PDZD7 (PDZ domain containing 7) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PDZD7 (PDZ domain containing 7) Homo sapiens
Analyze
Symbol: PDZD7
Name: PDZ domain containing 7
RGD ID: 1320465
HGNC Page HGNC:26257
Description: Predicted to enable identical protein binding activity. Predicted to be involved in auditory receptor cell stereocilium organization and sensory perception of sound. Predicted to act upstream of or within several processes, including auditory receptor cell development; detection of mechanical stimulus involved in sensory perception of sound; and establishment of protein localization. Located in cilium and nucleoplasm. Implicated in Usher syndrome type 2A; Usher syndrome type 2C; and autosomal recessive nonsyndromic deafness 57.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deafness, autosomal recessive 57; DFNB57; PDZ domain-containing protein 7; PDZK7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810101,007,679 - 101,031,129 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10101,007,679 - 101,032,295 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,767,436 - 102,790,886 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,767,079 - 102,780,869 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,767,078 - 102,780,869NCBI
Celera1096,514,823 - 96,528,615 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1096,396,919 - 96,420,430 (-)NCBIHuRef
CHM1_110103,051,644 - 103,075,147 (-)NCBICHM1_1
T2T-CHM13v2.010101,891,054 - 101,914,544 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cell projection  (IEA)
cilium  (IBA,IDA,IEA)
extracellular space  (HDA)
nucleoplasm  (IDA)
nucleus  (IDA,IEA)
plasma membrane  (IBA,IEA)
stereocilia ankle link  (IEA,ISS)
stereocilia ankle link complex  (IBA,IEA,ISS)
stereocilium  (IEA,ISS)
stereocilium tip  (IBA,IEA)
USH2 complex  (IEA,ISS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8125298   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16344560   PMID:19028668   PMID:20301515   PMID:20440071   PMID:21873635   PMID:22664934   PMID:23055499   PMID:24618850  
PMID:24962568   PMID:25406310   PMID:26053890   PMID:26416264   PMID:26849169   PMID:29048736   PMID:30021884   PMID:30726710   PMID:30745168   PMID:30786928   PMID:31129248   PMID:31454969  
PMID:31551363   PMID:32296183   PMID:32393512   PMID:35715776   PMID:37704626  


Genomics

Comparative Map Data
PDZD7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810101,007,679 - 101,031,129 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10101,007,679 - 101,032,295 (-)EnsemblGRCh38hg38GRCh38
GRCh3710102,767,436 - 102,790,886 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3610102,767,079 - 102,780,869 (-)NCBINCBI36Build 36hg18NCBI36
Build 3410102,767,078 - 102,780,869NCBI
Celera1096,514,823 - 96,528,615 (-)NCBICelera
Cytogenetic Map10q24.31NCBI
HuRef1096,396,919 - 96,420,430 (-)NCBIHuRef
CHM1_110103,051,644 - 103,075,147 (-)NCBICHM1_1
T2T-CHM13v2.010101,891,054 - 101,914,544 (-)NCBIT2T-CHM13v2.0
Pdzd7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391945,015,346 - 45,048,273 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1945,015,345 - 45,034,156 (-)EnsemblGRCm39 Ensembl
GRCm381945,026,907 - 45,058,633 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1945,026,906 - 45,045,717 (-)EnsemblGRCm38mm10GRCm38
MGSCv371945,102,105 - 45,120,133 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361945,101,396 - 45,104,505 (-)NCBIMGSCv36mm8
Celera1945,798,091 - 45,816,495 (-)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1938.23NCBI
Pdzd7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81253,837,454 - 253,856,919 (-)NCBIGRCr8
mRatBN7.21243,888,295 - 243,907,778 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1243,888,281 - 243,906,839 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1252,035,977 - 252,054,484 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01258,733,851 - 258,752,361 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01251,386,005 - 251,404,547 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01264,776,393 - 264,796,206 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1264,776,398 - 264,794,938 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01272,218,787 - 272,238,206 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41250,093,286 - 250,111,651 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11250,354,390 - 250,355,498 (-)NCBI
Celera1239,699,429 - 239,717,953 (-)NCBICelera
Cytogenetic Map1q54NCBI
Pdzd7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554859,166,745 - 9,182,427 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554859,166,721 - 9,183,129 (+)NCBIChiLan1.0ChiLan1.0
PDZD7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28112,892,689 - 112,916,290 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110112,898,067 - 112,921,923 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01097,608,969 - 97,632,508 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110101,085,130 - 101,107,949 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10101,085,370 - 101,107,034 (-)Ensemblpanpan1.1panPan2
PDZD7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12813,693,032 - 13,711,654 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2813,693,023 - 13,711,784 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2813,862,474 - 13,881,114 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02814,161,075 - 14,179,725 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2814,161,062 - 14,179,677 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12813,706,822 - 13,725,459 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02813,748,113 - 13,766,748 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02813,880,087 - 13,898,731 (-)NCBIUU_Cfam_GSD_1.0
Pdzd7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721333,056,355 - 33,075,713 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366004,661,332 - 4,678,107 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366004,660,211 - 4,678,911 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDZD7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.114112,088,332 - 112,111,348 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214121,676,356 - 121,680,619 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDZD7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1994,026,036 - 94,049,043 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604855,077,754 - 55,100,763 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pdzd7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624831608,970 - 624,617 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624831608,270 - 624,679 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PDZD7
790 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001195263.2(PDZD7):c.2194_2203del (p.Cys732fs) deletion Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV000023975] Chr10:101010686..101010695 [GRCh38]
Chr10:102770443..102770452 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656350] Chr10:101021811 [GRCh38]
Chr10:102781568 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.244G>A (p.Asp82Asn) single nucleotide variant not provided [RCV000520171] Chr10:101024051 [GRCh38]
Chr10:102783808 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.166dup (p.Arg56fs) duplication Hearing loss, autosomal recessive 57 [RCV000656379]|Usher syndrome type 2A [RCV000023974]|not provided [RCV001008540] Chr10:101030053..101030054 [GRCh38]
Chr10:102789810..102789811 [GRCh37]
Chr10:10q24.31
pathogenic|risk factor
NM_001195263.2(PDZD7):c.1011C>T (p.Tyr337=) single nucleotide variant Usher syndrome type 2C [RCV002490540]|not provided [RCV001518729]|not specified [RCV000039450] Chr10:101019135 [GRCh38]
Chr10:102778892 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1447G>A (p.Asp483Asn) single nucleotide variant not provided [RCV000970867]|not specified [RCV000039451] Chr10:101018174 [GRCh38]
Chr10:102777931 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) single nucleotide variant not provided [RCV000879616]|not specified [RCV000039452] Chr10:101030064 [GRCh38]
Chr10:102789821 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.159G>C (p.Gly53=) single nucleotide variant not provided [RCV000712517]|not specified [RCV000039453] Chr10:101030061 [GRCh38]
Chr10:102789818 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.306C>T (p.Arg102=) single nucleotide variant not provided [RCV002054762]|not specified [RCV000039454] Chr10:101023989 [GRCh38]
Chr10:102783746 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.367+7A>G single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001787834]|Usher syndrome type 2C [RCV001787833]|not provided [RCV000842815]|not specified [RCV000039455] Chr10:101023921 [GRCh38]
Chr10:102783678 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.936C>T (p.Asn312=) single nucleotide variant not provided [RCV000992517]|not specified [RCV000039456] Chr10:101019210 [GRCh38]
Chr10:102778967 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) single nucleotide variant not provided [RCV000969791]|not specified [RCV000037095] Chr10:101015772 [GRCh38]
Chr10:102775529 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2049G>A (p.Pro683=) single nucleotide variant not provided [RCV000712518]|not specified [RCV000037096] Chr10:101010840 [GRCh38]
Chr10:102770597 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) deletion Hearing loss, autosomal recessive 57 [RCV000656355]|PDZD7-related condition [RCV003398601]|Rare genetic deafness [RCV000037097]|Usher syndrome type 2C [RCV002490502]|Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001849292]|not provided [RCV000599609] Chr10:101010782 [GRCh38]
Chr10:102770539 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.2132A>G (p.His711Arg) single nucleotide variant not provided [RCV000712519]|not specified [RCV000037098] Chr10:101010757 [GRCh38]
Chr10:102770514 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) single nucleotide variant not provided [RCV000954274]|not specified [RCV000037099] Chr10:101010745 [GRCh38]
Chr10:102770502 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2319T>C (p.Arg773=) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001787826]|Usher syndrome type 2C [RCV001787825]|not provided [RCV000835644]|not specified [RCV000037100] Chr10:101010570 [GRCh38]
Chr10:102770327 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) deletion not provided [RCV000971055]|not specified [RCV000037101] Chr10:101010553..101010570 [GRCh38]
Chr10:102770310..102770327 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2335CGCAGC[4] (p.773RS[7]) microsatellite Hearing loss, autosomal recessive 57 [RCV001787828]|Usher syndrome type 2C [RCV001787827]|not provided [RCV000835645]|not specified [RCV000037102] Chr10:101010536..101010537 [GRCh38]
Chr10:102770293..102770294 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2368A>G (p.Lys790Glu) single nucleotide variant not provided [RCV000712520]|not specified [RCV000037103] Chr10:101010521 [GRCh38]
Chr10:102770278 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2411C>T (p.Ala804Val) single nucleotide variant not provided [RCV001463957]|not specified [RCV000037104] Chr10:101010478 [GRCh38]
Chr10:102770235 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.2564A>C (p.Asn855Thr) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001787830]|Usher syndrome type 2C [RCV001787829]|not provided [RCV000842692]|not specified [RCV000037105] Chr10:101010325 [GRCh38]
Chr10:102770082 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2672AGA[1] (p.Lys892del) microsatellite Hearing loss, autosomal recessive 57 [RCV001786330]|not provided [RCV002513457]|not specified [RCV000037107] Chr10:101009291..101009293 [GRCh38]
Chr10:102769048..102769050 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3
pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_001195263.2(PDZD7):c.1752T>C (p.Tyr584=) single nucleotide variant not provided [RCV001512703]|not specified [RCV000174295] Chr10:101012256 [GRCh38]
Chr10:102772013 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.3092G>A (p.Arg1031His) single nucleotide variant not provided [RCV000842000]|not specified [RCV000175157] Chr10:101008477 [GRCh38]
Chr10:102768234 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.1(PDZD7):c.2352_2353insCGCAGC (p.Ser784_Ser785insArgSer) insertion not specified [RCV000174868] Chr10:101010536..101010537 [GRCh38]
Chr10:102770293..102770294 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.516C>G (p.Ile172Met) single nucleotide variant not provided [RCV001348090] Chr10:101023462 [GRCh38]
Chr10:102783219 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) single nucleotide variant not provided [RCV000880900]|not specified [RCV000178837] Chr10:101022356 [GRCh38]
Chr10:102782113 [GRCh37]
Chr10:10q24.31
benign|likely benign|conflicting interpretations of pathogenicity
NM_001195263.2(PDZD7):c.1342AAG[1] (p.Lys449del) microsatellite not provided [RCV001348676] Chr10:101018274..101018276 [GRCh38]
Chr10:102778031..102778033 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2360G>A (p.Gly787Asp) single nucleotide variant not provided [RCV001348483] Chr10:101010529 [GRCh38]
Chr10:102770286 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) single nucleotide variant not provided [RCV000174050] Chr10:101015747 [GRCh38]
Chr10:102775504 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.2438A>C (p.His813Pro) single nucleotide variant not provided [RCV000174867] Chr10:101010451 [GRCh38]
Chr10:102770208 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2719-9C>A single nucleotide variant not provided [RCV000175156] Chr10:101008859 [GRCh38]
Chr10:102768616 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
NM_001195263.2(PDZD7):c.2331_2348del (p.773_774RS[3]) deletion not provided [RCV001610458]|not specified [RCV000151644] Chr10:101010541..101010558 [GRCh38]
Chr10:102770298..102770315 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2357G>A (p.Arg786Gln) single nucleotide variant not provided [RCV001432330]|not specified [RCV000155272] Chr10:101010532 [GRCh38]
Chr10:102770289 [GRCh37]
Chr10:10q24.31
likely benign|conflicting interpretations of pathogenicity
NM_001195263.2(PDZD7):c.1008C>T (p.Pro336=) single nucleotide variant not provided [RCV000959918]|not specified [RCV000155273] Chr10:101019138 [GRCh38]
Chr10:102778895 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2538G>C (p.Gly846=) single nucleotide variant not provided [RCV001513125]|not specified [RCV000151643] Chr10:101010351 [GRCh38]
Chr10:102770108 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2157C>T (p.Asp719=) single nucleotide variant not provided [RCV000888755]|not specified [RCV000151645] Chr10:101010732 [GRCh38]
Chr10:102770489 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) single nucleotide variant not provided [RCV000891881]|not specified [RCV000151646] Chr10:101019175 [GRCh38]
Chr10:102778932 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) deletion not provided [RCV000723969]|not specified [RCV000155451] Chr10:101018271..101018273 [GRCh38]
Chr10:102778028..102778030 [GRCh37]
Chr10:10q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) single nucleotide variant Usher syndrome type 2C [RCV000763639]|not provided [RCV000179818] Chr10:101020668 [GRCh38]
Chr10:102780425 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.928+20del deletion Hearing loss, autosomal recessive 57 [RCV001788105]|Usher syndrome type 2C [RCV001788104]|not provided [RCV000842816]|not specified [RCV000251422] Chr10:101020598 [GRCh38]
Chr10:102780355 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.782C>T (p.Ala261Val) single nucleotide variant not provided [RCV000520320] Chr10:101021883 [GRCh38]
Chr10:102781640 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr) single nucleotide variant Hearing loss, autosomal recessive [RCV002471111]|not provided [RCV001493941] Chr10:101018879 [GRCh38]
Chr10:102778636 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) single nucleotide variant not provided [RCV000724999] Chr10:101010639 [GRCh38]
Chr10:102770396 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp) single nucleotide variant Inborn genetic diseases [RCV003278731]|not provided [RCV000299346] Chr10:101019067 [GRCh38]
Chr10:102778824 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+207_1522+215del microsatellite not provided [RCV001574514] Chr10:101017884..101017892 [GRCh38]
Chr10:102777641..102777649 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1031C>T (p.Ser344Leu) single nucleotide variant not provided [RCV001368153] Chr10:101019115 [GRCh38]
Chr10:102778872 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.785A>G (p.Asn262Ser) single nucleotide variant not provided [RCV003315068] Chr10:101021880 [GRCh38]
Chr10:102781637 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1982G>A (p.Arg661His) single nucleotide variant not provided [RCV000522962] Chr10:101011713 [GRCh38]
Chr10:102771470 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656356] Chr10:101030023 [GRCh38]
Chr10:102789780 [GRCh37]
Chr10:10q24.31
pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656353]|PDZD7-related condition [RCV003403513]|not provided [RCV002536314] Chr10:101022246 [GRCh38]
Chr10:102782003 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656351] Chr10:101018121 [GRCh38]
Chr10:102777878 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.1522+186_1522+215del deletion not provided [RCV001572068] Chr10:101017884..101017913 [GRCh38]
Chr10:102777641..102777670 [GRCh37]
Chr10:10q24.31
likely benign
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1
pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001195263.2(PDZD7):c.2348G>A (p.Arg783His) single nucleotide variant not provided [RCV000484429] Chr10:101010541 [GRCh38]
Chr10:102770298 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.2481T>G (p.Asp827Glu) single nucleotide variant not provided [RCV000493093] Chr10:101010408 [GRCh38]
Chr10:102770165 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656349]|not provided [RCV001051892] Chr10:101023988 [GRCh38]
Chr10:102783745 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_001195263.2(PDZD7):c.1207del (p.His403fs) deletion Hearing loss, autosomal recessive 57 [RCV000656357] Chr10:101018939 [GRCh38]
Chr10:102778696 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.685G>A (p.Gly229Ser) single nucleotide variant not provided [RCV001755990]|not specified [RCV000614600] Chr10:101022243 [GRCh38]
Chr10:102782000 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2943T>C (p.Asp981=) single nucleotide variant not provided [RCV000888077]|not specified [RCV000605246] Chr10:101008626 [GRCh38]
Chr10:102768383 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.224A>T (p.Glu75Val) single nucleotide variant not provided [RCV000512782] Chr10:101029996 [GRCh38]
Chr10:102789753 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1576C>T (p.Gln526Ter) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656352] Chr10:101015809 [GRCh38]
Chr10:102775566 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1648C>T (p.Gln550Ter) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV000656354]|not provided [RCV003424263] Chr10:101015737 [GRCh38]
Chr10:102775494 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.293G>T (p.Gly98Val) single nucleotide variant not provided [RCV000513520] Chr10:101024002 [GRCh38]
Chr10:102783759 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.559C>T (p.Arg187Trp) single nucleotide variant not provided [RCV000658577] Chr10:101022369 [GRCh38]
