WHRN (whirlin) - Rat Genome Database

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Gene: WHRN (whirlin) Homo sapiens
Analyze
Symbol: WHRN
Name: whirlin
RGD ID: 1349509
HGNC Page HGNC:16361
Description: Predicted to enable identical protein binding activity. Involved in retina homeostasis; sensory perception of light stimulus; and sensory perception of sound. Located in cytoplasm. Implicated in Usher syndrome type 2D; autosomal recessive nonsyndromic deafness 31; and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: autosomal recessive deafness type 31 protein; CASK-interacting protein CIP98; CIP98; deafness, autosomal recessive 31; DFNB31; DKFZp434N014; KIAA1526; PDZD7B; RP11-9M16.1; USH2D; WI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389114,402,080 - 114,505,473 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,402,078 - 114,505,525 (-)Ensemblhg38GRCh38
GRCh379117,164,360 - 117,267,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369116,204,181 - 116,307,551 (-)NCBIBuild 36Build 36hg18NCBI36
Celera987,812,014 - 87,915,400 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,769,691 - 86,872,943 (-)NCBIHuRef
CHM1_19117,311,097 - 117,414,443 (-)NCBICHM1_1
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Mechanotransduction by hair cells: models, molecules, and mechanisms. Gillespie PG and Muller U, Cell. 2009 Oct 2;139(1):33-44. doi: 10.1016/j.cell.2009.09.010.
2. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Mburu P, etal., Nat Genet. 2003 Aug;34(4):421-8.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
Additional References at PubMed
PMID:10819331   PMID:11973626   PMID:12421765   PMID:12477932   PMID:12641734   PMID:14702039   PMID:15590698   PMID:16344560   PMID:16434480   PMID:17171570   PMID:17584769   PMID:19308021  
PMID:19724906   PMID:20301515   PMID:20301590   PMID:20301607   PMID:20352026   PMID:20414141   PMID:20583170   PMID:21254220   PMID:21738389   PMID:21873635   PMID:22147658   PMID:23023331  
PMID:23251661   PMID:23441107   PMID:24022220   PMID:24618850   PMID:25406310   PMID:25798074   PMID:27173435   PMID:28137943   PMID:29270100   PMID:30726710   PMID:30831381   PMID:31638198  
PMID:32296183   PMID:33539879   PMID:33626355   PMID:37704626   PMID:37924449   PMID:40593736  


Genomics

Comparative Map Data
WHRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389114,402,080 - 114,505,473 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9114,402,078 - 114,505,525 (-)Ensemblhg38GRCh38
GRCh379117,164,360 - 117,267,753 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369116,204,181 - 116,307,551 (-)NCBIBuild 36Build 36hg18NCBI36
Celera987,812,014 - 87,915,400 (-)NCBICelera
Cytogenetic Map9q32NCBI
HuRef986,769,691 - 86,872,943 (-)NCBIHuRef
CHM1_19117,311,097 - 117,414,443 (-)NCBICHM1_1
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBIT2T-CHM13v2.0
Whrn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39463,333,145 - 63,414,320 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl463,333,147 - 63,414,228 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38463,414,908 - 63,496,083 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl463,414,910 - 63,495,991 (-)Ensemblmm10GRCm38
MGSCv37463,075,944 - 63,156,985 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36462,901,271 - 62,982,312 (-)NCBIMGSCv36mm8
Celera462,074,390 - 62,155,742 (-)NCBICelera
Cytogenetic Map4B3NCBI
cM Map433.97NCBI
Whrn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8581,843,820 - 81,933,400 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl581,843,820 - 81,927,381 (-)EnsemblGRCr8
mRatBN7.2576,828,308 - 76,911,945 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl576,828,301 - 76,912,223 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx579,227,420 - 79,311,432 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0581,044,573 - 81,128,580 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0581,020,074 - 81,104,084 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0579,235,541 - 79,317,206 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl579,234,950 - 79,317,206 (-)Ensemblrn6Rnor6.0
Rnor_5.0583,349,720 - 83,431,410 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4580,382,665 - 80,464,817 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera575,762,917 - 75,845,137 (-)NCBICelera
RGSC_v3.1580,387,779 - 80,469,930 (-)NCBI
Cytogenetic Map5q24NCBI
Whrn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541913,116,001 - 13,207,266 (+)Ensembl
ChiLan1.0NW_00495541913,116,001 - 13,207,266 (+)NCBIChiLan1.0ChiLan1.0
WHRN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21124,865,908 - 24,975,132 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1924,868,258 - 24,977,492 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0985,500,222 - 85,604,417 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19113,863,872 - 113,966,758 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9113,863,872 - 113,966,758 (-)EnsemblpanPan2panpan1.1
WHRN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11168,617,383 - 68,699,824 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1168,617,377 - 68,699,977 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1167,019,883 - 67,101,711 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01169,740,224 - 69,822,125 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1169,740,233 - 69,822,842 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11168,255,680 - 68,337,474 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01168,297,095 - 68,379,026 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01169,026,162 - 69,108,222 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Whrn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947183,899,942 - 183,979,707 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364873,669,104 - 3,748,238 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364873,668,465 - 3,748,234 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WHRN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1255,009,771 - 255,095,222 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11255,009,765 - 255,095,281 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21286,086,617 - 286,113,609 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WHRN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11225,087,286 - 25,189,982 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1225,087,295 - 25,189,985 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603517,635,394 - 17,737,856 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Whrn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476020,700,593 - 20,788,628 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462476020,700,632 - 20,788,628 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Whrn
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1190,089,102 - 90,172,093 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in WHRN
899 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015404.4(WHRN):c.737del (p.Pro246fs) deletion Usher syndrome type 2D [RCV000024377]|not provided [RCV003556086] Chr9:114478653 [GRCh38]
Chr9:117240933 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.680dup (p.Tyr228fs) duplication Usher syndrome type 2D [RCV000024378]|not provided [RCV001852569] Chr9:114478709..114478710 [GRCh38]
Chr9:117240989..117240990 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2332C>T (p.Arg778Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000002808]|Autosomal recessive nonsyndromic hearing loss 31 [RCV005411277]|Usher syndrome [RCV003226155]|not provided [RCV001851590] Chr9:114403982 [GRCh38]
Chr9:117166262 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.307C>T (p.Gln103Ter) single nucleotide variant Usher syndrome type 2D [RCV000002809] Chr9:114504495 [GRCh38]
Chr9:117266775 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.837+1G>A single nucleotide variant Usher syndrome type 2D [RCV000002810] Chr9:114478552 [GRCh38]
Chr9:117240832 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2419C>G (p.Pro807Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167837]|Usher syndrome type 2D [RCV001167836]|not provided [RCV000728058] Chr9:114403339 [GRCh38]
Chr9:117165619 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.390C>A (p.Pro130=) single nucleotide variant not provided [RCV001495050] Chr9:114504412 [GRCh38]
Chr9:117266692 [GRCh37]
Chr9:9q32		 likely benign
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys) single nucleotide variant not specified [RCV000038855] Chr9:114426219 [GRCh38]
Chr9:117188499 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1091= (p.His364=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001659977]|not provided [RCV001515952]|not specified [RCV000038858] Chr9:114426286 [GRCh38]
Chr9:117188566 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1135C>T (p.Arg379Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165950]|Usher syndrome type 2D [RCV001165949]|not provided [RCV000886961]|not specified [RCV000038859] Chr9:114426242 [GRCh38]
Chr9:117188522 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1149C>T (p.Thr383=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165946]|Usher syndrome type 2D [RCV001165945]|not provided [RCV000898456]|not specified [RCV000038860] Chr9:114426228 [GRCh38]
Chr9:117188508 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1176C>T (p.Gly392=) single nucleotide variant not provided [RCV000827312]|not specified [RCV000038861] Chr9:114425015 [GRCh38]
Chr9:117187295 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.117G>A (p.Val39=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000392568]|Usher syndrome type 2D [RCV000306250]|not provided [RCV001509918]|not specified [RCV000038862] Chr9:114504685 [GRCh38]
Chr9:117266965 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter) single nucleotide variant Rare genetic deafness [RCV000038863] Chr9:114424483 [GRCh38]
Chr9:117186763 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1291C>T (p.Arg431Trp) single nucleotide variant not specified [RCV000038864] Chr9:114424459 [GRCh38]
Chr9:117186739 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000289765]|Retinitis pigmentosa-deafness syndrome [RCV000347007]|Usher syndrome type 2D [RCV001095339]|not provided [RCV001517114]|not specified [RCV000038865] Chr9:114424432 [GRCh38]
Chr9:117186712 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1349G>A (p.Arg450His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168064]|Autosomal recessive nonsyndromic hearing loss 31 [RCV004720233]|Usher syndrome type 2D [RCV001168063]|not provided [RCV001206517]|not specified [RCV000038866] Chr9:114424401 [GRCh38]
Chr9:117186681 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000263440]|Usher syndrome type 2D [RCV000330266]|not provided [RCV000827335]|not specified [RCV000038867] Chr9:114424398 [GRCh38]
Chr9:117186678 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000355875]|Usher syndrome type 2D [RCV000298687]|not provided [RCV001515951]|not specified [RCV000038868] Chr9:114424397 [GRCh38]
Chr9:117186677 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1360G>A (p.Val454Ile) single nucleotide variant not provided [RCV002513511]|not specified [RCV000038869] Chr9:114424390 [GRCh38]
Chr9:117186670 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000361686]|Usher syndrome type 2D [RCV000259971]|not provided [RCV000723649]|not specified [RCV000038870] Chr9:114424385 [GRCh38]
Chr9:117186665 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1417-8G>A single nucleotide variant not provided [RCV000727381]|not specified [RCV000038871] Chr9:114423531 [GRCh38]
Chr9:117185811 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165874]|Usher syndrome type 2D [RCV001165873]|not provided [RCV000888343]|not specified [RCV000038872] Chr9:114423486 [GRCh38]
Chr9:117185766 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000309979]|Usher syndrome type 2D [RCV000339210]|not provided [RCV000991889]|not specified [RCV000038873] Chr9:114423425 [GRCh38]
Chr9:117185705 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1542G>A (p.Gly514=) single nucleotide variant not specified [RCV000038874] Chr9:114423398 [GRCh38]
Chr9:117185678 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1578T>C (p.Gly526=) single nucleotide variant not provided [RCV002513512]|not specified [RCV000038875] Chr9:114423362 [GRCh38]
Chr9:117185642 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1608C>G (p.Thr536=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000344960]|Usher syndrome type 2D [RCV000393005]|WHRN-related disorder [RCV004757957]|not provided [RCV000897458]|not specified [RCV000038876] Chr9:114423332 [GRCh38]
Chr9:117185612 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1625G>A (p.Arg542Lys) single nucleotide variant not provided [RCV001364579]|not specified [RCV000038877] Chr9:114423315 [GRCh38]
Chr9:117185595 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1627-12G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000293410]|Usher syndrome type 2D [RCV000350700]|not provided [RCV001511600]|not specified [RCV000038878] Chr9:114408030 [GRCh38]
Chr9:117170310 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000372875]|Retinitis pigmentosa-deafness syndrome [RCV000280917]|Usher syndrome type 2D [RCV001095331]|not provided [RCV001515735]|not specified [RCV000038879] Chr9:114407961 [GRCh38]
Chr9:117170241 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1696G>C (p.Val566Leu) single nucleotide variant not provided [RCV001213992]|not specified [RCV000038880] Chr9:114407949 [GRCh38]
Chr9:117170229 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000267996]|Usher syndrome type 2D [RCV000316178]|not provided [RCV001517113]|not specified [RCV000038881] Chr9:114406753 [GRCh38]
Chr9:117169033 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000346369]|Autosomal recessive nonsyndromic hearing loss 31 [RCV000477861]|Usher syndrome type 2D [RCV000291435]|not provided [RCV000723700]|not specified [RCV000038882] Chr9:114504611 [GRCh38]
Chr9:117266891 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000393736]|Usher syndrome type 2D [RCV000348525]|not provided [RCV000839194]|not specified [RCV000038883] Chr9:114406545 [GRCh38]
Chr9:117168825 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2056C>A (p.Pro686Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001169779]|Usher syndrome type 2D [RCV001169778]|not provided [RCV001233944]|not specified [RCV000038884] Chr9:114406535 [GRCh38]
Chr9:117168815 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2085G>A (p.Glu695=) single nucleotide variant not provided [RCV002054721]|not specified [RCV000038885] Chr9:114406506 [GRCh38]
Chr9:117168786 [GRCh37]
Chr9:9q32		 likely benign
c.2256C>G single nucleotide variant AllHighlyPenetrant [RCV000038886]|not specified [RCV000038886] Chr9:9q32 benign
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000329423]|Usher syndrome type 2D [RCV000272064]|not provided [RCV001515949]|not specified [RCV000038887] Chr9:114404031 [GRCh38]
Chr9:117166311 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.2293G>C (p.Gly765Arg) single nucleotide variant not specified [RCV000038888] Chr9:114404021 [GRCh38]
Chr9:117166301 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167578]|Usher syndrome type 2D [RCV001167579]|not provided [RCV000514950]|not specified [RCV000038889] Chr9:114504573 [GRCh38]
Chr9:117266853 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000370224]|Usher syndrome type 2D [RCV000278001]|not provided [RCV001517112]|not specified [RCV000038890] Chr9:114403966 [GRCh38]
Chr9:114403966..114403967 [GRCh38]
Chr9:117166246 [GRCh37]
Chr9:117166246..117166247 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.2354C>T (p.Thr785Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001169715]|Retinal dystrophy [RCV004814959]|Usher syndrome type 2D [RCV001169716]|not provided [RCV001204993]|not specified [RCV000038891] Chr9:114403960 [GRCh38]
Chr9:117166240 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000334982]|Retinitis pigmentosa-deafness syndrome [RCV000391015]|Usher syndrome type 2D [RCV001095334]|not provided [RCV001514504]|not specified [RCV000038892] Chr9:114403926 [GRCh38]
Chr9:117166206 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000391031]|Usher syndrome type 2D [RCV000305815]|not provided [RCV000839195]|not specified [RCV000038893] Chr9:114403319 [GRCh38]
Chr9:117165599 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000283620]|Usher syndrome type 2D [RCV000340982]|not provided [RCV000960908]|not specified [RCV000038894] Chr9:114402892 [GRCh38]
Chr9:117165172 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168207]|Retinitis pigmentosa-deafness syndrome [RCV000988244]|Usher syndrome type 2D [RCV001168208]|not provided [RCV000725335]|not specified [RCV000038895] Chr9:114504769 [GRCh38]
Chr9:117267049 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.619G>T (p.Ala207Ser) single nucleotide variant Inborn genetic diseases [RCV002513513]|not specified [RCV000038896] Chr9:114478771 [GRCh38]
Chr9:117241051 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.643del (p.Val215fs) deletion Rare genetic deafness [RCV000038897] Chr9:114478747 [GRCh38]
Chr9:117241027 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166013]|Usher syndrome type 2D [RCV001166012]|not provided [RCV000961958]|not specified [RCV000038898] Chr9:114478723 [GRCh38]
Chr9:117241003 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.668G>A (p.Arg223His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000279685]|Usher syndrome type 2D [RCV000316099]|not provided [RCV000839182]|not specified [RCV000038899] Chr9:114478722 [GRCh38]
Chr9:117241002 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.744G>A (p.Ser248=) single nucleotide variant not provided [RCV002513514]|not specified [RCV000038900] Chr9:114478646 [GRCh38]
Chr9:117240926 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) single nucleotide variant not provided [RCV000711442]|not specified [RCV000038901] Chr9:114478626 [GRCh38]
Chr9:117240906 [GRCh37]
Chr9:9q32		 benign|likely benign
GRCh38/hg38 9q32(chr9:114246876-114637081)x3 copy number gain See cases [RCV000052236] Chr9:114246876..114637081 [GRCh38]
Chr9:117009156..117399361 [GRCh37]
Chr9:116048977..116439182 [NCBI36]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9q32(chr9:114270395-114677524)x3 copy number gain See cases [RCV000052237] Chr9:114270395..114677524 [GRCh38]
Chr9:117032675..117439804 [GRCh37]
Chr9:116072496..116479625 [NCBI36]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 copy number loss See cases [RCV000052921] Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.2617C>T (p.Arg873Trp) single nucleotide variant not provided [RCV001243756] Chr9:114402861 [GRCh38]
Chr9:117165141 [GRCh37]
Chr9:116204962 [NCBI36]
Chr9:9q32		 uncertain significance|not provided
NM_015404.4(WHRN):c.2183G>A (p.Arg728His) single nucleotide variant not provided [RCV000081736] Chr9:114406408 [GRCh38]
Chr9:117168688 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.618+1058G>A single nucleotide variant not provided [RCV004712092]|not specified [RCV000124671] Chr9:114503126 [GRCh38]
Chr9:117265406 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1166+18G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002505084]|not provided [RCV001512999]|not specified [RCV000124672] Chr9:114426193 [GRCh38]
Chr9:117188473 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_015404.4(WHRN):c.2284G>A (p.Glu762Lys) single nucleotide variant not provided [RCV001344950]|not specified [RCV001195410] Chr9:114404030 [GRCh38]
Chr9:117166310 [GRCh37]
Chr9:9q32		 uncertain significance
NC_000009.12:g.(?_114402754)_(114504801_?)dup duplication not specified [RCV001195411] Chr9:117165034..117267081 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1507A>C (p.Met503Leu) single nucleotide variant not provided [RCV001348604] Chr9:114423433 [GRCh38]
Chr9:117185713 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1417-1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005042392]|not provided [RCV000179947] Chr9:114423524 [GRCh38]
Chr9:117185804 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000144090]|not provided [RCV001315199] Chr9:114423471 [GRCh38]
Chr9:117185751 [GRCh37]
Chr9:9q32		 uncertain significance|not provided
NM_015404.4(WHRN):c.1018G>A (p.Asp340Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001333863] Chr9:114426359 [GRCh38]
Chr9:117188639 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2237-10C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167311]|Usher syndrome type 2D [RCV001167310]|not provided [RCV000173869] Chr9:114404087 [GRCh38]
Chr9:117166367 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165659]|Retinal dystrophy [RCV004816260]|Usher syndrome type 2D [RCV001165660]|not provided [RCV000724279]|not specified [RCV000174376] Chr9:114402834 [GRCh38]
Chr9:117165114 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.740C>G (p.Pro247Arg) single nucleotide variant not provided [RCV000513709] Chr9:114478650 [GRCh38]
Chr9:117240930 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q32(chr9:114246889-114637174)x3 copy number gain See cases [RCV000138841] Chr9:114246889..114637174 [GRCh38]
Chr9:117009169..117399454 [GRCh37]
Chr9:116048990..116439275 [NCBI36]
Chr9:9q32		 likely benign
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 copy number loss See cases [RCV000140794] Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1		 pathogenic
GRCh38/hg38 9q32(chr9:114193726-114677465)x3 copy number gain See cases [RCV000140795] Chr9:114193726..114677465 [GRCh38]
Chr9:116956006..117439745 [GRCh37]
Chr9:115995827..116479566 [NCBI36]
Chr9:9q32		 benign
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165948]|Autosomal recessive nonsyndromic hearing loss 31 [RCV002483301]|Hearing impairment [RCV001375239]|Usher syndrome type 2D [RCV001165947]|not provided [RCV001037191]|not specified [RCV000150392] Chr9:114426229 [GRCh38]
Chr9:117188509 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.676G>C (p.Gly226Arg) single nucleotide variant not specified [RCV000150393] Chr9:114478714 [GRCh38]
Chr9:117240994 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.427T>C (p.Leu143=) single nucleotide variant not specified [RCV000150394] Chr9:114504375 [GRCh38]
Chr9:117266655 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.44C>T (p.Thr15Ile) single nucleotide variant not provided [RCV001243418]|not specified [RCV000150395] Chr9:114504758 [GRCh38]
Chr9:117267038 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168958]|Usher syndrome type 2D [RCV001168959]|not provided [RCV001422011]|not specified [RCV000156142] Chr9:114504783 [GRCh38]
Chr9:117267063 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000477755]|not specified [RCV000156154] Chr9:114402909 [GRCh38]
Chr9:117165189 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1626+9C>A single nucleotide variant not specified [RCV000156293] Chr9:114423305 [GRCh38]
Chr9:117185585 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2256G>C (p.Gln752His) single nucleotide variant not provided [RCV000964639]|not specified [RCV000154362] Chr9:114404058 [GRCh38]
Chr9:117166338 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1091A>G (p.His364Arg) single nucleotide variant not provided [RCV000964640]|not specified [RCV000154365] Chr9:114426286 [GRCh38]
Chr9:117188566 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.725G>A (p.Arg242His) single nucleotide variant not provided [RCV001850164]|not specified [RCV000156584] Chr9:114478665 [GRCh38]
Chr9:117240945 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2333G>A (p.Arg778Gln) single nucleotide variant not provided [RCV001326126]|not specified [RCV000156678] Chr9:114403981 [GRCh38]
Chr9:117166261 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2722T>C (p.Ter908Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002492601]|not provided [RCV003660765]|not specified [RCV000156778] Chr9:114402756 [GRCh38]
Chr9:117165036 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2060C>T (p.Pro687Leu) single nucleotide variant not provided [RCV000732122]|not specified [RCV000156829] Chr9:114406531 [GRCh38]
Chr9:117168811 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2256= (p.Gln752=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001657844]|not provided [RCV001515950]|not specified [RCV000038886] Chr9:114404058 [GRCh38]
Chr9:117166338 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1678G>A (p.Ala560Thr) single nucleotide variant WHRN-related disorder [RCV004757964]|not provided [RCV001204350]|not specified [RCV000150389] Chr9:114407967 [GRCh38]
Chr9:117170247 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1627-5T>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167987]|Retinal dystrophy [RCV000225418]|Usher syndrome type 2D [RCV001167988]|WHRN-related disorder [RCV004757965]|not provided [RCV000723851]|not specified [RCV000150390] Chr9:114408023 [GRCh38]
Chr9:117170303 [GRCh37]
Chr9:9q32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1222C>A (p.Pro408Thr) single nucleotide variant Inborn genetic diseases [RCV004019804]|not provided [RCV001229665]|not specified [RCV000150391] Chr9:114424528 [GRCh38]
Chr9:117186808 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2644C>T (p.Arg882Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001334858]|WHRN-related disorder [RCV003917536]|not provided [RCV000898115]|not specified [RCV000156923] Chr9:114402834 [GRCh38]
Chr9:117165114 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1992G>A (p.Pro664=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000308124]|Usher syndrome type 2D [RCV000393724]|WHRN-related disorder [RCV003927500]|not provided [RCV000907763]|not specified [RCV000155080] Chr9:114406599 [GRCh38]
Chr9:117168879 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.328A>G (p.Thr110Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000340644]|Usher syndrome type 2D [RCV000390489]|not provided [RCV001227686]|not specified [RCV000155616] Chr9:114504474 [GRCh38]
