79477794 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.376A>G (p.Thr126Ala) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003043305] Chr17:81511614 [GRCh38]
Chr17:79478640 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.414C>G (p.Ala138=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002700598] Chr17:81511576 [GRCh38]
Chr17:79478602 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.276C>T (p.Asn92=) single nucleotide variant ACTG1-related disorder [RCV004548356]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002740607] Chr17:81511990 [GRCh38]
Chr17:79479016 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-18del deletion Autosomal dominant nonsyndromic hearing loss 20 [RCV002829883] Chr17:81511126 [GRCh38]
Chr17:79478152 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.219T>C (p.His73=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003082217] Chr17:81512047 [GRCh38]
Chr17:79479073 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.658G>A (p.Ala220Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002624225]|Inborn genetic diseases [RCV003349060] Chr17:81511332 [GRCh38]
Chr17:79478358 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002890438]|not provided [RCV004584982] Chr17:81510782 [GRCh38]
Chr17:79477808 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.234C>T (p.Asn78=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002890937]|not provided [RCV003418627] Chr17:81512032 [GRCh38]
Chr17:79479058 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.689C>A (p.Ala230Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002624318] Chr17:81511301 [GRCh38]
Chr17:79478327 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.852G>A (p.Lys284=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002890706] Chr17:81511059 [GRCh38]
Chr17:79478085 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.824A>G (p.His275Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002509007] Chr17:81511087 [GRCh38]
Chr17:79478113 [GRCh37]
Chr17:17q25.3		 not provided
NM_001614.5(ACTG1):c.1044A>T (p.Ser348=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002922576] Chr17:81510774 [GRCh38]
Chr17:79477800 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+12G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003091965] Chr17:81510915 [GRCh38]
Chr17:79477941 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.817G>A (p.Gly273Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003031139] Chr17:81511094 [GRCh38]
Chr17:79478120 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.813T>C (p.Ser271=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002601795] Chr17:81511098 [GRCh38]
Chr17:79478124 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.153C>T (p.Asp51=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002938265] Chr17:81512113 [GRCh38]
Chr17:79479139 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+8G>A single nucleotide variant ACTG1-related disorder [RCV004548442]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002962235] Chr17:81510919 [GRCh38]
Chr17:79477945 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.747C>T (p.Thr249=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003009270] Chr17:81511243 [GRCh38]
Chr17:79478269 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.9A>G (p.Glu3=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003060734] Chr17:81512346 [GRCh38]
Chr17:79479372 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.636C>T (p.Ile212=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002877164] Chr17:81511354 [GRCh38]
Chr17:79478380 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.174C>T (p.Ala58=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002938939] Chr17:81512092 [GRCh38]
Chr17:79479118 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1098C>G (p.Gly366=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002600873] Chr17:81510720 [GRCh38]
Chr17:79477746 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.567C>T (p.Leu189=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002632130] Chr17:81511423 [GRCh38]
Chr17:79478449 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.426C>T (p.Leu142=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002937802] Chr17:81511564 [GRCh38]
Chr17:79478590 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-11C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002716721] Chr17:81511119 [GRCh38]
Chr17:79478145 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.753C>T (p.Gly251=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003065563] Chr17:81511237 [GRCh38]
Chr17:79478263 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.363+10G>T single nucleotide variant ACTG1-related disorder [RCV004548445]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002959220] Chr17:81511893 [GRCh38]
Chr17:79478919 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.840C>T (p.Asn280=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002938266] Chr17:81511071 [GRCh38]
Chr17:79478097 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.91T>G (p.Phe31Val) single nucleotide variant Inborn genetic diseases [RCV002769346] Chr17:81512264 [GRCh38]
Chr17:79479290 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.364-15C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002633700] Chr17:81511641 [GRCh38]
Chr17:79478667 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.876C>T (p.Asp292=) single nucleotide variant ACTG1-related disorder [RCV004548335]|Autosomal dominant nonsyndromic hearing loss 20 [RCV002608574] Chr17:81511035 [GRCh38]