Chr10:102782126 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1012del (p.Ser338fs) deletion Usher syndrome type 2A [RCV000678984] Chr10:101019134 [GRCh38]
Chr10:102778891 [GRCh37]
Chr10:10q24.31
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_001195263.2(PDZD7):c.1750-110C>G single nucleotide variant not provided [RCV001566856] Chr10:101012368 [GRCh38]
Chr10:102772125 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+260CCTT[3] microsatellite not provided [RCV001582210] Chr10:101017824..101017827 [GRCh38]
Chr10:102777581..102777584 [GRCh37]
Chr10:10q24.31
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001195263.2(PDZD7):c.1522+704del deletion not provided [RCV001541405] Chr10:101017395 [GRCh38]
Chr10:102777152 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) single nucleotide variant Hearing impairment [RCV001375109]|not provided [RCV001053461] Chr10:101021863 [GRCh38]
Chr10:102781620 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+228dup duplication not provided [RCV001680029] Chr10:101017870..101017871 [GRCh38]
Chr10:102777627..102777628 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1758C>A (p.His586Gln) single nucleotide variant not provided [RCV001055259] Chr10:101012250 [GRCh38]
Chr10:102772007 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1088G>A (p.Trp363Ter) single nucleotide variant Ear malformation [RCV001836910] Chr10:101019058 [GRCh38]
Chr10:102778815 [GRCh37]
Chr10:10q24.31
likely pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.592C>T (p.Pro198Ser) single nucleotide variant not provided [RCV001551822] Chr10:101022336 [GRCh38]
Chr10:102782093 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1933+46G>C single nucleotide variant not provided [RCV001581678] Chr10:101011879 [GRCh38]
Chr10:102771636 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu) single nucleotide variant not provided [RCV000992516] Chr10:101011755 [GRCh38]
Chr10:102771512 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1749+43del deletion Hearing loss, autosomal recessive 57 [RCV001788674]|Usher syndrome type 2C [RCV001788673]|not provided [RCV001648549] Chr10:101015593 [GRCh38]
Chr10:102775350 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.370C>T (p.Arg124Trp) single nucleotide variant Inborn genetic diseases [RCV002540043]|not provided [RCV000883746]|not specified [RCV001195203] Chr10:101023608 [GRCh38]
Chr10:102783365 [GRCh37]
Chr10:10q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.206T>C (p.Leu69Pro) single nucleotide variant not provided [RCV001044256] Chr10:101030014 [GRCh38]
Chr10:102789771 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.539C>T (p.Thr180Met) single nucleotide variant not provided [RCV001044257] Chr10:101023439 [GRCh38]
Chr10:102783196 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1588C>T (p.Arg530Trp) single nucleotide variant not provided [RCV001044385] Chr10:101015797 [GRCh38]
Chr10:102775554 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.543-3C>T single nucleotide variant not provided [RCV001051282] Chr10:101022388 [GRCh38]
Chr10:102782145 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.382T>C (p.Cys128Arg) single nucleotide variant Inborn genetic diseases [RCV002555828]|not provided [RCV001063743] Chr10:101023596 [GRCh38]
Chr10:102783353 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2335C>T (p.Arg779Cys) single nucleotide variant not provided [RCV001064044] Chr10:101010554 [GRCh38]
Chr10:102770311 [GRCh37]
Chr10:10q24.31
uncertain significance
NC_000010.11:g.101020598del deletion not provided [RCV000842816] Chr10:10q24.31 benign
NM_001195263.2(PDZD7):c.2568C>A (p.Pro856=) single nucleotide variant not provided [RCV000920145] Chr10:101010321 [GRCh38]
Chr10:102770078 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1191C>T (p.Ile397=) single nucleotide variant not provided [RCV000940828] Chr10:101018955 [GRCh38]
Chr10:102778712 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.39C>A (p.Gly13=) single nucleotide variant not provided [RCV000909740] Chr10:101030181 [GRCh38]
Chr10:102789938 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.928+63C>A single nucleotide variant not provided [RCV000842817] Chr10:101020555 [GRCh38]
Chr10:102780312 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1522+88G>C single nucleotide variant not provided [RCV000842818] Chr10:101018011 [GRCh38]
Chr10:102777768 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1522+395A>G single nucleotide variant not provided [RCV000842819] Chr10:101017704 [GRCh38]
Chr10:102777461 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) single nucleotide variant not provided [RCV001036565]|not specified [RCV000825811] Chr10:101018210 [GRCh38]
Chr10:102777967 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.2230C>A (p.Arg744=) single nucleotide variant not provided [RCV001512293]|not specified [RCV000825084] Chr10:101010659 [GRCh38]
Chr10:102770416 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) single nucleotide variant not provided [RCV000965150]|not specified [RCV000825812] Chr10:101011953 [GRCh38]
Chr10:102771710 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.1934-55C>T single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001788370]|Usher syndrome type 2C [RCV001788369]|not provided [RCV000836773] Chr10:101011816 [GRCh38]
Chr10:102771573 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1574-148C>T single nucleotide variant not provided [RCV000826733] Chr10:101015959 [GRCh38]
Chr10:102775716 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.937G>A (p.Gly313Arg) single nucleotide variant not provided [RCV000994496] Chr10:101019209 [GRCh38]
Chr10:102778966 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1750-241C>T single nucleotide variant not provided [RCV000831690] Chr10:101012499 [GRCh38]
Chr10:102772256 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.928+110C>T single nucleotide variant not provided [RCV000830741] Chr10:101020508 [GRCh38]
Chr10:102780265 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1750-196T>C single nucleotide variant not provided [RCV000831719] Chr10:101012454 [GRCh38]
Chr10:102772211 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2231G>A (p.Arg744Gln) single nucleotide variant not provided [RCV001509787]|not specified [RCV000825083] Chr10:101010658 [GRCh38]
Chr10:102770415 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV002283515]|not provided [RCV001858394]|not specified [RCV000825430] Chr10:101023488 [GRCh38]
Chr10:102783245 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.562C>A (p.Arg188Ser) single nucleotide variant Usher syndrome type 2C [RCV002478938]|not provided [RCV001044686]|not specified [RCV000826016] Chr10:101022366 [GRCh38]
Chr10:102782123 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1171A>G (p.Ile391Val) single nucleotide variant not provided [RCV001053473]|not specified [RCV000826017] Chr10:101018975 [GRCh38]
Chr10:102778732 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.543-167T>G single nucleotide variant not provided [RCV000826732] Chr10:101022552 [GRCh38]
Chr10:102782309 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2219C>T (p.Pro740Leu) single nucleotide variant not provided [RCV001060581] Chr10:101010670 [GRCh38]
Chr10:102770427 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1525G>C (p.Gly509Arg) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001328701]|not provided [RCV002536076]|not specified [RCV000826018] Chr10:101016425 [GRCh38]
Chr10:102776182 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2011C>A (p.Arg671Ser) single nucleotide variant not provided [RCV001204545]|not specified [RCV000825431] Chr10:101010878 [GRCh38]
Chr10:102770635 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1841G>C (p.Arg614Thr) single nucleotide variant not provided [RCV001558284]|not specified [RCV000825432] Chr10:101012167 [GRCh38]
Chr10:102771924 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[1] (p.773RS[4]) microsatellite Hearing loss, autosomal recessive 57 [RCV002273830]|not provided [RCV001062260]|not specified [RCV000825433] Chr10:101010547..101010558 [GRCh38]
Chr10:102770304..102770315 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.-165-311A>G single nucleotide variant not provided [RCV000844018] Chr10:101030695 [GRCh38]
Chr10:102790452 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.868-203T>G single nucleotide variant not provided [RCV000844020] Chr10:101020881 [GRCh38]
Chr10:102780638 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1523-214G>C single nucleotide variant not provided [RCV000844025] Chr10:101016641 [GRCh38]
Chr10:102776398 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1750-268T>G single nucleotide variant not provided [RCV000844035] Chr10:101012526 [GRCh38]
Chr10:102772283 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2006-313T>G single nucleotide variant not provided [RCV000844038] Chr10:101011196 [GRCh38]
Chr10:102770953 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1629G>A (p.Gln543=) single nucleotide variant Usher syndrome type 2C [RCV002501156]|not provided [RCV001417965]|not specified [RCV000825813] Chr10:101015756 [GRCh38]
Chr10:102775513 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.419G>A (p.Ser140Asn) single nucleotide variant not provided [RCV001759630]|not specified [RCV000826019] Chr10:101023559 [GRCh38]
Chr10:102783316 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2006-179ATAA[4] microsatellite not provided [RCV000830762] Chr10:101011050..101011051 [GRCh38]
Chr10:102770807..102770808 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2686G>A (p.Gly896Arg) single nucleotide variant not provided [RCV001055642] Chr10:101009282 [GRCh38]
Chr10:102769039 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3078C>T (p.Pro1026=) single nucleotide variant not provided [RCV001522364]|not specified [RCV001195204] Chr10:101008491 [GRCh38]
Chr10:102768248 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2185del (p.Arg729fs) deletion not provided [RCV001009063] Chr10:101010704 [GRCh38]
Chr10:102770461 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.119C>T (p.Thr40Met) single nucleotide variant not provided [RCV001056784] Chr10:101030101 [GRCh38]
Chr10:102789858 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2006-2A>G single nucleotide variant not provided [RCV001172040] Chr10:101010885 [GRCh38]
Chr10:102770642 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.313T>G (p.Ser105Ala) single nucleotide variant not provided [RCV001213607] Chr10:101023982 [GRCh38]
Chr10:102783739 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2850del (p.Ser953fs) deletion Hearing loss, autosomal recessive 57 [RCV001249835]|not provided [RCV001228036] Chr10:101008719 [GRCh38]
Chr10:102768476 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.146G>A (p.Arg49Gln) single nucleotide variant not provided [RCV001213848] Chr10:101030074 [GRCh38]
Chr10:102789831 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2006-178_2006-177insAATG insertion not provided [RCV001564195] Chr10:101011060..101011061 [GRCh38]
Chr10:102770817..102770818 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1673G>A (p.Arg558Gln) single nucleotide variant not provided [RCV001212711] Chr10:101015712 [GRCh38]
Chr10:102775469 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1538C>T (p.Pro513Leu) single nucleotide variant not provided [RCV001227947]|not specified [RCV001195258] Chr10:101016412 [GRCh38]
Chr10:102776169 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2330G>A (p.Arg777His) single nucleotide variant not provided [RCV001233229] Chr10:101010559 [GRCh38]
Chr10:102770316 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1570C>T (p.Arg524Cys) single nucleotide variant not provided [RCV001233345] Chr10:101016380 [GRCh38]
Chr10:102776137 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1751A>G (p.Tyr584Cys) single nucleotide variant not provided [RCV001223669] Chr10:101012257 [GRCh38]
Chr10:102772014 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.728A>G (p.His243Arg) single nucleotide variant not provided [RCV001233788] Chr10:101021937 [GRCh38]
Chr10:102781694 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.548A>T (p.Asp183Val) single nucleotide variant not provided [RCV001225340] Chr10:101022380 [GRCh38]
Chr10:102782137 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.652G>A (p.Asp218Asn) single nucleotide variant not provided [RCV001225364] Chr10:101022276 [GRCh38]
Chr10:102782033 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2325_2330dup (p.773RS[7]) duplication not provided [RCV001203771] Chr10:101010558..101010559 [GRCh38]
Chr10:102770315..102770316 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.622C>T (p.Arg208Trp) single nucleotide variant not provided [RCV001240718] Chr10:101022306 [GRCh38]
Chr10:102782063 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.406G>A (p.Val136Met) single nucleotide variant not provided [RCV001221850] Chr10:101023572 [GRCh38]
Chr10:102783329 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp) single nucleotide variant Hearing impairment [RCV001375141]|not provided [RCV001232501] Chr10:101011735 [GRCh38]
Chr10:102771492 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2526T>A (p.Ser842Arg) single nucleotide variant not provided [RCV001221806] Chr10:101010363 [GRCh38]
Chr10:102770120 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1445G>A (p.Arg482Gln) single nucleotide variant not provided [RCV001242315] Chr10:101018176 [GRCh38]
Chr10:102777933 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2319_2342del (p.773RS[2]) deletion not provided [RCV001204208] Chr10:101010547..101010570 [GRCh38]
Chr10:102770304..102770327 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1574-45_1574-3del deletion not provided [RCV001212276] Chr10:101015814..101015856 [GRCh38]
Chr10:102775571..102775613 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1529G>A (p.Gly510Asp) single nucleotide variant not provided [RCV001228670] Chr10:101016421 [GRCh38]
Chr10:102776178 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2180C>G (p.Pro727Arg) single nucleotide variant not provided [RCV001230726] Chr10:101010709 [GRCh38]
Chr10:102770466 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1510G>A (p.Asp504Asn) single nucleotide variant Inborn genetic diseases [RCV003249610] Chr10:101018111 [GRCh38]
Chr10:102777868 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+452T>G single nucleotide variant not provided [RCV003312174] Chr10:101017647 [GRCh38]
Chr10:102777404 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1672C>T (p.Arg558Trp) single nucleotide variant not provided [RCV001700718]|not specified [RCV001195255] Chr10:101015713 [GRCh38]
Chr10:102775470 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1832A>G (p.Gln611Arg) single nucleotide variant not provided [RCV001200074] Chr10:101012176 [GRCh38]
Chr10:102771933 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1093C>T (p.Arg365Trp) single nucleotide variant not provided [RCV001246761] Chr10:101019053 [GRCh38]
Chr10:102778810 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1013G>T (p.Ser338Ile) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001196747] Chr10:101019133 [GRCh38]
Chr10:102778890 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) deletion Hearing loss, autosomal recessive 57 [RCV001171317]|Inborn genetic diseases [RCV002559641]|not provided [RCV001664724] Chr10:101010800 [GRCh38]
Chr10:102770557 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.1958C>A (p.Ala653Asp) single nucleotide variant not provided [RCV003106482] Chr10:101011737 [GRCh38]
Chr10:102771494 [GRCh37]
Chr10:10q24.31
uncertain significance
NC_000010.10:g.(?_102783173)_(102783845_?)del deletion not provided [RCV003105650] Chr10:102783173..102783845 [GRCh37]
Chr10:10q24.31
pathogenic
NC_000010.10:g.(?_102747968)_(103535657_?)dup duplication not provided [RCV003105651] Chr10:102747968..103535657 [GRCh37]
Chr10:10q24.31-24.32
uncertain significance
NM_001195263.2(PDZD7):c.1522+207_1522+211del microsatellite not provided [RCV001569387] Chr10:101017888..101017892 [GRCh38]
Chr10:102777645..102777649 [GRCh37]
Chr10:10q24.31
likely benign
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1
uncertain significance
NM_001195263.2(PDZD7):c.1522+186_1522+211del deletion not provided [RCV001570909] Chr10:101017888..101017913 [GRCh38]
Chr10:102777645..102777670 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+186_1522+227del deletion not provided [RCV001568694] Chr10:101017872..101017913 [GRCh38]
Chr10:102777629..102777670 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.227-130A>G single nucleotide variant not provided [RCV001651940] Chr10:101024198 [GRCh38]
Chr10:102783955 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.367+51del deletion not provided [RCV001558436] Chr10:101023877 [GRCh38]
Chr10:102783634 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.543-212del deletion not provided [RCV001620486] Chr10:101022597 [GRCh38]
Chr10:102782354 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1522+207del deletion not provided [RCV001670541] Chr10:101017892 [GRCh38]
Chr10:102777649 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1749+144CA[11] microsatellite not provided [RCV001656781] Chr10:101015465..101015470 [GRCh38]
Chr10:102775222..102775227 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1065G>T (p.Glu355Asp) single nucleotide variant not provided [RCV001236172] Chr10:101019081 [GRCh38]
Chr10:102778838 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2331_2336del (p.773RS[5]) deletion not provided [RCV001239385] Chr10:101010553..101010558 [GRCh38]
Chr10:102770310..102770315 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3003_3022del (p.Thr1002fs) deletion not provided [RCV001243094] Chr10:101008547..101008566 [GRCh38]
Chr10:102768304..102768323 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV001239713] Chr10:101023949 [GRCh38]
Chr10:102783706 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.583G>C (p.Gly195Arg) single nucleotide variant not provided [RCV001053792] Chr10:101022345 [GRCh38]
Chr10:102782102 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2372C>T (p.Ser791Phe) single nucleotide variant not provided [RCV001206185] Chr10:101010517 [GRCh38]
Chr10:102770274 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2299C>T (p.Arg767Trp) single nucleotide variant not provided [RCV001241403] Chr10:101010590 [GRCh38]
Chr10:102770347 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.1996C>T (p.Pro666Ser) single nucleotide variant Inborn genetic diseases [RCV002563912]|not provided [RCV001238271] Chr10:101011699 [GRCh38]
Chr10:102771456 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.773T>A (p.Val258Asp) single nucleotide variant not provided [RCV001244000] Chr10:101021892 [GRCh38]
Chr10:102781649 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.168C>G (p.Arg56=) single nucleotide variant not provided [RCV000912015] Chr10:101030052 [GRCh38]
Chr10:102789809 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2903G>A (p.Gly968Asp) single nucleotide variant not provided [RCV001665136] Chr10:101008666 [GRCh38]
Chr10:102768423 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2617+319T>C single nucleotide variant not provided [RCV001621755] Chr10:101009953 [GRCh38]
Chr10:102769710 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1934-24T>C single nucleotide variant not provided [RCV001665429] Chr10:101011785 [GRCh38]
Chr10:102771542 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV002470342] Chr10:101021859 [GRCh38]
Chr10:102781616 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+301dup duplication not provided [RCV001618067] Chr10:101017786..101017787 [GRCh38]