Chr9:117266754 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) single nucleotide variant WHRN-related disorder [RCV003907468]|not provided [RCV000757151]|not specified [RCV000155081] Chr9:114426329 [GRCh38]
Chr9:117188609 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.955G>T (p.Gly319Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000277600]|Usher syndrome type 2D [RCV000332679]|not provided [RCV001361851]|not specified [RCV000155082] Chr9:114466275 [GRCh38]
Chr9:117228555 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.409G>C (p.Glu137Gln) single nucleotide variant WHRN-related disorder [RCV004757967]|not provided [RCV000936540]|not specified [RCV000156798] Chr9:114504393 [GRCh38]
Chr9:117266673 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) single nucleotide variant WHRN-related disorder [RCV003947539]|not provided [RCV000724324]|not specified [RCV000218629] Chr9:114406388 [GRCh38]
Chr9:117168668 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) single nucleotide variant not provided [RCV000724270]|not specified [RCV000223262] Chr9:114406479 [GRCh38]
Chr9:117168759 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV004698339]|Retinal dystrophy [RCV004816313]|not provided [RCV000724278]|not specified [RCV000180652] Chr9:114406648 [GRCh38]
Chr9:117168928 [GRCh37]
Chr9:9q32		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000185565]|Hearing impairment [RCV001375279]|Usher syndrome type 2D [RCV000185564]|WHRN-related disorder [RCV003947558]|not provided [RCV000415812]|not specified [RCV000216709] Chr9:114406564 [GRCh38]
Chr9:117168844 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2423del (p.Gly808fs) deletion Autosomal recessive nonsyndromic hearing loss 31 [RCV000190401] Chr9:114403335 [GRCh38]
Chr9:117165615 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1075G>A (p.Val359Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000271876]|Usher syndrome type 2D [RCV000366983]|WHRN-related disorder [RCV003940063]|not provided [RCV000880644]|not specified [RCV000330120] Chr9:114426302 [GRCh38]
Chr9:117188582 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1547C>T (p.Thr516Ile) single nucleotide variant not provided [RCV001853442]|not specified [RCV000223590] Chr9:114423393 [GRCh38]
Chr9:117185673 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) single nucleotide variant not provided [RCV001210819]|not specified [RCV000213267] Chr9:114403897 [GRCh38]
Chr9:117166177 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.75C>T (p.Gly25=) single nucleotide variant not provided [RCV000973441]|not specified [RCV000219867] Chr9:114504727 [GRCh38]
Chr9:117267007 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) single nucleotide variant WHRN-related disorder [RCV003917893]|not provided [RCV001230294]|not specified [RCV000213530] Chr9:114426382 [GRCh38]
Chr9:117188662 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.998G>A (p.Ser333Asn) single nucleotide variant not provided [RCV001406441]|not specified [RCV000213549] Chr9:114426379 [GRCh38]
Chr9:117188659 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.75CGG[2] (p.Gly29del) microsatellite not provided [RCV000755503]|not specified [RCV000213620] Chr9:114504719..114504721 [GRCh38]
Chr9:117266999..117267001 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2418+3G>A single nucleotide variant not specified [RCV000215527] Chr9:114403893 [GRCh38]
Chr9:117166173 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2029A>G (p.Ile677Val) single nucleotide variant not specified [RCV000220350] Chr9:114406562 [GRCh38]
Chr9:117168842 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.943G>C (p.Ala315Pro) single nucleotide variant Inborn genetic diseases [RCV002519627]|not provided [RCV001342514]|not specified [RCV000218160] Chr9:114466287 [GRCh38]
Chr9:117228567 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.35C>T (p.Ser12Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002503852]|not provided [RCV000766843]|not specified [RCV000220604] Chr9:114504767 [GRCh38]
Chr9:117267047 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1824G>A (p.Gln608=) single nucleotide variant not specified [RCV000222347] Chr9:114406767 [GRCh38]
Chr9:117169047 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2322C>T (p.Ser774=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000325777]|Usher syndrome type 2D [RCV000364172]|not provided [RCV000973188]|not specified [RCV000222880] Chr9:114403992 [GRCh38]
Chr9:117166272 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1833C>T (p.Ser611=) single nucleotide variant not provided [RCV005090059]|not specified [RCV000214705] Chr9:114406758 [GRCh38]
Chr9:117169038 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.234G>A (p.Leu78=) single nucleotide variant not provided [RCV000973440]|not specified [RCV000216571] Chr9:114504568 [GRCh38]
Chr9:117266848 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1887G>A (p.Pro629=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000321890]|Usher syndrome type 2D [RCV000360251]|WHRN-related disorder [RCV003937823]|not provided [RCV000965116]|not specified [RCV000219020] Chr9:114406704 [GRCh38]
Chr9:117168984 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1716C>T (p.Thr572=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167380]|Usher syndrome type 2D [RCV001167381]|not provided [RCV000937866]|not specified [RCV000219079] Chr9:114406875 [GRCh38]
Chr9:117169155 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2510G>A (p.Arg837His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002485382]|Optic atrophy [RCV004816366]|not provided [RCV000726641]|not specified [RCV000216895] Chr9:114403248 [GRCh38]
Chr9:117165528 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2193C>T (p.Ser731=) single nucleotide variant not provided [RCV001302651]|not specified [RCV000216972] Chr9:114406398 [GRCh38]
Chr9:117168678 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) single nucleotide variant Retinal dystrophy [RCV000225567]|not provided [RCV001854804] Chr9:114406783 [GRCh38]
Chr9:117169063 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1603T>C (p.Ser535Pro) single nucleotide variant not provided [RCV001367990] Chr9:114423337 [GRCh38]
Chr9:117185617 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.171G>A (p.Gln57=) single nucleotide variant not provided [RCV002064319]|not specified [RCV000600607] Chr9:114504631 [GRCh38]
Chr9:117266911 [GRCh37]
Chr9:9q32		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q32(chr9:116978042-117187294)x1 copy number loss See cases [RCV000240427] Chr9:116978042..117187294 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1305C>T (p.Asn435=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000283797]|Usher syndrome type 2D [RCV000385176]|not provided [RCV000881335]|not specified [RCV000825692] Chr9:114424445 [GRCh38]
Chr9:117186725 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2261C>T (p.Ser754Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000284029]|Autosomal recessive nonsyndromic hearing loss 31 [RCV001535510]|Usher syndrome type 2D [RCV000376173]|not provided [RCV001850930] Chr9:114404053 [GRCh38]
Chr9:117166333 [GRCh37]
Chr9:9q32		 uncertain significance|not provided
NM_015404.4(WHRN):c.-269C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000353728]|Usher syndrome type 2D [RCV000268289] Chr9:114505070 [GRCh38]
Chr9:117267350 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.549G>A (p.Arg183=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000380051]|Usher syndrome type 2D [RCV000285400]|not provided [RCV000918490] Chr9:114504253 [GRCh38]
Chr9:117266533 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2248C>G (p.Leu750Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000322577]|Usher syndrome type 2D [RCV000379574] Chr9:114404066 [GRCh38]
Chr9:117166346 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*37C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000345020]|Usher syndrome type 2D [RCV000383219]|not provided [RCV001533851] Chr9:114402717 [GRCh38]
Chr9:117164997 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.-23C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000370352]|Usher syndrome type 2D [RCV000392564] Chr9:114504824 [GRCh38]
Chr9:117267104 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-295C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000378005]|Usher syndrome type 2D [RCV000323313]|not provided [RCV001577399] Chr9:114505096 [GRCh38]
Chr9:117267376 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1626+8T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000400920]|Usher syndrome type 2D [RCV000287518]|not provided [RCV001502135] Chr9:114423306 [GRCh38]
Chr9:117185586 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.*149A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000389060]|Usher syndrome type 2D [RCV000287594] Chr9:114402605 [GRCh38]
Chr9:117164885 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1378G>A (p.Val460Ile) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000304721]|Usher syndrome type 2D [RCV000392996]|not provided [RCV003231467] Chr9:114424372 [GRCh38]
Chr9:117186652 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1892C>T (p.Ala631Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000272831]|Usher syndrome type 2D [RCV000365003]|not provided [RCV001246021] Chr9:114406699 [GRCh38]
Chr9:117168979 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.837+5G>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000387115]|Usher syndrome type 2D [RCV000273926] Chr9:114478548 [GRCh38]
Chr9:117240828 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*156G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000274512]|Usher syndrome type 2D [RCV000331983]|not provided [RCV004696104] Chr9:114402598 [GRCh38]
Chr9:117164878 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-91C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000312226]|Usher syndrome type 2D [RCV000366939]|not provided [RCV001637003] Chr9:114504892 [GRCh38]
Chr9:117267172 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1331A>G (p.Tyr444Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000334249]|Usher syndrome type 2D [RCV000381831]|not provided [RCV001234791] Chr9:114424419 [GRCh38]
Chr9:117186699 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2173G>C (p.Glu725Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000278225]|Usher syndrome type 2D [RCV000335596] Chr9:114406418 [GRCh38]
Chr9:117168698 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*188A>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000262012]|Usher syndrome type 2D [RCV000354427] Chr9:114402566 [GRCh38]
Chr9:117164846 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-257C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000318217]|Usher syndrome type 2D [RCV000263075]|not provided [RCV001712558] Chr9:114505058 [GRCh38]
Chr9:117267338 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.-510G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000295414]|Usher syndrome type 2D [RCV000350307]|not provided [RCV001613220] Chr9:114505311 [GRCh38]
Chr9:117267591 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.-583C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000296886]|Usher syndrome type 2D [RCV000360973] Chr9:114505384 [GRCh38]
Chr9:117267664 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1161G>A (p.Ser387=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000296955]|Usher syndrome type 2D [RCV000335512]|not provided [RCV000934435] Chr9:114426216 [GRCh38]
Chr9:117188496 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2130C>A (p.Gly710=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000400695]|Usher syndrome type 2D [RCV000281837]|WHRN-related disorder [RCV003932510] Chr9:114406461 [GRCh38]
Chr9:117168741 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1227C>T (p.Ala409=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000341331]|Usher syndrome type 2D [RCV000398434]|not provided [RCV001476609] Chr9:114424523 [GRCh38]
Chr9:117186803 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.-608_-601del deletion Hearing loss, autosomal recessive [RCV004577912]|Retinitis pigmentosa-deafness syndrome [RCV000321524]|not provided [RCV001696216] Chr9:114505402..114505409 [GRCh38]
Chr9:117267682..117267689 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.-391C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000283362]|Usher syndrome type 2D [RCV000329023]|not provided [RCV001653747] Chr9:114505192 [GRCh38]
Chr9:117267472 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.2383C>T (p.Arg795Trp) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000299802]|Usher syndrome type 2D [RCV000356989]|not provided [RCV001233964] Chr9:114403931 [GRCh38]
Chr9:117166211 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1160C>T (p.Ser387Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000300563]|Usher syndrome type 2D [RCV000392512]|not provided [RCV005235268] Chr9:114426217 [GRCh38]
Chr9:117188497 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*187A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000319199]|Usher syndrome type 2D [RCV000385389] Chr9:114402567 [GRCh38]
Chr9:117164847 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.690C>T (p.Thr230=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000319764]|Usher syndrome type 2D [RCV000374401]|WHRN-related disorder [RCV004758006]|not provided [RCV003766097]|not specified [RCV000825271] Chr9:114478700 [GRCh38]
Chr9:117240980 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2101G>C (p.Gly701Arg) single nucleotide variant not provided [RCV000308660] Chr9:114406490 [GRCh38]
Chr9:117168770 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.827A>T (p.Asp276Val) single nucleotide variant not provided [RCV000711443] Chr9:114478563 [GRCh38]
Chr9:117240843 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.716C>T (p.Pro239Leu) single nucleotide variant Inborn genetic diseases [RCV002518091]|not provided [RCV000318168] Chr9:114478674 [GRCh38]
Chr9:117240954 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.360C>T (p.Thr120=) single nucleotide variant not provided [RCV000354438] Chr9:114504442 [GRCh38]
Chr9:117266722 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1351G>C (p.Gly451Arg) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000387516]|Usher syndrome type 2D [RCV000276743] Chr9:114424399 [GRCh38]
Chr9:117186679 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168769]|Usher syndrome type 2D [RCV001168768]|not provided [RCV000396458]|not specified [RCV001195590] Chr9:114423485 [GRCh38]
Chr9:117185765 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.933A>C (p.Pro311=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168141]|Usher syndrome type 2D [RCV001168142]|not provided [RCV001610786]|not specified [RCV000398321] Chr9:114466297 [GRCh38]
Chr9:117228577 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) single nucleotide variant not provided [RCV000294957] Chr9:114423467 [GRCh38]
Chr9:117185747 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.*325dup duplication Hearing loss, autosomal recessive [RCV004577911]|Retinitis pigmentosa-deafness syndrome [RCV000267752] Chr9:114402428..114402429 [GRCh38]
Chr9:117164708..117164709 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.310C>G (p.Leu104Val) single nucleotide variant not provided [RCV001367975] Chr9:114504492 [GRCh38]
Chr9:117266772 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1203+20_1203+21dup duplication not provided [RCV001544712] Chr9:114424966..114424967 [GRCh38]
Chr9:117187246..117187247 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.640C>G (p.Leu214Val) single nucleotide variant not specified [RCV000602829] Chr9:114478750 [GRCh38]
Chr9:117241030 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*357C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000303271]|Usher syndrome type 2D [RCV000360314] Chr9:114402397 [GRCh38]
Chr9:117164677 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*554C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000347602]|Usher syndrome type 2D [RCV000391934] Chr9:114402200 [GRCh38]
Chr9:117164480 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1683C>T (p.Leu561=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000385725]|Usher syndrome type 2D [RCV000319557] Chr9:114407962 [GRCh38]
Chr9:117170242 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1014A>G (p.Leu338=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000362905]|Usher syndrome type 2D [RCV000308268] Chr9:114426363 [GRCh38]
Chr9:117188643 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*633T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000391923]|Usher syndrome type 2D [RCV000309193] Chr9:114402121 [GRCh38]
Chr9:117164401 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-581C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000356209]|Usher syndrome type 2D [RCV000407589] Chr9:114505382 [GRCh38]
Chr9:117267662 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-483G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000289293]|Usher syndrome type 2D [RCV000383701] Chr9:114505284 [GRCh38]
Chr9:117267564 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1596C>T (p.His532=) single nucleotide variant not provided [RCV001446734]|not specified [RCV000600361] Chr9:114423344 [GRCh38]
Chr9:117185624 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.-517C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000407591]|Usher syndrome type 2D [RCV000301512] Chr9:114505318 [GRCh38]
Chr9:117267598 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2381C>T (p.Pro794Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000313116]|Autosomal recessive nonsyndromic hearing loss 31 [RCV005044595]|Usher syndrome type 2D [RCV000404148] Chr9:114403933 [GRCh38]
Chr9:117166213 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-499G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000400456]|Usher syndrome type 2D [RCV000344616] Chr9:114505300 [GRCh38]
Chr9:117267580 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1969G>C (p.Ala657Pro) single nucleotide variant not provided [RCV000592792] Chr9:114406622 [GRCh38]
Chr9:117168902 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1049G>A (p.Arg350Gln) single nucleotide variant not provided [RCV000732126] Chr9:114426328 [GRCh38]
Chr9:117188608 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1757C>T (p.Pro586Leu) single nucleotide variant not provided [RCV000734010] Chr9:114406834 [GRCh38]
Chr9:117169114 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) single nucleotide variant Aland island eye disease [RCV000787901]|Retinal dystrophy [RCV004817963]|not provided [RCV000734684]|not specified [RCV003987689] Chr9:114406741 [GRCh38]
Chr9:117169021 [GRCh37]
Chr9:9q32		 likely pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 copy number loss See cases [RCV000449308] Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 copy number loss See cases [RCV000447763] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NM_015404.4(WHRN):c.2219C>T (p.Ala740Val) single nucleotide variant not provided [RCV000481521] Chr9:114406372 [GRCh38]
Chr9:117168652 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.856dup (p.Asp286fs) duplication Autosomal recessive nonsyndromic hearing loss 31 [RCV002496863]|not provided [RCV000480201] Chr9:114466373..114466374 [GRCh38]
Chr9:117228653..117228654 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_015404.4(WHRN):c.837+1del deletion not specified [RCV000506705] Chr9:114478552 [GRCh38]
Chr9:117240832 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.321C>G (p.Asp107Glu) single nucleotide variant not specified [RCV000507623] Chr9:114504481 [GRCh38]
Chr9:117266761 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 copy number loss See cases [RCV000511049] Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2		 pathogenic
NM_015404.4(WHRN):c.1611C>T (p.Thr537=) single nucleotide variant not provided [RCV000913917]|not specified [RCV000600649] Chr9:114423329 [GRCh38]
Chr9:117185609 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1126G>T (p.Ala376Ser) single nucleotide variant not provided [RCV000977705]|not specified [RCV000607742] Chr9:114426251 [GRCh38]
Chr9:117188531 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_015404.4(WHRN):c.-34C>T single nucleotide variant not provided [RCV001718984] Chr9:114504835 [GRCh38]
Chr9:117267115 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2364G>T (p.Arg788Ser) single nucleotide variant not specified [RCV000615245] Chr9:114403950 [GRCh38]
Chr9:117166230 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.14T>C (p.Leu5Pro) single nucleotide variant not specified [RCV000615264] Chr9:114504788 [GRCh38]
Chr9:117267068 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2621G>C (p.Gly874Ala) single nucleotide variant not specified [RCV000612579] Chr9:114402857 [GRCh38]
Chr9:117165137 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1251C>T (p.Ser417=) single nucleotide variant not specified [RCV000612855] Chr9:114424499 [GRCh38]
Chr9:117186779 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.139A>G (p.Thr47Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168206]|Usher syndrome type 2D [RCV001168205]|not provided [RCV001067423]|not specified [RCV000613409] Chr9:114504663 [GRCh38]
Chr9:117266943 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.1381A>C (p.Met461Leu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165877]|Usher syndrome type 2D [RCV001165878]|not provided [RCV001049406]|not specified [RCV000611623] Chr9:114424369 [GRCh38]
Chr9:117186649 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) single nucleotide variant not provided [RCV000597203] Chr9:114408013 [GRCh38]
Chr9:117170293 [GRCh37]
Chr9:9q32		 conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.2484C>T (p.Ile828=) single nucleotide variant not provided [RCV001472204]|not specified [RCV000611882] Chr9:114403274 [GRCh38]
Chr9:117165554 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2073C>T (p.Ser691=) single nucleotide variant not provided [RCV001441063]|not specified [RCV000605881] Chr9:114406518 [GRCh38]
Chr9:117168798 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.406G>A (p.Gly136Arg) single nucleotide variant not provided [RCV000594901] Chr9:114504396 [GRCh38]
Chr9:117266676 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) deletion Deafness [RCV000679848]|Hearing loss, autosomal recessive [RCV001291498] Chr9:114403925..114403926 [GRCh38]
Chr9:117166205..117166206 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_015404.4(WHRN):c.958C>T (p.Leu320Phe) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168139]|Inborn genetic diseases [RCV004030260]|Usher syndrome type 2D [RCV001168140]|not provided [RCV001052821]|not specified [RCV001000529] Chr9:114466272 [GRCh38]
Chr9:117228552 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 copy number loss not provided [RCV000748606] Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3		 pathogenic
GRCh37/hg19 9q32(chr9:117054195-117502242)x3 copy number gain not provided [RCV000748633] Chr9:117054195..117502242 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.1870C>T (p.Pro624Ser) single nucleotide variant not provided [RCV001585152] Chr9:114406721 [GRCh38]
Chr9:117169001 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1074C>T (p.Asp358=) single nucleotide variant not provided [RCV000936406] Chr9:114426303 [GRCh38]
Chr9:117188583 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2611A>G (p.Thr871Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005040326]|not provided [RCV001574538] Chr9:114402867 [GRCh38]
Chr9:117165147 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.696C>T (p.His232=) single nucleotide variant not provided [RCV001577343] Chr9:114478694 [GRCh38]
Chr9:117240974 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.664G>A (p.Gly222Arg) single nucleotide variant not provided [RCV001057213] Chr9:114478726 [GRCh38]
Chr9:117241006 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.724C>T (p.Arg242Cys) single nucleotide variant Retinal dystrophy [RCV004813647]|not provided [RCV001057547] Chr9:114478666 [GRCh38]
Chr9:117240946 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2474C>G (p.Thr825Ser) single nucleotide variant Inborn genetic diseases [RCV002573319]|not provided [RCV001583617] Chr9:114403284 [GRCh38]
Chr9:117165564 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1965C>T (p.Ser655=) single nucleotide variant not provided [RCV000942951] Chr9:114406626 [GRCh38]
Chr9:117168906 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2061G>A (p.Pro687=) single nucleotide variant not provided [RCV000926081] Chr9:114406530 [GRCh38]
Chr9:117168810 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1627-868_2312del deletion not provided [RCV001037400] Chr9:114404002..114408886 [GRCh38]
Chr9:117166282..117171166 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2246C>T (p.Thr749Met) single nucleotide variant not provided [RCV001037526] Chr9:114404068 [GRCh38]
Chr9:117166348 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1348C>A (p.Arg450Ser) single nucleotide variant not provided [RCV001066971] Chr9:114424402 [GRCh38]
Chr9:117186682 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1681C>T (p.Leu561Phe) single nucleotide variant not provided [RCV001067232] Chr9:114407964 [GRCh38]
Chr9:117170244 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1676A>G (p.Asn559Ser) single nucleotide variant Retinal dystrophy [RCV004813624]|not provided [RCV001052820] Chr9:114407969 [GRCh38]
Chr9:117170249 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2309A>T (p.Glu770Val) single nucleotide variant not provided [RCV001035337] Chr9:114404005 [GRCh38]
Chr9:117166285 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.314T>C (p.Leu105Pro) single nucleotide variant not provided [RCV001043008] Chr9:114504488 [GRCh38]