Chr17:79478061 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.378C>G (p.Thr126=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002606018] Chr17:81511612 [GRCh38]
Chr17:79478638 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+20G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002654257] Chr17:81510907 [GRCh38]
Chr17:79477933 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.906C>T (p.Gly302=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV002585544] Chr17:81511005 [GRCh38]
Chr17:79478031 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003988888]|not provided [RCV003141177] Chr17:81511204 [GRCh38]
Chr17:79478230 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.229A>G (p.Thr77Ala) single nucleotide variant not provided [RCV003159349] Chr17:81512037 [GRCh38]
Chr17:79479063 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.648G>A (p.Leu216=) single nucleotide variant not provided [RCV003422978] Chr17:81511342 [GRCh38]
Chr17:79478368 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003777401]|not provided [RCV003332506] Chr17:81510979 [GRCh38]
Chr17:79478005 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.803-15G>T single nucleotide variant not specified [RCV003479638] Chr17:81511123 [GRCh38]
Chr17:79478149 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.823C>T (p.His275Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003792471] Chr17:81511088 [GRCh38]
Chr17:79478114 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1 copy number loss not provided [RCV003483326] Chr17:79128754..80092824 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.364-17C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003781481] Chr17:81511643 [GRCh38]
Chr17:79478669 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003778398]|not provided [RCV003422977] Chr17:81510729 [GRCh38]
Chr17:79477755 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-9T>G single nucleotide variant ACTG1-related disorder [RCV004550767] Chr17:81510842 [GRCh38]
Chr17:79477868 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.674A>G (p.Gln225Arg) single nucleotide variant ACTG1-related disorder [RCV004550672] Chr17:81511316 [GRCh38]
Chr17:79478342 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.20C>T (p.Ala7Val) single nucleotide variant ACTG1-related disorder [RCV004550683]|Autosomal dominant nonsyndromic hearing loss 20 [RCV003886624] Chr17:81512335 [GRCh38]
Chr17:79479361 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001614.5(ACTG1):c.85G>A (p.Ala29Thr) single nucleotide variant ACTG1-related disorder [RCV004550794] Chr17:81512270 [GRCh38]
Chr17:79479296 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.123G>A (p.Gln41=) single nucleotide variant not provided [RCV003413387] Chr17:81512232 [GRCh38]
Chr17:79479258 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.32A>G (p.Asp11Gly) single nucleotide variant not provided [RCV003442744] Chr17:81512323 [GRCh38]
Chr17:79479349 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.364-17C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003783486] Chr17:81511643 [GRCh38]
Chr17:79478669 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.804T>C (p.Gly268=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793794] Chr17:81511107 [GRCh38]
Chr17:79478133 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.324C>G (p.Ala108=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003797165] Chr17:81511942 [GRCh38]
Chr17:79478968 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.513C>A (p.Leu171=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793941] Chr17:81511477 [GRCh38]
Chr17:79478503 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.792T>C (p.Pro264=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003784949] Chr17:81511198 [GRCh38]
Chr17:79478224 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.537C>T (p.Asp179=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003784950] Chr17:81511453 [GRCh38]
Chr17:79478479 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.706C>T (p.Leu236=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003792803] Chr17:81511284 [GRCh38]
Chr17:79478310 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1017G>A (p.Val339=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003797637] Chr17:81510801 [GRCh38]
Chr17:79477827 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.124-9C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003804367] Chr17:81512151 [GRCh38]
Chr17:79479177 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.36T>C (p.Asn12=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793019] Chr17:81512319 [GRCh38]
Chr17:79479345 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+13G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003783015] Chr17:81510914 [GRCh38]
Chr17:79477940 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.864C>T (p.Asp288=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003783969] Chr17:81511047 [GRCh38]
Chr17:79478073 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+13G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003780187] Chr17:81510914 [GRCh38]
Chr17:79477940 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-19G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003792968] Chr17:81511645 [GRCh38]
Chr17:79478671 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.507C>T (p.Tyr169=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793781] Chr17:81511483 [GRCh38]
Chr17:79478509 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+19C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003804807] Chr17:81511884 [GRCh38]
Chr17:79478910 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-10G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003804641] Chr17:81510843 [GRCh38]