Chr10:102777543..102777544 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1522+186_1522+223del deletion not provided [RCV001593979] Chr10:101017876..101017913 [GRCh38]
Chr10:102777633..102777670 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.-86A>G single nucleotide variant not provided [RCV001638947] Chr10:101030305 [GRCh38]
Chr10:102790062 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1032G>T (p.Ser344=) single nucleotide variant not provided [RCV001663297] Chr10:101019114 [GRCh38]
Chr10:102778871 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+224dup duplication not provided [RCV001568169] Chr10:101017874..101017875 [GRCh38]
Chr10:102777631..102777632 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+260_1522+265del deletion not provided [RCV001656993] Chr10:101017834..101017839 [GRCh38]
Chr10:102777591..102777596 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1522+207_1522+219del microsatellite not provided [RCV001671161] Chr10:101017880..101017892 [GRCh38]
Chr10:102777637..102777649 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2617+25G>A single nucleotide variant not provided [RCV001599117] Chr10:101010247 [GRCh38]
Chr10:102770004 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2716C>T (p.Gln906Ter) single nucleotide variant not provided [RCV001066121] Chr10:101009252 [GRCh38]
Chr10:102769009 [GRCh37]
Chr10:10q24.31
pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.278C>T (p.Pro93Leu) single nucleotide variant Inborn genetic diseases [RCV002555853]|not provided [RCV001066594] Chr10:101024017 [GRCh38]
Chr10:102783774 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1337del (p.Gln446fs) deletion not provided [RCV001093425] Chr10:101018284 [GRCh38]
Chr10:102778041 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2335CGCAGC[5] (p.773RS[8]) microsatellite not provided [RCV001054820] Chr10:101010536..101010537 [GRCh38]
Chr10:102770293..102770294 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2777G>A (p.Arg926His) single nucleotide variant not provided [RCV001057893] Chr10:101008792 [GRCh38]
Chr10:102768549 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1432G>A (p.Gly478Arg) single nucleotide variant not provided [RCV001063042] Chr10:101018189 [GRCh38]
Chr10:102777946 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2786A>G (p.Asp929Gly) single nucleotide variant not provided [RCV001063907] Chr10:101008783 [GRCh38]
Chr10:102768540 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+186_1522+219del deletion not provided [RCV001567470] Chr10:101017880..101017913 [GRCh38]
Chr10:102777637..102777670 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+187C>A single nucleotide variant not provided [RCV001615013] Chr10:101017912 [GRCh38]
Chr10:102777669 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2179C>T (p.Pro727Ser) single nucleotide variant not provided [RCV001066768] Chr10:101010710 [GRCh38]
Chr10:102770467 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.845C>T (p.Thr282Met) single nucleotide variant not provided [RCV001067389] Chr10:101021820 [GRCh38]
Chr10:102781577 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001089564]|not provided [RCV001862658] Chr10:101022248 [GRCh38]
Chr10:102782005 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2005+244A>G single nucleotide variant not provided [RCV001690329] Chr10:101011446 [GRCh38]
Chr10:102771203 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2336G>A (p.Arg779His) single nucleotide variant not provided [RCV001064889] Chr10:101010553 [GRCh38]
Chr10:102770310 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1749+144CA[12] microsatellite not provided [RCV001536427] Chr10:101015465..101015468 [GRCh38]
Chr10:102775222..102775225 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2618-290A>C single nucleotide variant not provided [RCV001583654] Chr10:101009640 [GRCh38]
Chr10:102769397 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1859C>T (p.Thr620Ile) single nucleotide variant not provided [RCV001065800] Chr10:101011999 [GRCh38]
Chr10:102771756 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.542+48C>G single nucleotide variant not provided [RCV001693115] Chr10:101023388 [GRCh38]
Chr10:102783145 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2341C>T (p.Arg781Cys) single nucleotide variant not provided [RCV001066259] Chr10:101010548 [GRCh38]
Chr10:102770305 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.*44G>A single nucleotide variant not provided [RCV001665458] Chr10:101008423 [GRCh38]
Chr10:102768180 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.929-281G>A single nucleotide variant not provided [RCV001584027] Chr10:101019498 [GRCh38]
Chr10:102779255 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1153A>G (p.Ser385Gly) single nucleotide variant not provided [RCV001231451] Chr10:101018993 [GRCh38]
Chr10:102778750 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.292G>A (p.Gly98Ser) single nucleotide variant not provided [RCV001201439] Chr10:101024003 [GRCh38]
Chr10:102783760 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2111C>T (p.Ala704Val) single nucleotide variant not provided [RCV001235777] Chr10:101010778 [GRCh38]
Chr10:102770535 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.319C>T (p.His107Tyr) single nucleotide variant not provided [RCV001067376] Chr10:101023976 [GRCh38]
Chr10:102783733 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.448G>A (p.Val150Ile) single nucleotide variant not provided [RCV001067380] Chr10:101023530 [GRCh38]
Chr10:102783287 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1325-3C>T single nucleotide variant not provided [RCV001039860] Chr10:101018299 [GRCh38]
Chr10:102778056 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.371G>A (p.Arg124Gln) single nucleotide variant not provided [RCV001048874] Chr10:101023607 [GRCh38]
Chr10:102783364 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1696C>T (p.Gln566Ter) single nucleotide variant not provided [RCV001049369] Chr10:101015689 [GRCh38]
Chr10:102775446 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001089563] Chr10:101024008 [GRCh38]
Chr10:102783765 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1387C>T (p.Arg463Cys) single nucleotide variant not provided [RCV001212596] Chr10:101018234 [GRCh38]
Chr10:102777991 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2258C>G (p.Thr753Arg) single nucleotide variant not provided [RCV001213371] Chr10:101010631 [GRCh38]
Chr10:102770388 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.134G>A (p.Arg45Lys) single nucleotide variant not provided [RCV001233699] Chr10:101030086 [GRCh38]
Chr10:102789843 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.763G>A (p.Gly255Arg) single nucleotide variant not provided [RCV001233873] Chr10:101021902 [GRCh38]
Chr10:102781659 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1530C>T (p.Gly510=) single nucleotide variant not provided [RCV001212856] Chr10:101016420 [GRCh38]
Chr10:102776177 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2851G>A (p.Gly951Arg) single nucleotide variant not provided [RCV001208675] Chr10:101008718 [GRCh38]
Chr10:102768475 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2408C>T (p.Pro803Leu) single nucleotide variant not provided [RCV001232049] Chr10:101010481 [GRCh38]
Chr10:102770238 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2746G>C (p.Gly916Arg) single nucleotide variant not provided [RCV001203837] Chr10:101008823 [GRCh38]
Chr10:102768580 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2331_2348dup (p.773_774RS[9]) duplication not provided [RCV001046429] Chr10:101010540..101010541 [GRCh38]
Chr10:102770297..102770298 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2600A>G (p.Lys867Arg) single nucleotide variant not provided [RCV001248006] Chr10:101010289 [GRCh38]
Chr10:102770046 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.126C>A (p.Tyr42Ter) single nucleotide variant not provided [RCV001246703] Chr10:101030094 [GRCh38]
Chr10:102789851 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2012G>A (p.Arg671His) single nucleotide variant not provided [RCV001038187] Chr10:101010877 [GRCh38]
Chr10:102770634 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1454G>C (p.Arg485Pro) single nucleotide variant not provided [RCV001038193] Chr10:101018167 [GRCh38]
Chr10:102777924 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1484G>A (p.Ser495Asn) single nucleotide variant not provided [RCV001038204] Chr10:101018137 [GRCh38]
Chr10:102777894 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.185C>T (p.Ser62Leu) single nucleotide variant not provided [RCV001231111] Chr10:101030035 [GRCh38]
Chr10:102789792 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.926G>C (p.Arg309Pro) single nucleotide variant not provided [RCV001207222] Chr10:101020620 [GRCh38]
Chr10:102780377 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2122C>T (p.Arg708Cys) single nucleotide variant not provided [RCV001066464] Chr10:101010767 [GRCh38]
Chr10:102770524 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.874G>A (p.Gly292Ser) single nucleotide variant Inborn genetic diseases [RCV002560193]|not provided [RCV001362868]|not specified [RCV001195257] Chr10:101020672 [GRCh38]
Chr10:102780429 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1115C>A (p.Thr372Lys) single nucleotide variant Inborn genetic diseases [RCV002559235]|not provided [RCV001205848]|not specified [RCV001195254] Chr10:101019031 [GRCh38]
Chr10:102778788 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2639T>C (p.Ile880Thr) single nucleotide variant not provided [RCV001863083]|not specified [RCV001195253] Chr10:101009329 [GRCh38]
Chr10:102769086 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1402A>G (p.Met468Val) single nucleotide variant not provided [RCV001863084]|not specified [RCV001195256] Chr10:101018219 [GRCh38]
Chr10:102777976 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2932C>A (p.Gln978Lys) single nucleotide variant not provided [RCV001069342] Chr10:101008637 [GRCh38]
Chr10:102768394 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2680T>C (p.Phe894Leu) single nucleotide variant Usher syndrome type 2C [RCV002489556]|not provided [RCV001038714] Chr10:101009288 [GRCh38]
Chr10:102769045 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2574C>T (p.Gly858=) single nucleotide variant not provided [RCV001039486] Chr10:101010315 [GRCh38]
Chr10:102770072 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1028C>T (p.Pro343Leu) single nucleotide variant not provided [RCV001040657] Chr10:101019118 [GRCh38]
Chr10:102778875 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.337G>A (p.Val113Ile) single nucleotide variant not provided [RCV001064350] Chr10:101023958 [GRCh38]
Chr10:102783715 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2396C>G (p.Pro799Arg) single nucleotide variant not provided [RCV001203119] Chr10:101010493 [GRCh38]
Chr10:102770250 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1705C>A (p.Leu569Met) single nucleotide variant not provided [RCV001349825] Chr10:101015680 [GRCh38]
Chr10:102775437 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.58G>T (p.Gly20Cys) single nucleotide variant not provided [RCV001303028] Chr10:101030162 [GRCh38]
Chr10:102789919 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2218C>A (p.Pro740Thr) single nucleotide variant not provided [RCV001303482] Chr10:101010671 [GRCh38]
Chr10:102770428 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+547G>A single nucleotide variant not provided [RCV001568297] Chr10:101017552 [GRCh38]
Chr10:102777309 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1102A>G (p.Thr368Ala) single nucleotide variant not provided [RCV001315839] Chr10:101019044 [GRCh38]
Chr10:102778801 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3098C>T (p.Pro1033Leu) single nucleotide variant not provided [RCV001338696] Chr10:101008471 [GRCh38]
Chr10:102768228 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.704G>C (p.Gly235Ala) single nucleotide variant not provided [RCV001317002] Chr10:101022224 [GRCh38]
Chr10:102781981 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.742G>A (p.Glu248Lys) single nucleotide variant Inborn genetic diseases [RCV003166792]|not provided [RCV001314279] Chr10:101021923 [GRCh38]
Chr10:102781680 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1949T>C (p.Leu650Ser) single nucleotide variant not provided [RCV001305293] Chr10:101011746 [GRCh38]
Chr10:102771503 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2719-3T>G single nucleotide variant not provided [RCV001296438] Chr10:101008853 [GRCh38]
Chr10:102768610 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.251T>C (p.Ile84Thr) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001281370] Chr10:101024044 [GRCh38]
Chr10:102783801 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2863C>T (p.Arg955Trp) single nucleotide variant not provided [RCV001342772] Chr10:101008706 [GRCh38]
Chr10:102768463 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2718+9A>G single nucleotide variant not provided [RCV001301301] Chr10:101009241 [GRCh38]
Chr10:102768998 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.626G>A (p.Arg209His) single nucleotide variant Inborn genetic diseases [RCV002547519]|not provided [RCV001351191] Chr10:101022302 [GRCh38]
Chr10:102782059 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.301G>A (p.Val101Met) single nucleotide variant not provided [RCV001299529] Chr10:101023994 [GRCh38]
Chr10:102783751 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2334_2335insTGCAGC (p.Ser778_Arg779insCysSer) insertion not provided [RCV001350920] Chr10:101010554..101010555 [GRCh38]
Chr10:102770311..102770312 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.517A>C (p.Lys173Gln) single nucleotide variant not provided [RCV001316902] Chr10:101023461 [GRCh38]
Chr10:102783218 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.226G>C (p.Ala76Pro) single nucleotide variant not provided [RCV001309411] Chr10:101029994 [GRCh38]
Chr10:102789751 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2335CGCAGC[6] (p.773RS[9]) microsatellite not provided [RCV001309532] Chr10:101010536..101010537 [GRCh38]
Chr10:102770293..102770294 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1526G>A (p.Gly509Glu) single nucleotide variant not provided [RCV001304632] Chr10:101016424 [GRCh38]
Chr10:102776181 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2432G>A (p.Arg811His) single nucleotide variant Usher syndrome type 2C [RCV001328704] Chr10:101010457 [GRCh38]
Chr10:102770214 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2328C>A (p.Ser776Arg) single nucleotide variant not provided [RCV001337912] Chr10:101010561 [GRCh38]
Chr10:102770318 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2746G>A (p.Gly916Arg) single nucleotide variant not provided [RCV001295504] Chr10:101008823 [GRCh38]
Chr10:102768580 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1670G>A (p.Arg557Gln) single nucleotide variant not provided [RCV001361452] Chr10:101015715 [GRCh38]
Chr10:102775472 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.562C>T (p.Arg188Cys) single nucleotide variant not provided [RCV001374131] Chr10:101022366 [GRCh38]
Chr10:102782123 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2694C>T (p.Ala898=) single nucleotide variant not provided [RCV001414722] Chr10:101009274 [GRCh38]
Chr10:102769031 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu) single nucleotide variant Hearing impairment [RCV001375232]|not provided [RCV001865875] Chr10:101023497 [GRCh38]
Chr10:102783254 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1760A>T (p.Glu587Val) single nucleotide variant not provided [RCV001361676] Chr10:101012248 [GRCh38]
Chr10:102772005 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1621T>C (p.Ser541Pro) single nucleotide variant not provided [RCV001314497] Chr10:101015764 [GRCh38]
Chr10:102775521 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2381G>A (p.Arg794Lys) single nucleotide variant not provided [RCV001367850] Chr10:101010508 [GRCh38]
Chr10:102770265 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2745C>T (p.Asp915=) single nucleotide variant not provided [RCV001433060] Chr10:101008824 [GRCh38]
Chr10:102768581 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.720-16G>A single nucleotide variant not provided [RCV001433085] Chr10:101021961 [GRCh38]
Chr10:102781718 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr) single nucleotide variant Hearing impairment [RCV001375315]|not provided [RCV001865877] Chr10:101009273 [GRCh38]
Chr10:102769030 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2019C>T (p.Gly673=) single nucleotide variant not provided [RCV001433903] Chr10:101010870 [GRCh38]
Chr10:102770627 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1571G>A (p.Arg524His) single nucleotide variant Inborn genetic diseases [RCV002547743]|not provided [RCV001360247] Chr10:101016379 [GRCh38]
Chr10:102776136 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.926G>A (p.Arg309Gln) single nucleotide variant Inborn genetic diseases [RCV003166738]|not provided [RCV001306038] Chr10:101020620 [GRCh38]
Chr10:102780377 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2186G>A (p.Arg729Gln) single nucleotide variant not provided [RCV001313709] Chr10:101010703 [GRCh38]
Chr10:102770460 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1408C>T (p.Leu470Phe) single nucleotide variant not provided [RCV001301292] Chr10:101018213 [GRCh38]
Chr10:102777970 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1669C>T (p.Arg557Trp) single nucleotide variant not provided [RCV001341847] Chr10:101015716 [GRCh38]
Chr10:102775473 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.491G>A (p.Arg164Gln) single nucleotide variant not provided [RCV001321478] Chr10:101023487 [GRCh38]
Chr10:102783244 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.598G>A (p.Asp200Asn) single nucleotide variant Inborn genetic diseases [RCV002546991]|Usher syndrome type 2C [RCV002486394]|not provided [RCV001343487] Chr10:101022330 [GRCh38]
Chr10:102782087 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1115C>T (p.Thr372Met) single nucleotide variant not provided [RCV001322754] Chr10:101019031 [GRCh38]
Chr10:102778788 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr) single nucleotide variant Hearing impairment [RCV001375231] Chr10:101009344 [GRCh38]
Chr10:102769101 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu) single nucleotide variant Hearing impairment [RCV001375409] Chr10:101010856 [GRCh38]
Chr10:102770613 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2318_2319insCAGCCGCAGCCG (p.773RS[8]) insertion not provided [RCV001339727] Chr10:101010570..101010571 [GRCh38]
Chr10:102770327..102770328 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.679C>T (p.Arg227Cys) single nucleotide variant not provided [RCV001340537] Chr10:101022249 [GRCh38]
Chr10:102782006 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1379C>T (p.Ala460Val) single nucleotide variant Inborn genetic diseases [RCV002550127]|not provided [RCV001371224] Chr10:101018242 [GRCh38]
Chr10:102777999 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2819G>A (p.Arg940Gln) single nucleotide variant not provided [RCV001297960] Chr10:101008750 [GRCh38]
Chr10:102768507 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3079G>A (p.Ala1027Thr) single nucleotide variant not provided [RCV001309619] Chr10:101008490 [GRCh38]
Chr10:102768247 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2594T>G (p.Leu865Arg) single nucleotide variant not provided [RCV001320163] Chr10:101010295 [GRCh38]