Chr9:117266768 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001169714]|Usher syndrome type 2D [RCV001169713]|WHRN-related disorder [RCV003975338]|not provided [RCV001510640]|not specified [RCV000825268] Chr9:114403930 [GRCh38]
Chr9:117166210 [GRCh37]
Chr9:9q32		 benign|likely benign|uncertain significance
NM_015404.4(WHRN):c.2455G>A (p.Val819Met) single nucleotide variant not specified [RCV000825270] Chr9:114403303 [GRCh38]
Chr9:117165583 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2345C>A (p.Ser782Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005047031] Chr9:114403969 [GRCh38]
Chr9:117166249 [GRCh37]
Chr9:9q32		 likely pathogenic|uncertain significance
NM_015404.4(WHRN):c.2093T>A (p.Val698Glu) single nucleotide variant not provided [RCV000940050] Chr9:114406498 [GRCh38]
Chr9:117168778 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity
NM_015404.4(WHRN):c.1278G>A (p.Leu426=) single nucleotide variant not provided [RCV000908479] Chr9:114424472 [GRCh38]
Chr9:117186752 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1620G>T (p.Ser540=) single nucleotide variant not provided [RCV000918287] Chr9:114423320 [GRCh38]
Chr9:117185600 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV000770887]|not provided [RCV001855734] Chr9:114504776 [GRCh38]
Chr9:117267056 [GRCh37]
Chr9:9q32		 pathogenic
GRCh37/hg19 9q32(chr9:116642144-117613527)x1 copy number loss not provided [RCV001006255] Chr9:116642144..117613527 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2655C>T (p.Ala885=) single nucleotide variant not provided [RCV000839974] Chr9:114402823 [GRCh38]
Chr9:117165103 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1416+151A>G single nucleotide variant not provided [RCV000838416] Chr9:114424183 [GRCh38]
Chr9:117186463 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1417-224A>G single nucleotide variant not provided [RCV000838417] Chr9:114423747 [GRCh38]
Chr9:117186027 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2237-190T>C single nucleotide variant not provided [RCV000838419] Chr9:114404267 [GRCh38]
Chr9:117166547 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1677C>T (p.Asn559=) single nucleotide variant not provided [RCV002067411]|not specified [RCV000825269] Chr9:114407968 [GRCh38]
Chr9:117170248 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn) single nucleotide variant not provided [RCV000991890] Chr9:114423372 [GRCh38]
Chr9:117185652 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1698+253_1698+254insTGACTT insertion not provided [RCV000830714] Chr9:114407693..114407694 [GRCh38]
Chr9:117169973..117169974 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1698+292G>T single nucleotide variant not provided [RCV000830715] Chr9:114407655 [GRCh38]
Chr9:117169935 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.963+206G>A single nucleotide variant not provided [RCV000838394] Chr9:114466061 [GRCh38]
Chr9:117228341 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9q32(chr9:116936770-117450535)x3 copy number gain not provided [RCV000848120] Chr9:116936770..117450535 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1167-265C>A single nucleotide variant not provided [RCV000831683] Chr9:114425289 [GRCh38]
Chr9:117187569 [GRCh37]
Chr9:9q32		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.914A>G (p.Tyr305Cys) single nucleotide variant not specified [RCV000826082] Chr9:114466316 [GRCh38]
Chr9:117228596 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2645G>A (p.Arg882His) single nucleotide variant not provided [RCV001230716]|not specified [RCV000826086] Chr9:114402833 [GRCh38]
Chr9:117165113 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 copy number loss not provided [RCV000847543] Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32		 uncertain significance
NM_015404.4(WHRN):c.*583C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165594]|Usher syndrome type 2D [RCV001165593] Chr9:114402171 [GRCh38]
Chr9:117164451 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*438T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165598]|Usher syndrome type 2D [RCV001165597]|not provided [RCV004712978] Chr9:114402316 [GRCh38]
Chr9:117164596 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167835]|Usher syndrome type 2D [RCV001167834]|not provided [RCV001424751] Chr9:114403320 [GRCh38]
Chr9:117165600 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015404.4(WHRN):c.684C>T (p.Tyr228=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166008]|Usher syndrome type 2D [RCV001166009]|not provided [RCV001489244] Chr9:114478706 [GRCh38]
Chr9:117240986 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1725G>A (p.Gly575=) single nucleotide variant not specified [RCV000825272] Chr9:114406866 [GRCh38]
Chr9:117169146 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.324A>G (p.Gln108=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167577]|Usher syndrome type 2D [RCV001167576]|not provided [RCV001295889] Chr9:114504478 [GRCh38]
Chr9:117266758 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.695A>C (p.His232Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168894]|Retinal dystrophy [RCV004813824]|Usher syndrome type 2D [RCV001168895]|not provided [RCV001322337] Chr9:114478695 [GRCh38]
Chr9:117240975 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.634A>G (p.Lys212Glu) single nucleotide variant not provided [RCV001053100] Chr9:114478756 [GRCh38]
Chr9:117241036 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1166G>A (p.Gly389Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168835]|Usher syndrome type 2D [RCV001168834]|not provided [RCV001236567] Chr9:114426211 [GRCh38]
Chr9:117188491 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1999G>A (p.Ala667Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002479331]|not provided [RCV001054503] Chr9:114406592 [GRCh38]
Chr9:117168872 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-305C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166538]|Usher syndrome type 2D [RCV001166539] Chr9:114505106 [GRCh38]
Chr9:117267386 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2612C>T (p.Thr871Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167251]|Usher syndrome type 2D [RCV001167252] Chr9:114402866 [GRCh38]
Chr9:117165146 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2355C>T (p.Thr785=) single nucleotide variant not provided [RCV000919198] Chr9:114403959 [GRCh38]
Chr9:117166239 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1626+199T>C single nucleotide variant not provided [RCV000838382] Chr9:114423115 [GRCh38]
Chr9:117185395 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1699-128T>C single nucleotide variant not provided [RCV000838383] Chr9:114407020 [GRCh38]
Chr9:117169300 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2418+142A>G single nucleotide variant not provided [RCV000838384] Chr9:114403754 [GRCh38]
Chr9:117166034 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1627-10C>A single nucleotide variant not provided [RCV003239146] Chr9:114408028 [GRCh38]
Chr9:117170308 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1167-90G>A single nucleotide variant not provided [RCV000839186] Chr9:114425114 [GRCh38]
Chr9:117187394 [GRCh37]
Chr9:9q32		 benign
NM_015404.2(WHRN):c.-695A>T single nucleotide variant not provided [RCV000836073] Chr9:114505496 [GRCh38]
Chr9:117267776 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.-314C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166542]|Usher syndrome type 2D [RCV001166543] Chr9:114505115 [GRCh38]
Chr9:117267395 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.2419-5C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167838]|Usher syndrome type 2D [RCV001167839] Chr9:114403344 [GRCh38]
Chr9:117165624 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_015404.4(WHRN):c.2665A>G (p.Lys889Glu) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165656]|Usher syndrome type 2D [RCV001165655]|not provided [RCV001236783] Chr9:114402813 [GRCh38]
Chr9:117165093 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1597G>A (p.Gly533Ser) single nucleotide variant not provided [RCV001054502] Chr9:114423343 [GRCh38]
Chr9:117185623 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2236+6T>A single nucleotide variant not provided [RCV001214012] Chr9:114406349 [GRCh38]
Chr9:117168629 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.964-4_964-3delinsTT indel not provided [RCV001202399] Chr9:114426416..114426417 [GRCh38]
Chr9:117188696..117188697 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2290A>G (p.Ser764Gly) single nucleotide variant not provided [RCV001233245] Chr9:114404024 [GRCh38]
Chr9:117166304 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.113A>G (p.Asn38Ser) single nucleotide variant not provided [RCV001202965] Chr9:114504689 [GRCh38]
Chr9:117266969 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.368G>A (p.Arg123Lys) single nucleotide variant not provided [RCV001242871] Chr9:114504434 [GRCh38]
Chr9:117266714 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2571G>T (p.Gln857His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002480777]|Inborn genetic diseases [RCV002563909]|not provided [RCV001238211] Chr9:114402907 [GRCh38]
Chr9:117165187 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1543G>A (p.Asp515Asn) single nucleotide variant not provided [RCV001238267] Chr9:114423397 [GRCh38]
Chr9:117185677 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1766C>T (p.Ala589Val) single nucleotide variant not provided [RCV001225365] Chr9:114406825 [GRCh38]
Chr9:117169105 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1879C>T (p.Arg627Cys) single nucleotide variant not provided [RCV001246057] Chr9:114406712 [GRCh38]
Chr9:117168992 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2323G>A (p.Ala775Thr) single nucleotide variant not provided [RCV001247166] Chr9:114403991 [GRCh38]
Chr9:117166271 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.362C>G (p.Pro121Arg) single nucleotide variant not provided [RCV001247571] Chr9:114504440 [GRCh38]
Chr9:117266720 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*126C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167761]|Usher syndrome type 2D [RCV001167760] Chr9:114402628 [GRCh38]
Chr9:117164908 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2231C>T (p.Thr744Met) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167915]|Usher syndrome type 2D [RCV001167914]|not provided [RCV001230012] Chr9:114406360 [GRCh38]
Chr9:117168640 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*495T>C single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165596]|Usher syndrome type 2D [RCV001165595] Chr9:114402259 [GRCh38]
Chr9:117164539 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-505C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168282]|Usher syndrome type 2D [RCV001168281] Chr9:114505306 [GRCh38]
Chr9:117267586 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1555A>G (p.Met519Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168766]|Usher syndrome type 2D [RCV001168767]|not provided [RCV001873560] Chr9:114423385 [GRCh38]
Chr9:117185665 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.762C>T (p.His254=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168893]|Usher syndrome type 2D [RCV001168892]|WHRN-related disorder [RCV003953560]|not provided [RCV001404462] Chr9:114478628 [GRCh38]
Chr9:117240908 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.-570C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001169020]|Usher syndrome type 2D [RCV001169019] Chr9:114505371 [GRCh38]
Chr9:117267651 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1960G>A (p.Val654Ile) single nucleotide variant not provided [RCV001202047] Chr9:114406631 [GRCh38]
Chr9:117168911 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1166+191A>G single nucleotide variant not provided [RCV001576633] Chr9:114426020 [GRCh38]
Chr9:117188300 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.257T>C (p.Val86Ala) single nucleotide variant not provided [RCV003107255] Chr9:114504545 [GRCh38]
Chr9:117266825 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1122G>A (p.Trp374Ter) single nucleotide variant not provided [RCV004812795] Chr9:114426255 [GRCh38]
Chr9:117188535 [GRCh37]
Chr9:9q32		 likely pathogenic
NC_000009.12:g.114505662G>T single nucleotide variant not provided [RCV001678992] Chr9:114505662 [GRCh38]
Chr9:117267942 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.619-54C>T single nucleotide variant not provided [RCV001560465] Chr9:114478825 [GRCh38]
Chr9:117241105 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.618+125_618+126del deletion not provided [RCV001534257] Chr9:114504058..114504059 [GRCh38]
Chr9:117266338..117266339 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.618+126del deletion not provided [RCV001684743] Chr9:114504058 [GRCh38]
Chr9:117266338 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.837+190A>G single nucleotide variant not provided [RCV001570082] Chr9:114478363 [GRCh38]
Chr9:117240643 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.963+280dup duplication not provided [RCV001567963] Chr9:114465986..114465987 [GRCh38]
Chr9:117228266..117228267 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1166+43A>T single nucleotide variant not provided [RCV001614822] Chr9:114426168 [GRCh38]
Chr9:117188448 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1626+287del deletion not provided [RCV001670994] Chr9:114423027 [GRCh38]
Chr9:117185307 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.255G>A (p.Pro85=) single nucleotide variant WHRN-related disorder [RCV003906032]|not provided [RCV000971910] Chr9:114504547 [GRCh38]
Chr9:117266827 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.792C>T (p.Asp264=) single nucleotide variant not provided [RCV000976174] Chr9:114478598 [GRCh38]
Chr9:117240878 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.156G>A (p.Glu52=) single nucleotide variant not provided [RCV000978440] Chr9:114504646 [GRCh38]
Chr9:117266926 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1988G>A (p.Arg663Lys) single nucleotide variant not provided [RCV001244398] Chr9:114406603 [GRCh38]
Chr9:117168883 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1389G>T (p.Leu463=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165875]|Usher syndrome type 2D [RCV001165876]|not provided [RCV002068009] Chr9:114424361 [GRCh38]
Chr9:117186641 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1698G>A (p.Val566=) single nucleotide variant not provided [RCV001245532] Chr9:114407947 [GRCh38]
Chr9:117170227 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-595G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166116]|Usher syndrome type 2D [RCV001166117] Chr9:114505396 [GRCh38]
Chr9:117267676 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-310G>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166540]|Usher syndrome type 2D [RCV001166541] Chr9:114505111 [GRCh38]
Chr9:117267391 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.587T>C (p.Leu196Pro) single nucleotide variant not provided [RCV001227381] Chr9:114504215 [GRCh38]
Chr9:117266495 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.643G>A (p.Val215Met) single nucleotide variant not provided [RCV001241413] Chr9:114478747 [GRCh38]
Chr9:117241027 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1385C>T (p.Ala462Val) single nucleotide variant not provided [RCV001227657] Chr9:114424365 [GRCh38]
Chr9:117186645 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2509C>T (p.Arg837Cys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167254]|Usher syndrome type 2D [RCV001167253] Chr9:114403249 [GRCh38]
Chr9:117165529 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1534G>A (p.Gly512Arg) single nucleotide variant not provided [RCV001244089] Chr9:114423406 [GRCh38]
Chr9:117185686 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2418G>A (p.Pro806=) single nucleotide variant not provided [RCV001244012] Chr9:114403896 [GRCh38]
Chr9:117166176 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2237-8C>T single nucleotide variant not provided [RCV000913568] Chr9:114404085 [GRCh38]
Chr9:117166365 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1533C>T (p.Pro511=) single nucleotide variant not provided [RCV000912540] Chr9:114423407 [GRCh38]
Chr9:117185687 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.769G>T (p.Ala257Ser) single nucleotide variant Retinal dystrophy [RCV004815797] Chr9:114478621 [GRCh38]
Chr9:117240901 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1166+23A>G single nucleotide variant not provided [RCV001547908] Chr9:114426188 [GRCh38]
Chr9:117188468 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2541+134C>T single nucleotide variant not provided [RCV001557194] Chr9:114403083 [GRCh38]
Chr9:114403083..114403084 [GRCh38]
Chr9:117165363 [GRCh37]
Chr9:117165363..117165364 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1713C>T (p.Ser571=) single nucleotide variant not provided [RCV001560785] Chr9:114406878 [GRCh38]
Chr9:117169158 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1537G>T (p.Ala513Ser) single nucleotide variant not provided [RCV001060815] Chr9:114423403 [GRCh38]
Chr9:117185683 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2618G>A (p.Arg873Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002482066]|not provided [RCV001062752] Chr9:114402860 [GRCh38]
Chr9:117165140 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2247G>A (p.Thr749=) single nucleotide variant not provided [RCV001724910] Chr9:114404067 [GRCh38]
Chr9:117166347 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1416+22A>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001658334]|not provided [RCV001614647] Chr9:114424312 [GRCh38]
Chr9:117186592 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2419-118G>A single nucleotide variant not provided [RCV001644062] Chr9:114403457 [GRCh38]
Chr9:117165737 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1204-33G>A single nucleotide variant not provided [RCV001584927] Chr9:114424579 [GRCh38]
Chr9:117186859 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.619-66G>T single nucleotide variant not provided [RCV001690425] Chr9:114478837 [GRCh38]
Chr9:117241117 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2390A>G (p.Glu797Gly) single nucleotide variant not provided [RCV001070023] Chr9:114403924 [GRCh38]
Chr9:117166204 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.963+315G>C single nucleotide variant not provided [RCV001709127] Chr9:114465952 [GRCh38]
Chr9:117228232 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.2045G>C (p.Arg682Pro) single nucleotide variant not provided [RCV001232967] Chr9:114406546 [GRCh38]
Chr9:117168826 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1670A>G (p.Asn557Ser) single nucleotide variant not provided [RCV001206119] Chr9:114407975 [GRCh38]
Chr9:117170255 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1930G>A (p.Asp644Asn) single nucleotide variant not provided [RCV001048719] Chr9:114406661 [GRCh38]
Chr9:117168941 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*613A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001169571]|Usher syndrome type 2D [RCV001169572] Chr9:114402141 [GRCh38]
Chr9:117164421 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*339C>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167185]|Usher syndrome type 2D [RCV001167186] Chr9:114402415 [GRCh38]
Chr9:117164695 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2187del (p.Asp730fs) deletion not provided [RCV001233529] Chr9:114406404 [GRCh38]
Chr9:117168684 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.*175C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167759]|Usher syndrome type 2D [RCV001167758] Chr9:114402579 [GRCh38]
Chr9:117164859 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1072G>A (p.Asp358Asn) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167515]|Usher syndrome type 2D [RCV001167516]|not provided [RCV001303970] Chr9:114426305 [GRCh38]
Chr9:117188585 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1627-7T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167989]|Usher syndrome type 2D [RCV001167990] Chr9:114408025 [GRCh38]
Chr9:117170305 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1784C>A (p.Pro595Gln) single nucleotide variant not provided [RCV001049817] Chr9:114406807 [GRCh38]
Chr9:117169087 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.553_565del (p.Gly185fs) deletion not provided [RCV001233795] Chr9:114504237..114504249 [GRCh38]
Chr9:117266517..117266529 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2461A>C (p.Lys821Gln) single nucleotide variant not provided [RCV001208492] Chr9:114403297 [GRCh38]
Chr9:117165577 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.559C>T (p.Gln187Ter) single nucleotide variant not provided [RCV001208612] Chr9:114504243 [GRCh38]
Chr9:117266523 [GRCh37]
Chr9:9q32		 pathogenic|likely pathogenic
NM_015404.4(WHRN):c.1228G>A (p.Gly410Ser) single nucleotide variant not provided [RCV001206050] Chr9:114424522 [GRCh38]
Chr9:117186802 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2554G>A (p.Ala852Thr) single nucleotide variant not provided [RCV001233417] Chr9:114402924 [GRCh38]
Chr9:117165204 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.489C>T (p.Gly163=) single nucleotide variant not provided [RCV001232521] Chr9:114504313 [GRCh38]
Chr9:117266593 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1929G>A (p.Gln643=) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165804]|Usher syndrome type 2D [RCV001165803] Chr9:114406662 [GRCh38]
Chr9:117168942 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1909C>A (p.Pro637Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165805]|Usher syndrome type 2D [RCV001165806]|not provided [RCV001859068] Chr9:114406682 [GRCh38]
Chr9:117168962 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.680G>T (p.Gly227Val) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166011]|Usher syndrome type 2D [RCV001166010] Chr9:114478710 [GRCh38]
Chr9:117240990 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2348T>A (p.Val783Glu) single nucleotide variant not provided [RCV001248312] Chr9:114403966 [GRCh38]
Chr9:117166246 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2340G>T (p.Arg780Ser) single nucleotide variant not provided [RCV001213310] Chr9:114403974 [GRCh38]
Chr9:117166254 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2678G>A (p.Arg893His) single nucleotide variant not provided [RCV001231708] Chr9:114402800 [GRCh38]
Chr9:117165080 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.164G>C (p.Arg55Pro) single nucleotide variant Usher syndrome type 2D [RCV001029765]|not provided [RCV001227462] Chr9:114504638 [GRCh38]
Chr9:117266918 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001167912]|Usher syndrome type 2D [RCV001167913]|not provided [RCV001859087]|not specified [RCV003490096] Chr9:114406357 [GRCh38]
Chr9:117168637 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1653C>T (p.Gly551=) single nucleotide variant not provided [RCV001038322] Chr9:114407992 [GRCh38]
Chr9:117170272 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.-92C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001168960]|Usher syndrome type 2D [RCV001168961] Chr9:114504893 [GRCh38]
Chr9:117267173 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2653G>A (p.Ala885Thr) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165657]|Usher syndrome type 2D [RCV001165658]|not provided [RCV001368595] Chr9:114402825 [GRCh38]
Chr9:117165105 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2633G>A (p.Arg878Gln) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001165662]|Usher syndrome type 2D [RCV001165661]|not provided [RCV001324966] Chr9:114402845 [GRCh38]
Chr9:117165125 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1903C>T (p.Pro635Ser) single nucleotide variant not provided [RCV001063739] Chr9:114406688 [GRCh38]
Chr9:117168968 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.-204C>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001166063]|Usher syndrome type 2D [RCV001166062]|not provided [RCV001655691] Chr9:114505005 [GRCh38]
Chr9:117267285 [GRCh37]
Chr9:9q32		 benign|uncertain significance
NM_015404.4(WHRN):c.592C>T (p.Arg198Trp) single nucleotide variant not provided [RCV001211355] Chr9:114504210 [GRCh38]
Chr9:117266490 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2690A>C (p.Asp897Ala) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001253900]|Usher syndrome type 2D [RCV001253901]|not provided [RCV001879875] Chr9:114402788 [GRCh38]
Chr9:117165068 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.*51C>T single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001253896]|Usher syndrome type 2D [RCV001253897]|not provided [RCV001587292] Chr9:114402703 [GRCh38]
Chr9:117164983 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.*29T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001253898]|Usher syndrome type 2D [RCV001253899] Chr9:114402725 [GRCh38]
Chr9:117165005 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.963+180A>G single nucleotide variant not provided [RCV001545984] Chr9:114466087 [GRCh38]
Chr9:117228367 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1468C>T (p.Arg490Cys) single nucleotide variant not provided [RCV001301049] Chr9:114423472 [GRCh38]
Chr9:117185752 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2207A>G (p.Asn736Ser) single nucleotide variant not provided [RCV001315889] Chr9:114406384 [GRCh38]
Chr9:117168664 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2173G>A (p.Glu725Lys) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002493564]|not provided [RCV001297409] Chr9:114406418 [GRCh38]
Chr9:117168698 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1238T>A (p.Val413Glu) single nucleotide variant not provided [RCV001326958] Chr9:114424512 [GRCh38]