Chr17:79477869 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.984+19G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003784800] Chr17:81510908 [GRCh38]
Chr17:79477934 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.525C>T (p.Ile175=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003786079] Chr17:81511465 [GRCh38]
Chr17:79478491 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+16C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793196] Chr17:81511887 [GRCh38]
Chr17:79478913 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003804728] Chr17:81510928 [GRCh38]
Chr17:79477954 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity
NM_001614.5(ACTG1):c.984+17G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793372] Chr17:81510910 [GRCh38]
Chr17:79477936 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.269T>C (p.Phe90Ser) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003806771] Chr17:81511997 [GRCh38]
Chr17:79479023 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1077G>A (p.Lys359=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003781483] Chr17:81510741 [GRCh38]
Chr17:79477767 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.123+7G>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003784456] Chr17:81512225 [GRCh38]
Chr17:79479251 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.342C>T (p.Ala114=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003796052] Chr17:81511924 [GRCh38]
Chr17:79478950 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-5T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003790145] Chr17:81510838 [GRCh38]
Chr17:79477864 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.279G>A (p.Glu93=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003788074] Chr17:81511987 [GRCh38]
Chr17:79479013 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+7C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003807072] Chr17:81511896 [GRCh38]
Chr17:79478922 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.313C>T (p.Leu105=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003804639] Chr17:81511953 [GRCh38]
Chr17:79478979 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1097G>A (p.Gly366Asp) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003805925] Chr17:81510721 [GRCh38]
Chr17:79477747 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.558C>A (p.Thr186=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003797164] Chr17:81511432 [GRCh38]
Chr17:79478458 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1041C>G (p.Ala347=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003806462] Chr17:81510777 [GRCh38]
Chr17:79477803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.799C>T (p.Leu267=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003796959] Chr17:81511191 [GRCh38]
Chr17:79478217 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.693A>T (p.Ala231=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003787105] Chr17:81511297 [GRCh38]
Chr17:79478323 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.600C>T (p.Phe200=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003791097] Chr17:81511390 [GRCh38]
Chr17:79478416 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.123+5G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003783464] Chr17:81512227 [GRCh38]
Chr17:79479253 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.698C>T (p.Ser233Phe) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003788504] Chr17:81511292 [GRCh38]
Chr17:79478318 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.474G>T (p.Gly158=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793782] Chr17:81511516 [GRCh38]
Chr17:79478542 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.375G>A (p.Glu125=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003783502] Chr17:81511615 [GRCh38]
Chr17:79478641 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.526C>T (p.Leu176=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003782050] Chr17:81511464 [GRCh38]
Chr17:79478490 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.958C>T (p.Leu320=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793432] Chr17:81510953 [GRCh38]
Chr17:79477979 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.364-19G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003788008] Chr17:81511645 [GRCh38]
Chr17:79478671 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.834C>T (p.Thr278=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003787970] Chr17:81511077 [GRCh38]
Chr17:79478103 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.802+15C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003793035] Chr17:81511173 [GRCh38]
Chr17:79478199 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.423C>T (p.Ser141=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003800658] Chr17:81511567 [GRCh38]
Chr17:79478593 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn) deletion Autosomal dominant nonsyndromic hearing loss 20 [RCV003812340] Chr17:81511274..81511276 [GRCh38]
Chr17:79478300..79478302 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001614.5(ACTG1):c.124-6dup duplication Autosomal dominant nonsyndromic hearing loss 20 [RCV003798583] Chr17:81512147..81512148 [GRCh38]
Chr17:79479173..79479174 [GRCh37]
Chr17:17q25.3		 benign
NM_001614.5(ACTG1):c.42C>T (p.Ser14=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003801875] Chr17:81512313 [GRCh38]
Chr17:79479339 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.450C>T (p.Gly150=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003799947] Chr17:81511540 [GRCh38]