Chr10:102770052 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.349G>A (p.Glu117Lys) single nucleotide variant not provided [RCV001371751] Chr10:101023946 [GRCh38]
Chr10:102783703 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.440G>A (p.Gly147Asp) single nucleotide variant not provided [RCV001296064] Chr10:101023538 [GRCh38]
Chr10:102783295 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1976C>T (p.Pro659Leu) single nucleotide variant not provided [RCV001337925] Chr10:101011719 [GRCh38]
Chr10:102771476 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1515A>G (p.Ile505Met) single nucleotide variant not provided [RCV001342347] Chr10:101018106 [GRCh38]
Chr10:102777863 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2123G>A (p.Arg708His) single nucleotide variant Inborn genetic diseases [RCV002545142]|not provided [RCV001324099] Chr10:101010766 [GRCh38]
Chr10:102770523 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2158G>T (p.Val720Leu) single nucleotide variant not provided [RCV001346929] Chr10:101010731 [GRCh38]
Chr10:102770488 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2211del (p.Gln737fs) deletion not provided [RCV001386180] Chr10:101010678 [GRCh38]
Chr10:102770435 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1022C>T (p.Ser341Phe) single nucleotide variant not provided [RCV001313134] Chr10:101019124 [GRCh38]
Chr10:102778881 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2336_2337insTAGCCGCAGCCG (p.773RS[8]) insertion not provided [RCV001349542] Chr10:101010552..101010553 [GRCh38]
Chr10:102770309..102770310 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1748G>A (p.Arg583Gln) single nucleotide variant not provided [RCV001345006] Chr10:101015637 [GRCh38]
Chr10:102775394 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2110G>T (p.Ala704Ser) single nucleotide variant not provided [RCV001373995] Chr10:101010779 [GRCh38]
Chr10:102770536 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2747G>C (p.Gly916Ala) single nucleotide variant not provided [RCV001309942] Chr10:101008822 [GRCh38]
Chr10:102768579 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.254A>G (p.His85Arg) single nucleotide variant not provided [RCV001350322] Chr10:101024041 [GRCh38]
Chr10:102783798 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.493C>T (p.Arg165Cys) single nucleotide variant not provided [RCV001345141] Chr10:101023485 [GRCh38]
Chr10:102783242 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.364G>A (p.Ala122Thr) single nucleotide variant not provided [RCV001347497] Chr10:101023931 [GRCh38]
Chr10:102783688 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2999C>T (p.Pro1000Leu) single nucleotide variant not provided [RCV001361693] Chr10:101008570 [GRCh38]
Chr10:102768327 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1964A>G (p.Gln655Arg) single nucleotide variant not provided [RCV001304825] Chr10:101011731 [GRCh38]
Chr10:102771488 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.658T>G (p.Phe220Val) single nucleotide variant not provided [RCV001350313] Chr10:101022270 [GRCh38]
Chr10:102782027 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2319_2328del (p.Ser774fs) deletion Usher syndrome [RCV003389557] Chr10:101010561..101010570 [GRCh38]
Chr10:102770318..102770327 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2218C>T (p.Pro740Ser) single nucleotide variant not provided [RCV001326959] Chr10:101010671 [GRCh38]
Chr10:102770428 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1424G>A (p.Gly475Glu) single nucleotide variant not provided [RCV001342863] Chr10:101018197 [GRCh38]
Chr10:102777954 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2551G>A (p.Ala851Thr) single nucleotide variant not provided [RCV001362022] Chr10:101010338 [GRCh38]
Chr10:102770095 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3045del (p.Ser1016fs) deletion not provided [RCV001350565] Chr10:101008524 [GRCh38]
Chr10:102768281 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1216C>T (p.Arg406Cys) single nucleotide variant not provided [RCV001368005] Chr10:101018930 [GRCh38]
Chr10:102778687 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2335CGCAGC[1] (p.773RS[4]) microsatellite not provided [RCV001359841] Chr10:101010537..101010548 [GRCh38]
Chr10:102770294..102770305 [GRCh37]
Chr10:10q24.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.2789C>A (p.Thr930Asn) single nucleotide variant not provided [RCV001298768] Chr10:101008780 [GRCh38]
Chr10:102768537 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1069G>A (p.Gly357Ser) single nucleotide variant not provided [RCV001364347] Chr10:101019077 [GRCh38]
Chr10:102778834 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1662G>C (p.Trp554Cys) single nucleotide variant not provided [RCV001317501] Chr10:101015723 [GRCh38]
Chr10:102775480 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.83G>A (p.Arg28Gln) single nucleotide variant not provided [RCV001373367] Chr10:101030137 [GRCh38]
Chr10:102789894 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2692dup (p.Ala898fs) duplication not provided [RCV001368418] Chr10:101009275..101009276 [GRCh38]
Chr10:102769032..102769033 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.59G>C (p.Gly20Ala) single nucleotide variant not provided [RCV001308515] Chr10:101030161 [GRCh38]
Chr10:102789918 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1325-22del deletion Deafness, autosomal recessive 57 [RCV001328700] Chr10:101018318 [GRCh38]
Chr10:102778075 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2675A>C (p.Lys892Thr) single nucleotide variant not provided [RCV001337565] Chr10:101009293 [GRCh38]
Chr10:102769050 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2132_2146del (p.His711_Pro715del) deletion not provided [RCV001366291] Chr10:101010743..101010757 [GRCh38]
Chr10:102770500..102770514 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2330_2331del (p.Arg777fs) deletion Usher syndrome [RCV003389556] Chr10:101010558..101010559 [GRCh38]
Chr10:102770315..102770316 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2698T>C (p.Phe900Leu) single nucleotide variant not provided [RCV001371051] Chr10:101009270 [GRCh38]
Chr10:102769027 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1664A>G (p.Glu555Gly) single nucleotide variant not provided [RCV001366466] Chr10:101015721 [GRCh38]
Chr10:102775478 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1106C>T (p.Ala369Val) single nucleotide variant not provided [RCV001318161] Chr10:101019040 [GRCh38]
Chr10:102778797 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2107A>G (p.Ser703Gly) single nucleotide variant not provided [RCV001366618] Chr10:101010782 [GRCh38]
Chr10:102770539 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.665T>G (p.Leu222Arg) single nucleotide variant not provided [RCV001366818] Chr10:101022263 [GRCh38]
Chr10:102782020 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2040C>T (p.Asn680=) single nucleotide variant not provided [RCV001395569] Chr10:101010849 [GRCh38]
Chr10:102770606 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.92T>C (p.Leu31Pro) single nucleotide variant not provided [RCV001297463] Chr10:101030128 [GRCh38]
Chr10:102789885 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1255G>T (p.Ala419Ser) single nucleotide variant not provided [RCV001368069] Chr10:101018891 [GRCh38]
Chr10:102778648 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1485C>A (p.Ser495Arg) single nucleotide variant not provided [RCV001367257]|not specified [RCV001449718] Chr10:101018136 [GRCh38]
Chr10:102777893 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.890A>T (p.Tyr297Phe) single nucleotide variant not provided [RCV001326961] Chr10:101020656 [GRCh38]
Chr10:102780413 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1589G>A (p.Arg530Gln) single nucleotide variant not provided [RCV001360934] Chr10:101015796 [GRCh38]
Chr10:102775553 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2077G>A (p.Glu693Lys) single nucleotide variant not provided [RCV001327074] Chr10:101010812 [GRCh38]
Chr10:102770569 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1522+2dup duplication Hearing impairment [RCV001375149]|not provided [RCV001865873] Chr10:101018096..101018097 [GRCh38]
Chr10:102777853..102777854 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2306G>A (p.Arg769Gln) single nucleotide variant not provided [RCV001365566] Chr10:101010583 [GRCh38]
Chr10:102770340 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2515C>T (p.Pro839Ser) single nucleotide variant Usher syndrome, type IIC, GPR98/PDZD7 digenic [RCV001535738]|not provided [RCV001308273] Chr10:101010374 [GRCh38]
Chr10:102770131 [GRCh37]
Chr10:10q24.31
uncertain significance|not provided
NM_001195263.2(PDZD7):c.1531G>A (p.Val511Met) single nucleotide variant not provided [RCV001365749] Chr10:101016419 [GRCh38]
Chr10:102776176 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.623G>T (p.Arg208Leu) single nucleotide variant not provided [RCV001295526] Chr10:101022305 [GRCh38]
Chr10:102782062 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1799T>A (p.Ile600Asn) single nucleotide variant not provided [RCV001325010] Chr10:101012209 [GRCh38]
Chr10:102771966 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.623G>A (p.Arg208Gln) single nucleotide variant not provided [RCV001304676] Chr10:101022305 [GRCh38]
Chr10:102782062 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2329C>T (p.Arg777Cys) single nucleotide variant not provided [RCV001469420] Chr10:101010560 [GRCh38]
Chr10:102770317 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2253G>A (p.Leu751=) single nucleotide variant not provided [RCV001466691] Chr10:101010636 [GRCh38]
Chr10:102770393 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2460C>G (p.Pro820=) single nucleotide variant not provided [RCV001490422] Chr10:101010429 [GRCh38]
Chr10:102770186 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2181C>A (p.Pro727=) single nucleotide variant not provided [RCV001487445] Chr10:101010708 [GRCh38]
Chr10:102770465 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1812G>T (p.Pro604=) single nucleotide variant not provided [RCV001458422] Chr10:101012196 [GRCh38]
Chr10:102771953 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.873C>A (p.Thr291=) single nucleotide variant not provided [RCV001482645] Chr10:101020673 [GRCh38]
Chr10:102780430 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1653T>G (p.Val551=) single nucleotide variant not provided [RCV001510727] Chr10:101015732 [GRCh38]
Chr10:102775489 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.1579G>A (p.Glu527Lys) single nucleotide variant not provided [RCV001521197] Chr10:101015806 [GRCh38]
Chr10:102775563 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.53G>A (p.Ser18Asn) single nucleotide variant not provided [RCV001475525] Chr10:101030167 [GRCh38]
Chr10:102789924 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1842-12G>A single nucleotide variant not provided [RCV001462030] Chr10:101012028 [GRCh38]
Chr10:102771785 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2335CGCAGC[2] (p.773RS[5]) microsatellite not provided [RCV001480607] Chr10:101010537..101010542 [GRCh38]
Chr10:102770294..102770299 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.909G>A (p.Glu303=) single nucleotide variant not provided [RCV001483637] Chr10:101020637 [GRCh38]
Chr10:102780394 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.368-20A>G single nucleotide variant not provided [RCV001516673] Chr10:101023630 [GRCh38]
Chr10:102783387 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2751G>A (p.Glu917=) single nucleotide variant not provided [RCV001477157] Chr10:101008818 [GRCh38]
Chr10:102768575 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2817C>T (p.Ala939=) single nucleotide variant not provided [RCV001497802] Chr10:101008752 [GRCh38]
Chr10:102768509 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2313G>A (p.Gln771=) single nucleotide variant not provided [RCV001503555] Chr10:101010576 [GRCh38]
Chr10:102770333 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2127C>T (p.His709=) single nucleotide variant not provided [RCV001442824] Chr10:101010762 [GRCh38]
Chr10:102770519 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.867+19G>A single nucleotide variant not provided [RCV001419180] Chr10:101021779 [GRCh38]
Chr10:102781536 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.786C>T (p.Asn262=) single nucleotide variant not provided [RCV001518215] Chr10:101021879 [GRCh38]
Chr10:102781636 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.929-13C>T single nucleotide variant not provided [RCV001457178] Chr10:101019230 [GRCh38]
Chr10:102778987 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2073G>C (p.Leu691=) single nucleotide variant not provided [RCV001486389] Chr10:101010816 [GRCh38]
Chr10:102770573 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1362C>T (p.Ser454=) single nucleotide variant not provided [RCV001443276] Chr10:101018259 [GRCh38]
Chr10:102778016 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.621C>G (p.Val207=) single nucleotide variant not provided [RCV001432589] Chr10:101022307 [GRCh38]
Chr10:102782064 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1655dup (p.Ala553fs) duplication PDZD7-related condition [RCV003399197]|not provided [RCV001381079] Chr10:101015729..101015730 [GRCh38]
Chr10:102775486..102775487 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.1977C>G (p.Pro659=) single nucleotide variant not provided [RCV001531079] Chr10:101011718 [GRCh38]
Chr10:102771475 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.582C>T (p.Cys194=) single nucleotide variant not provided [RCV001402154] Chr10:101022346 [GRCh38]
Chr10:102782103 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2850C>T (p.Pro950=) single nucleotide variant not provided [RCV001409805] Chr10:101008719 [GRCh38]
Chr10:102768476 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.414G>A (p.Gly138=) single nucleotide variant not provided [RCV001402698] Chr10:101023564 [GRCh38]
Chr10:102783321 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1353G>A (p.Lys451=) single nucleotide variant not provided [RCV001444406] Chr10:101018268 [GRCh38]
Chr10:102778025 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2013C>T (p.Arg671=) single nucleotide variant not provided [RCV001441910] Chr10:101010876 [GRCh38]
Chr10:102770633 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1399C>T (p.Leu467=) single nucleotide variant not provided [RCV001441953] Chr10:101018222 [GRCh38]
Chr10:102777979 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2719-16_2719-13del microsatellite not provided [RCV001423236] Chr10:101008863..101008866 [GRCh38]
Chr10:102768620..102768623 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.831G>A (p.Val277=) single nucleotide variant not provided [RCV001392969] Chr10:101021834 [GRCh38]
Chr10:102781591 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.384C>T (p.Cys128=) single nucleotide variant not provided [RCV001419472] Chr10:101023594 [GRCh38]
Chr10:102783351 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1147dup (p.Trp383fs) duplication not provided [RCV001385729] Chr10:101018998..101018999 [GRCh38]
Chr10:102778755..102778756 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.519G>A (p.Lys173=) single nucleotide variant not provided [RCV001401707] Chr10:101023459 [GRCh38]
Chr10:102783216 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1136G>A (p.Arg379Gln) single nucleotide variant Inborn genetic diseases [RCV002559301]|not provided [RCV001439182] Chr10:101019010 [GRCh38]
Chr10:102778767 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.255T>C (p.His85=) single nucleotide variant not provided [RCV001472642] Chr10:101024040 [GRCh38]
Chr10:102783797 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1841+7G>A single nucleotide variant not provided [RCV001472993] Chr10:101012160 [GRCh38]
Chr10:102771917 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2832G>A (p.Glu944=) single nucleotide variant not provided [RCV001495044] Chr10:101008737 [GRCh38]
Chr10:102768494 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+207_1522+223del microsatellite not provided [RCV001617061] Chr10:101017876..101017892 [GRCh38]
Chr10:102777633..102777649 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1749+188A>G single nucleotide variant not provided [RCV001617099] Chr10:101015448 [GRCh38]
Chr10:102775205 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.719+52G>T single nucleotide variant not provided [RCV001586356] Chr10:101022157 [GRCh38]
Chr10:102781914 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+260CCTT[2] microsatellite not provided [RCV001698746] Chr10:101017824..101017831 [GRCh38]
Chr10:102777581..102777588 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.1575C>T (p.Asp525=) single nucleotide variant not provided [RCV001496647] Chr10:101015810 [GRCh38]
Chr10:102775567 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1875C>T (p.Phe625=) single nucleotide variant not provided [RCV001466476] Chr10:101011983 [GRCh38]
Chr10:102771740 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2331T>C (p.Arg777=) single nucleotide variant not provided [RCV001452686] Chr10:101010558 [GRCh38]
Chr10:102770315 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+232dup duplication not provided [RCV001589842] Chr10:101017866..101017867 [GRCh38]
Chr10:102777623..102777624 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.300C>T (p.Ser100=) single nucleotide variant not provided [RCV001463302] Chr10:101023995 [GRCh38]
Chr10:102783752 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1916C>G (p.Ala639Gly) single nucleotide variant not provided [RCV001522882] Chr10:101011942 [GRCh38]
Chr10:102771699 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.1527G>A (p.Gly509=) single nucleotide variant not provided [RCV001488191] Chr10:101016423 [GRCh38]
Chr10:102776180 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2006-38_2006-37insGAGGTGGTCCAGTCTGG insertion not provided [RCV001669894] Chr10:101010920..101010921 [GRCh38]
Chr10:102770677..102770678 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.672C>T (p.Phe224=) single nucleotide variant not provided [RCV001456237] Chr10:101022256 [GRCh38]
Chr10:102782013 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1359G>C (p.Gly453=) single nucleotide variant not provided [RCV001481092] Chr10:101018262 [GRCh38]
Chr10:102778019 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1942C>T (p.Pro648Ser) single nucleotide variant not provided [RCV001513981] Chr10:101011753 [GRCh38]
Chr10:102771510 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.336C>T (p.Phe112=) single nucleotide variant not provided [RCV001699955] Chr10:101023959 [GRCh38]
Chr10:102783716 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.226+9G>A single nucleotide variant not provided [RCV001501639] Chr10:101029985 [GRCh38]
Chr10:102789742 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2772C>T (p.His924=) single nucleotide variant not provided [RCV001437973] Chr10:101008797 [GRCh38]
Chr10:102768554 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.150G>A (p.Leu50=) single nucleotide variant not provided [RCV001436065] Chr10:101030070 [GRCh38]
Chr10:102789827 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.963C>T (p.Ala321=) single nucleotide variant not provided [RCV001442468] Chr10:101019183 [GRCh38]
Chr10:102778940 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2727C>T (p.Phe909=) single nucleotide variant not provided [RCV001498054] Chr10:101008842 [GRCh38]