Chr9:117186792 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1054C>T (p.Leu352Phe) single nucleotide variant not provided [RCV001300815] Chr9:114426323 [GRCh38]
Chr9:117188603 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2194G>A (p.Glu732Lys) single nucleotide variant not provided [RCV001320512] Chr9:114406397 [GRCh38]
Chr9:117168677 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.506C>G (p.Ser169Cys) single nucleotide variant not provided [RCV001305967] Chr9:114504296 [GRCh38]
Chr9:117266576 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg) single nucleotide variant not provided [RCV001348923]|not specified [RCV003155399] Chr9:114403218 [GRCh38]
Chr9:117165498 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2641G>A (p.Ala881Thr) single nucleotide variant not provided [RCV001309698] Chr9:114402837 [GRCh38]
Chr9:117165117 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1850C>G (p.Ser617Trp) single nucleotide variant not provided [RCV001321291] Chr9:114406741 [GRCh38]
Chr9:117169021 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2291G>A (p.Ser764Asn) single nucleotide variant not provided [RCV001309062] Chr9:114404023 [GRCh38]
Chr9:117166303 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.603C>A (p.His201Gln) single nucleotide variant not provided [RCV001320557] Chr9:114504199 [GRCh38]
Chr9:117266479 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1096C>G (p.Arg366Gly) single nucleotide variant not provided [RCV001295427] Chr9:114426281 [GRCh38]
Chr9:117188561 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.703A>G (p.Thr235Ala) single nucleotide variant not provided [RCV001318955] Chr9:114478687 [GRCh38]
Chr9:117240967 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1453C>T (p.Pro485Ser) single nucleotide variant not provided [RCV001319042] Chr9:114423487 [GRCh38]
Chr9:117185767 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1966C>T (p.Pro656Ser) single nucleotide variant not provided [RCV001340566] Chr9:114406625 [GRCh38]
Chr9:117168905 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2686A>G (p.Ile896Val) single nucleotide variant not provided [RCV001324487] Chr9:114402792 [GRCh38]
Chr9:117165072 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1449T>A (p.Ile483=) single nucleotide variant not provided [RCV001392505] Chr9:114423491 [GRCh38]
Chr9:117185771 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1979G>A (p.Ser660Asn) single nucleotide variant not provided [RCV001297200] Chr9:114406612 [GRCh38]
Chr9:117168892 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.856G>A (p.Asp286Asn) single nucleotide variant not provided [RCV001361334] Chr9:114466374 [GRCh38]
Chr9:117228654 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2485G>T (p.Ala829Ser) single nucleotide variant not provided [RCV001373272] Chr9:114403273 [GRCh38]
Chr9:117165553 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.618+20A>C single nucleotide variant not provided [RCV001396536] Chr9:114504164 [GRCh38]
Chr9:117266444 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.612C>A (p.Ala204=) single nucleotide variant not provided [RCV001397385] Chr9:114504190 [GRCh38]
Chr9:117266470 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2469G>A (p.Ala823=) single nucleotide variant not provided [RCV001423001] Chr9:114403289 [GRCh38]
Chr9:117165569 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2307C>T (p.Gly769=) single nucleotide variant Hearing impairment [RCV001375202]|not provided [RCV001427471] Chr9:114404007 [GRCh38]
Chr9:117166287 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-5G>T single nucleotide variant not provided [RCV001413262] Chr9:114466397 [GRCh38]
Chr9:117228677 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1482G>T (p.Leu494=) single nucleotide variant not provided [RCV001433067] Chr9:114423458 [GRCh38]
Chr9:117185738 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1017C>T (p.His339=) single nucleotide variant not provided [RCV001433876] Chr9:114426360 [GRCh38]
Chr9:117188640 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1959C>T (p.Ser653=) single nucleotide variant WHRN-related disorder [RCV003973253]|not provided [RCV001414446] Chr9:114406632 [GRCh38]
Chr9:117168912 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2070A>G (p.Lys690=) single nucleotide variant not provided [RCV001304342] Chr9:114406521 [GRCh38]
Chr9:117168801 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.49T>C (p.Ser17Pro) single nucleotide variant not provided [RCV001295066] Chr9:114504753 [GRCh38]
Chr9:117267033 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1017C>G (p.His339Gln) single nucleotide variant not provided [RCV001344657] Chr9:114426360 [GRCh38]
Chr9:117188640 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1880G>T (p.Arg627Leu) single nucleotide variant not provided [RCV001364249] Chr9:114406711 [GRCh38]
Chr9:117168991 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.131A>G (p.Gln44Arg) single nucleotide variant not provided [RCV001315578] Chr9:114504671 [GRCh38]
Chr9:117266951 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.533A>C (p.Glu178Ala) single nucleotide variant not provided [RCV001300032] Chr9:114504269 [GRCh38]
Chr9:117266549 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.743C>T (p.Ser248Leu) single nucleotide variant not provided [RCV001301610] Chr9:114478647 [GRCh38]
Chr9:117240927 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2000C>T (p.Ala667Val) single nucleotide variant not provided [RCV001318698] Chr9:114406591 [GRCh38]
Chr9:117168871 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2062C>T (p.His688Tyr) single nucleotide variant not provided [RCV001345932] Chr9:114406529 [GRCh38]
Chr9:117168809 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.23_26dup (p.Ser11fs) duplication not provided [RCV005075889] Chr9:114504775..114504776 [GRCh38]
Chr9:117267055..117267056 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1193G>A (p.Gly398Glu) single nucleotide variant not provided [RCV001315951] Chr9:114424998 [GRCh38]
Chr9:117187278 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1474G>A (p.Asp492Asn) single nucleotide variant not provided [RCV001318938] Chr9:114423466 [GRCh38]
Chr9:117185746 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1040A>T (p.Lys347Met) single nucleotide variant not provided [RCV001301905] Chr9:114426337 [GRCh38]
Chr9:117188617 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2620G>A (p.Gly874Ser) single nucleotide variant not provided [RCV001297430] Chr9:114402858 [GRCh38]
Chr9:117165138 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.508C>G (p.Leu170Val) single nucleotide variant Hearing impairment [RCV001375419]|not provided [RCV001871975] Chr9:114504294 [GRCh38]
Chr9:117266574 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1865C>T (p.Ser622Leu) single nucleotide variant not provided [RCV001316862] Chr9:114406726 [GRCh38]
Chr9:117169006 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1886C>T (p.Pro629Leu) single nucleotide variant not provided [RCV001314986] Chr9:114406705 [GRCh38]
Chr9:117168985 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2567G>T (p.Gly856Val) single nucleotide variant not provided [RCV001341257] Chr9:114402911 [GRCh38]
Chr9:117165191 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2677C>T (p.Arg893Cys) single nucleotide variant not provided [RCV001322375] Chr9:114402801 [GRCh38]
Chr9:117165081 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.350C>T (p.Pro117Leu) single nucleotide variant not provided [RCV001347574] Chr9:114504452 [GRCh38]
Chr9:117266732 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2548G>A (p.Gly850Ser) single nucleotide variant not provided [RCV001337308] Chr9:114402930 [GRCh38]
Chr9:117165210 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1863_1865del (p.Phe621_Ser622delinsLeu) deletion not provided [RCV001345467] Chr9:114406726..114406728 [GRCh38]
Chr9:117169006..117169008 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2308G>A (p.Glu770Lys) single nucleotide variant not provided [RCV001364315] Chr9:114404006 [GRCh38]
Chr9:117166286 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.140C>T (p.Thr47Ile) single nucleotide variant not provided [RCV001326043] Chr9:114504662 [GRCh38]
Chr9:117266942 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1143G>C (p.Arg381Ser) single nucleotide variant not provided [RCV001308272] Chr9:114426234 [GRCh38]
Chr9:117188514 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2492A>G (p.Glu831Gly) single nucleotide variant not provided [RCV001301263] Chr9:114403266 [GRCh38]
Chr9:117165546 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.376G>A (p.Ala126Thr) single nucleotide variant not provided [RCV001318082]|not specified [RCV001449730] Chr9:114504426 [GRCh38]
Chr9:117266706 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2240C>A (p.Ala747Asp) single nucleotide variant not provided [RCV001366517] Chr9:114404074 [GRCh38]
Chr9:117166354 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1831T>A (p.Ser611Thr) single nucleotide variant not provided [RCV001367095] Chr9:114406760 [GRCh38]
Chr9:117169040 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1136G>A (p.Arg379Gln) single nucleotide variant not provided [RCV001316370] Chr9:114426241 [GRCh38]
Chr9:117188521 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1139T>C (p.Ile380Thr) single nucleotide variant not provided [RCV001352592] Chr9:114426238 [GRCh38]
Chr9:117188518 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1488G>A (p.Leu496=) single nucleotide variant not provided [RCV001413753] Chr9:114423452 [GRCh38]
Chr9:117185732 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.55G>T (p.Gly19Cys) single nucleotide variant not provided [RCV001339159] Chr9:114504747 [GRCh38]
Chr9:117267027 [GRCh37]
Chr9:9q32		 uncertain significance
NC_000009.11:g.(?_116956664)_(117267081_?)dup duplication not provided [RCV001339460] Chr9:116956664..117267081 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2182C>T (p.Arg728Cys) single nucleotide variant not provided [RCV001339786] Chr9:114406409 [GRCh38]
Chr9:117168689 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.858C>T (p.Asp286=) single nucleotide variant not provided [RCV001441044] Chr9:114466372 [GRCh38]
Chr9:117228652 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2268C>T (p.Ser756=) single nucleotide variant not provided [RCV001490395] Chr9:114404046 [GRCh38]
Chr9:117166326 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1417-9C>T single nucleotide variant not provided [RCV001404744] Chr9:114423532 [GRCh38]
Chr9:117185812 [GRCh37]
Chr9:9q32		 likely benign
NC_000009.11:g.(?_117166282)_117171166del deletion not provided [RCV001377720]   likely pathogenic
NM_015404.4(WHRN):c.2202C>T (p.Asp734=) single nucleotide variant WHRN-related disorder [RCV003931005]|not provided [RCV001487724] Chr9:114406389 [GRCh38]
Chr9:117168669 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2541+13G>A single nucleotide variant not provided [RCV001499122] Chr9:114403204 [GRCh38]
Chr9:117165484 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.606G>T (p.Ala202=) single nucleotide variant not provided [RCV001465169] Chr9:114504196 [GRCh38]
Chr9:117266476 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2631C>T (p.His877=) single nucleotide variant not provided [RCV001476743] Chr9:114402847 [GRCh38]
Chr9:117165127 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2348_2349inv (p.Val783Ala) inversion not provided [RCV001496939] Chr9:114403965..114403966 [GRCh38]
Chr9:117166245..117166246 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.963+9G>C single nucleotide variant not provided [RCV001428600] Chr9:114466258 [GRCh38]
Chr9:117228538 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1029C>A (p.Val343=) single nucleotide variant WHRN-related disorder [RCV003930954]|not provided [RCV001454885] Chr9:114426348 [GRCh38]
Chr9:117188628 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1573_1574del (p.Thr525fs) microsatellite not provided [RCV001388090] Chr9:114423366..114423367 [GRCh38]
Chr9:117185646..117185647 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.735C>T (p.Ser245=) single nucleotide variant not provided [RCV001471750] Chr9:114478655 [GRCh38]
Chr9:117240935 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2236+84G>T single nucleotide variant not provided [RCV001537212] Chr9:114406271 [GRCh38]
Chr9:117168551 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.816G>A (p.Leu272=) single nucleotide variant not provided [RCV001506545] Chr9:114478574 [GRCh38]
Chr9:117240854 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.837+9G>A single nucleotide variant not provided [RCV001474836] Chr9:114478544 [GRCh38]
Chr9:117240824 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.399G>C (p.Ala133=) single nucleotide variant not provided [RCV001493702] Chr9:114504403 [GRCh38]
Chr9:117266683 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2499C>T (p.Gly833=) single nucleotide variant not provided [RCV001497977] Chr9:114403259 [GRCh38]
Chr9:117165539 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2616T>G (p.Leu872=) single nucleotide variant not provided [RCV001498017] Chr9:114402862 [GRCh38]
Chr9:117165142 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2118A>G (p.Pro706=) single nucleotide variant not provided [RCV001418603] Chr9:114406473 [GRCh38]
Chr9:117168753 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2010C>G (p.Ala670=) single nucleotide variant not provided [RCV001444155] Chr9:114406581 [GRCh38]
Chr9:117168861 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-9C>T single nucleotide variant not provided [RCV001444161] Chr9:114466401 [GRCh38]
Chr9:117228681 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1860C>T (p.Val620=) single nucleotide variant not provided [RCV001444434] Chr9:114406731 [GRCh38]
Chr9:117169011 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2259C>T (p.Leu753=) single nucleotide variant not provided [RCV001417295] Chr9:114404055 [GRCh38]
Chr9:117166335 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1755A>C (p.Pro585=) single nucleotide variant not provided [RCV001402653] Chr9:114406836 [GRCh38]
Chr9:117169116 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2346G>A (p.Ser782=) single nucleotide variant not provided [RCV001408887] Chr9:114403968 [GRCh38]
Chr9:117166248 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.540A>G (p.Glu180=) single nucleotide variant not provided [RCV001535117] Chr9:114504262 [GRCh38]
Chr9:117266542 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1958_1959dup (p.Val654fs) duplication not provided [RCV001385731] Chr9:114406631..114406632 [GRCh38]
Chr9:117168911..117168912 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.192T>C (p.Ala64=) single nucleotide variant not provided [RCV001457556] Chr9:114504610 [GRCh38]
Chr9:117266890 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1204-17A>G single nucleotide variant not provided [RCV001495157] Chr9:114424563 [GRCh38]
Chr9:117186843 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.945A>G (p.Ala315=) single nucleotide variant not provided [RCV001473511] Chr9:114466285 [GRCh38]
Chr9:117228565 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1560C>G (p.Val520=) single nucleotide variant not provided [RCV001465576] Chr9:114423380 [GRCh38]
Chr9:117185660 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1128C>T (p.Ala376=) single nucleotide variant not provided [RCV001483051] Chr9:114426249 [GRCh38]
Chr9:117188529 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.291C>G (p.Val97=) single nucleotide variant not provided [RCV001458862] Chr9:114504511 [GRCh38]
Chr9:117266791 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1699-10C>T single nucleotide variant not provided [RCV001466106] Chr9:114406902 [GRCh38]
Chr9:117169182 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.964-21A>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV001658353]|not provided [RCV001639854] Chr9:114426434 [GRCh38]
Chr9:117188714 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1699-178G>A single nucleotide variant not provided [RCV001589654] Chr9:114407070 [GRCh38]
Chr9:117169350 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.963+314T>A single nucleotide variant not provided [RCV001693717] Chr9:114465953 [GRCh38]
Chr9:117228233 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1525C>G (p.Pro509Ala) single nucleotide variant not provided [RCV001517888] Chr9:114423415 [GRCh38]
Chr9:117185695 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1167-264G>A single nucleotide variant not provided [RCV001674488] Chr9:114425288 [GRCh38]
Chr9:117187568 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.729C>T (p.Ser243=) single nucleotide variant not provided [RCV001487597] Chr9:114478661 [GRCh38]
Chr9:117240941 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.879G>A (p.Thr293=) single nucleotide variant not provided [RCV001495642] Chr9:114466351 [GRCh38]
Chr9:117228631 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.585C>T (p.Ser195=) single nucleotide variant not provided [RCV001403466] Chr9:114504217 [GRCh38]
Chr9:117266497 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.993G>A (p.Gly331=) single nucleotide variant not provided [RCV001488246] Chr9:114426384 [GRCh38]
Chr9:117188664 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1125C>T (p.Ile375=) single nucleotide variant not provided [RCV001400003] Chr9:114426252 [GRCh38]
Chr9:117188532 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1352_1353inv (p.Gly451Asp) inversion not provided [RCV001521574] Chr9:114424397..114424398 [GRCh38]
Chr9:117186677..117186678 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1166+7C>T single nucleotide variant not provided [RCV001454489] Chr9:114426204 [GRCh38]
Chr9:117188484 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1893G>A (p.Ala631=) single nucleotide variant WHRN-related disorder [RCV004758168]|not provided [RCV001432920] Chr9:114406698 [GRCh38]
Chr9:117168978 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1486C>T (p.Leu496=) single nucleotide variant not provided [RCV001517740] Chr9:114423454 [GRCh38]
Chr9:117185734 [GRCh37]
Chr9:9q32		 benign|likely benign
NM_015404.4(WHRN):c.1786C>T (p.Leu596=) single nucleotide variant not provided [RCV001485448] Chr9:114406805 [GRCh38]
Chr9:117169085 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-48A>C single nucleotide variant not provided [RCV001536385] Chr9:114466440 [GRCh38]
Chr9:117228720 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2490C>T (p.Ile830=) single nucleotide variant not provided [RCV001400787] Chr9:114403268 [GRCh38]
Chr9:117165548 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1239G>A (p.Val413=) single nucleotide variant not provided [RCV001437522] Chr9:114424511 [GRCh38]
Chr9:117186791 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1371G>A (p.Glu457=) single nucleotide variant not provided [RCV003104561] Chr9:114424379 [GRCh38]
Chr9:117186659 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2349G>A (p.Val783=) single nucleotide variant not provided [RCV001727484] Chr9:114403965 [GRCh38]
Chr9:117166245 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.618+125T>A single nucleotide variant not provided [RCV001779752] Chr9:114504059 [GRCh38]
Chr9:117266339 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.375del (p.Ala126fs) deletion Usher syndrome [RCV003155844] Chr9:114504427 [GRCh38]
Chr9:117266707 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2189A>G (p.Asp730Gly) single nucleotide variant not provided [RCV001800004] Chr9:114406402 [GRCh38]
Chr9:117168682 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1810A>G (p.Arg604Gly) single nucleotide variant not provided [RCV001774711] Chr9:114406781 [GRCh38]
Chr9:117169061 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.919A>G (p.Thr307Ala) single nucleotide variant not specified [RCV001733679] Chr9:114466311 [GRCh38]
Chr9:117228591 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2250C>T (p.Leu750=) single nucleotide variant not provided [RCV001795006] Chr9:114404064 [GRCh38]
Chr9:117166344 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2054C>T (p.Ser685Leu) single nucleotide variant not provided [RCV001982671] Chr9:114406537 [GRCh38]
Chr9:117168817 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1930G>C (p.Asp644His) single nucleotide variant not provided [RCV001733353] Chr9:114406661 [GRCh38]
Chr9:117168941 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.179A>G (p.His60Arg) single nucleotide variant not provided [RCV002025245] Chr9:114504623 [GRCh38]
Chr9:117266903 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1292G>A (p.Arg431Gln) single nucleotide variant not provided [RCV001874337]|not specified [RCV004526871] Chr9:114424458 [GRCh38]
Chr9:117186738 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.277A>T (p.Met93Leu) single nucleotide variant not provided [RCV001971251] Chr9:114504525 [GRCh38]
Chr9:117266805 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.437C>T (p.Ala146Val) single nucleotide variant not provided [RCV001971402] Chr9:114504365 [GRCh38]
Chr9:117266645 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1232C>T (p.Ser411Phe) single nucleotide variant not provided [RCV002025864] Chr9:114424518 [GRCh38]
Chr9:117186798 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NM_015404.4(WHRN):c.571G>T (p.Val191Phe) single nucleotide variant not provided [RCV001928988] Chr9:114504231 [GRCh38]
Chr9:117266511 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.252T>G (p.Ser84Arg) single nucleotide variant not provided [RCV001873933] Chr9:114504550 [GRCh38]
Chr9:117266830 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.73G>T (p.Gly25Cys) single nucleotide variant not provided [RCV001914911] Chr9:114504729 [GRCh38]
Chr9:117267009 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2410A>C (p.Asn804His) single nucleotide variant not provided [RCV001970716] Chr9:114403904 [GRCh38]
Chr9:117166184 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.209del (p.Asn70fs) deletion not provided [RCV001987884] Chr9:114504593 [GRCh38]
Chr9:117266873 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.699C>G (p.Ile233Met) single nucleotide variant not provided [RCV001874605] Chr9:114478691 [GRCh38]
Chr9:117240971 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1591A>C (p.Ser531Arg) single nucleotide variant not provided [RCV002024464] Chr9:114423349 [GRCh38]
Chr9:117185629 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.321C>A (p.Asp107Glu) single nucleotide variant Inborn genetic diseases [RCV002560709]|not provided [RCV001948509] Chr9:114504481 [GRCh38]
Chr9:117266761 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_015404.4(WHRN):c.722G>A (p.Gly241Asp) single nucleotide variant not provided [RCV002003707] Chr9:114478668 [GRCh38]
Chr9:117240948 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1312del (p.Glu438fs) deletion not provided [RCV001947137] Chr9:114424438 [GRCh38]
Chr9:117186718 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1612G>A (p.Val538Ile) single nucleotide variant not provided [RCV001911977] Chr9:114423328 [GRCh38]
Chr9:117185608 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2547C>T (p.Gly849=) single nucleotide variant not provided [RCV001909865] Chr9:114402931 [GRCh38]
Chr9:117165211 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1372G>A (p.Ala458Thr) single nucleotide variant not provided [RCV001983472] Chr9:114424378 [GRCh38]
Chr9:117186658 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1630A>G (p.Thr544Ala) single nucleotide variant not provided [RCV001872096] Chr9:114408015 [GRCh38]
Chr9:117170295 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1491G>C (p.Arg497Ser) single nucleotide variant not provided [RCV001966227] Chr9:114423449 [GRCh38]
Chr9:117185729 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1991C>T (p.Pro664Leu) single nucleotide variant not provided [RCV001872240] Chr9:114406600 [GRCh38]
Chr9:117168880 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.878C>T (p.Thr293Met) single nucleotide variant not provided [RCV001969177] Chr9:114466352 [GRCh38]
Chr9:117228632 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2032G>A (p.Gly678Ser) single nucleotide variant not provided [RCV002003311] Chr9:114406559 [GRCh38]
Chr9:117168839 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1177G>A (p.Asp393Asn) single nucleotide variant not provided [RCV001889079] Chr9:114425014 [GRCh38]
Chr9:117187294 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_015404.4(WHRN):c.1565A>C (p.Tyr522Ser) single nucleotide variant not provided [RCV001985390] Chr9:114423375 [GRCh38]
Chr9:117185655 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.318C>A (p.Phe106Leu) single nucleotide variant not provided [RCV002040838] Chr9:114504484 [GRCh38]
Chr9:117266764 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.886G>A (p.Gly296Arg) single nucleotide variant not provided [RCV001965902] Chr9:114466344 [GRCh38]
Chr9:117228624 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.400G>A (p.Gly134Arg) single nucleotide variant not provided [RCV001892065] Chr9:114504402 [GRCh38]
Chr9:117266682 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q32-33.1(chr9:116506015-119942279) copy number loss not specified [RCV002052832] Chr9:116506015..119942279 [GRCh37]
Chr9:9q32-33.1		 uncertain significance
NM_015404.4(WHRN):c.1006A>G (p.Asn336Asp) single nucleotide variant not provided [RCV002041156] Chr9:114426371 [GRCh38]
Chr9:117188651 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2074C>A (p.Pro692Thr) single nucleotide variant not provided [RCV002021767] Chr9:114406517 [GRCh38]
Chr9:117168797 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.69G>T (p.Gly23=) single nucleotide variant not provided [RCV001892221] Chr9:114504733 [GRCh38]
Chr9:117267013 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.2389G>A (p.Glu797Lys) single nucleotide variant not provided [RCV001909594] Chr9:114403925 [GRCh38]