Chr17:79478566 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.82C>T (p.Arg28Ter) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003815586] Chr17:81512273 [GRCh38]
Chr17:79479299 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.311T>A (p.Leu104Gln) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003801991] Chr17:81511955 [GRCh38]
Chr17:79478981 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1121G>A (p.Cys374Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003800077] Chr17:81510697 [GRCh38]
Chr17:79477723 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.252G>A (p.Lys84=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003801868] Chr17:81512014 [GRCh38]
Chr17:79479040 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.458T>C (p.Met153Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003799117] Chr17:81511532 [GRCh38]
Chr17:79478558 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.780G>C (p.Ala260=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003809204] Chr17:81511210 [GRCh38]
Chr17:79478236 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.803-4C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003799086] Chr17:81511112 [GRCh38]
Chr17:79478138 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.837C>T (p.Phe279=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003817795] Chr17:81511074 [GRCh38]
Chr17:79478100 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.5A>T (p.Glu2Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003801684] Chr17:81512350 [GRCh38]
Chr17:79479376 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.198C>T (p.Thr66=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003810503] Chr17:81512068 [GRCh38]
Chr17:79479094 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003812918] Chr17:81512031 [GRCh38]
Chr17:79479057 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.912C>T (p.Thr304=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003801034] Chr17:81510999 [GRCh38]
Chr17:79478025 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.1104C>G (p.Ser368=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003809246] Chr17:81510714 [GRCh38]
Chr17:79477740 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.724C>T (p.Leu242=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003810321] Chr17:81511266 [GRCh38]
Chr17:79478292 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.819C>T (p.Gly273=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003797952] Chr17:81511092 [GRCh38]
Chr17:79478118 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.645G>A (p.Lys215=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003809841] Chr17:81511345 [GRCh38]
Chr17:79478371 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.199C>T (p.Leu67=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003799776] Chr17:81512067 [GRCh38]
Chr17:79479093 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.346dup (p.Arg116fs) duplication Autosomal dominant nonsyndromic hearing loss 20 [RCV003803753] Chr17:81511919..81511920 [GRCh38]
Chr17:79478945..79478946 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.771T>C (p.Cys257=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 20 [RCV003802294] Chr17:81511219 [GRCh38]
Chr17:79478245 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.948G>C (p.Glu316Asp) single nucleotide variant ACTG1-related disorder [RCV004548772] Chr17:81510963 [GRCh38]
Chr17:79477989 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.615G>A (p.Glu205=) single nucleotide variant ACTG1-related disorder [RCV004548775] Chr17:81511375 [GRCh38]
Chr17:79478401 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.802+7G>A single nucleotide variant ACTG1-related disorder [RCV004554401] Chr17:81511181 [GRCh38]
Chr17:79478207 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.630C>T (p.Arg210=) single nucleotide variant ACTG1-related disorder [RCV004552816] Chr17:81511360 [GRCh38]
Chr17:79478386 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.366T>C (p.Ile122=) single nucleotide variant ACTG1-related disorder [RCV004551030] Chr17:81511624 [GRCh38]
Chr17:79478650 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.124-7C>T single nucleotide variant not specified [RCV004526386] Chr17:81512149 [GRCh38]
Chr17:79479175 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.123+8G>C single nucleotide variant ACTG1-related disorder [RCV004548764] Chr17:81512224 [GRCh38]
Chr17:79479250 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.363+12_363+13delinsAA indel not specified [RCV003988203] Chr17:81511890..81511891 [GRCh38]
Chr17:79478916..79478917 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu) single nucleotide variant not specified [RCV003988349] Chr17:81511996 [GRCh38]
Chr17:79479022 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.1119A>G (p.Lys373=) single nucleotide variant ACTG1-related disorder [RCV004554397] Chr17:81510699 [GRCh38]
Chr17:79477725 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.985-8C>T single nucleotide variant ACTG1-related disorder [RCV004548942] Chr17:81510841 [GRCh38]
Chr17:79477867 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001614.5(ACTG1):c.392C>A (p.Ala131Asp) single nucleotide variant Baraitser-winter syndrome 2 [RCV004566419] Chr17:81511598 [GRCh38]
Chr17:79478624 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.95C>A (p.Pro32His) single nucleotide variant Baraitser-winter syndrome 2 [RCV004566607] Chr17:81512260 [GRCh38]
Chr17:79479286 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NC_000017.10:g.(?_79477716)_(79479380_?)dup duplication Autosomal dominant nonsyndromic hearing loss 20 [RCV004581339] Chr17:79477716..79479380 [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