Chr10:102768599 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2598C>T (p.Ser866=) single nucleotide variant not provided [RCV001477135] Chr10:101010291 [GRCh38]
Chr10:102770048 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1539G>A (p.Pro513=) single nucleotide variant not provided [RCV001429197] Chr10:101016411 [GRCh38]
Chr10:102776168 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1282C>A (p.Arg428=) single nucleotide variant not provided [RCV001462873] Chr10:101018864 [GRCh38]
Chr10:102778621 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.324C>T (p.Gly108=) single nucleotide variant not provided [RCV001514664] Chr10:101023971 [GRCh38]
Chr10:102783728 [GRCh37]
Chr10:10q24.31
benign|likely benign
NM_001195263.2(PDZD7):c.2691G>C (p.Gly897=) single nucleotide variant not provided [RCV001500371] Chr10:101009277 [GRCh38]
Chr10:102769034 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1456A>C (p.Arg486=) single nucleotide variant not provided [RCV001429469] Chr10:101018165 [GRCh38]
Chr10:102777922 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.939G>A (p.Gly313=) single nucleotide variant not provided [RCV001496430] Chr10:101019207 [GRCh38]
Chr10:102778964 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.720-17C>T single nucleotide variant not provided [RCV001443402] Chr10:101021962 [GRCh38]
Chr10:102781719 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.993C>A (p.Cys331Ter) single nucleotide variant not provided [RCV001385626] Chr10:101019153 [GRCh38]
Chr10:102778910 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.2586A>G (p.Thr862=) single nucleotide variant not provided [RCV001425888] Chr10:101010303 [GRCh38]
Chr10:102770060 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1750-4G>T single nucleotide variant not provided [RCV001417955] Chr10:101012262 [GRCh38]
Chr10:102772019 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1293C>T (p.Ile431=) single nucleotide variant not provided [RCV001505626] Chr10:101018853 [GRCh38]
Chr10:102778610 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2618-6_2619del deletion not provided [RCV002244502] Chr10:101009349..101009356 [GRCh38]
Chr10:102769106..102769113 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV001756622] Chr10:101022365 [GRCh38]
Chr10:102782122 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.547G>A (p.Asp183Asn) single nucleotide variant not provided [RCV001763233] Chr10:101022381 [GRCh38]
Chr10:102782138 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2020T>C (p.Phe674Leu) single nucleotide variant not provided [RCV002259507] Chr10:101010869 [GRCh38]
Chr10:102770626 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.464_471del (p.Ser155fs) deletion not provided [RCV001782594] Chr10:101023507..101023514 [GRCh38]
Chr10:102783264..102783271 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.574G>A (p.Glu192Lys) single nucleotide variant not provided [RCV001787498] Chr10:101022354 [GRCh38]
Chr10:102782111 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.902T>C (p.Val301Ala) single nucleotide variant not provided [RCV001768497] Chr10:101020644 [GRCh38]
Chr10:102780401 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3067_3072del (p.Asp1023_Ser1024del) deletion not provided [RCV001765872] Chr10:101008497..101008502 [GRCh38]
Chr10:102768254..102768259 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2806C>T (p.Arg936Ter) single nucleotide variant not provided [RCV001764829] Chr10:101008763 [GRCh38]
Chr10:102768520 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1543C>T (p.Gln515Ter) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV003333179]|Usher syndrome type 2C [RCV003147675]|not provided [RCV001782592] Chr10:101016407 [GRCh38]
Chr10:102776164 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.649del (p.Ser217fs) deletion not provided [RCV001782593] Chr10:101022279 [GRCh38]
Chr10:102782036 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.-5C>A single nucleotide variant not provided [RCV001763989] Chr10:101030224 [GRCh38]
Chr10:102789981 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.494G>A (p.Arg165His) single nucleotide variant not provided [RCV001797408] Chr10:101023484 [GRCh38]
Chr10:102783241 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1529G>T (p.Gly510Val) single nucleotide variant not provided [RCV001760554] Chr10:101016421 [GRCh38]
Chr10:102776178 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.305G>A (p.Arg102His) single nucleotide variant not provided [RCV001760998] Chr10:101023990 [GRCh38]
Chr10:102783747 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1113del (p.Thr372fs) deletion not provided [RCV001822135] Chr10:101019033 [GRCh38]
Chr10:102778790 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.1149G>C (p.Trp383Cys) single nucleotide variant Inborn genetic diseases [RCV003375389]|not provided [RCV001907710] Chr10:101018997 [GRCh38]
Chr10:102778754 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.649T>C (p.Ser217Pro) single nucleotide variant not provided [RCV001915334] Chr10:101022279 [GRCh38]
Chr10:102782036 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.482T>C (p.Met161Thr) single nucleotide variant not provided [RCV002044636] Chr10:101023496 [GRCh38]
Chr10:102783253 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.894G>A (p.Lys298=) single nucleotide variant not provided [RCV002044888] Chr10:101020652 [GRCh38]
Chr10:102780409 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.2459C>A (p.Pro820His) single nucleotide variant not provided [RCV002044826] Chr10:101010430 [GRCh38]
Chr10:102770187 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1915G>A (p.Ala639Thr) single nucleotide variant not provided [RCV002022640] Chr10:101011943 [GRCh38]
Chr10:102771700 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1890G>A (p.Met630Ile) single nucleotide variant not provided [RCV002042594] Chr10:101011968 [GRCh38]
Chr10:102771725 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.226+5G>A single nucleotide variant not provided [RCV001864466] Chr10:101029989 [GRCh38]
Chr10:102789746 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2410G>A (p.Ala804Thr) single nucleotide variant not provided [RCV001912427] Chr10:101010479 [GRCh38]
Chr10:102770236 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1075C>G (p.Arg359Gly) single nucleotide variant not provided [RCV001988745] Chr10:101019071 [GRCh38]
Chr10:102778828 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2344_2355dup (p.Ser782_Ser785dup) duplication not provided [RCV001864588] Chr10:101010533..101010534 [GRCh38]
Chr10:102770290..102770291 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1450G>A (p.Gly484Arg) single nucleotide variant not provided [RCV001874571] Chr10:101018171 [GRCh38]
Chr10:102777928 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.262C>T (p.Arg88Trp) single nucleotide variant not provided [RCV001896610] Chr10:101024033 [GRCh38]
Chr10:102783790 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.22G>A (p.Gly8Ser) single nucleotide variant not provided [RCV001889589] Chr10:101030198 [GRCh38]
Chr10:102789955 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.445G>A (p.Ala149Thr) single nucleotide variant not provided [RCV001874402] Chr10:101023533 [GRCh38]
Chr10:102783290 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.481A>G (p.Met161Val) single nucleotide variant not provided [RCV001983858] Chr10:101023497 [GRCh38]
Chr10:102783254 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1657G>T (p.Ala553Ser) single nucleotide variant not provided [RCV002044346] Chr10:101015728 [GRCh38]
Chr10:102775485 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2629T>G (p.Ser877Ala) single nucleotide variant not provided [RCV002005283] Chr10:101009339 [GRCh38]
Chr10:102769096 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2230C>T (p.Arg744Trp) single nucleotide variant not provided [RCV002008135] Chr10:101010659 [GRCh38]
Chr10:102770416 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1870C>T (p.Arg624Cys) single nucleotide variant not provided [RCV002024669] Chr10:101011988 [GRCh38]
Chr10:102771745 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2797C>T (p.Arg933Trp) single nucleotide variant not provided [RCV001863424] Chr10:101008772 [GRCh38]
Chr10:102768529 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2047C>T (p.Pro683Ser) single nucleotide variant not provided [RCV001969709] Chr10:101010842 [GRCh38]
Chr10:102770599 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.500G>A (p.Gly167Asp) single nucleotide variant not provided [RCV001871461] Chr10:101023478 [GRCh38]
Chr10:102783235 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2853dup (p.Pro952fs) duplication not provided [RCV001870799] Chr10:101008715..101008716 [GRCh38]
Chr10:102768472..102768473 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1322G>C (p.Trp441Ser) single nucleotide variant not provided [RCV001927248] Chr10:101018824 [GRCh38]
Chr10:102778581 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2902G>T (p.Gly968Cys) single nucleotide variant not provided [RCV002023311] Chr10:101008667 [GRCh38]
Chr10:102768424 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.157G>A (p.Gly53Arg) single nucleotide variant not provided [RCV001889070] Chr10:101030063 [GRCh38]
Chr10:102789820 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1758C>T (p.His586=) single nucleotide variant not provided [RCV001909534] Chr10:101012250 [GRCh38]
Chr10:102772007 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2644T>C (p.Ser882Pro) single nucleotide variant not provided [RCV002022978] Chr10:101009324 [GRCh38]
Chr10:102769081 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2421G>A (p.Met807Ile) single nucleotide variant not provided [RCV001895572] Chr10:101010468 [GRCh38]
Chr10:102770225 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.887C>T (p.Ala296Val) single nucleotide variant not provided [RCV001909693] Chr10:101020659 [GRCh38]
Chr10:102780416 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2444C>T (p.Pro815Leu) single nucleotide variant not provided [RCV001891212] Chr10:101010445 [GRCh38]
Chr10:102770202 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2383C>T (p.Arg795Cys) single nucleotide variant not provided [RCV002041706] Chr10:101010506 [GRCh38]
Chr10:102770263 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.472C>T (p.Arg158Cys) single nucleotide variant not provided [RCV001871002] Chr10:101023506 [GRCh38]
Chr10:102783263 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.368-4G>A single nucleotide variant not provided [RCV001969543] Chr10:101023614 [GRCh38]
Chr10:102783371 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1811C>T (p.Pro604Leu) single nucleotide variant not provided [RCV001987586] Chr10:101012197 [GRCh38]
Chr10:102771954 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.68G>A (p.Ser23Asn) single nucleotide variant not provided [RCV001969582] Chr10:101030152 [GRCh38]
Chr10:102789909 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2318_2319inv (p.Arg773His) inversion not provided [RCV001928551] Chr10:101010570..101010571 [GRCh38]
Chr10:102770327..102770328 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1921A>G (p.Lys641Glu) single nucleotide variant not provided [RCV001966798] Chr10:101011937 [GRCh38]
Chr10:102771694 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2353A>C (p.Ser785Arg) single nucleotide variant Hearing loss, autosomal recessive 57 [RCV001834550] Chr10:101010536 [GRCh38]
Chr10:102770293 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.790G>A (p.Val264Ile) single nucleotide variant not provided [RCV001968477] Chr10:101021875 [GRCh38]
Chr10:102781632 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.464G>C (p.Ser155Thr) single nucleotide variant not provided [RCV001984163] Chr10:101023514 [GRCh38]
Chr10:102783271 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.626G>C (p.Arg209Pro) single nucleotide variant not provided [RCV001967090] Chr10:101022302 [GRCh38]
Chr10:102782059 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.868-5C>A single nucleotide variant not provided [RCV002043382] Chr10:101020683 [GRCh38]
Chr10:102780440 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1652T>G (p.Val551Gly) single nucleotide variant not provided [RCV001928704] Chr10:101015733 [GRCh38]
Chr10:102775490 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1813G>A (p.Glu605Lys) single nucleotide variant not provided [RCV001947518] Chr10:101012195 [GRCh38]
Chr10:102771952 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.727C>G (p.His243Asp) single nucleotide variant not provided [RCV002041184] Chr10:101021938 [GRCh38]
Chr10:102781695 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.893A>G (p.Lys298Arg) single nucleotide variant not provided [RCV001926959] Chr10:101020653 [GRCh38]
Chr10:102780410 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.766G>A (p.Asp256Asn) single nucleotide variant not provided [RCV002041447] Chr10:101021899 [GRCh38]
Chr10:102781656 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.54C>A (p.Ser18Arg) single nucleotide variant not provided [RCV002039952] Chr10:101030166 [GRCh38]
Chr10:102789923 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1526G>C (p.Gly509Ala) single nucleotide variant not provided [RCV001894620] Chr10:101016424 [GRCh38]
Chr10:102776181 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1452_1454dup (p.Arg486dup) duplication not provided [RCV001969492] Chr10:101018166..101018167 [GRCh38]
Chr10:102777923..102777924 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2798G>A (p.Arg933Gln) single nucleotide variant not provided [RCV001983150] Chr10:101008771 [GRCh38]
Chr10:102768528 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1501C>T (p.Pro501Ser) single nucleotide variant not provided [RCV001909736] Chr10:101018120 [GRCh38]
Chr10:102777877 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2452G>T (p.Ala818Ser) single nucleotide variant not provided [RCV001889448] Chr10:101010437 [GRCh38]
Chr10:102770194 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2220del (p.Val741fs) deletion not provided [RCV001964466] Chr10:101010669 [GRCh38]
Chr10:102770426 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1649A>G (p.Gln550Arg) single nucleotide variant not provided [RCV001927164] Chr10:101015736 [GRCh38]
Chr10:102775493 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.630C>A (p.Ile210=) single nucleotide variant not provided [RCV001969122] Chr10:101022298 [GRCh38]
Chr10:102782055 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.393C>A (p.Asp131Glu) single nucleotide variant not provided [RCV002020695] Chr10:101023585 [GRCh38]
Chr10:102783342 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1505G>T (p.Arg502Leu) single nucleotide variant not provided [RCV002043429] Chr10:101018116 [GRCh38]
Chr10:102777873 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2024A>G (p.Tyr675Cys) single nucleotide variant not provided [RCV002041516] Chr10:101010865 [GRCh38]
Chr10:102770622 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.918dup (p.Leu307fs) duplication not provided [RCV001942234] Chr10:101020627..101020628 [GRCh38]
Chr10:102780384..102780385 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1325-7T>G single nucleotide variant not provided [RCV001993598] Chr10:101018303 [GRCh38]
Chr10:102778060 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2455A>G (p.Arg819Gly) single nucleotide variant not provided [RCV001881758] Chr10:101010434 [GRCh38]
Chr10:102770191 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1090G>C (p.Gly364Arg) single nucleotide variant not provided [RCV001883844] Chr10:101019056 [GRCh38]
Chr10:102778813 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1355C>T (p.Ser452Leu) single nucleotide variant not provided [RCV001942348] Chr10:101018266 [GRCh38]
Chr10:102778023 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.502C>T (p.Arg168Cys) single nucleotide variant Inborn genetic diseases [RCV003289408]|not provided [RCV002038974] Chr10:101023476 [GRCh38]
Chr10:102783233 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1094G>A (p.Arg365Gln) single nucleotide variant not provided [RCV001997765] Chr10:101019052 [GRCh38]
Chr10:102778809 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1323G>C (p.Trp441Cys) single nucleotide variant not provided [RCV002049584] Chr10:101018823 [GRCh38]
Chr10:102778580 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.652G>T (p.Asp218Tyr) single nucleotide variant not provided [RCV001867497] Chr10:101022276 [GRCh38]
Chr10:102782033 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2462del (p.Pro821fs) deletion not provided [RCV002037732] Chr10:101010427 [GRCh38]
Chr10:102770184 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.741C>A (p.Ala247=) single nucleotide variant not provided [RCV001888083] Chr10:101021924 [GRCh38]
Chr10:102781681 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.1907C>T (p.Ala636Val) single nucleotide variant not provided [RCV002028557] Chr10:101011951 [GRCh38]
Chr10:102771708 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2188A>G (p.Ile730Val) single nucleotide variant not provided [RCV001974407] Chr10:101010701 [GRCh38]
Chr10:102770458 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.59G>A (p.Gly20Asp) single nucleotide variant not provided [RCV002033620] Chr10:101030161 [GRCh38]
Chr10:102789918 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2843G>C (p.Arg948Thr) single nucleotide variant not provided [RCV001879486] Chr10:101008726 [GRCh38]
Chr10:102768483 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.958C>T (p.Pro320Ser) single nucleotide variant not provided [RCV002035810] Chr10:101019188 [GRCh38]
Chr10:102778945 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2239C>T (p.Arg747Trp) single nucleotide variant not provided [RCV001962690] Chr10:101010650 [GRCh38]
Chr10:102770407 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1213G>C (p.Gly405Arg) single nucleotide variant not provided [RCV002017427] Chr10:101018933 [GRCh38]
Chr10:102778690 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) deletion not provided [RCV001919989] Chr10:101008771..101008773 [GRCh38]
Chr10:102768528..102768530 [GRCh37]
Chr10:10q24.31
conflicting interpretations of pathogenicity|uncertain significance
NM_001195263.2(PDZD7):c.2568dup (p.Ser857fs) duplication not provided [RCV002000152] Chr10:101010320..101010321 [GRCh38]
Chr10:102770077..102770078 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.196C>T (p.Arg66Cys) single nucleotide variant not provided [RCV002009957] Chr10:101030024 [GRCh38]
Chr10:102789781 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1198G>A (p.Asp400Asn) single nucleotide variant not provided [RCV002033847] Chr10:101018948 [GRCh38]
Chr10:102778705 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.29A>G (p.Asp10Gly) single nucleotide variant not provided [RCV001961710] Chr10:101030191 [GRCh38]
Chr10:102789948 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1591G>A (p.Ala531Thr) single nucleotide variant not provided [RCV001901508] Chr10:101015794 [GRCh38]
Chr10:102775551 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.312C>G (p.Gly104=) single nucleotide variant not provided [RCV001888408] Chr10:101023983 [GRCh38]
Chr10:102783740 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1871G>A (p.Arg624His) single nucleotide variant not provided [RCV001955460] Chr10:101011987 [GRCh38]
Chr10:102771744 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1363C>T (p.Pro455Ser) single nucleotide variant not provided [RCV001899017] Chr10:101018258 [GRCh38]