Chr9:117166205 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1054C>G (p.Leu352Val) single nucleotide variant not provided [RCV002005207] Chr9:114426323 [GRCh38]
Chr9:117188603 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.74dup (p.Gly26fs) duplication not provided [RCV001969836] Chr9:114504727..114504728 [GRCh38]
Chr9:117267007..117267008 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1612G>C (p.Val538Leu) single nucleotide variant not provided [RCV002044618] Chr9:114423328 [GRCh38]
Chr9:117185608 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.7G>A (p.Ala3Thr) single nucleotide variant not provided [RCV001910902] Chr9:114504795 [GRCh38]
Chr9:117267075 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.599C>T (p.Thr200Ile) single nucleotide variant not provided [RCV001970247] Chr9:114504203 [GRCh38]
Chr9:117266483 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1268G>A (p.Arg423Gln) single nucleotide variant not provided [RCV002006903] Chr9:114424482 [GRCh38]
Chr9:117186762 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.219C>G (p.Asp73Glu) single nucleotide variant not provided [RCV002022119] Chr9:114504583 [GRCh38]
Chr9:117266863 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.512T>C (p.Val171Ala) single nucleotide variant not provided [RCV002023482] Chr9:114504290 [GRCh38]
Chr9:117266570 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2562C>A (p.Asn854Lys) single nucleotide variant not provided [RCV001893150] Chr9:114402916 [GRCh38]
Chr9:117165196 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.931C>T (p.Pro311Ser) single nucleotide variant not provided [RCV002007759] Chr9:114466299 [GRCh38]
Chr9:117228579 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) copy number loss not specified [RCV002052828] Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32		 likely pathogenic
NM_015404.4(WHRN):c.1111G>A (p.Glu371Lys) single nucleotide variant not provided [RCV001984434] Chr9:114426266 [GRCh38]
Chr9:117188546 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) copy number loss not specified [RCV002052825] Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3		 pathogenic
NM_015404.4(WHRN):c.901G>A (p.Gly301Ser) single nucleotide variant not provided [RCV001894813] Chr9:114466329 [GRCh38]
Chr9:117228609 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.553G>A (p.Gly185Arg) single nucleotide variant not provided [RCV002005450] Chr9:114504249 [GRCh38]
Chr9:117266529 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.685G>T (p.Val229Phe) single nucleotide variant not provided [RCV001947400] Chr9:114478705 [GRCh38]
Chr9:117240985 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1348C>T (p.Arg450Cys) single nucleotide variant not provided [RCV001912823] Chr9:114424402 [GRCh38]
Chr9:117186682 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1853G>A (p.Gly618Asp) single nucleotide variant not provided [RCV002043161] Chr9:114406738 [GRCh38]
Chr9:117169018 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1411G>A (p.Ala471Thr) single nucleotide variant not provided [RCV001984348] Chr9:114424339 [GRCh38]
Chr9:117186619 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2542-1G>A single nucleotide variant not specified [RCV001844688] Chr9:114402937 [GRCh38]
Chr9:117165217 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1627A>G (p.Asn543Asp) single nucleotide variant not provided [RCV001983716] Chr9:114408018 [GRCh38]
Chr9:117170298 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1517G>A (p.Arg506Gln) single nucleotide variant not provided [RCV002010256] Chr9:114423423 [GRCh38]
Chr9:117185703 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1516C>T (p.Arg506Trp) single nucleotide variant not provided [RCV002028217] Chr9:114423424 [GRCh38]
Chr9:117185704 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1781T>C (p.Leu594Pro) single nucleotide variant not provided [RCV001981633] Chr9:114406810 [GRCh38]
Chr9:117169090 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2453G>A (p.Arg818His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002490266]|not provided [RCV001920690] Chr9:114403305 [GRCh38]
Chr9:117165585 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1795C>T (p.Pro599Ser) single nucleotide variant not provided [RCV001980775] Chr9:114406796 [GRCh38]
Chr9:117169076 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2514_2515delinsTT (p.Gln838_Pro839delinsHisSer) indel not provided [RCV002036904] Chr9:114403243..114403244 [GRCh38]
Chr9:117165523..117165524 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.863G>A (p.Arg288Gln) single nucleotide variant not provided [RCV002037241] Chr9:114466367 [GRCh38]
Chr9:117228647 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1751G>A (p.Arg584His) single nucleotide variant not provided [RCV001941159] Chr9:114406840 [GRCh38]
Chr9:117169120 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2233C>T (p.Arg745Cys) single nucleotide variant not provided [RCV001884223] Chr9:114406358 [GRCh38]
Chr9:117168638 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2281A>G (p.Ser761Gly) single nucleotide variant not provided [RCV002018707] Chr9:114404033 [GRCh38]
Chr9:117166313 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.284G>C (p.Arg95Pro) single nucleotide variant not provided [RCV001979348] Chr9:114504518 [GRCh38]
Chr9:117266798 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.153C>G (p.Ser51Arg) single nucleotide variant not provided [RCV001963526] Chr9:114504649 [GRCh38]
Chr9:117266929 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2188G>A (p.Asp730Asn) single nucleotide variant not provided [RCV002035842] Chr9:114406403 [GRCh38]
Chr9:117168683 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.718C>G (p.Gln240Glu) single nucleotide variant not provided [RCV001933087] Chr9:114478672 [GRCh38]
Chr9:117240952 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2485G>A (p.Ala829Thr) single nucleotide variant not provided [RCV001942519] Chr9:114403273 [GRCh38]
Chr9:117165553 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.157_166del (p.Ala53fs) deletion not provided [RCV001888304] Chr9:114504636..114504645 [GRCh38]
Chr9:117266916..117266925 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.978T>G (p.Ile326Met) single nucleotide variant not provided [RCV001887028] Chr9:114426399 [GRCh38]
Chr9:117188679 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.26C>T (p.Ser9Leu) single nucleotide variant not provided [RCV001977803] Chr9:114504776 [GRCh38]
Chr9:117267056 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2541+3A>G single nucleotide variant not provided [RCV001976302] Chr9:114403214 [GRCh38]
Chr9:117165494 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2656G>A (p.Glu886Lys) single nucleotide variant not provided [RCV001883407] Chr9:114402822 [GRCh38]
Chr9:117165102 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1687G>C (p.Asp563His) single nucleotide variant not provided [RCV001888373] Chr9:114407958 [GRCh38]
Chr9:117170238 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2299G>T (p.Asp767Tyr) single nucleotide variant not provided [RCV001899013] Chr9:114404015 [GRCh38]
Chr9:117166295 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.929_948dup (p.Gly317fs) duplication not provided [RCV001972676] Chr9:114466281..114466282 [GRCh38]
Chr9:117228561..117228562 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1334A>G (p.Tyr445Cys) single nucleotide variant not provided [RCV001899084] Chr9:114424416 [GRCh38]
Chr9:117186696 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2072G>A (p.Ser691Asn) single nucleotide variant not provided [RCV002012849] Chr9:114406519 [GRCh38]
Chr9:117168799 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2009C>T (p.Ala670Val) single nucleotide variant not provided [RCV002049424] Chr9:114406582 [GRCh38]
Chr9:117168862 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1750C>T (p.Arg584Cys) single nucleotide variant not provided [RCV002015094] Chr9:114406841 [GRCh38]
Chr9:117169121 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1306G>A (p.Glu436Lys) single nucleotide variant not provided [RCV001903196] Chr9:114424444 [GRCh38]
Chr9:117186724 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV001882335] Chr9:114504799 [GRCh38]
Chr9:117267079 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.143C>T (p.Ala48Val) single nucleotide variant not provided [RCV001919293] Chr9:114504659 [GRCh38]
Chr9:117266939 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1514C>T (p.Ala505Val) single nucleotide variant not provided [RCV001876429] Chr9:114423426 [GRCh38]
Chr9:117185706 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.207C>T (p.Arg69=) single nucleotide variant not provided [RCV001900891] Chr9:114504595 [GRCh38]
Chr9:117266875 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.524C>G (p.Ser175Cys) single nucleotide variant not provided [RCV001881761] Chr9:114504278 [GRCh38]
Chr9:117266558 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1688_1690del (p.Asp563del) deletion not provided [RCV002016496] Chr9:114407955..114407957 [GRCh38]
Chr9:117170235..117170237 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.464G>C (p.Ser155Thr) single nucleotide variant not provided [RCV002027550] Chr9:114504338 [GRCh38]
Chr9:117266618 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.35C>G (p.Ser12Trp) single nucleotide variant not provided [RCV001920073] Chr9:114504767 [GRCh38]
Chr9:117267047 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.862C>T (p.Arg288Trp) single nucleotide variant not provided [RCV002029097] Chr9:114466368 [GRCh38]
Chr9:117228648 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1822C>T (p.Gln608Ter) single nucleotide variant not provided [RCV001993244] Chr9:114406769 [GRCh38]
Chr9:117169049 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.190G>T (p.Ala64Ser) single nucleotide variant Inborn genetic diseases [RCV002555656]|not provided [RCV001898855] Chr9:114504612 [GRCh38]
Chr9:117266892 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1192G>A (p.Gly398Arg) single nucleotide variant not provided [RCV002030495] Chr9:114424999 [GRCh38]
Chr9:117187279 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.737C>T (p.Pro246Leu) single nucleotide variant not provided [RCV001954283] Chr9:114478653 [GRCh38]
Chr9:117240933 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1696G>A (p.Val566Met) single nucleotide variant not provided [RCV002010372] Chr9:114407949 [GRCh38]
Chr9:117170229 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.859G>A (p.Gly287Ser) single nucleotide variant not provided [RCV001870430] Chr9:114466371 [GRCh38]
Chr9:117228651 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1423C>T (p.Leu475Phe) single nucleotide variant not provided [RCV002029452] Chr9:114423517 [GRCh38]
Chr9:117185797 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.643G>T (p.Val215Leu) single nucleotide variant not provided [RCV002018917] Chr9:114478747 [GRCh38]
Chr9:117241027 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1126G>A (p.Ala376Thr) single nucleotide variant not provided [RCV001899432] Chr9:114426251 [GRCh38]
Chr9:117188531 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2448G>A (p.Leu816=) single nucleotide variant not provided [RCV002048716] Chr9:114403310 [GRCh38]
Chr9:117165590 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1598G>T (p.Gly533Val) single nucleotide variant not provided [RCV002019169] Chr9:114423342 [GRCh38]
Chr9:117185622 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.763G>A (p.Gly255Ser) single nucleotide variant not provided [RCV001979159] Chr9:114478627 [GRCh38]
Chr9:117240907 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2044C>T (p.Arg682Trp) single nucleotide variant not provided [RCV002012534] Chr9:114406547 [GRCh38]
Chr9:117168827 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.167A>G (p.Glu56Gly) single nucleotide variant not provided [RCV002048979] Chr9:114504635 [GRCh38]
Chr9:117266915 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2274G>C (p.Gln758His) single nucleotide variant not provided [RCV002017486] Chr9:114404040 [GRCh38]
Chr9:117166320 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.501del (p.Ile166_Tyr167insTer) deletion not provided [RCV001920200] Chr9:114504301 [GRCh38]
Chr9:117266581 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1712C>T (p.Ser571Phe) single nucleotide variant not provided [RCV002014051] Chr9:114406879 [GRCh38]
Chr9:117169159 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1507A>G (p.Met503Val) single nucleotide variant not provided [RCV001924365] Chr9:114423433 [GRCh38]
Chr9:117185713 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2673G>C (p.Lys891Asn) single nucleotide variant not provided [RCV001875747] Chr9:114402805 [GRCh38]
Chr9:117165085 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.852G>A (p.Leu284=) single nucleotide variant not provided [RCV002010440] Chr9:114466378 [GRCh38]
Chr9:117228658 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1025C>T (p.Ala342Val) single nucleotide variant not provided [RCV001903656] Chr9:114426352 [GRCh38]
Chr9:117188632 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.362C>A (p.Pro121His) single nucleotide variant not provided [RCV002017642] Chr9:114504440 [GRCh38]
Chr9:117266720 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1154C>T (p.Ala385Val) single nucleotide variant not provided [RCV001897825] Chr9:114426223 [GRCh38]
Chr9:117188503 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1434G>A (p.Glu478=) single nucleotide variant not provided [RCV001938618] Chr9:114423506 [GRCh38]
Chr9:117185786 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.1231T>G (p.Ser411Ala) single nucleotide variant not provided [RCV001960900] Chr9:114424519 [GRCh38]
Chr9:117186799 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1493G>A (p.Arg498His) single nucleotide variant not provided [RCV001938771] Chr9:114423447 [GRCh38]
Chr9:117185727 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2345C>T (p.Ser782Leu) single nucleotide variant not provided [RCV001998517] Chr9:114403969 [GRCh38]
Chr9:117166249 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1097G>A (p.Arg366His) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV002506945]|not provided [RCV001881092] Chr9:114426280 [GRCh38]
Chr9:117188560 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1541G>A (p.Gly514Glu) single nucleotide variant not provided [RCV001977631] Chr9:114423399 [GRCh38]
Chr9:117185679 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.802A>G (p.Thr268Ala) single nucleotide variant not provided [RCV002016501] Chr9:114478588 [GRCh38]
Chr9:117240868 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.619-4C>G single nucleotide variant not provided [RCV001991064] Chr9:114478775 [GRCh38]
Chr9:117241055 [GRCh37]
Chr9:9q32		 likely benign|uncertain significance
NM_015404.4(WHRN):c.793C>T (p.Arg265Trp) single nucleotide variant not provided [RCV001936238] Chr9:114478597 [GRCh38]
Chr9:117240877 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1939T>C (p.Ser647Pro) single nucleotide variant not provided [RCV002015792] Chr9:114406652 [GRCh38]
Chr9:117168932 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.596T>G (p.Val199Gly) single nucleotide variant not provided [RCV002031170] Chr9:114504206 [GRCh38]
Chr9:117266486 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1199A>G (p.Asn400Ser) single nucleotide variant not provided [RCV002047558] Chr9:114424992 [GRCh38]
Chr9:117187272 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1413C>T (p.Ala471=) single nucleotide variant not provided [RCV002147183] Chr9:114424337 [GRCh38]
Chr9:117186617 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.894T>C (p.Ala298=) single nucleotide variant not provided [RCV002206891] Chr9:114466336 [GRCh38]
Chr9:117228616 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2640C>T (p.Ala880=) single nucleotide variant not provided [RCV002167886] Chr9:114402838 [GRCh38]
Chr9:117165118 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1662C>A (p.Val554=) single nucleotide variant not provided [RCV002147340] Chr9:114407983 [GRCh38]
Chr9:117170263 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1998C>T (p.Asp666=) single nucleotide variant not provided [RCV002205888] Chr9:114406593 [GRCh38]
Chr9:117168873 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.963+6_963+7dup duplication not provided [RCV002129166] Chr9:114466259..114466260 [GRCh38]
Chr9:117228539..117228540 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2556T>C (p.Ala852=) single nucleotide variant not provided [RCV002166042] Chr9:114402922 [GRCh38]
Chr9:117165202 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1554C>T (p.Ser518=) single nucleotide variant not provided [RCV002107177] Chr9:114423386 [GRCh38]
Chr9:117185666 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.387C>T (p.Gly129=) single nucleotide variant not provided [RCV002186115] Chr9:114504415 [GRCh38]
Chr9:117266695 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.219C>T (p.Asp73=) single nucleotide variant not provided [RCV002209270] Chr9:114504583 [GRCh38]
Chr9:117266863 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1317C>T (p.His439=) single nucleotide variant not provided [RCV002085472] Chr9:114424433 [GRCh38]
Chr9:117186713 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2277T>G (p.Thr759=) single nucleotide variant not provided [RCV002209092] Chr9:114404037 [GRCh38]
Chr9:117166317 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2163T>C (p.Phe721=) single nucleotide variant not provided [RCV002168524] Chr9:114406428 [GRCh38]
Chr9:117168708 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2236+18A>T single nucleotide variant not provided [RCV002127655] Chr9:114406337 [GRCh38]
Chr9:117168617 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1317_1318delinsTA (p.Ala440Thr) indel not provided [RCV002165018] Chr9:114424432..114424433 [GRCh38]
Chr9:117186712..117186713 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1204-19C>G single nucleotide variant not provided [RCV002108330] Chr9:114424565 [GRCh38]
Chr9:117186845 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.519A>G (p.Pro173=) single nucleotide variant not provided [RCV002129964] Chr9:114504283 [GRCh38]
Chr9:117266563 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1266A>G (p.Thr422=) single nucleotide variant not provided [RCV002071178] Chr9:114424484 [GRCh38]
Chr9:117186764 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2412C>T (p.Asn804=) single nucleotide variant not provided [RCV002091735] Chr9:114403902 [GRCh38]
Chr9:117166182 [GRCh37]
Chr9:9q32		 likely benign|conflicting interpretations of pathogenicity
NM_015404.4(WHRN):c.1416+15G>T single nucleotide variant not provided [RCV002072637] Chr9:114424319 [GRCh38]
Chr9:117186599 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2115C>T (p.Pro705=) single nucleotide variant not provided [RCV002214835] Chr9:114406476 [GRCh38]
Chr9:117168756 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.990T>C (p.Asn330=) single nucleotide variant not provided [RCV002104396] Chr9:114426387 [GRCh38]
Chr9:117188667 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2001C>A (p.Ala667=) single nucleotide variant not provided [RCV002153715] Chr9:114406590 [GRCh38]
Chr9:117168870 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1698+8C>T single nucleotide variant not provided [RCV002071638] Chr9:114407939 [GRCh38]
Chr9:117170219 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2139C>T (p.Asp713=) single nucleotide variant not provided [RCV002075609] Chr9:114406452 [GRCh38]
Chr9:117168732 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.753C>T (p.Pro251=) single nucleotide variant not provided [RCV002094432] Chr9:114478637 [GRCh38]
Chr9:117240917 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1008C>T (p.Asn336=) single nucleotide variant not provided [RCV002133205] Chr9:114426369 [GRCh38]
Chr9:117188649 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2100G>C (p.Gly700=) single nucleotide variant not provided [RCV002205900] Chr9:114406491 [GRCh38]
Chr9:117168771 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2010C>T (p.Ala670=) single nucleotide variant not provided [RCV002166596] Chr9:114406581 [GRCh38]
Chr9:117168861 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2343G>A (p.Gln781=) single nucleotide variant not provided [RCV002174924] Chr9:114403971 [GRCh38]
Chr9:117166251 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1155G>A (p.Ala385=) single nucleotide variant not provided [RCV002079873] Chr9:114426222 [GRCh38]
Chr9:117188502 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.963+11G>C single nucleotide variant not provided [RCV002088089] Chr9:114466256 [GRCh38]
Chr9:117228536 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1320C>A (p.Ala440=) single nucleotide variant not provided [RCV002194760] Chr9:114424430 [GRCh38]
Chr9:117186710 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.627G>A (p.Lys209=) single nucleotide variant not provided [RCV002151815] Chr9:114478763 [GRCh38]
Chr9:117241043 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.618+7C>T single nucleotide variant not provided [RCV002094808] Chr9:114504177 [GRCh38]
Chr9:117266457 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2418+17A>C single nucleotide variant not provided [RCV002170642] Chr9:114403879 [GRCh38]
Chr9:117166159 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.435T>A (p.Arg145=) single nucleotide variant not provided [RCV002134674] Chr9:114504367 [GRCh38]
Chr9:117266647 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.900C>T (p.Tyr300=) single nucleotide variant not provided [RCV002114599] Chr9:114466330 [GRCh38]
Chr9:117228610 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2419-18C>T single nucleotide variant not provided [RCV002152531] Chr9:114403357 [GRCh38]
Chr9:117165637 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2388C>T (p.Asn796=) single nucleotide variant not provided [RCV002132838] Chr9:114403926 [GRCh38]
Chr9:117166206 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.231C>T (p.Thr77=) single nucleotide variant not provided [RCV002096393] Chr9:114504571 [GRCh38]
Chr9:117266851 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.99G>T (p.Arg33=) single nucleotide variant not provided [RCV002201259] Chr9:114504703 [GRCh38]
Chr9:117266983 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2236+17C>T single nucleotide variant not provided [RCV002082108] Chr9:114406338 [GRCh38]
Chr9:117168618 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1308G>A (p.Glu436=) single nucleotide variant not provided [RCV002154827] Chr9:114424442 [GRCh38]
Chr9:117186722 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2237-15T>C single nucleotide variant not provided [RCV002083065] Chr9:114404092 [GRCh38]
Chr9:117166372 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2541+13G>C single nucleotide variant not provided [RCV002216549] Chr9:114403204 [GRCh38]
Chr9:117165484 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1080G>C (p.Gly360=) single nucleotide variant not provided [RCV002083307] Chr9:114426297 [GRCh38]
Chr9:117188577 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1938C>A (p.Pro646=) single nucleotide variant not provided [RCV002163309] Chr9:114406653 [GRCh38]
Chr9:117168933 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.876C>T (p.Leu292=) single nucleotide variant not provided [RCV002199852] Chr9:114466354 [GRCh38]
Chr9:117228634 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1626+16C>A single nucleotide variant not provided [RCV002160096] Chr9:114423298 [GRCh38]
Chr9:117185578 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1440A>G (p.Arg480=) single nucleotide variant not provided [RCV002100247] Chr9:114423500 [GRCh38]
Chr9:117185780 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1164A>C (p.Ala388=) single nucleotide variant not provided [RCV002163475] Chr9:114426213 [GRCh38]
Chr9:117188493 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1575G>A (p.Thr525=) single nucleotide variant not provided [RCV002143295] Chr9:114423365 [GRCh38]
Chr9:117185645 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-15C>G single nucleotide variant not provided [RCV002163661] Chr9:114466407 [GRCh38]
Chr9:117228687 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1359C>T (p.Ser453=) single nucleotide variant not provided [RCV002143524] Chr9:114424391 [GRCh38]
Chr9:117186671 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2237-20C>T single nucleotide variant not provided [RCV002155005] Chr9:114404097 [GRCh38]
Chr9:117166377 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1620G>A (p.Ser540=) single nucleotide variant not provided [RCV002099184] Chr9:114423320 [GRCh38]
Chr9:117185600 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.255G>C (p.Pro85=) single nucleotide variant not provided [RCV002137279] Chr9:114504547 [GRCh38]
Chr9:117266827 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2457G>A (p.Val819=) single nucleotide variant not provided [RCV002179059] Chr9:114403301 [GRCh38]
Chr9:117165581 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.180C>T (p.His60=) single nucleotide variant not provided [RCV002158164] Chr9:114504622 [GRCh38]
Chr9:117266902 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1917C>T (p.Thr639=) single nucleotide variant not provided [RCV002081865] Chr9:114406674 [GRCh38]
Chr9:117168954 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2237-17C>G single nucleotide variant not provided [RCV002198611] Chr9:114404094 [GRCh38]
Chr9:117166374 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.618+18A>G single nucleotide variant not provided [RCV002123534] Chr9:114504166 [GRCh38]
Chr9:117266446 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.498C>T (p.Ile166=) single nucleotide variant not provided [RCV002136366] Chr9:114504304 [GRCh38]