NM_001614.5(ACTG1):c.577C>T (p.Leu193Phe) single nucleotide variant not provided [RCV004592164] Chr17:81511413 [GRCh38]
Chr17:79478439 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.733G>A (p.Gly245Ser) single nucleotide variant not provided [RCV004592056] Chr17:81511257 [GRCh38]
Chr17:79478283 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001614.5(ACTG1):c.667T>C (p.Phe223Leu) single nucleotide variant Inborn genetic diseases [RCV004602771] Chr17:81511323 [GRCh38]
Chr17:79478349 [GRCh37]
Chr17:17q25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3880
Count of miRNA genes:872
Interacting mature miRNAs:1048
Transcripts:ENST00000331925, ENST00000570382, ENST00000571691, ENST00000571721, ENST00000572105, ENST00000573283, ENST00000574671, ENST00000575087, ENST00000575659, ENST00000575842, ENST00000575994, ENST00000576209, ENST00000576214, ENST00000576544, ENST00000576917
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
407121960GWAS770936_Hhair colour measurement QTL GWAS770936 (human)1e-14hair colour measurementcoat/hair color measurement (CMO:0001808)178151178081511781Human
407121610GWAS770586_Hvital capacity QTL GWAS770586 (human)2e-08vital capacity178151033081510331Human

Markers in Region
D17S668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371780,028,021 - 80,028,175UniSTSGRCh37
Build 361777,621,310 - 77,621,464RGDNCBI36
Celera1776,622,365 - 76,622,524RGD
Cytogenetic Map17q25UniSTS
HuRef1775,427,979 - 75,428,133UniSTS
Marshfield Genetic Map17126.46UniSTS
Marshfield Genetic Map17126.46RGD
deCODE Assembly Map17135.09UniSTS
D17S1806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371777,445,675 - 77,445,787UniSTSGRCh37
Build 361774,957,270 - 74,957,382RGDNCBI36
Celera1774,043,387 - 74,043,519RGD
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1772,868,248 - 72,868,374UniSTS
Marshfield Genetic Map17114.41UniSTS
Marshfield Genetic Map17114.41RGD
Genethon Genetic Map17115.4UniSTS
RH48849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,481,381 - 79,481,528UniSTSGRCh37
Build 361777,095,976 - 77,096,123RGDNCBI36
Celera1776,124,594 - 76,124,741RGD
Cytogenetic Map17q25UniSTS
HuRef1774,930,197 - 74,930,344UniSTS
GeneMap99-GB4 RH Map17527.42UniSTS
NCBI RH Map17810.0UniSTS
D17S1646E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,477,051 - 79,477,118UniSTSGRCh37
GRCh37315,679,587 - 15,679,654UniSTSGRCh37
Build 36315,654,591 - 15,654,658RGDNCBI36
Celera315,617,732 - 15,617,799RGD
Cytogenetic Map3p25UniSTS
Cytogenetic Map17q25UniSTS
HuRef1774,925,867 - 74,925,934UniSTS
HuRef315,614,826 - 15,614,893UniSTS
PMC109669P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,567,384 - 5,568,196UniSTSGRCh37
GRCh371779,477,721 - 79,478,498UniSTSGRCh37
Build 3675,533,910 - 5,534,722RGDNCBI36
Celera75,527,165 - 5,527,977RGD
HuRef1774,926,537 - 74,927,314UniSTS
HuRef75,479,948 - 5,480,760UniSTS
CRA_TCAGchr7v275,613,729 - 5,614,541UniSTS
PMC116333P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,479,085 - 79,479,373UniSTSGRCh37
Build 361777,093,680 - 77,093,968RGDNCBI36
Cytogenetic Map17q25UniSTS
HuRef1774,927,901 - 74,928,189UniSTS
PMC116333P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,479,085 - 79,479,293UniSTSGRCh37
Build 361777,093,680 - 77,093,888RGDNCBI36
Cytogenetic Map17q25UniSTS
HuRef1774,927,901 - 74,928,109UniSTS
PMC149466P5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,479,756 - 79,479,929UniSTSGRCh37
Build 361777,094,351 - 77,094,524RGDNCBI36
Cytogenetic Map17q25UniSTS
HuRef1774,928,572 - 74,928,745UniSTS
PMC149466P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,478,706 - 79,478,839UniSTSGRCh37
Build 361777,093,301 - 77,093,434RGDNCBI36
Cytogenetic Map17q25UniSTS
HuRef1774,927,522 - 74,927,655UniSTS
PMC149466P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371779,478,039 - 79,478,172UniSTSGRCh37
Build 361777,092,634 - 77,092,767RGDNCBI36
Cytogenetic Map17q25UniSTS
HuRef1774,926,855 - 74,926,988UniSTS
UniSTS:478947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376101,878,373 - 101,878,734UniSTSGRCh37
Celera6102,522,492 - 102,522,853RGD
HuRef699,320,741 - 99,321,102UniSTS
SHGC-8015  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
GeneMap99-G3 RH Map174220.0UniSTS
PMC108612P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p22UniSTS
PMC109653P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q25UniSTS
PMC117780P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map17q25UniSTS
PMC129447P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
PMC23952P1  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map10q23.3UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q11.2UniSTS
PMC305873P2  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7p22UniSTS
PMC85795P4  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p22UniSTS
Cytogenetic Map17q25UniSTS
G06574  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1p36.11UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_037688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB839002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC139149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY970501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB455954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC250969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC311158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000570382   ⟹   ENSP00000466346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1781,509,976 - 81,512,818 (-)Ensembl
Ensembl Acc Id: ENST00000571691   ⟹   ENSP00000461407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1781,510,690 - 81,512,799 (-)Ensembl