Chr10:102778015 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.727C>A (p.His243Asn) single nucleotide variant not provided [RCV002030878] Chr10:101021938 [GRCh38]
Chr10:102781695 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.109T>C (p.Ser37Pro) single nucleotide variant not provided [RCV001951731] Chr10:101030111 [GRCh38]
Chr10:102789868 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1449C>A (p.Asp483Glu) single nucleotide variant not provided [RCV001955622] Chr10:101018172 [GRCh38]
Chr10:102777929 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.989C>G (p.Ser330Trp) single nucleotide variant not provided [RCV002028338] Chr10:101019157 [GRCh38]
Chr10:102778914 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1060G>A (p.Glu354Lys) single nucleotide variant not provided [RCV001902112] Chr10:101019086 [GRCh38]
Chr10:102778843 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2148del (p.Leu717fs) deletion not provided [RCV001903227] Chr10:101010741 [GRCh38]
Chr10:102770498 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.877C>T (p.Arg293Trp) single nucleotide variant not provided [RCV001877721] Chr10:101020669 [GRCh38]
Chr10:102780426 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.959C>T (p.Pro320Leu) single nucleotide variant not provided [RCV002028638] Chr10:101019187 [GRCh38]
Chr10:102778944 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1489G>T (p.Ala497Ser) single nucleotide variant not provided [RCV002013508] Chr10:101018132 [GRCh38]
Chr10:102777889 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1228T>G (p.Ser410Ala) single nucleotide variant not provided [RCV001935920] Chr10:101018918 [GRCh38]
Chr10:102778675 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2346_2357dup (p.Arg783_Arg786dup) duplication not provided [RCV002009545] Chr10:101010531..101010532 [GRCh38]
Chr10:102770288..102770289 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2142C>G (p.Ile714Met) single nucleotide variant not provided [RCV001990317] Chr10:101010747 [GRCh38]
Chr10:102770504 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3015G>C (p.Arg1005Ser) single nucleotide variant not provided [RCV002013469] Chr10:101008554 [GRCh38]
Chr10:102768311 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001867738] Chr10:101030219 [GRCh38]
Chr10:102789976 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3073A>G (p.Lys1025Glu) single nucleotide variant not provided [RCV001991569] Chr10:101008496 [GRCh38]
Chr10:102768253 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.432del (p.Thr145fs) deletion not provided [RCV001934231] Chr10:101023546 [GRCh38]
Chr10:102783303 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.167G>A (p.Arg56His) single nucleotide variant not provided [RCV001902781] Chr10:101030053 [GRCh38]
Chr10:102789810 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.176G>C (p.Arg59Pro) single nucleotide variant not provided [RCV001881886] Chr10:101030044 [GRCh38]
Chr10:102789801 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2356C>T (p.Arg786Trp) single nucleotide variant not provided [RCV002031789] Chr10:101010533 [GRCh38]
Chr10:102770290 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2446C>T (p.Arg816Trp) single nucleotide variant not provided [RCV001897313] Chr10:101010443 [GRCh38]
Chr10:102770200 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3059_3062del (p.Gln1020fs) deletion not provided [RCV001922850] Chr10:101008507..101008510 [GRCh38]
Chr10:102768264..102768267 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2846T>A (p.Val949Asp) single nucleotide variant not provided [RCV001989391] Chr10:101008723 [GRCh38]
Chr10:102768480 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2246A>T (p.Asn749Ile) single nucleotide variant not provided [RCV001900094] Chr10:101010643 [GRCh38]
Chr10:102770400 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2890C>G (p.Leu964Val) single nucleotide variant not provided [RCV002047849] Chr10:101008679 [GRCh38]
Chr10:102768436 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2705G>A (p.Ser902Asn) single nucleotide variant not provided [RCV002016669] Chr10:101009263 [GRCh38]
Chr10:102769020 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.494G>T (p.Arg165Leu) single nucleotide variant Inborn genetic diseases [RCV002573367]|not provided [RCV001977265] Chr10:101023484 [GRCh38]
Chr10:102783241 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1123G>A (p.Asp375Asn) single nucleotide variant not provided [RCV002016735] Chr10:101019023 [GRCh38]
Chr10:102778780 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1132_1134del (p.Gly378del) deletion not provided [RCV002028111] Chr10:101019012..101019014 [GRCh38]
Chr10:102778769..102778771 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.91C>A (p.Leu31Ile) single nucleotide variant not provided [RCV001882148] Chr10:101030129 [GRCh38]
Chr10:102789886 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.227-14C>A single nucleotide variant not provided [RCV001976464] Chr10:101024082 [GRCh38]
Chr10:102783839 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2273G>A (p.Arg758Gln) single nucleotide variant not provided [RCV001981753] Chr10:101010616 [GRCh38]
Chr10:102770373 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2006-1G>A single nucleotide variant not provided [RCV001999509] Chr10:101010884 [GRCh38]
Chr10:102770641 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.1573+4A>T single nucleotide variant not provided [RCV001991265] Chr10:101016373 [GRCh38]
Chr10:102776130 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1693G>T (p.Ala565Ser) single nucleotide variant not provided [RCV001937177] Chr10:101015692 [GRCh38]
Chr10:102775449 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.581G>A (p.Cys194Tyr) single nucleotide variant not provided [RCV001981866] Chr10:101022347 [GRCh38]
Chr10:102782104 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1811C>A (p.Pro604Gln) single nucleotide variant not provided [RCV002019548] Chr10:101012197 [GRCh38]
Chr10:102771954 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2319TAGCCGCAGCCG[3] (p.773RS[8]) microsatellite not provided [RCV001940423] Chr10:101010546..101010547 [GRCh38]
Chr10:102770303..102770304 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1936C>T (p.Arg646Trp) single nucleotide variant Inborn genetic diseases [RCV002548005]|not provided [RCV001907106] Chr10:101011759 [GRCh38]
Chr10:102771516 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2762A>G (p.Gln921Arg) single nucleotide variant not provided [RCV001994217] Chr10:101008807 [GRCh38]
Chr10:102768564 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1529dup (p.Val511fs) duplication not provided [RCV001958722] Chr10:101016420..101016421 [GRCh38]
Chr10:102776177..102776178 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1222del (p.Asp409fs) deletion not provided [RCV001960568] Chr10:101018924 [GRCh38]
Chr10:102778681 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2440A>T (p.Lys814Ter) single nucleotide variant not provided [RCV001958118] Chr10:101010449 [GRCh38]
Chr10:102770206 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.323G>T (p.Gly108Val) single nucleotide variant not provided [RCV002035850] Chr10:101023972 [GRCh38]
Chr10:102783729 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3091C>T (p.Arg1031Cys) single nucleotide variant not provided [RCV002012475] Chr10:101008478 [GRCh38]
Chr10:102768235 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2332_2352AGCCGC[4]AGCCGTAGCCGCAGCCGCAGCCGCAGCCGCAGC[1] (p.773RS[12]) microsatellite not provided [RCV002051365] Chr10:101010536..101010537 [GRCh38]
Chr10:102770293..102770294 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.607T>A (p.Ser203Thr) single nucleotide variant not provided [RCV001926042] Chr10:101022321 [GRCh38]
Chr10:102782078 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2240G>A (p.Arg747Gln) single nucleotide variant not provided [RCV001870065] Chr10:101010649 [GRCh38]
Chr10:102770406 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2998C>G (p.Pro1000Ala) single nucleotide variant not provided [RCV002046416] Chr10:101008571 [GRCh38]
Chr10:102768328 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2725T>C (p.Phe909Leu) single nucleotide variant not provided [RCV002018688] Chr10:101008844 [GRCh38]
Chr10:102768601 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.5C>A (p.Ala2Glu) single nucleotide variant not provided [RCV002049077] Chr10:101030215 [GRCh38]
Chr10:102789972 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.720-17C>A single nucleotide variant not provided [RCV001952804] Chr10:101021962 [GRCh38]
Chr10:102781719 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.510G>A (p.Pro170=) single nucleotide variant not provided [RCV002014073] Chr10:101023468 [GRCh38]
Chr10:102783225 [GRCh37]
Chr10:10q24.31
likely benign|uncertain significance
NM_001195263.2(PDZD7):c.2323C>T (p.Arg775Cys) single nucleotide variant not provided [RCV002031600] Chr10:101010566 [GRCh38]
Chr10:102770323 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.929-2A>G single nucleotide variant not provided [RCV002030558] Chr10:101019219 [GRCh38]
Chr10:102778976 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.2794C>T (p.Arg932Cys) single nucleotide variant not provided [RCV002015114] Chr10:101008775 [GRCh38]
Chr10:102768532 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2879A>C (p.Asp960Ala) single nucleotide variant not provided [RCV002029564] Chr10:101008690 [GRCh38]
Chr10:102768447 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2354G>A (p.Ser785Asn) single nucleotide variant not provided [RCV002027775] Chr10:101010535 [GRCh38]
Chr10:102770292 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2182del (p.Leu728fs) deletion not provided [RCV001993290] Chr10:101010707 [GRCh38]
Chr10:102770464 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.509C>T (p.Pro170Leu) single nucleotide variant not provided [RCV001916499] Chr10:101023469 [GRCh38]
Chr10:102783226 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.272A>G (p.Lys91Arg) single nucleotide variant not provided [RCV002046818] Chr10:101024023 [GRCh38]
Chr10:102783780 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2147C>T (p.Pro716Leu) single nucleotide variant not provided [RCV002018262] Chr10:101010742 [GRCh38]
Chr10:102770499 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1736G>A (p.Arg579His) single nucleotide variant not provided [RCV001938215] Chr10:101015649 [GRCh38]
Chr10:102775406 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1208A>G (p.His403Arg) single nucleotide variant not provided [RCV002018854] Chr10:101018938 [GRCh38]
Chr10:102778695 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2776C>T (p.Arg926Cys) single nucleotide variant not provided [RCV002036358] Chr10:101008793 [GRCh38]
Chr10:102768550 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2396C>T (p.Pro799Leu) single nucleotide variant not provided [RCV002018300] Chr10:101010493 [GRCh38]
Chr10:102770250 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2780C>T (p.Ala927Val) single nucleotide variant not provided [RCV001973774] Chr10:101008789 [GRCh38]
Chr10:102768546 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1747C>T (p.Arg583Trp) single nucleotide variant not provided [RCV001934779] Chr10:101015638 [GRCh38]
Chr10:102775395 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2092_2094del (p.Leu698del) deletion not provided [RCV002010620] Chr10:101010795..101010797 [GRCh38]
Chr10:102770552..102770554 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.928+1G>A single nucleotide variant Hearing loss, autosomal recessive 57 [RCV003155458]|not provided [RCV002010510] Chr10:101020617 [GRCh38]
Chr10:102780374 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.2017G>C (p.Gly673Arg) single nucleotide variant not provided [RCV001958055] Chr10:101010872 [GRCh38]
Chr10:102770629 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1588C>G (p.Arg530Gly) single nucleotide variant not provided [RCV001917033] Chr10:101015797 [GRCh38]
Chr10:102775554 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2795G>A (p.Arg932His) single nucleotide variant not provided [RCV001976610] Chr10:101008774 [GRCh38]
Chr10:102768531 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1100del (p.Asp367fs) deletion not provided [RCV001994634] Chr10:101019046 [GRCh38]
Chr10:102778803 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2798G>C (p.Arg933Pro) single nucleotide variant not provided [RCV002011013] Chr10:101008771 [GRCh38]
Chr10:102768528 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3014_3015insACTCCTCCCTCTGATGCCAG (p.Gln1008fs) insertion not provided [RCV002011914] Chr10:101008554..101008555 [GRCh38]
Chr10:102768311..102768312 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.584G>A (p.Gly195Asp) single nucleotide variant not provided [RCV001902045] Chr10:101022344 [GRCh38]
Chr10:102782101 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2272C>T (p.Arg758Ter) single nucleotide variant not provided [RCV001993129] Chr10:101010617 [GRCh38]
Chr10:102770374 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.222C>G (p.Ile74Met) single nucleotide variant not provided [RCV001921889] Chr10:101029998 [GRCh38]
Chr10:102789755 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.440_454del (p.Gly147_Lys151del) deletion not provided [RCV001996437] Chr10:101023524..101023538 [GRCh38]
Chr10:102783281..102783295 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1516G>C (p.Glu506Gln) single nucleotide variant not provided [RCV001876993] Chr10:101018105 [GRCh38]
Chr10:102777862 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.176G>A (p.Arg59Gln) single nucleotide variant not provided [RCV001952604] Chr10:101030044 [GRCh38]
Chr10:102789801 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2611T>A (p.Ser871Thr) single nucleotide variant not provided [RCV001866842] Chr10:101010278 [GRCh38]
Chr10:102770035 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.257C>T (p.Ser86Leu) single nucleotide variant Usher syndrome type 2C [RCV002497945]|not provided [RCV001994227] Chr10:101024038 [GRCh38]
Chr10:102783795 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1885G>A (p.Val629Met) single nucleotide variant not provided [RCV002033884] Chr10:101011973 [GRCh38]
Chr10:102771730 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1215C>T (p.Gly405=) single nucleotide variant not provided [RCV002092415] Chr10:101018931 [GRCh38]
Chr10:102778688 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1581G>A (p.Glu527=) single nucleotide variant not provided [RCV002188644] Chr10:101015804 [GRCh38]
Chr10:102775561 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1854C>T (p.Ala618=) single nucleotide variant not provided [RCV002187797] Chr10:101012004 [GRCh38]
Chr10:102771761 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.627C>A (p.Arg209=) single nucleotide variant not provided [RCV002189443] Chr10:101022301 [GRCh38]
Chr10:102782058 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.198C>A (p.Arg66=) single nucleotide variant not provided [RCV002205866] Chr10:101030022 [GRCh38]
Chr10:102789779 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.630C>T (p.Ile210=) single nucleotide variant not provided [RCV002125692] Chr10:101022298 [GRCh38]
Chr10:102782055 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1324+11G>C single nucleotide variant not provided [RCV002145610] Chr10:101018811 [GRCh38]
Chr10:102778568 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2652G>A (p.Val884=) single nucleotide variant not provided [RCV002124336] Chr10:101009316 [GRCh38]
Chr10:102769073 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1324+20C>T single nucleotide variant not provided [RCV002089794] Chr10:101018802 [GRCh38]
Chr10:102778559 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.825G>A (p.Val275=) single nucleotide variant not provided [RCV002147665] Chr10:101021840 [GRCh38]
Chr10:102781597 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1392C>T (p.Ser464=) single nucleotide variant not provided [RCV002170321] Chr10:101018229 [GRCh38]
Chr10:102777986 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1749+12T>A single nucleotide variant not provided [RCV002209792] Chr10:101015624 [GRCh38]
Chr10:102775381 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1722G>A (p.Val574=) single nucleotide variant not provided [RCV002072656] Chr10:101015663 [GRCh38]
Chr10:102775420 [GRCh37]
Chr10:10q24.31
likely benign|conflicting interpretations of pathogenicity
NM_001195263.2(PDZD7):c.543-18C>T single nucleotide variant not provided [RCV002169031] Chr10:101022403 [GRCh38]
Chr10:102782160 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1841+19G>C single nucleotide variant not provided [RCV002169080] Chr10:101012148 [GRCh38]
Chr10:102771905 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.801C>T (p.Asp267=) single nucleotide variant not provided [RCV002104889] Chr10:101021864 [GRCh38]
Chr10:102781621 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2070G>A (p.Glu690=) single nucleotide variant not provided [RCV002076018] Chr10:101010819 [GRCh38]
Chr10:102770576 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1329G>A (p.Glu443=) single nucleotide variant not provided [RCV002190960] Chr10:101018292 [GRCh38]
Chr10:102778049 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.744G>A (p.Glu248=) single nucleotide variant not provided [RCV002111177] Chr10:101021921 [GRCh38]
Chr10:102781678 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.768C>T (p.Asp256=) single nucleotide variant not provided [RCV002126205] Chr10:101021897 [GRCh38]
Chr10:102781654 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.3030T>G (p.Thr1010=) single nucleotide variant not provided [RCV002089799] Chr10:101008539 [GRCh38]
Chr10:102768296 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1929G>A (p.Arg643=) single nucleotide variant not provided [RCV002126796] Chr10:101011929 [GRCh38]
Chr10:102771686 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.741C>T (p.Ala247=) single nucleotide variant not provided [RCV002169290] Chr10:101021924 [GRCh38]
Chr10:102781681 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2853G>A (p.Gly951=) single nucleotide variant not provided [RCV002092262] Chr10:101008716 [GRCh38]
Chr10:102768473 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1933+14G>C single nucleotide variant not provided [RCV002185811] Chr10:101011911 [GRCh38]
Chr10:102771668 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2841C>T (p.Val947=) single nucleotide variant not provided [RCV002212481] Chr10:101008728 [GRCh38]
Chr10:102768485 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1573+12A>G single nucleotide variant not provided [RCV002212619] Chr10:101016365 [GRCh38]
Chr10:102776122 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.363T>C (p.Ser121=) single nucleotide variant not provided [RCV002147678] Chr10:101023932 [GRCh38]
Chr10:102783689 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1325-16T>A single nucleotide variant not provided [RCV002134459] Chr10:101018312 [GRCh38]
Chr10:102778069 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.660C>T (p.Phe220=) single nucleotide variant not provided [RCV002196819] Chr10:101022268 [GRCh38]
Chr10:102782025 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2691G>A (p.Gly897=) single nucleotide variant not provided [RCV002113285] Chr10:101009277 [GRCh38]
Chr10:102769034 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1324+11del deletion not provided [RCV002194079] Chr10:101018811 [GRCh38]