Chr9:117266584 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2236+13A>C single nucleotide variant not provided [RCV002158580] Chr9:114406342 [GRCh38]
Chr9:117168622 [GRCh37]
Chr9:9q32		 likely benign
NC_000009.11:g.(?_117164359)_(117267737_?)dup duplication not specified [RCV002222926] Chr9:117164359..117267737 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1699-14G>C single nucleotide variant not provided [RCV002199436] Chr9:114406906 [GRCh38]
Chr9:117169186 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1020C>T (p.Asp340=) single nucleotide variant not provided [RCV002161594] Chr9:114426357 [GRCh38]
Chr9:117188637 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1776C>T (p.Asn592=) single nucleotide variant not provided [RCV002179569] Chr9:114406815 [GRCh38]
Chr9:117169095 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2652C>T (p.Ile884=) single nucleotide variant not provided [RCV002141064] Chr9:114402826 [GRCh38]
Chr9:117165106 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2031C>T (p.Ile677=) single nucleotide variant not provided [RCV002201005] Chr9:114406560 [GRCh38]
Chr9:117168840 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1417-19C>G single nucleotide variant not provided [RCV002180171] Chr9:114423542 [GRCh38]
Chr9:117185822 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2208T>C (p.Asn736=) single nucleotide variant not provided [RCV002160935] Chr9:114406383 [GRCh38]
Chr9:117168663 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.348G>C (p.Leu116=) single nucleotide variant not provided [RCV003115140] Chr9:114504454 [GRCh38]
Chr9:117266734 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1868C>A (p.Ala623Asp) single nucleotide variant not provided [RCV002296996] Chr9:114406723 [GRCh38]
Chr9:117169003 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_015404.4(WHRN):c.1024G>T (p.Ala342Ser) single nucleotide variant not provided [RCV002276207] Chr9:114426353 [GRCh38]
Chr9:117188633 [GRCh37]
Chr9:9q32		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_015404.4(WHRN):c.1577G>T (p.Gly526Val) single nucleotide variant not provided [RCV002297576] Chr9:114423363 [GRCh38]
Chr9:117185643 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2065C>G (p.Leu689Val) single nucleotide variant not provided [RCV002303658] Chr9:114406526 [GRCh38]
Chr9:117168806 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2701A>C (p.Thr901Pro) single nucleotide variant not provided [RCV002308822] Chr9:114402777 [GRCh38]
Chr9:117165057 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2225C>T (p.Pro742Leu) single nucleotide variant not provided [RCV002302950] Chr9:114406366 [GRCh38]
Chr9:117168646 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1466A>G (p.Glu489Gly) single nucleotide variant not provided [RCV003032304] Chr9:114423474 [GRCh38]
Chr9:117185754 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2314G>A (p.Glu772Lys) single nucleotide variant not provided [RCV003014837] Chr9:114404000 [GRCh38]
Chr9:117166280 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.46G>A (p.Gly16Ser) single nucleotide variant not provided [RCV003033496] Chr9:114504756 [GRCh38]
Chr9:117267036 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.546G>T (p.Leu182=) single nucleotide variant not provided [RCV002730498] Chr9:114504256 [GRCh38]
Chr9:117266536 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2418+11_2418+12dup duplication not provided [RCV002862896] Chr9:114403883..114403884 [GRCh38]
Chr9:117166163..117166164 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2418+14A>G single nucleotide variant not provided [RCV002613691] Chr9:114403882 [GRCh38]
Chr9:117166162 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.721G>C (p.Gly241Arg) single nucleotide variant not provided [RCV002996463] Chr9:114478669 [GRCh38]
Chr9:117240949 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.618+17G>A single nucleotide variant not provided [RCV002617966] Chr9:114504167 [GRCh38]
Chr9:117266447 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.586C>G (p.Leu196Val) single nucleotide variant not provided [RCV002974868] Chr9:114504216 [GRCh38]
Chr9:117266496 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1890A>G (p.Pro630=) single nucleotide variant not provided [RCV002907643] Chr9:114406701 [GRCh38]
Chr9:117168981 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1936C>T (p.Pro646Ser) single nucleotide variant not provided [RCV002816600] Chr9:114406655 [GRCh38]
Chr9:117168935 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2102G>A (p.Gly701Asp) single nucleotide variant not provided [RCV003075604] Chr9:114406489 [GRCh38]
Chr9:117168769 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2677C>G (p.Arg893Gly) single nucleotide variant not provided [RCV002996952] Chr9:114402801 [GRCh38]
Chr9:117165081 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2613G>T (p.Thr871=) single nucleotide variant not provided [RCV002816656] Chr9:114402865 [GRCh38]
Chr9:117165145 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1417-3C>T single nucleotide variant not provided [RCV003017694] Chr9:114423526 [GRCh38]
Chr9:117185806 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1177G>T (p.Asp393Tyr) single nucleotide variant not provided [RCV002843167] Chr9:114425014 [GRCh38]
Chr9:117187294 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2220G>A (p.Ala740=) single nucleotide variant WHRN-related disorder [RCV003936537]|not provided [RCV003075846] Chr9:114406371 [GRCh38]
Chr9:117168651 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1880G>A (p.Arg627His) single nucleotide variant not provided [RCV002681558] Chr9:114406711 [GRCh38]
Chr9:117168991 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1398G>A (p.Leu466=) single nucleotide variant not provided [RCV003015222] Chr9:114424352 [GRCh38]
Chr9:117186632 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2653G>C (p.Ala885Pro) single nucleotide variant not provided [RCV002991610] Chr9:114402825 [GRCh38]
Chr9:117165105 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1162G>A (p.Ala388Thr) single nucleotide variant not provided [RCV002838743] Chr9:114426215 [GRCh38]
Chr9:117188495 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2137G>C (p.Asp713His) single nucleotide variant not provided [RCV003016408] Chr9:114406454 [GRCh38]
Chr9:117168734 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.108T>C (p.Ser36=) single nucleotide variant not provided [RCV002858050] Chr9:114504694 [GRCh38]
Chr9:117266974 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1265dup (p.Arg423fs) duplication not provided [RCV002881705] Chr9:114424484..114424485 [GRCh38]
Chr9:117186764..117186765 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.616A>G (p.Lys206Glu) single nucleotide variant not provided [RCV002461694] Chr9:114504186 [GRCh38]
Chr9:117266466 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.759C>T (p.Pro253=) single nucleotide variant not provided [RCV003034419] Chr9:114478631 [GRCh38]
Chr9:117240911 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1565A>G (p.Tyr522Cys) single nucleotide variant not provided [RCV002996669] Chr9:114423375 [GRCh38]
Chr9:117185655 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1975C>T (p.Pro659Ser) single nucleotide variant not provided [RCV003015649] Chr9:114406616 [GRCh38]
Chr9:117168896 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.454T>C (p.Leu152=) single nucleotide variant not provided [RCV002846353] Chr9:114504348 [GRCh38]
Chr9:117266628 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2018A>G (p.Asn673Ser) single nucleotide variant not provided [RCV002593308] Chr9:114406573 [GRCh38]
Chr9:117168853 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1520A>T (p.Gln507Leu) single nucleotide variant not provided [RCV002571910] Chr9:114423420 [GRCh38]
Chr9:117185700 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.66C>T (p.Ala22=) single nucleotide variant not provided [RCV002889164] Chr9:114504736 [GRCh38]
Chr9:117267016 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.886G>T (p.Gly296Trp) single nucleotide variant not provided [RCV003054712] Chr9:114466344 [GRCh38]
Chr9:117228624 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2542-15G>T single nucleotide variant not provided [RCV002696126] Chr9:114402951 [GRCh38]
Chr9:117165231 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1381A>G (p.Met461Val) single nucleotide variant not provided [RCV003055464] Chr9:114424369 [GRCh38]
Chr9:117186649 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.136C>T (p.Leu46=) single nucleotide variant not provided [RCV002820381] Chr9:114504666 [GRCh38]
Chr9:117266946 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1574C>T (p.Thr525Met) single nucleotide variant not provided [RCV002658993] Chr9:114423366 [GRCh38]
Chr9:117185646 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1675A>C (p.Asn559His) single nucleotide variant not provided [RCV003018339] Chr9:114407970 [GRCh38]
Chr9:117170250 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2541+16C>T single nucleotide variant not provided [RCV002569719] Chr9:114403201 [GRCh38]
Chr9:117165481 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1724G>T (p.Gly575Val) single nucleotide variant not provided [RCV002659188] Chr9:114406867 [GRCh38]
Chr9:117169147 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1625G>C (p.Arg542Thr) single nucleotide variant not provided [RCV002659199] Chr9:114423315 [GRCh38]
Chr9:117185595 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2045G>T (p.Arg682Leu) single nucleotide variant not provided [RCV002695469] Chr9:114406546 [GRCh38]
Chr9:117168826 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1922C>G (p.Ser641Cys) single nucleotide variant not provided [RCV003018423] Chr9:114406669 [GRCh38]
Chr9:117168949 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.301T>G (p.Ser101Ala) single nucleotide variant not provided [RCV003053680] Chr9:114504501 [GRCh38]
Chr9:117266781 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.366C>A (p.Tyr122Ter) single nucleotide variant not provided [RCV003053891] Chr9:114504436 [GRCh38]
Chr9:117266716 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.262C>T (p.Arg88Trp) single nucleotide variant not provided [RCV002622099] Chr9:114504540 [GRCh38]
Chr9:117266820 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1203+20G>A single nucleotide variant not provided [RCV003038463] Chr9:114424968 [GRCh38]
Chr9:117187248 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2377C>G (p.Leu793Val) single nucleotide variant not provided [RCV002592715] Chr9:114403937 [GRCh38]
Chr9:117166217 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1586C>T (p.Thr529Ile) single nucleotide variant not provided [RCV002735310] Chr9:114423354 [GRCh38]
Chr9:117185634 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2429T>C (p.Leu810Pro) single nucleotide variant not provided [RCV003036329] Chr9:114403329 [GRCh38]
Chr9:117165609 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.172T>C (p.Phe58Leu) single nucleotide variant not provided [RCV002913763] Chr9:114504630 [GRCh38]
Chr9:117266910 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.499T>G (p.Tyr167Asp) single nucleotide variant not provided [RCV003018352] Chr9:114504303 [GRCh38]
Chr9:117266583 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV003018401] Chr9:114504799 [GRCh38]
Chr9:117267079 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.348G>A (p.Leu116=) single nucleotide variant not provided [RCV002870777] Chr9:114504454 [GRCh38]
Chr9:117266734 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1803G>A (p.Lys601=) single nucleotide variant not provided [RCV002949147] Chr9:114406788 [GRCh38]
Chr9:117169068 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.872G>T (p.Gly291Val) single nucleotide variant not provided [RCV002932192] Chr9:114466358 [GRCh38]
Chr9:117228638 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1649C>G (p.Thr550Ser) single nucleotide variant not provided [RCV002626855] Chr9:114407996 [GRCh38]
Chr9:117170276 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.855G>A (p.Gly285=) single nucleotide variant not provided [RCV002745718] Chr9:114466375 [GRCh38]
Chr9:117228655 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.584C>T (p.Ser195Phe) single nucleotide variant not provided [RCV002596455] Chr9:114504218 [GRCh38]
Chr9:117266498 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.326A>C (p.Tyr109Ser) single nucleotide variant Inborn genetic diseases [RCV002789304] Chr9:114504476 [GRCh38]
Chr9:117266756 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1563del (p.Tyr522fs) deletion not provided [RCV003026127] Chr9:114423377 [GRCh38]
Chr9:117185657 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.925G>A (p.Val309Met) single nucleotide variant not provided [RCV002572309] Chr9:114466305 [GRCh38]
Chr9:117228585 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2346G>T (p.Ser782=) single nucleotide variant not provided [RCV002710377] Chr9:114403968 [GRCh38]
Chr9:117166248 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1005C>T (p.Leu335=) single nucleotide variant not provided [RCV002890346] Chr9:114426372 [GRCh38]
Chr9:117188652 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.812_826del (p.Leu271_Asp276delinsHis) deletion not provided [RCV002711304] Chr9:114478564..114478578 [GRCh38]
Chr9:117240844..117240858 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.809A>G (p.His270Arg) single nucleotide variant not provided [RCV002711305] Chr9:114478581 [GRCh38]
Chr9:117240861 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.390C>G (p.Pro130=) single nucleotide variant not provided [RCV002666563] Chr9:114504412 [GRCh38]
Chr9:117266692 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2025C>T (p.His675=) single nucleotide variant not provided [RCV002801136] Chr9:114406566 [GRCh38]
Chr9:117168846 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1365T>G (p.Ser455=) single nucleotide variant not provided [RCV002853021] Chr9:114424385 [GRCh38]
Chr9:117186665 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2304T>C (p.Ala768=) single nucleotide variant not provided [RCV003007486] Chr9:114404010 [GRCh38]
Chr9:117166290 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1653C>A (p.Gly551=) single nucleotide variant not provided [RCV002876294] Chr9:114407992 [GRCh38]
Chr9:117170272 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.334G>A (p.Glu112Lys) single nucleotide variant not provided [RCV002711744] Chr9:114504468 [GRCh38]
Chr9:117266748 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.406G>C (p.Gly136Arg) single nucleotide variant not provided [RCV002594867] Chr9:114504396 [GRCh38]
Chr9:117266676 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.715_717delinsAAA (p.Pro239Lys) indel not provided [RCV002851674] Chr9:114478673..114478675 [GRCh38]
Chr9:117240953..117240955 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.413T>G (p.Val138Gly) single nucleotide variant not provided [RCV002829897] Chr9:114504389 [GRCh38]
Chr9:117266669 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1166+17C>T single nucleotide variant not provided [RCV002594636] Chr9:114426194 [GRCh38]
Chr9:117188474 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1562C>T (p.Ser521Phe) single nucleotide variant not provided [RCV002594158] Chr9:114423378 [GRCh38]
Chr9:117185658 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1523C>T (p.Pro508Leu) single nucleotide variant not provided [RCV002624587] Chr9:114423417 [GRCh38]
Chr9:117185697 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.884G>A (p.Arg295His) single nucleotide variant not provided [RCV002575843] Chr9:114466346 [GRCh38]
Chr9:117228626 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2037C>T (p.Pro679=) single nucleotide variant not provided [RCV003022654] Chr9:114406554 [GRCh38]
Chr9:117168834 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2269G>A (p.Gly757Arg) single nucleotide variant not provided [RCV002642369] Chr9:114404045 [GRCh38]
Chr9:117166325 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.618+6G>C single nucleotide variant not provided [RCV002700454] Chr9:114504178 [GRCh38]
Chr9:117266458 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1491G>T (p.Arg497Ser) single nucleotide variant not provided [RCV002596794] Chr9:114423449 [GRCh38]
Chr9:117185729 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.23T>A (p.Leu8Gln) single nucleotide variant Inborn genetic diseases [RCV002748571] Chr9:114504779 [GRCh38]
Chr9:117267059 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2234G>C (p.Arg745Pro) single nucleotide variant not provided [RCV003065929] Chr9:114406357 [GRCh38]
Chr9:117168637 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2582G>A (p.Gly861Asp) single nucleotide variant not provided [RCV002942062] Chr9:114402896 [GRCh38]
Chr9:117165176 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2341C>G (p.Gln781Glu) single nucleotide variant not provided [RCV002576487] Chr9:114403973 [GRCh38]
Chr9:117166253 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2399C>T (p.Thr800Ile) single nucleotide variant not provided [RCV002600389] Chr9:114403915 [GRCh38]
Chr9:117166195 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1695C>G (p.Ser565=) single nucleotide variant not provided [RCV002676212] Chr9:114407950 [GRCh38]
Chr9:117170230 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1435G>A (p.Val479Met) single nucleotide variant not provided [RCV002791936] Chr9:114423505 [GRCh38]
Chr9:117185785 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1777G>A (p.Asp593Asn) single nucleotide variant Inborn genetic diseases [RCV002747448] Chr9:114406814 [GRCh38]
Chr9:117169094 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.851T>C (p.Leu284Pro) single nucleotide variant not provided [RCV003028003] Chr9:114466379 [GRCh38]
Chr9:117228659 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.351C>T (p.Pro117=) single nucleotide variant not provided [RCV003045303] Chr9:114504451 [GRCh38]
Chr9:117266731 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.619-12C>G single nucleotide variant not provided [RCV002898656] Chr9:114478783 [GRCh38]
Chr9:117241063 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1777G>T (p.Asp593Tyr) single nucleotide variant not provided [RCV003028810] Chr9:114406814 [GRCh38]
Chr9:117169094 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2045G>A (p.Arg682Gln) single nucleotide variant not provided [RCV002717389] Chr9:114406546 [GRCh38]
Chr9:117168826 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1203+13C>T single nucleotide variant not provided [RCV002835007] Chr9:114424975 [GRCh38]
Chr9:117187255 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.277A>G (p.Met93Val) single nucleotide variant not provided [RCV002715579] Chr9:114504525 [GRCh38]
Chr9:117266805 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2232G>A (p.Thr744=) single nucleotide variant not provided [RCV002715869] Chr9:114406359 [GRCh38]
Chr9:117168639 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.793C>A (p.Arg265=) single nucleotide variant not provided [RCV002857300] Chr9:114478597 [GRCh38]
Chr9:117240877 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.6C>T (p.Asn2=) single nucleotide variant not provided [RCV003031055] Chr9:114504796 [GRCh38]
Chr9:117267076 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2379G>A (p.Leu793=) single nucleotide variant WHRN-related disorder [RCV003963350]|not provided [RCV002770547] Chr9:114403935 [GRCh38]
Chr9:117166215 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1465G>A (p.Glu489Lys) single nucleotide variant not provided [RCV002895943] Chr9:114423475 [GRCh38]
Chr9:117185755 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1446C>T (p.Thr482=) single nucleotide variant not provided [RCV002716510] Chr9:114423494 [GRCh38]
Chr9:117185774 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV003064226] Chr9:114504648 [GRCh38]
Chr9:117266928 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2541+17C>T single nucleotide variant not provided [RCV002646864] Chr9:114403200 [GRCh38]
Chr9:117165480 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1167-18G>A single nucleotide variant not provided [RCV003031321] Chr9:114425042 [GRCh38]
Chr9:117187322 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1177G>C (p.Asp393His) single nucleotide variant not provided [RCV003090074] Chr9:114425014 [GRCh38]
Chr9:117187294 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.97_105dup (p.Leu35_Ser36insArgLeuLeu) duplication not provided [RCV002806848] Chr9:114504696..114504697 [GRCh38]
Chr9:117266976..117266977 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.667C>G (p.Arg223Gly) single nucleotide variant not provided [RCV002856496] Chr9:114478723 [GRCh38]
Chr9:117241003 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.70G>A (p.Ala24Thr) single nucleotide variant not provided [RCV003045942] Chr9:114504732 [GRCh38]
Chr9:117267012 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1958C>G (p.Ser653Cys) single nucleotide variant not provided [RCV002961869] Chr9:114406633 [GRCh38]
Chr9:117168913 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2237-9C>A single nucleotide variant not provided [RCV002635079] Chr9:114404086 [GRCh38]
Chr9:117166366 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1417-8G>C single nucleotide variant not provided [RCV002653576] Chr9:114423531 [GRCh38]
Chr9:117185811 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1537G>C (p.Ala513Pro) single nucleotide variant not provided [RCV002653663] Chr9:114423403 [GRCh38]
Chr9:117185683 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1416+13C>G single nucleotide variant not provided [RCV002653887] Chr9:114424321 [GRCh38]
Chr9:117186601 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.794G>A (p.Arg265Gln) single nucleotide variant not provided [RCV002589945] Chr9:114478596 [GRCh38]
Chr9:117240876 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2541+15G>T single nucleotide variant not provided [RCV002590072] Chr9:114403202 [GRCh38]
Chr9:117165482 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-13C>T single nucleotide variant not provided [RCV002658071] Chr9:114466405 [GRCh38]
Chr9:117228685 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1325T>C (p.Met442Thr) single nucleotide variant not provided [RCV002722030] Chr9:114424425 [GRCh38]
Chr9:117186705 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1374C>G (p.Ala458=) single nucleotide variant not provided [RCV002583435] Chr9:114424376 [GRCh38]
Chr9:117186656 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.443C>T (p.Ala148Val) single nucleotide variant not provided [RCV002680895] Chr9:114504359 [GRCh38]
Chr9:117266639 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2491G>A (p.Glu831Lys) single nucleotide variant not provided [RCV003066767] Chr9:114403267 [GRCh38]
Chr9:117165547 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.168G>A (p.Glu56=) single nucleotide variant not provided [RCV002635061] Chr9:114504634 [GRCh38]
Chr9:117266914 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.112A>G (p.Asn38Asp) single nucleotide variant not provided [RCV002814822] Chr9:114504690 [GRCh38]
Chr9:117266970 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.511G>A (p.Val171Met) single nucleotide variant not provided [RCV002653497] Chr9:114504291 [GRCh38]
Chr9:117266571 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1110C>T (p.Asp370=) single nucleotide variant not provided [RCV002653745] Chr9:114426267 [GRCh38]
Chr9:117188547 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1410C>T (p.His470=) single nucleotide variant not provided [RCV002634438] Chr9:114424340 [GRCh38]
Chr9:117186620 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.1377C>T (p.Leu459=) single nucleotide variant not provided [RCV002604294] Chr9:114424373 [GRCh38]
Chr9:117186653 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2476C>T (p.Leu826=) single nucleotide variant not provided [RCV002590248] Chr9:114403282 [GRCh38]
Chr9:117165562 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.35C>A (p.Ser12Ter) single nucleotide variant Usher syndrome type 2D [RCV003225602] Chr9:114504767 [GRCh38]
Chr9:117267047 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1619C>T (p.Ser540Leu) single nucleotide variant not provided [RCV003321345] Chr9:114423321 [GRCh38]
Chr9:117185601 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1577G>C (p.Gly526Ala) single nucleotide variant not provided [RCV003325748] Chr9:114423363 [GRCh38]
Chr9:117185643 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.683A>G (p.Tyr228Cys) single nucleotide variant not provided [RCV003332500] Chr9:114478707 [GRCh38]
Chr9:117240987 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2351C>G (p.Ser784Cys) single nucleotide variant not provided [RCV003332653] Chr9:114403963 [GRCh38]
Chr9:117166243 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1203+2T>C single nucleotide variant not provided [RCV003332558] Chr9:114424986 [GRCh38]
Chr9:117187266 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2237-17C>T single nucleotide variant not provided [RCV003875642] Chr9:114404094 [GRCh38]
Chr9:117166374 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1928A>T (p.Gln643Leu) single nucleotide variant not provided [RCV003570456] Chr9:114406663 [GRCh38]
Chr9:117168943 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.838-11C>T single nucleotide variant not provided [RCV003569438] Chr9:114466403 [GRCh38]
Chr9:117228683 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1817del (p.Asp606fs) deletion Usher syndrome [RCV003389553] Chr9:114406774 [GRCh38]
Chr9:117169054 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1432G>A (p.Glu478Lys) single nucleotide variant not provided [RCV003688765] Chr9:114423508 [GRCh38]