Chr10:102778568 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.543-15C>T single nucleotide variant not provided [RCV002195190] Chr10:101022400 [GRCh38]
Chr10:102782157 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1716C>T (p.Asp572=) single nucleotide variant not provided [RCV002130928] Chr10:101015669 [GRCh38]
Chr10:102775426 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.543-14del deletion not provided [RCV002113787] Chr10:101022399 [GRCh38]
Chr10:102782156 [GRCh37]
Chr10:10q24.31
benign
NM_001195263.2(PDZD7):c.2847C>A (p.Val949=) single nucleotide variant not provided [RCV002148799] Chr10:101008722 [GRCh38]
Chr10:102768479 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2904C>A (p.Gly968=) single nucleotide variant not provided [RCV002081078] Chr10:101008665 [GRCh38]
Chr10:102768422 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1206C>G (p.Pro402=) single nucleotide variant not provided [RCV002092450] Chr10:101018940 [GRCh38]
Chr10:102778697 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.693G>A (p.Glu231=) single nucleotide variant not provided [RCV002171474] Chr10:101022235 [GRCh38]
Chr10:102781992 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.719+7G>A single nucleotide variant not provided [RCV002212568] Chr10:101022202 [GRCh38]
Chr10:102781959 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2618-20G>A single nucleotide variant not provided [RCV002196616] Chr10:101009370 [GRCh38]
Chr10:102769127 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.368-8T>C single nucleotide variant not provided [RCV002078867] Chr10:101023618 [GRCh38]
Chr10:102783375 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1131A>G (p.Gly377=) single nucleotide variant not provided [RCV002133249] Chr10:101019015 [GRCh38]
Chr10:102778772 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.60C>G (p.Gly20=) single nucleotide variant not provided [RCV002187457] Chr10:101030160 [GRCh38]
Chr10:102789917 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1574-20del deletion not provided [RCV002071514] Chr10:101015831 [GRCh38]
Chr10:102775588 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.198C>T (p.Arg66=) single nucleotide variant not provided [RCV002132732] Chr10:101030022 [GRCh38]
Chr10:102789779 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2220C>T (p.Pro740=) single nucleotide variant not provided [RCV002174475] Chr10:101010669 [GRCh38]
Chr10:102770426 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.227-20C>T single nucleotide variant not provided [RCV002134535] Chr10:101024088 [GRCh38]
Chr10:102783845 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.732T>A (p.Gly244=) single nucleotide variant not provided [RCV002196848] Chr10:101021933 [GRCh38]
Chr10:102781690 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2502G>A (p.Gly834=) single nucleotide variant not provided [RCV002210457] Chr10:101010387 [GRCh38]
Chr10:102770144 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.834G>T (p.Leu278=) single nucleotide variant not provided [RCV002193700] Chr10:101021831 [GRCh38]
Chr10:102781588 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1368G>C (p.Gly456=) single nucleotide variant not provided [RCV002196994] Chr10:101018253 [GRCh38]
Chr10:102778010 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1522+19A>G single nucleotide variant not provided [RCV002089242] Chr10:101018080 [GRCh38]
Chr10:102777837 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.528G>A (p.Lys176=) single nucleotide variant not provided [RCV002194102] Chr10:101023450 [GRCh38]
Chr10:102783207 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.543-12G>A single nucleotide variant not provided [RCV002138753] Chr10:101022397 [GRCh38]
Chr10:102782154 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.732T>G (p.Gly244=) single nucleotide variant not provided [RCV002216626] Chr10:101021933 [GRCh38]
Chr10:102781690 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1842-14T>C single nucleotide variant not provided [RCV002121684] Chr10:101012030 [GRCh38]
Chr10:102771787 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.226+8C>A single nucleotide variant not provided [RCV002156191] Chr10:101029986 [GRCh38]
Chr10:102789743 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.867+18G>C single nucleotide variant not provided [RCV002156420] Chr10:101021780 [GRCh38]
Chr10:102781537 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2719-4C>G single nucleotide variant not provided [RCV002141704] Chr10:101008854 [GRCh38]
Chr10:102768611 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1116G>C (p.Thr372=) single nucleotide variant not provided [RCV002204358] Chr10:101019030 [GRCh38]
Chr10:102778787 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.780A>G (p.Ala260=) single nucleotide variant not provided [RCV002182067] Chr10:101021885 [GRCh38]
Chr10:102781642 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.714G>A (p.Val238=) single nucleotide variant not provided [RCV002217631] Chr10:101022214 [GRCh38]
Chr10:102781971 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2617+11G>T single nucleotide variant not provided [RCV002219555] Chr10:101010261 [GRCh38]
Chr10:102770018 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.333C>T (p.Ile111=) single nucleotide variant not provided [RCV002144294] Chr10:101023962 [GRCh38]
Chr10:102783719 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2781A>G (p.Ala927=) single nucleotide variant not provided [RCV002159820] Chr10:101008788 [GRCh38]
Chr10:102768545 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1641G>C (p.Val547=) single nucleotide variant not provided [RCV002184786] Chr10:101015744 [GRCh38]
Chr10:102775501 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1998C>T (p.Pro666=) single nucleotide variant not provided [RCV002160142] Chr10:101011697 [GRCh38]
Chr10:102771454 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.929-12T>C single nucleotide variant not provided [RCV002181892] Chr10:101019229 [GRCh38]
Chr10:102778986 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.897G>A (p.Glu299=) single nucleotide variant not provided [RCV002176157] Chr10:101020649 [GRCh38]
Chr10:102780406 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2397G>T (p.Pro799=) single nucleotide variant not provided [RCV002156755] Chr10:101010492 [GRCh38]
Chr10:102770249 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1398G>A (p.Thr466=) single nucleotide variant not provided [RCV002158768] Chr10:101018223 [GRCh38]
Chr10:102777980 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1842-13C>T single nucleotide variant not provided [RCV002143666] Chr10:101012029 [GRCh38]
Chr10:102771786 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2718+10G>A single nucleotide variant not provided [RCV002164083] Chr10:101009240 [GRCh38]
Chr10:102768997 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.60C>T (p.Gly20=) single nucleotide variant not provided [RCV002200839] Chr10:101030160 [GRCh38]
Chr10:102789917 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.18A>G (p.Ala6=) single nucleotide variant not provided [RCV002164566] Chr10:101030202 [GRCh38]
Chr10:102789959 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.105A>T (p.Ser35=) single nucleotide variant not provided [RCV002177017] Chr10:101030115 [GRCh38]
Chr10:102789872 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.954G>A (p.Leu318=) single nucleotide variant not provided [RCV002179197] Chr10:101019192 [GRCh38]
Chr10:102778949 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.867+11C>T single nucleotide variant not provided [RCV002161478] Chr10:101021787 [GRCh38]
Chr10:102781544 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.213C>T (p.Asn71=) single nucleotide variant not provided [RCV002139540] Chr10:101030007 [GRCh38]
Chr10:102789764 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.227-20C>G single nucleotide variant not provided [RCV002182891] Chr10:101024088 [GRCh38]
Chr10:102783845 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1290C>A (p.Pro430=) single nucleotide variant not provided [RCV002141327] Chr10:101018856 [GRCh38]
Chr10:102778613 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.651C>T (p.Ser217=) single nucleotide variant not provided [RCV002203309] Chr10:101022277 [GRCh38]
Chr10:102782034 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1749+19C>T single nucleotide variant not provided [RCV002140810] Chr10:101015617 [GRCh38]
Chr10:102775374 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1749+19C>G single nucleotide variant not provided [RCV002161646] Chr10:101015617 [GRCh38]
Chr10:102775374 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1401G>A (p.Leu467=) single nucleotide variant not provided [RCV002179425] Chr10:101018220 [GRCh38]
Chr10:102777977 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.321T>C (p.His107=) single nucleotide variant not provided [RCV002143137] Chr10:101023974 [GRCh38]
Chr10:102783731 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2916C>T (p.Asp972=) single nucleotide variant not provided [RCV002199828] Chr10:101008653 [GRCh38]
Chr10:102768410 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.471C>T (p.Ser157=) single nucleotide variant not provided [RCV002100348] Chr10:101023507 [GRCh38]
Chr10:102783264 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2460C>T (p.Pro820=) single nucleotide variant not provided [RCV002200259] Chr10:101010429 [GRCh38]
Chr10:102770186 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1302C>T (p.Ser434=) single nucleotide variant not provided [RCV002179779] Chr10:101018844 [GRCh38]
Chr10:102778601 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.597C>T (p.Ser199=) single nucleotide variant not provided [RCV002184035] Chr10:101022331 [GRCh38]
Chr10:102782088 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2617+16A>C single nucleotide variant not provided [RCV002217855] Chr10:101010256 [GRCh38]
Chr10:102770013 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.370C>A (p.Arg124=) single nucleotide variant not provided [RCV002160999] Chr10:101023608 [GRCh38]
Chr10:102783365 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.543-17C>G single nucleotide variant not provided [RCV002201421] Chr10:101022402 [GRCh38]
Chr10:102782159 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.385G>A (p.Val129Met) single nucleotide variant not provided [RCV003117229] Chr10:101023593 [GRCh38]
Chr10:102783350 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1739A>C (p.His580Pro) single nucleotide variant not provided [RCV002265392] Chr10:101015646 [GRCh38]
Chr10:102775403 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.769C>A (p.Gln257Lys) single nucleotide variant not provided [RCV002279091] Chr10:101021896 [GRCh38]
Chr10:102781653 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2237T>A (p.Leu746Gln) single nucleotide variant not provided [RCV002274760] Chr10:101010652 [GRCh38]
Chr10:102770409 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2068G>A (p.Glu690Lys) single nucleotide variant not provided [RCV002274642] Chr10:101010821 [GRCh38]
Chr10:102770578 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2012G>T (p.Arg671Leu) single nucleotide variant not provided [RCV002297078] Chr10:101010877 [GRCh38]
Chr10:102770634 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1340G>A (p.Arg447Gln) single nucleotide variant not provided [RCV002297367] Chr10:101018281 [GRCh38]
Chr10:102778038 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.215C>T (p.Ser72Phe) single nucleotide variant not provided [RCV002303441] Chr10:101030005 [GRCh38]
Chr10:102789762 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.565C>T (p.Leu189=) single nucleotide variant not provided [RCV002474035] Chr10:101022363 [GRCh38]
Chr10:102782120 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.668del (p.Gly223fs) deletion Hearing loss, autosomal recessive 57 [RCV002470580] Chr10:101022260 [GRCh38]
Chr10:102782017 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.90C>G (p.His30Gln) single nucleotide variant not provided [RCV002303592] Chr10:101030130 [GRCh38]
Chr10:102789887 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.71C>T (p.Ser24Phe) single nucleotide variant not provided [RCV002301390] Chr10:101030149 [GRCh38]
Chr10:102789906 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3062C>T (p.Thr1021Ile) single nucleotide variant not provided [RCV002300920] Chr10:101008507 [GRCh38]
Chr10:102768264 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.190A>C (p.Met64Leu) single nucleotide variant not provided [RCV002295572] Chr10:101030030 [GRCh38]
Chr10:102789787 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3083C>A (p.Pro1028His) single nucleotide variant not provided [RCV002299102] Chr10:101008486 [GRCh38]
Chr10:102768243 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2864G>A (p.Arg955Gln) single nucleotide variant not provided [RCV002614473] Chr10:101008705 [GRCh38]
Chr10:102768462 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2719-10C>T single nucleotide variant not provided [RCV002731210] Chr10:101008860 [GRCh38]
Chr10:102768617 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.928+21A>T single nucleotide variant not provided [RCV002816335] Chr10:101020597 [GRCh38]
Chr10:102780354 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.983_1003dup (p.Ser334_Ala335insValSerSerCysAlaSerSer) duplication not provided [RCV002771623] Chr10:101019142..101019143 [GRCh38]
Chr10:102778899..102778900 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.166C>T (p.Arg56Cys) single nucleotide variant not provided [RCV002730964] Chr10:101030054 [GRCh38]
Chr10:102789811 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.385G>T (p.Val129Leu) single nucleotide variant not provided [RCV002614830] Chr10:101023593 [GRCh38]
Chr10:102783350 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.82del (p.Arg28fs) deletion not provided [RCV002815719] Chr10:101030138 [GRCh38]
Chr10:102789895 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2030T>C (p.Leu677Pro) single nucleotide variant not provided [RCV002838555] Chr10:101010859 [GRCh38]
Chr10:102770616 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1749+10C>G single nucleotide variant not provided [RCV002880542] Chr10:101015626 [GRCh38]
Chr10:102775383 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.606C>T (p.Ser202=) single nucleotide variant not provided [RCV002862055] Chr10:101022322 [GRCh38]
Chr10:102782079 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.439G>A (p.Gly147Ser) single nucleotide variant not provided [RCV002731409] Chr10:101023539 [GRCh38]
Chr10:102783296 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.227-13C>G single nucleotide variant not provided [RCV002686069] Chr10:101024081 [GRCh38]
Chr10:102783838 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2480A>T (p.Asp827Val) single nucleotide variant Inborn genetic diseases [RCV002733081] Chr10:101010409 [GRCh38]
Chr10:102770166 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.929-8C>T single nucleotide variant not provided [RCV002618919] Chr10:101019225 [GRCh38]
Chr10:102778982 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2460C>A (p.Pro820=) single nucleotide variant not provided [RCV002866115] Chr10:101010429 [GRCh38]
Chr10:102770186 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.15C>T (p.Phe5=) single nucleotide variant not provided [RCV002755232] Chr10:101030205 [GRCh38]
Chr10:102789962 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2827A>G (p.Met943Val) single nucleotide variant not provided [RCV003017753] Chr10:101008742 [GRCh38]
Chr10:102768499 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1285C>T (p.Pro429Ser) single nucleotide variant not provided [RCV002636235] Chr10:101018861 [GRCh38]
Chr10:102778618 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.178G>C (p.Ala60Pro) single nucleotide variant Inborn genetic diseases [RCV002882684] Chr10:101030042 [GRCh38]
Chr10:102789799 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2415del (p.Ser806fs) deletion not provided [RCV003034574] Chr10:101010474 [GRCh38]
Chr10:102770231 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2728G>A (p.Glu910Lys) single nucleotide variant not provided [RCV003099037] Chr10:101008841 [GRCh38]
Chr10:102768598 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.169G>A (p.Gly57Arg) single nucleotide variant not provided [RCV002863216] Chr10:101030051 [GRCh38]
Chr10:102789808 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1656G>A (p.Gln552=) single nucleotide variant not provided [RCV002839551] Chr10:101015729 [GRCh38]
Chr10:102775486 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2591C>T (p.Thr864Ile) single nucleotide variant not provided [RCV003017383] Chr10:101010298 [GRCh38]
Chr10:102770055 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2248T>C (p.Trp750Arg) single nucleotide variant not provided [RCV002690355] Chr10:101010641 [GRCh38]
Chr10:102770398 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.615T>C (p.Asp205=) single nucleotide variant not provided [RCV002880452] Chr10:101022313 [GRCh38]
Chr10:102782070 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2192C>T (p.Ala731Val) single nucleotide variant not provided [RCV002751298] Chr10:101010697 [GRCh38]
Chr10:102770454 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2133del (p.His711fs) deletion not provided [RCV003013959] Chr10:101010756 [GRCh38]
Chr10:102770513 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.736C>T (p.Leu246=) single nucleotide variant not provided [RCV003074580] Chr10:101021929 [GRCh38]
Chr10:102781686 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.117_121del (p.Thr40fs) deletion not provided [RCV002755189] Chr10:101030099..101030103 [GRCh38]
Chr10:102789856..102789860 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2224G>A (p.Ala742Thr) single nucleotide variant not provided [RCV003073872] Chr10:101010665 [GRCh38]
Chr10:102770422 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1574-5T>A single nucleotide variant not provided [RCV002839336] Chr10:101015816 [GRCh38]
Chr10:102775573 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.875G>A (p.Gly292Asp) single nucleotide variant not provided [RCV002838478] Chr10:101020671 [GRCh38]
Chr10:102780428 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2028G>C (p.Leu676=) single nucleotide variant not provided [RCV002726185] Chr10:101010861 [GRCh38]
Chr10:102770618 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2928_2945del (p.His977_Ala982del) deletion not provided [RCV002972271] Chr10:101008624..101008641 [GRCh38]
Chr10:102768381..102768398 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2772C>A (p.His924Gln) single nucleotide variant not provided [RCV002730159] Chr10:101008797 [GRCh38]
Chr10:102768554 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.23G>A (p.Gly8Asp) single nucleotide variant not provided [RCV002819578] Chr10:101030197 [GRCh38]
Chr10:102789954 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.822C>T (p.Ala274=) single nucleotide variant not provided [RCV002618075] Chr10:101021843 [GRCh38]
Chr10:102781600 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.3021C>T (p.Leu1007=) single nucleotide variant not provided [RCV002750660] Chr10:101008548 [GRCh38]
Chr10:102768305 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1697A>G (p.Gln566Arg) single nucleotide variant not provided [RCV003034318] Chr10:101015688 [GRCh38]
Chr10:102775445 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.928+14A>T single nucleotide variant not provided [RCV003013982] Chr10:101020604 [GRCh38]