Chr9:117185788 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1096C>T (p.Arg366Cys) single nucleotide variant not provided [RCV003829152] Chr9:114426281 [GRCh38]
Chr9:117188561 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2397C>T (p.Pro799=) single nucleotide variant not provided [RCV003690052] Chr9:114403917 [GRCh38]
Chr9:117166197 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.73_88del (p.Gly25fs) deletion not provided [RCV003827210] Chr9:114504714..114504729 [GRCh38]
Chr9:117266994..117267009 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2223G>C (p.Leu741=) single nucleotide variant not provided [RCV003662787] Chr9:114406368 [GRCh38]
Chr9:117168648 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.837+7G>A single nucleotide variant not provided [RCV003713065] Chr9:114478546 [GRCh38]
Chr9:117240826 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.717G>A (p.Pro239=) single nucleotide variant not provided [RCV003715268] Chr9:114478673 [GRCh38]
Chr9:117240953 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.979C>T (p.Leu327=) single nucleotide variant not provided [RCV003713774] Chr9:114426398 [GRCh38]
Chr9:117188678 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.315C>T (p.Leu105=) single nucleotide variant not provided [RCV003548853] Chr9:114504487 [GRCh38]
Chr9:117266767 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.444C>T (p.Ala148=) single nucleotide variant not provided [RCV003664050] Chr9:114504358 [GRCh38]
Chr9:117266638 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2237-16del deletion not provided [RCV003672509] Chr9:114404093 [GRCh38]
Chr9:117166373 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1627-13C>T single nucleotide variant not provided [RCV003832012] Chr9:114408031 [GRCh38]
Chr9:117170311 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.837+10G>A single nucleotide variant not provided [RCV003665523] Chr9:114478543 [GRCh38]
Chr9:117240823 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1566C>T (p.Tyr522=) single nucleotide variant not provided [RCV003855859] Chr9:114423374 [GRCh38]
Chr9:117185654 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2613G>A (p.Thr871=) single nucleotide variant not provided [RCV003558907] Chr9:114402865 [GRCh38]
Chr9:117165145 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2542-8C>G single nucleotide variant not provided [RCV003700259] Chr9:114402944 [GRCh38]
Chr9:117165224 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1527A>G (p.Pro509=) single nucleotide variant not provided [RCV003837960] Chr9:114423413 [GRCh38]
Chr9:117185693 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2118_2121del (p.Ser707fs) deletion not provided [RCV003835133] Chr9:114406470..114406473 [GRCh38]
Chr9:117168750..117168753 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2220G>T (p.Ala740=) single nucleotide variant not provided [RCV003663843] Chr9:114406371 [GRCh38]
Chr9:117168651 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1203+8A>G single nucleotide variant not provided [RCV003705211] Chr9:114424980 [GRCh38]
Chr9:117187260 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.747C>G (p.Gly249=) single nucleotide variant not provided [RCV003858095] Chr9:114478643 [GRCh38]
Chr9:117240923 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2262G>A (p.Ser754=) single nucleotide variant not provided [RCV003860534] Chr9:114404052 [GRCh38]
Chr9:117166332 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.258C>T (p.Val86=) single nucleotide variant not provided [RCV003683091] Chr9:114504544 [GRCh38]
Chr9:117266824 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.552C>T (p.Val184=) single nucleotide variant not provided [RCV003676746] Chr9:114504250 [GRCh38]
Chr9:117266530 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1699-17G>C single nucleotide variant not provided [RCV003704738] Chr9:114406909 [GRCh38]
Chr9:117169189 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.141C>A (p.Thr47=) single nucleotide variant not provided [RCV003567279] Chr9:114504661 [GRCh38]
Chr9:117266941 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1629C>T (p.Asn543=) single nucleotide variant not provided [RCV003840817] Chr9:114408016 [GRCh38]
Chr9:117170296 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1329C>T (p.Ala443=) single nucleotide variant not provided [RCV003568050] Chr9:114424421 [GRCh38]
Chr9:117186701 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.228C>T (p.Arg76=) single nucleotide variant not provided [RCV003562526] Chr9:114504574 [GRCh38]
Chr9:117266854 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2394G>A (p.Arg798=) single nucleotide variant not provided [RCV003870135] Chr9:114403920 [GRCh38]
Chr9:117166200 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1203+13C>G single nucleotide variant not provided [RCV003681508] Chr9:114424975 [GRCh38]
Chr9:117187255 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1519C>T (p.Gln507Ter) single nucleotide variant not provided [RCV003674565] Chr9:114423421 [GRCh38]
Chr9:117185701 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2451C>T (p.Val817=) single nucleotide variant not provided [RCV003862648] Chr9:114403307 [GRCh38]
Chr9:117165587 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.348G>T (p.Leu116=) single nucleotide variant not provided [RCV003846397] Chr9:114504454 [GRCh38]
Chr9:117266734 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.654G>A (p.Val218=) single nucleotide variant not provided [RCV003705088] Chr9:114478736 [GRCh38]
Chr9:117241016 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1977C>T (p.Pro659=) single nucleotide variant not provided [RCV003866319] Chr9:114406614 [GRCh38]
Chr9:117168894 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.774G>A (p.Leu258=) single nucleotide variant not provided [RCV003675045] Chr9:114478616 [GRCh38]
Chr9:117240896 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.619-18G>T single nucleotide variant not provided [RCV003675254] Chr9:114478789 [GRCh38]
Chr9:117241069 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.327C>A (p.Tyr109Ter) single nucleotide variant not provided [RCV003568240] Chr9:114504475 [GRCh38]
Chr9:117266755 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.302C>T (p.Ser101Phe) single nucleotide variant not specified [RCV004527118] Chr9:114504500 [GRCh38]
Chr9:117266780 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1323C>G (p.Thr441=) single nucleotide variant WHRN-related disorder [RCV003921713] Chr9:114424427 [GRCh38]
Chr9:117186707 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2140C>T (p.Gln714Ter) single nucleotide variant Usher syndrome type 2D [RCV003984994] Chr9:114406451 [GRCh38]
Chr9:117168731 [GRCh37]
Chr9:9q32		 likely pathogenic
NC_000009.11:g.(?_117166282)_(117171166_?)del deletion not provided [RCV004582122] Chr9:117166282..117171166 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.1416+7C>A single nucleotide variant WHRN-related disorder [RCV004758452] Chr9:114424327 [GRCh38]
Chr9:117186607 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1010T>A (p.Ile337Asn) single nucleotide variant not provided [RCV004773450] Chr9:114426367 [GRCh38]
Chr9:117188647 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2632C>T (p.Arg878Trp) single nucleotide variant not provided [RCV004772013] Chr9:114402846 [GRCh38]
Chr9:117165126 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2113_2114delinsTT (p.Pro705Phe) indel not provided [RCV004763785] Chr9:114406477..114406478 [GRCh38]
Chr9:117168757..117168758 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.385G>A (p.Gly129Ser) single nucleotide variant not provided [RCV004762942] Chr9:114504417 [GRCh38]
Chr9:117266697 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.971A>T (p.Asp324Val) single nucleotide variant not provided [RCV004761636] Chr9:114426406 [GRCh38]
Chr9:117188686 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2426T>C (p.Leu809Pro) single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005052961] Chr9:114403332 [GRCh38]
Chr9:117165612 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2430_2445del (p.Glu811fs) deletion Autosomal recessive nonsyndromic hearing loss 31 [RCV005052962] Chr9:114403313..114403328 [GRCh38]
Chr9:117165593..117165608 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.2418+1G>A single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005048886] Chr9:114403895 [GRCh38]
Chr9:117166175 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.618+2del deletion Autosomal recessive nonsyndromic hearing loss 31 [RCV005048887] Chr9:114504182 [GRCh38]
Chr9:117266462 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2238del (p.Ala747fs) deletion Autosomal recessive nonsyndromic hearing loss 31 [RCV005043751] Chr9:114404076 [GRCh38]
Chr9:117166356 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.2236+2T>G single nucleotide variant Autosomal recessive nonsyndromic hearing loss 31 [RCV005043752] Chr9:114406353 [GRCh38]
Chr9:117168633 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.1079G>C (p.Gly360Ala) single nucleotide variant not provided [RCV004820459] Chr9:114426298 [GRCh38]
Chr9:117188578 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.816_817delinsTT (p.Gln273Ter) indel Autosomal recessive nonsyndromic hearing loss 31 [RCV005043754] Chr9:114478573..114478574 [GRCh38]
Chr9:117240853..117240854 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.1584dup (p.Thr529fs) duplication Usher syndrome [RCV005088421] Chr9:114423355..114423356 [GRCh38]
Chr9:117185635..117185636 [GRCh37]
Chr9:9q32		 pathogenic
NM_015404.4(WHRN):c.1203+20del deletion not provided [RCV005087890] Chr9:114424968 [GRCh38]
Chr9:117187248 [GRCh37]
Chr9:9q32		 benign
NM_015404.4(WHRN):c.526C>T (p.Leu176=) single nucleotide variant not provided [RCV005121021] Chr9:114504276 [GRCh38]
Chr9:117266556 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1845C>G (p.Ser615=) single nucleotide variant not provided [RCV005108625] Chr9:114406746 [GRCh38]
Chr9:117169026 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1782C>T (p.Leu594=) single nucleotide variant not provided [RCV005116972] Chr9:114406809 [GRCh38]
Chr9:117169089 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2532C>G (p.Val844=) single nucleotide variant not provided [RCV005124226] Chr9:114403226 [GRCh38]
Chr9:117165506 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2021A>C (p.Gln674Pro) single nucleotide variant not provided [RCV005075732] Chr9:114406570 [GRCh38]
Chr9:117168850 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.2187C>T (p.Pro729=) single nucleotide variant not provided [RCV005071758] Chr9:114406404 [GRCh38]
Chr9:117168684 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1788A>G (p.Leu596=) single nucleotide variant not provided [RCV005072270] Chr9:114406803 [GRCh38]
Chr9:117169083 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1869T>C (p.Ala623=) single nucleotide variant not provided [RCV005152470] Chr9:114406722 [GRCh38]
Chr9:117169002 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1626+1G>A single nucleotide variant not provided [RCV005172768] Chr9:114423313 [GRCh38]
Chr9:117185593 [GRCh37]
Chr9:9q32		 likely pathogenic
NM_015404.4(WHRN):c.1683C>G (p.Leu561=) single nucleotide variant not provided [RCV005167869] Chr9:114407962 [GRCh38]
Chr9:117170242 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.744G>C (p.Ser248=) single nucleotide variant not provided [RCV005162824] Chr9:114478646 [GRCh38]
Chr9:117240926 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1134C>G (p.Ser378=) single nucleotide variant not provided [RCV005083848] Chr9:114426243 [GRCh38]
Chr9:117188523 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2561A>G (p.Asn854Ser) single nucleotide variant not provided [RCV005241915] Chr9:114402917 [GRCh38]
Chr9:117165197 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.1428C>T (p.Leu476=) single nucleotide variant not provided [RCV005180155] Chr9:114423512 [GRCh38]
Chr9:117185792 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.378C>A (p.Ala126=) single nucleotide variant not provided [RCV005194709] Chr9:114504424 [GRCh38]
Chr9:117266704 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.297G>A (p.Pro99=) single nucleotide variant not provided [RCV005076930] Chr9:114504505 [GRCh38]
Chr9:117266785 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1791C>A (p.Gly597=) single nucleotide variant not provided [RCV005078444] Chr9:114406800 [GRCh38]
Chr9:117169080 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.837+13G>A single nucleotide variant not provided [RCV005171842] Chr9:114478540 [GRCh38]
Chr9:117240820 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.303C>G (p.Ser101=) single nucleotide variant not provided [RCV005159787] Chr9:114504499 [GRCh38]
Chr9:117266779 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.570C>A (p.Arg190=) single nucleotide variant not provided [RCV005161368] Chr9:114504232 [GRCh38]
Chr9:117266512 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.810C>T (p.His270=) single nucleotide variant not provided [RCV005174811] Chr9:114478580 [GRCh38]
Chr9:117240860 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.838-15C>T single nucleotide variant not provided [RCV005145307] Chr9:114466407 [GRCh38]
Chr9:117228687 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.408G>A (p.Gly136=) single nucleotide variant not provided [RCV005191599] Chr9:114504394 [GRCh38]
Chr9:117266674 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.268C>T (p.Leu90=) single nucleotide variant not provided [RCV005169599] Chr9:114504534 [GRCh38]
Chr9:117266814 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.964-5G>T single nucleotide variant not provided [RCV005152127] Chr9:114426418 [GRCh38]
Chr9:117188698 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1204-9G>C single nucleotide variant not provided [RCV005163556] Chr9:114424555 [GRCh38]
Chr9:117186835 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1425C>T (p.Leu475=) single nucleotide variant not provided [RCV005171882] Chr9:114423515 [GRCh38]
Chr9:117185795 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1033C>T (p.Leu345=) single nucleotide variant not provided [RCV005194508] Chr9:114426344 [GRCh38]
Chr9:117188624 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2586C>T (p.His862=) single nucleotide variant not provided [RCV005165278] Chr9:114402892 [GRCh38]
Chr9:117165172 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.570C>T (p.Arg190=) single nucleotide variant not provided [RCV005173122] Chr9:114504232 [GRCh38]
Chr9:117266512 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.22C>T (p.Leu8=) single nucleotide variant not provided [RCV005159555] Chr9:114504780 [GRCh38]
Chr9:117267060 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.1899C>T (p.Thr633=) single nucleotide variant not provided [RCV005166908] Chr9:114406692 [GRCh38]
Chr9:117168972 [GRCh37]
Chr9:9q32		 likely benign
NM_015404.4(WHRN):c.2660C>G (p.Ala887Gly) single nucleotide variant not provided [RCV005256102] Chr9:114402818 [GRCh38]
Chr9:117165098 [GRCh37]
Chr9:9q32		 uncertain significance
NM_015404.4(WHRN):c.63G>A (p.Ala21=) single nucleotide variant not provided [RCV005429998] Chr9:114504739 [GRCh38]
Chr9:117267019 [GRCh37]
Chr9:9q32		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2027
Count of miRNA genes:599
Interacting mature miRNAs:664
Transcripts:ENST00000265134, ENST00000362057, ENST00000374057, ENST00000374059, ENST00000480518
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
597069078GWAS1165152_Htotal cholesterol measurement QTL GWAS1165152 (human)0.0000003blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)9114415286114415287Human
597069079GWAS1165153_Htotal cholesterol measurement QTL GWAS1165153 (human)2e-08blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)9114415286114415287Human
407189959GWAS838935_Hlipid measurement QTL GWAS838935 (human)4e-16lipid measurement9114424874114424875Human
407174977GWAS823953_Hserum alanine aminotransferase measurement QTL GWAS823953 (human)5e-31serum alanine aminotransferase measurement9114428469114428470Human
597223825GWAS1319899_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1319899 (human)1e-24aspartate aminotransferase to alanine aminotransferase ratio9114428469114428470Human
597133339GWAS1229413_Hdiastolic blood pressure QTL GWAS1229413 (human)9e-15arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114403966114403967Human
407081165GWAS730141_Htotal cholesterol measurement QTL GWAS730141 (human)2e-08total cholesterol measurement9114415286114415287Human
628791796GWAS2700025_Hserum alanine aminotransferase amount QTL GWAS2700025 (human)5e-31serum alanine aminotransferase amount9114428469114428470Human
616377779GWAS1858021_Hobsolete_CCL2 measurement QTL GWAS1858021 (human)2e-08obsolete_CCL2 measurement9114478626114478627Human
407081164GWAS730140_Htotal cholesterol measurement QTL GWAS730140 (human)0.0000003total cholesterol measurement9114415286114415287Human
628712438GWAS2620667_Hlipid measurement QTL GWAS2620667 (human)2e-14lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)9114424874114424875Human
628937331GWAS2845560_Hskull disorder QTL GWAS2845560 (human)6e-12skull disorder9114472473114472474Human
596966661GWAS1086180_Hdiastolic blood pressure QTL GWAS1086180 (human)5e-08diastolic blood pressure9114410027114410028Human
598084151GWAS1803450_Hbone density QTL GWAS1803450 (human)1e-16bone density9114441410114441411Human
407029075GWAS678051_HCCL2 measurement QTL GWAS678051 (human)2e-08CCL2 measurement9114478626114478627Human
628712426GWAS2620655_Hlipid measurement QTL GWAS2620655 (human)4e-16lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)9114424874114424875Human
407273685GWAS922661_Hglucocorticoid receptor gene expression measurement QTL GWAS922661 (human)0.000006glucocorticoid receptor gene expression measurement9114437860114437861Human
407254226GWAS903202_Halkaline phosphatase measurement QTL GWAS903202 (human)9e-09alkaline phosphatase measurement9114428084114428085Human
628843244GWAS2751473_Hcoagulation factor XA measurement QTL GWAS2751473 (human)2e-11blood coagulation trait (VT:0002551)9114412984114412985Human
407191762GWAS840738_Hlipid measurement QTL GWAS840738 (human)4e-17lipid measurement9114425397114425398Human
616487465GWAS1884048_Hserum alanine aminotransferase amount QTL GWAS1884048 (human)5e-31serum alanine aminotransferase amount9114428469114428470Human
597023501GWAS1119575_Hlow density lipoprotein cholesterol measurement QTL GWAS1119575 (human)0.0000006blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)9114415286114415287Human
628707169GWAS2615398_Hlipid measurement QTL GWAS2615398 (human)2e-12lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)9114424874114424875Human
597023500GWAS1119574_Hlow density lipoprotein cholesterol measurement QTL GWAS1119574 (human)0.000002blood LDL cholesterol amount (VT:0000181)blood low density lipoprotein cholesterol level (CMO:0000053)9114415286114415287Human
628706788GWAS2615017_Hlipid measurement QTL GWAS2615017 (human)4e-17lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)9114425397114425398Human
616384547GWAS1864789_Htestosterone measurement QTL GWAS1864789 (human)3e-09testosterone measurement9114425289114425290Human
407331288GWAS980264_Hdiastolic blood pressure QTL GWAS980264 (human)2e-12diastolic blood pressure9114410027114410028Human
597316794GWAS1412868_Hdiastolic blood pressure QTL GWAS1412868 (human)5e-08diastolic blood pressure9114410027114410028Human
407413099GWAS1062075_Hdiastolic blood pressure QTL GWAS1062075 (human)1e-10diastolic blood pressure9114406753114406754Human
628510046GWAS2418275_Hdiastolic blood pressure QTL GWAS2418275 (human)6e-14arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114403966114403967Human
616497559GWAS1894142_Hgene expression attribute QTL GWAS1894142 (human)0.000006gene expression attribute9114437860114437861Human
628510047GWAS2418276_Hdiastolic blood pressure QTL GWAS2418276 (human)1e-10arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114406753114406754Human
628927317GWAS2835546_Htestosterone measurement QTL GWAS2835546 (human)3e-09blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)9114425289114425290Human
407193833GWAS842809_Hlipid measurement QTL GWAS842809 (human)2e-14lipid measurement9114424874114424875Human
597460785GWAS1556859_Hdiastolic blood pressure QTL GWAS1556859 (human)7e-13diastolic blood pressure9114410027114410028Human
597089592GWAS1185666_Hglucocorticoid receptor gene expression measurement QTL GWAS1185666 (human)0.000006glucocorticoid receptor gene expression measurement9114437860114437861Human
407357815GWAS1006791_Hdiastolic blood pressure QTL GWAS1006791 (human)5e-15diastolic blood pressure9114403966114403967Human
597329962GWAS1426036_Hdiastolic blood pressure QTL GWAS1426036 (human)6e-14diastolic blood pressure9114403966114403967Human
628791114GWAS2699343_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS2699343 (human)1e-24aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)9114428469114428470Human
597329963GWAS1426037_Hdiastolic blood pressure QTL GWAS1426037 (human)1e-10diastolic blood pressure9114406753114406754Human
628518852GWAS2427081_Hdiastolic blood pressure QTL GWAS2427081 (human)7e-13arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114410027114410028Human
406972147GWAS621123_Hinterleukin-6 measurement QTL GWAS621123 (human)0.000005interleukin-6 measurement9114426913114426914Human
597254189GWAS1350263_Haspartate aminotransferase measurement QTL GWAS1350263 (human)1e-12aspartate aminotransferase measurement9114428469114428470Human
407362417GWAS1011393_Hdiastolic blood pressure QTL GWAS1011393 (human)6e-14diastolic blood pressure9114403966114403967Human
628689476GWAS2597705_Hdiastolic blood pressure QTL GWAS2597705 (human)5e-08arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114410027114410028Human
628787515GWAS2695744_Haspartate aminotransferase measurement QTL GWAS2695744 (human)1e-12blood aspartate transaminase amount (VT:0000203)blood aspartate aminotransferase activity level (CMO:0000580)9114428469114428470Human
597168346GWAS1264420_Halkaline phosphatase measurement QTL GWAS1264420 (human)9e-09alkaline phosphatase measurement9114428084114428085Human
407297285GWAS946261_Hcoagulation factor XA measurement QTL GWAS946261 (human)2e-11coagulation factor XA measurement9114412984114412985Human
406910723GWAS559699_Hbipolar disorder QTL GWAS559699 (human)0.000009bipolar disorder9114498554114498555Human
407186177GWAS835153_Hlipid measurement QTL GWAS835153 (human)2e-12lipid measurement9114424874114424875Human
628935354GWAS2843583_Hbody weight QTL GWAS2843583 (human)2e-08body mass (VT:0001259)body weight (CMO:0000012)9114411844114411845Human
597396445GWAS1492519_Hlipid measurement QTL GWAS1492519 (human)4e-17lipid measurement9114425397114425398Human
597268574GWAS1364648_Hdiastolic blood pressure QTL GWAS1364648 (human)2e-12diastolic blood pressure9114410027114410028Human
626463504GWAS2277437_Hbody weight QTL GWAS2277437 (human)2e-08body weight9114411844114411845Human
628605758GWAS2513987_Halkaline phosphatase measurement QTL GWAS2513987 (human)9e-09blood alkaline phosphatase amount (VT:0000202)blood alkaline phosphatase activity level (CMO:0000576)9114428084114428085Human
406906121GWAS555097_Hoverall survival, pancreatic carcinoma QTL GWAS555097 (human)0.000007overall survival, pancreatic carcinoma9114439119114439120Human
616567307GWAS1963890_Hlevel of alpha-1-acid glycoprotein 1 in blood QTL GWAS1963890 (human)2e-16level of alpha-1-acid glycoprotein 1 in blood9114408553114408554Human
616389750GWAS1869992_Htestosterone measurement QTL GWAS1869992 (human)8e-10testosterone measurement9114425289114425290Human
616567310GWAS1963893_Hlevel of alpha-1-acid glycoprotein 1 in blood QTL GWAS1963893 (human)6e-71level of alpha-1-acid glycoprotein 1 in blood9114403083114403084Human
616567311GWAS1963894_Hlevel of alpha-1-acid glycoprotein 1 in blood QTL GWAS1963894 (human)5e-21level of alpha-1-acid glycoprotein 1 in blood9114499319114499320Human
616473834GWAS1870417_HC-C motif chemokine 2 level QTL GWAS1870417 (human)2e-08C-C motif chemokine 2 level9114478626114478627Human
407416093GWAS1065069_Hdiastolic blood pressure QTL GWAS1065069 (human)9e-15diastolic blood pressure9114403966114403967Human
597602635GWAS1659495_Htype 2 diabetes mellitus QTL GWAS1659495 (human)4e-10type 2 diabetes mellitus9114425289114425290Human
407187472GWAS836448_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS836448 (human)1e-24aspartate aminotransferase to alanine aminotransferase ratio9114428469114428470Human
598027248GWAS1746547_Hocular hypotension QTL GWAS1746547 (human)8e-12ocular hypotension9114469450114469451Human
617132190GWAS2149689_Hlevel of alpha-1-acid glycoprotein 1 in blood QTL GWAS2149689 (human)6e-71level of alpha-1-acid glycoprotein 1 in blood9114403083114403084Human
597338956GWAS1435030_Hdiastolic blood pressure QTL GWAS1435030 (human)5e-15diastolic blood pressure9114403966114403967Human
597338957GWAS1435031_Hdiastolic blood pressure QTL GWAS1435031 (human)1e-11diastolic blood pressure9114406753114406754Human
628912555GWAS2820784_Htestosterone measurement QTL GWAS2820784 (human)8e-10blood testosterone amount (VT:0005180)serum testosterone level (CMO:0000568)9114425289114425290Human
628938660GWAS2846889_Hocular hypotension QTL GWAS2846889 (human)8e-12ocular hypotension9114469450114469451Human
628898085GWAS2806314_Hdiastolic blood pressure QTL GWAS2806314 (human)2e-12arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114410027114410028Human
597306563GWAS1402637_Hlipid measurement QTL GWAS1402637 (human)2e-12lipid measurement9114424874114424875Human
597022028GWAS1118102_Hinterleukin-6 measurement QTL GWAS1118102 (human)0.000005blood interleukin-6 amount (VT:0008595)blood interleukin-6 level (CMO:0001926)9114426913114426914Human
597247686GWAS1343760_Hserum alanine aminotransferase measurement QTL GWAS1343760 (human)5e-31serum alanine aminotransferase measurement9114428469114428470Human
598140486GWAS1827214_Hbone tissue density QTL GWAS1827214 (human)1e-16bone tissue density9114441410114441411Human
628509076GWAS2417305_Hdiastolic blood pressure QTL GWAS2417305 (human)1e-11arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114406753114406754Human
407193511GWAS842487_Hlipid measurement QTL GWAS842487 (human)6e-14lipid measurement9114424874114424875Human
407233447GWAS882423_Hbone density QTL GWAS882423 (human)1e-16bone density9114441410114441411Human
597306873GWAS1402947_Hlipid measurement QTL GWAS1402947 (human)2e-14lipid measurement9114424874114424875Human
597065461GWAS1161535_Hoverall survival, pancreatic carcinoma QTL GWAS1161535 (human)0.000007pancreas integrity trait (VT:0010560)9114439119114439120Human
628509075GWAS2417304_Hdiastolic blood pressure QTL GWAS2417304 (human)5e-15arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)9114403966114403967Human
597593337GWAS1650197_Hskull disorder QTL GWAS1650197 (human)6e-12skull disorder9114472473114472474Human
597306865GWAS1402939_Hlipid measurement QTL GWAS1402939 (human)4e-16lipid measurement9114424874114424875Human
616369491GWAS1849733_Hobsolete_serum alanine aminotransferase measurement QTL GWAS1849733 (human)5e-31obsolete_serum alanine aminotransferase measurement9114428469114428470Human
407409336GWAS1058312_Hdiastolic blood pressure QTL GWAS1058312 (human)1e-11diastolic blood pressure9114406753114406754Human
597274473GWAS1370547_Hcoagulation factor XA measurement QTL GWAS1370547 (human)2e-11coagulation factor XA measurement9114412984114412985Human
407187505GWAS836481_Haspartate aminotransferase measurement QTL GWAS836481 (human)1e-12aspartate aminotransferase measurement9114428469114428470Human
597306607GWAS1402681_Hlipid measurement QTL GWAS1402681 (human)6e-14lipid measurement9114424874114424875Human
628713103GWAS2621332_Hlipid measurement QTL GWAS2621332 (human)6e-14lipid amount (VT:0001547)blood lipid measurement (CMO:0000050)9114424874114424875Human
406910903GWAS559879_Hlow density lipoprotein cholesterol measurement QTL GWAS559879 (human)0.000002low density lipoprotein cholesterol measurement9114415286114415287Human
597352429GWAS1448503_Hbone density QTL GWAS1448503 (human)1e-16bone density9114441410114441411Human
406910904GWAS559880_Hlow density lipoprotein cholesterol measurement QTL GWAS559880 (human)0.0000006low density lipoprotein cholesterol measurement9114415286114415287Human
407086010GWAS734986_Htotal cholesterol measurement QTL GWAS734986 (human)8e-11blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)9114403966114403967Human
407086015GWAS734991_Htotal cholesterol measurement QTL GWAS734991 (human)4e-08blood cholesterol amount (VT:0000180)blood total cholesterol level (CMO:0000051)9114403966114403967Human
597986648GWAS1705947_Hobsolete_glucocorticoid receptor gene expression measurement QTL GWAS1705947 (human)0.000006obsolete_glucocorticoid receptor gene expression measurement9114437860114437861Human

Markers in Region
D9S1824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379116,892,105 - 116,892,222UniSTSGRCh37
Build 369115,931,926 - 115,932,043RGDNCBI36
Celera987,539,998 - 87,540,119RGD
Cytogenetic Map9q32UniSTS
HuRef986,498,514 - 86,498,635UniSTS
Marshfield Genetic Map9122.23RGD
Marshfield Genetic Map9122.23UniSTS
Genethon Genetic Map9122.6UniSTS
deCODE Assembly Map9120.37UniSTS
Stanford-G3 RH Map93890.0UniSTS
GeneMap99-G3 RH Map93788.0UniSTS
D9S1776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,959,434 - 117,959,552UniSTSGRCh37
Build 369116,999,255 - 116,999,373RGDNCBI36
Celera988,606,696 - 88,606,812RGD
Cytogenetic Map9q32UniSTS
Cytogenetic Map9qUniSTS
HuRef987,564,846 - 87,564,960UniSTS
Marshfield Genetic Map9123.33UniSTS
Marshfield Genetic Map9123.33RGD
Genethon Genetic Map9124.2UniSTS
deCODE Assembly Map9121.62UniSTS
D9S1682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379124,993,185 - 124,993,386UniSTSGRCh37
Build 369124,033,006 - 124,033,207RGDNCBI36
Celera995,641,492 - 95,641,695RGD
Cytogenetic Map9q32UniSTS
HuRef994,607,855 - 94,608,062UniSTS
Marshfield Genetic Map9132.09UniSTS
Marshfield Genetic Map9132.09RGD
Genethon Genetic Map9132.9UniSTS
deCODE Assembly Map9128.77UniSTS
RH99310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,164,636 - 117,164,802UniSTSGRCh37
Build 369116,204,457 - 116,204,623RGDNCBI36
Celera987,812,290 - 87,812,456RGD
Cytogenetic Map9q32UniSTS
HuRef986,769,967 - 86,770,133UniSTS
GeneMap99-GB4 RH Map9357.94UniSTS
D9S314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,187,791 - 117,187,961UniSTSGRCh37
Build 369116,227,612 - 116,227,782RGDNCBI36
Celera987,835,444 - 87,835,622RGD
Cytogenetic Map9q32UniSTS
HuRef986,793,124 - 86,793,298UniSTS
SHGC-145040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,197,943 - 117,198,249UniSTSGRCh37
Build 369116,237,764 - 116,238,070RGDNCBI36
Celera987,845,615 - 87,845,911RGD
Cytogenetic Map9q32UniSTS
HuRef986,803,291 - 86,803,587UniSTS
TNG Radiation Hybrid Map557864.0UniSTS
SHGC-145954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,176,847 - 117,177,151UniSTSGRCh37
Build 369116,216,668 - 116,216,972RGDNCBI36
Celera987,824,500 - 87,824,804RGD
Cytogenetic Map9q32UniSTS
HuRef986,782,179 - 86,782,483UniSTS
TNG Radiation Hybrid Map557870.0UniSTS
SHGC-154470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,229,742 - 117,230,066UniSTSGRCh37
Build 369116,269,563 - 116,269,887RGDNCBI36
Celera987,877,409 - 87,877,733RGD
Cytogenetic Map9q32UniSTS
HuRef986,834,993 - 86,835,317UniSTS
SHGC-156144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,201,152 - 117,201,433UniSTSGRCh37
Build 369116,240,973 - 116,241,254RGDNCBI36
Celera987,848,814 - 87,849,097RGD
Cytogenetic Map9q32UniSTS
HuRef986,806,490 - 86,806,773UniSTS
D9S2024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,227,052 - 117,227,177UniSTSGRCh37
Build 369116,266,873 - 116,266,998RGDNCBI36
Celera987,874,719 - 87,874,844RGD
Cytogenetic Map9q32UniSTS
HuRef986,832,315 - 86,832,428UniSTS
TNG Radiation Hybrid Map557854.0UniSTS
Stanford-G3 RH Map93907.0UniSTS
DFNB31_4698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379117,164,171 - 117,165,078UniSTSGRCh37
Build 369116,203,992 - 116,204,899RGDNCBI36
Celera987,811,825 - 87,812,732RGD
HuRef986,769,502 - 86,770,409UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2246 4971 1726 2351 5 624 1898 465 2269 7250 6417 52 3730 1 852 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_929757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB040959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL557526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF969269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX329269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA502065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265134   ⟹   ENSP00000265134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,080 - 114,503,173 (-)Ensembl
Ensembl Acc Id: ENST00000362057   ⟹   ENSP00000354623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,080 - 114,505,473 (-)Ensembl
Ensembl Acc Id: ENST00000374057   ⟹   ENSP00000363170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,478,321 - 114,505,450 (-)Ensembl
Ensembl Acc Id: ENST00000480518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,503,551 - 114,504,339 (-)Ensembl
Ensembl Acc Id: ENST00000673697   ⟹   ENSP00000501152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,504,740 - 114,505,473 (-)Ensembl
Ensembl Acc Id: ENST00000673811
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,406,641 - 114,504,549 (-)Ensembl
Ensembl Acc Id: ENST00000674036   ⟹   ENSP00000501297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,078 - 114,504,801 (-)Ensembl
Ensembl Acc Id: ENST00000674048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,081 - 114,426,071 (-)Ensembl
Ensembl Acc Id: ENST00000699485   ⟹   ENSP00000514396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,080 - 114,406,934 (-)Ensembl
Ensembl Acc Id: ENST00000699486   ⟹   ENSP00000514397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,419,522 - 114,504,801 (-)Ensembl
Ensembl Acc Id: ENST00000866780   ⟹   ENSP00000536839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,079 - 114,505,476 (-)Ensembl
Ensembl Acc Id: ENST00000866781   ⟹   ENSP00000536840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,080 - 114,505,219 (-)Ensembl
Ensembl Acc Id: ENST00000929558   ⟹   ENSP00000599617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,079 - 114,505,525 (-)Ensembl
Ensembl Acc Id: ENST00000929559   ⟹   ENSP00000599618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,082 - 114,505,507 (-)Ensembl
Ensembl Acc Id: ENST00000929560   ⟹   ENSP00000599619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,082 - 114,505,503 (-)Ensembl
Ensembl Acc Id: ENST00000929561   ⟹   ENSP00000599620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9114,402,085 - 114,504,971 (-)Ensembl
RefSeq Acc Id: NM_001083885   ⟹   NP_001077354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,503,215 (-)NCBI
GRCh379117,164,360 - 117,267,789 (-)NCBI
Build 369116,204,181 - 116,305,316 (-)NCBI Archive
HuRef986,769,691 - 86,872,943 (-)ENTREZGENE
CHM1_19117,311,097 - 117,412,203 (-)NCBI
T2T-CHM13v2.09126,594,499 - 126,695,607 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001173425   ⟹   NP_001166896
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
GRCh379117,164,360 - 117,267,789 (-)NCBI
HuRef986,769,691 - 86,872,943 (-)ENTREZGENE
CHM1_19117,311,097 - 117,414,443 (-)NCBI
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346890   ⟹   NP_001333819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,081 - 114,426,168 (-)NCBI
T2T-CHM13v2.09126,594,500 - 126,618,597 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015404   ⟹   NP_056219
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
GRCh379117,164,360 - 117,267,789 (-)NCBI
Build 369116,204,181 - 116,307,551 (-)NCBI Archive
HuRef986,769,691 - 86,872,943 (-)ENTREZGENE
CHM1_19117,311,097 - 117,414,443 (-)NCBI
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518485   ⟹   XP_011516787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518486   ⟹   XP_011516788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518487   ⟹   XP_011516789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518491   ⟹   XP_011516793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,419,796 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518492   ⟹   XP_011516794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,407,964 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011518494   ⟹   XP_011516796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,422,090 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423161   ⟹   XP_047279117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423163   ⟹   XP_047279119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423164   ⟹   XP_047279120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423165   ⟹   XP_047279121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423166   ⟹   XP_047279122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423167   ⟹   XP_047279123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423168   ⟹   XP_047279124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423169   ⟹   XP_047279125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,402,080 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423170   ⟹   XP_047279126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,406,355 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423171   ⟹   XP_047279127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,406,355 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423173   ⟹   XP_047279129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,509 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_047423174   ⟹   XP_047279130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,509 - 114,505,473 (-)NCBI
RefSeq Acc Id: XM_054362638   ⟹   XP_054218613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362639   ⟹   XP_054218614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362640   ⟹   XP_054218615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362641   ⟹   XP_054218616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362642   ⟹   XP_054218617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362643   ⟹   XP_054218618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362644   ⟹   XP_054218619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362645   ⟹   XP_054218620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362646   ⟹   XP_054218621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,594,499 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362647   ⟹   XP_054218622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,598,772 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362648   ⟹   XP_054218623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,598,772 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362649   ⟹   XP_054218624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,933 - 126,697,201 (-)NCBI
RefSeq Acc Id: XM_054362650   ⟹   XP_054218625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,612,220 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362651   ⟹   XP_054218626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,600,387 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362652   ⟹   XP_054218627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,614,514 - 126,697,864 (-)NCBI
RefSeq Acc Id: XM_054362653   ⟹   XP_054218628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,933 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487973
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,603,320 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487974
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,600,372 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487975
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,858 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487976
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,865 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487977
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,933 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487978
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,609,864 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_008487979
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09126,599,290 - 126,697,864 (-)NCBI
RefSeq Acc Id: XR_929749
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,410,894 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929750
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,407,949 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929752
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,434 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929753
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,509 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929754
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,441 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929755
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,509 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929756
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,417,440 - 114,505,473 (-)NCBI
Sequence:
RefSeq Acc Id: XR_929757
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,406,873 - 114,505,473 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001077354 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166896 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333819 (Get FASTA)   NCBI Sequence Viewer  
  NP_056219 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516787 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516788 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516789 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516793 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516794 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516796 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279117 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279119 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279121 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279122 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279123 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279124 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279125 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279126 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279127 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279129 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218613 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218614 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218615 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218616 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218617 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218618 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218621 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218622 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218623 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218624 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218625 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218626 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218627 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218628 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI36417 (Get FASTA)   NCBI Sequence Viewer  
  AAI42615 (Get FASTA)   NCBI Sequence Viewer  
  AAI42685 (Get FASTA)   NCBI Sequence Viewer  
  BAA96050 (Get FASTA)   NCBI Sequence Viewer  
  BAB14275 (Get FASTA)   NCBI Sequence Viewer  
  CAB53685 (Get FASTA)   NCBI Sequence Viewer  
  EAW87420 (Get FASTA)   NCBI Sequence Viewer  
  EAW87421 (Get FASTA)   NCBI Sequence Viewer  
  EAW87422 (Get FASTA)   NCBI Sequence Viewer  
  EAW87423 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265134
  ENSP00000265134.6
  ENSP00000354623
  ENSP00000354623.3
  ENSP00000363170.3
  ENSP00000501297
  ENSP00000514397
  ENSP00000536839
  ENSP00000536840
  ENSP00000599617
  ENSP00000599619
GenBank Protein Q9P202 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001166896   ⟸   NM_001173425
- Peptide Label: isoform 3
- UniProtKB: B9EGE6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_056219   ⟸   NM_015404
- Peptide Label: isoform 1
- UniProtKB: Q5TAV0 (UniProtKB/Swiss-Prot),   Q5TAU9 (UniProtKB/Swiss-Prot),   A5PKZ9 (UniProtKB/Swiss-Prot),   A5PKU1 (UniProtKB/Swiss-Prot),   A0A0C4DFT9 (UniProtKB/Swiss-Prot),   Q9UFZ3 (UniProtKB/Swiss-Prot),   Q9P202 (UniProtKB/Swiss-Prot),   Q9H9F4 (UniProtKB/Swiss-Prot),   Q96MZ9 (UniProtKB/Swiss-Prot),   Q5TAV2 (UniProtKB/Swiss-Prot),   Q5TAV1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001077354   ⟸   NM_001083885
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_011516789   ⟸   XM_011518487
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011516788   ⟸   XM_011518486
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516787   ⟸   XM_011518485
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011516794   ⟸   XM_011518492
- Peptide Label: isoform X15
- UniProtKB: A0A8V8TQ31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516793   ⟸   XM_011518491
- Peptide Label: isoform X15
- UniProtKB: A0A8V8TQ31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011516796   ⟸   XM_011518494
- Peptide Label: isoform X16
- Sequence:
RefSeq Acc Id: NP_001333819   ⟸   NM_001346890
- Peptide Label: isoform 4 precursor
- Sequence:
Ensembl Acc Id: ENSP00000501152   ⟸   ENST00000673697
Ensembl Acc Id: ENSP00000501297   ⟸   ENST00000674036
Ensembl Acc Id: ENSP00000363170   ⟸   ENST00000374057
Ensembl Acc Id: ENSP00000354623   ⟸   ENST00000362057
Ensembl Acc Id: ENSP00000265134   ⟸   ENST00000265134
RefSeq Acc Id: XP_047279124   ⟸   XM_047423168
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047279121   ⟸   XM_047423165
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047279120   ⟸   XM_047423164
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279122   ⟸   XM_047423166
- Peptide Label: isoform X8
- UniProtKB: A0A669KBJ1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279119   ⟸   XM_047423163
- Peptide Label: isoform X4
- UniProtKB: B9EGE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279117   ⟸   XM_047423161
- Peptide Label: isoform X3
- UniProtKB: Q9UFZ3 (UniProtKB/Swiss-Prot),   Q9P202 (UniProtKB/Swiss-Prot),   Q9H9F4 (UniProtKB/Swiss-Prot),   Q96MZ9 (UniProtKB/Swiss-Prot),   Q5TAV2 (UniProtKB/Swiss-Prot),   Q5TAV1 (UniProtKB/Swiss-Prot),   Q5TAV0 (UniProtKB/Swiss-Prot),   Q5TAU9 (UniProtKB/Swiss-Prot),   A5PKZ9 (UniProtKB/Swiss-Prot),   A5PKU1 (UniProtKB/Swiss-Prot),   A0A0C4DFT9 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279125   ⟸   XM_047423169
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047279123   ⟸   XM_047423167
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279127   ⟸   XM_047423171
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047279126   ⟸   XM_047423170
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279129   ⟸   XM_047423173
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047279130   ⟸   XM_047423174
- Peptide Label: isoform X17
Ensembl Acc Id: ENSP00000514396   ⟸   ENST00000699485
Ensembl Acc Id: ENSP00000514397   ⟸   ENST00000699486
RefSeq Acc Id: XP_054218621   ⟸   XM_054362646
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054218620   ⟸   XM_054362645
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054218617   ⟸   XM_054362642
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218616   ⟸   XM_054362641
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218615   ⟸   XM_054362640
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218619   ⟸   XM_054362644
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054218618   ⟸   XM_054362643
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218614   ⟸   XM_054362639
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218613   ⟸   XM_054362638
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218623   ⟸   XM_054362648
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054218622   ⟸   XM_054362647
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054218626   ⟸   XM_054362651
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054218628   ⟸   XM_054362653
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054218624   ⟸   XM_054362649
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054218625   ⟸   XM_054362650
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054218627   ⟸   XM_054362652
- Peptide Label: isoform X16
Ensembl Acc Id: ENSP00000599619   ⟸   ENST00000929560
Ensembl Acc Id: ENSP00000599617   ⟸   ENST00000929558
Ensembl Acc Id: ENSP00000599618   ⟸   ENST00000929559
Ensembl Acc Id: ENSP00000536839   ⟸   ENST00000866780
Ensembl Acc Id: ENSP00000599620   ⟸   ENST00000929561
Ensembl Acc Id: ENSP00000536840   ⟸   ENST00000866781
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9P202-F1-model_v2 AlphaFold Q9P202 1-907 view protein structure

Promoters
RGD ID:7215973
Promoter ID:EPDNEW_H13732
Type:multiple initiation site
Name:DFNB31_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13733  EPDNEW_H13734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,464,511 - 114,464,571EPDNEW
RGD ID:7215975
Promoter ID:EPDNEW_H13733
Type:initiation region
Name:DFNB31_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13732  EPDNEW_H13734  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,503,175 - 114,503,235EPDNEW
RGD ID:7215977
Promoter ID:EPDNEW_H13734
Type:initiation region
Name:DFNB31_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13732  EPDNEW_H13733  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389114,505,473 - 114,505,533EPDNEW
RGD ID:6807420
Promoter ID:HG_KWN:64650
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374057,   OTTHUMT00000053775,   UC004BIZ.2,   UC004BJA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 369116,306,371 - 116,307,662 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16361 AgrOrtholog
COSMIC WHRN COSMIC
Ensembl Genes ENSG00000095397 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265134 ENTREZGENE
  ENST00000265134.10 UniProtKB/Swiss-Prot
  ENST00000362057 ENTREZGENE
  ENST00000362057.4 UniProtKB/Swiss-Prot
  ENST00000374057.3 UniProtKB/Swiss-Prot
  ENST00000674036 ENTREZGENE
  ENST00000674048 ENTREZGENE
  ENST00000699486 ENTREZGENE
  ENST00000866780 ENTREZGENE
  ENST00000866781 ENTREZGENE
  ENST00000929558 ENTREZGENE
  ENST00000929560 ENTREZGENE
Gene3D-CATH 1.20.1160.20 UniProtKB/Swiss-Prot
  2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000095397 GTEx
HGNC ID HGNC:16361 ENTREZGENE
Human Proteome Map WHRN Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  USH2_Complex_Protein UniProtKB/Swiss-Prot
  Whirlin UniProtKB/Swiss-Prot
  Whirlin_HN-like_dom1 UniProtKB/Swiss-Prot
KEGG Report hsa:25861 UniProtKB/Swiss-Prot
NCBI Gene WHRN ENTREZGENE
OMIM 607928 OMIM
PANTHER PDZ DOMAIN CONTAINING WHIRLIN AND HARMONIN-RELATED UniProtKB/Swiss-Prot
  PTHR23116:SF37 UniProtKB/Swiss-Prot
Pfam PDZ UniProtKB/Swiss-Prot
PharmGKB PA27297 PharmGKB
PROSITE PDZ UniProtKB/Swiss-Prot
SMART PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot
UniProt A0A0C4DFT9 ENTREZGENE
  A0A669KBA5_HUMAN UniProtKB/TrEMBL
  A0A669KBJ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A8V8TNT0_HUMAN UniProtKB/TrEMBL
  A0A8V8TQ31 ENTREZGENE, UniProtKB/TrEMBL
  A5PKU1 ENTREZGENE
  A5PKZ9 ENTREZGENE
  B9EGE6 ENTREZGENE, UniProtKB/TrEMBL
  Q5TAU9 ENTREZGENE
  Q5TAV0 ENTREZGENE
  Q5TAV1 ENTREZGENE
  Q5TAV2 ENTREZGENE
  Q96MZ9 ENTREZGENE
  Q9H9F4 ENTREZGENE
  Q9P202 ENTREZGENE
  Q9UFZ3 ENTREZGENE
  WHRN_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A0C4DFT9 UniProtKB/Swiss-Prot
  A5PKU1 UniProtKB/Swiss-Prot
  A5PKZ9 UniProtKB/Swiss-Prot
  Q5TAU9 UniProtKB/Swiss-Prot
  Q5TAV0 UniProtKB/Swiss-Prot
  Q5TAV1 UniProtKB/Swiss-Prot
  Q5TAV2 UniProtKB/Swiss-Prot
  Q96MZ9 UniProtKB/Swiss-Prot
  Q9H9F4 UniProtKB/Swiss-Prot
  Q9UFZ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-24 WHRN  whirlin  DFNB31  deafness, autosomal recessive 31  Symbol and/or name change 5135510 APPROVED