Chr10:102780361 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.961G>A (p.Ala321Thr) single nucleotide variant not provided [RCV002613706] Chr10:101019185 [GRCh38]
Chr10:102778942 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1372A>G (p.Lys458Glu) single nucleotide variant Inborn genetic diseases [RCV002777881] Chr10:101018249 [GRCh38]
Chr10:102778006 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2459C>G (p.Pro820Arg) single nucleotide variant not provided [RCV003076153] Chr10:101010430 [GRCh38]
Chr10:102770187 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2618-10_2618-9del deletion not provided [RCV002991390] Chr10:101009359..101009360 [GRCh38]
Chr10:102769116..102769117 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1036C>A (p.Arg346Ser) single nucleotide variant not provided [RCV003038773] Chr10:101019110 [GRCh38]
Chr10:102778867 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1128G>A (p.Ala376=) single nucleotide variant not provided [RCV003022057] Chr10:101019018 [GRCh38]
Chr10:102778775 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2431C>G (p.Arg811Gly) single nucleotide variant not provided [RCV003039239] Chr10:101010458 [GRCh38]
Chr10:102770215 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2436C>T (p.Tyr812=) single nucleotide variant not provided [RCV003021428] Chr10:101010453 [GRCh38]
Chr10:102770210 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2888C>G (p.Ala963Gly) single nucleotide variant not provided [RCV003021748] Chr10:101008681 [GRCh38]
Chr10:102768438 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.883C>T (p.Pro295Ser) single nucleotide variant not provided [RCV003003184] Chr10:101020663 [GRCh38]
Chr10:102780420 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.979A>G (p.Ser327Gly) single nucleotide variant not provided [RCV002761252] Chr10:101019167 [GRCh38]
Chr10:102778924 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2992_2993del (p.Gln998fs) deletion not provided [RCV002821023] Chr10:101008576..101008577 [GRCh38]
Chr10:102768333..102768334 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2082del (p.Leu695fs) deletion not provided [RCV002867571] Chr10:101010807 [GRCh38]
Chr10:102770564 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2847C>T (p.Val949=) single nucleotide variant not provided [RCV002847633] Chr10:101008722 [GRCh38]
Chr10:102768479 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2991C>A (p.Pro997=) single nucleotide variant not provided [RCV002871198] Chr10:101008578 [GRCh38]
Chr10:102768335 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1937G>A (p.Arg646Gln) single nucleotide variant not provided [RCV002591033] Chr10:101011758 [GRCh38]
Chr10:102771515 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1684C>T (p.Gln562Ter) single nucleotide variant not provided [RCV003018138] Chr10:101015701 [GRCh38]
Chr10:102775458 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2202C>G (p.Pro734=) single nucleotide variant not provided [RCV002639070] Chr10:101010687 [GRCh38]
Chr10:102770444 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.159G>T (p.Gly53=) single nucleotide variant not provided [RCV002620710] Chr10:101030061 [GRCh38]
Chr10:102789818 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.720-5C>T single nucleotide variant not provided [RCV002796701] Chr10:101021950 [GRCh38]
Chr10:102781707 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2968C>T (p.Leu990Phe) single nucleotide variant not provided [RCV002975740] Chr10:101008601 [GRCh38]
Chr10:102768358 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2818C>T (p.Arg940Trp) single nucleotide variant not provided [RCV002780253] Chr10:101008751 [GRCh38]
Chr10:102768508 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2158G>A (p.Val720Met) single nucleotide variant not provided [RCV002824644] Chr10:101010731 [GRCh38]
Chr10:102770488 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1914G>A (p.Glu638=) single nucleotide variant not provided [RCV002662652] Chr10:101011944 [GRCh38]
Chr10:102771701 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.166C>A (p.Arg56Ser) single nucleotide variant not provided [RCV002736587] Chr10:101030054 [GRCh38]
Chr10:102789811 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2480A>G (p.Asp827Gly) single nucleotide variant not provided [RCV002639196] Chr10:101010409 [GRCh38]
Chr10:102770166 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2099T>A (p.Val700Asp) single nucleotide variant not provided [RCV003021213] Chr10:101010790 [GRCh38]
Chr10:102770547 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1841+19G>T single nucleotide variant not provided [RCV002639947] Chr10:101012148 [GRCh38]
Chr10:102771905 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.381G>C (p.Leu127=) single nucleotide variant not provided [RCV002591251] Chr10:101023597 [GRCh38]
Chr10:102783354 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.28G>A (p.Asp10Asn) single nucleotide variant not provided [RCV002979634] Chr10:101030192 [GRCh38]
Chr10:102789949 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.204C>T (p.Ile68=) single nucleotide variant not provided [RCV002695724] Chr10:101030016 [GRCh38]
Chr10:102789773 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.930_949dup (p.Gln317fs) duplication not provided [RCV002796205] Chr10:101019196..101019197 [GRCh38]
Chr10:102778953..102778954 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.633C>T (p.Val211=) single nucleotide variant not provided [RCV002952646] Chr10:101022295 [GRCh38]
Chr10:102782052 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2178C>G (p.Thr726=) single nucleotide variant not provided [RCV002999848] Chr10:101010711 [GRCh38]
Chr10:102770468 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2082G>T (p.Arg694=) single nucleotide variant not provided [RCV002695870] Chr10:101010807 [GRCh38]
Chr10:102770564 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1749+17T>A single nucleotide variant not provided [RCV002999901] Chr10:101015619 [GRCh38]
Chr10:102775376 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2814G>A (p.Lys938=) single nucleotide variant not provided [RCV002796273] Chr10:101008755 [GRCh38]
Chr10:102768512 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1560G>T (p.Trp520Cys) single nucleotide variant not provided [RCV002639409] Chr10:101016390 [GRCh38]
Chr10:102776147 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2806C>G (p.Arg936Gly) single nucleotide variant not provided [RCV002691110] Chr10:101008763 [GRCh38]
Chr10:102768520 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2387C>A (p.Ser796Tyr) single nucleotide variant not provided [RCV002695188] Chr10:101010502 [GRCh38]
Chr10:102770259 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1341G>A (p.Arg447=) single nucleotide variant not provided [RCV002572871] Chr10:101018280 [GRCh38]
Chr10:102778037 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.583G>A (p.Gly195Ser) single nucleotide variant not provided [RCV002597240] Chr10:101022345 [GRCh38]
Chr10:102782102 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.175C>T (p.Arg59Ter) single nucleotide variant not provided [RCV003008293] Chr10:101030045 [GRCh38]
Chr10:102789802 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2305C>T (p.Arg769Trp) single nucleotide variant not provided [RCV002745725] Chr10:101010584 [GRCh38]
Chr10:102770341 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV002745277] Chr10:101023449 [GRCh38]
Chr10:102783206 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1699A>C (p.Arg567=) single nucleotide variant not provided [RCV002745254] Chr10:101015686 [GRCh38]
Chr10:102775443 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2181C>G (p.Pro727=) single nucleotide variant not provided [RCV002576301] Chr10:101010708 [GRCh38]
Chr10:102770465 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1324+10G>A single nucleotide variant not provided [RCV003043220] Chr10:101018812 [GRCh38]
Chr10:102778569 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2895T>C (p.Thr965=) single nucleotide variant not provided [RCV002597273] Chr10:101008674 [GRCh38]
Chr10:102768431 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1749+6C>T single nucleotide variant not provided [RCV003043249] Chr10:101015630 [GRCh38]
Chr10:102775387 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2034G>A (p.Pro678=) single nucleotide variant not provided [RCV002667253] Chr10:101010855 [GRCh38]
Chr10:102770612 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2209_2211delinsAA (p.Gln737fs) indel not provided [RCV002508874] Chr10:101010678..101010680 [GRCh38]
Chr10:102770435..102770437 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.543-18C>G single nucleotide variant not provided [RCV003041795] Chr10:101022403 [GRCh38]
Chr10:102782160 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1220G>A (p.Arg407His) single nucleotide variant not provided [RCV002625419] Chr10:101018926 [GRCh38]
Chr10:102778683 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2767A>G (p.Thr923Ala) single nucleotide variant not provided [RCV002741342] Chr10:101008802 [GRCh38]
Chr10:102768559 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.952C>T (p.Leu318=) single nucleotide variant not provided [RCV002850887] Chr10:101019194 [GRCh38]
Chr10:102778951 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.13T>A (p.Phe5Ile) single nucleotide variant not provided [RCV002801759] Chr10:101030207 [GRCh38]
Chr10:102789964 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1047C>T (p.Ile349=) single nucleotide variant not provided [RCV002957480] Chr10:101019099 [GRCh38]
Chr10:102778856 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1620C>T (p.Pro540=) single nucleotide variant not provided [RCV003022660] Chr10:101015765 [GRCh38]
Chr10:102775522 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.3097C>T (p.Pro1033Ser) single nucleotide variant not provided [RCV002872816] Chr10:101008472 [GRCh38]
Chr10:102768229 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2112C>T (p.Ala704=) single nucleotide variant not provided [RCV002801359] Chr10:101010777 [GRCh38]
Chr10:102770534 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2718+19G>T single nucleotide variant not provided [RCV002852111] Chr10:101009231 [GRCh38]
Chr10:102768988 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1842-5C>G single nucleotide variant not provided [RCV003024421] Chr10:101012021 [GRCh38]
Chr10:102771778 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2400G>A (p.Val800=) single nucleotide variant not provided [RCV002928743] Chr10:101010489 [GRCh38]
Chr10:102770246 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2900G>C (p.Gly967Ala) single nucleotide variant not provided [RCV002627074] Chr10:101008669 [GRCh38]
Chr10:102768426 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2331T>G (p.Arg777=) single nucleotide variant not provided [RCV002741116] Chr10:101010558 [GRCh38]
Chr10:102770315 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1777C>A (p.Leu593Met) single nucleotide variant not provided [RCV003056202] Chr10:101012231 [GRCh38]
Chr10:102771988 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1619C>T (p.Pro540Leu) single nucleotide variant Inborn genetic diseases [RCV002803061] Chr10:101015766 [GRCh38]
Chr10:102775523 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.20T>C (p.Val7Ala) single nucleotide variant not provided [RCV002917818] Chr10:101030200 [GRCh38]
Chr10:102789957 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.930G>A (p.Leu310=) single nucleotide variant not provided [RCV002700367] Chr10:101019216 [GRCh38]
Chr10:102778973 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1750-2A>G single nucleotide variant Hearing loss, autosomal recessive 57 [RCV003147814]|not provided [RCV003058264] Chr10:101012260 [GRCh38]
Chr10:102772017 [GRCh37]
Chr10:10q24.31
likely pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.1570C>A (p.Arg524Ser) single nucleotide variant not provided [RCV002918476] Chr10:101016380 [GRCh38]
Chr10:102776137 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.851T>A (p.Ile284Asn) single nucleotide variant not provided [RCV002710809] Chr10:101021814 [GRCh38]
Chr10:102781571 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1480G>A (p.Gly494Arg) single nucleotide variant not provided [RCV002740581] Chr10:101018141 [GRCh38]
Chr10:102777898 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1776C>G (p.Asp592Glu) single nucleotide variant Inborn genetic diseases [RCV002787022] Chr10:101012232 [GRCh38]
Chr10:102771989 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1749+16A>G single nucleotide variant not provided [RCV002745593] Chr10:101015620 [GRCh38]
Chr10:102775377 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.963C>G (p.Ala321=) single nucleotide variant not provided [RCV002575260] Chr10:101019183 [GRCh38]
Chr10:102778940 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2324G>A (p.Arg775His) single nucleotide variant not provided [RCV003085019] Chr10:101010565 [GRCh38]
Chr10:102770322 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1314G>A (p.Leu438=) single nucleotide variant not provided [RCV002893917] Chr10:101018832 [GRCh38]
Chr10:102778589 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.846G>A (p.Thr282=) single nucleotide variant not provided [RCV002596967] Chr10:101021819 [GRCh38]
Chr10:102781576 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.920T>C (p.Leu307Pro) single nucleotide variant not provided [RCV002625532] Chr10:101020626 [GRCh38]
Chr10:102780383 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1076_1078inv (p.Arg359_Gly360delinsProArg) inversion not provided [RCV002932353] Chr10:101019068..101019070 [GRCh38]
Chr10:102778825..102778827 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.873C>T (p.Thr291=) single nucleotide variant not provided [RCV002572996] Chr10:101020673 [GRCh38]
Chr10:102780430 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1033G>T (p.Asp345Tyr) single nucleotide variant not provided [RCV003025100] Chr10:101019113 [GRCh38]
Chr10:102778870 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1324+16G>A single nucleotide variant not provided [RCV002828836] Chr10:101018806 [GRCh38]
Chr10:102778563 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.880T>C (p.Tyr294His) single nucleotide variant not provided [RCV003042829] Chr10:101020666 [GRCh38]
Chr10:102780423 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2456G>C (p.Arg819Thr) single nucleotide variant not provided [RCV003040134] Chr10:101010433 [GRCh38]
Chr10:102770190 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1842G>A (p.Arg614=) single nucleotide variant not provided [RCV003030779] Chr10:101012016 [GRCh38]
Chr10:102771773 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.867+17G>A single nucleotide variant not provided [RCV002720122] Chr10:101021781 [GRCh38]
Chr10:102781538 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2618-17T>C single nucleotide variant not provided [RCV003030938] Chr10:101009367 [GRCh38]
Chr10:102769124 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2006-18C>G single nucleotide variant not provided [RCV002715104] Chr10:101010901 [GRCh38]
Chr10:102770658 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1054G>C (p.Gly352Arg) single nucleotide variant not provided [RCV002676598] Chr10:101019092 [GRCh38]
Chr10:102778849 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2892T>A (p.Leu964=) single nucleotide variant not provided [RCV002962428] Chr10:101008677 [GRCh38]
Chr10:102768434 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2426A>G (p.Asn809Ser) single nucleotide variant not provided [RCV002602675] Chr10:101010463 [GRCh38]
Chr10:102770220 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2618-5A>G single nucleotide variant not provided [RCV003065881] Chr10:101009355 [GRCh38]
Chr10:102769112 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2319_2324del (p.773RS[5]) deletion not provided [RCV002720749] Chr10:101010565..101010570 [GRCh38]
Chr10:102770322..102770327 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2751_2752del (p.Asn918fs) microsatellite not provided [RCV002791756] Chr10:101008817..101008818 [GRCh38]
Chr10:102768574..102768575 [GRCh37]
Chr10:10q24.31
pathogenic|uncertain significance
NM_001195263.2(PDZD7):c.2152C>T (p.Gln718Ter) single nucleotide variant not provided [RCV002671045] Chr10:101010737 [GRCh38]
Chr10:102770494 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2807G>A (p.Arg936Gln) single nucleotide variant not provided [RCV002630562] Chr10:101008762 [GRCh38]
Chr10:102768519 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.625C>T (p.Arg209Cys) single nucleotide variant not provided [RCV002646867] Chr10:101022303 [GRCh38]
Chr10:102782060 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1694C>T (p.Ala565Val) single nucleotide variant not provided [RCV002716740] Chr10:101015691 [GRCh38]
Chr10:102775448 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2048C>T (p.Pro683Leu) single nucleotide variant not provided [RCV002672094] Chr10:101010841 [GRCh38]
Chr10:102770598 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1420_1522+812delinsA indel not provided [RCV002857626] Chr10:101017287..101018201 [GRCh38]
Chr10:102777044..102777958 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.2620A>G (p.Ile874Val) single nucleotide variant not provided [RCV002715183] Chr10:101009348 [GRCh38]
Chr10:102769105 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1237T>G (p.Ser413Ala) single nucleotide variant not provided [RCV002810455] Chr10:101018909 [GRCh38]
Chr10:102778666 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.582C>A (p.Cys194Ter) single nucleotide variant not provided [RCV002649626] Chr10:101022346 [GRCh38]
Chr10:102782103 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV003044782] Chr10:101018159 [GRCh38]
Chr10:102777916 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2794_2806del (p.Arg932fs) deletion not provided [RCV002811864] Chr10:101008763..101008775 [GRCh38]
Chr10:102768520..102768532 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2098G>T (p.Val700Phe) single nucleotide variant not provided [RCV002598434] Chr10:101010791 [GRCh38]
Chr10:102770548 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2618-12_2618-9del deletion not provided [RCV002601106] Chr10:101009359..101009362 [GRCh38]
Chr10:102769116..102769119 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1056G>A (p.Gly352=) single nucleotide variant not provided [RCV002807063] Chr10:101019090 [GRCh38]
Chr10:102778847 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1185del (p.Ala396fs) deletion not provided [RCV002811605] Chr10:101018961 [GRCh38]
Chr10:102778718 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2006-11C>T single nucleotide variant not provided [RCV002715397] Chr10:101010894 [GRCh38]
Chr10:102770651 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.250_251insC (p.Ile84fs) insertion not provided [RCV002937386] Chr10:101024044..101024045 [GRCh38]
Chr10:102783801..102783802 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.275G>A (p.Ser92Asn) single nucleotide variant not provided [RCV003061920] Chr10:101024020 [GRCh38]
Chr10:102783777 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1970C>T (p.Thr657Met) single nucleotide variant not provided [RCV003089998] Chr10:101011725 [GRCh38]
Chr10:102771482 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2348_2349insTAGCCGCAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSerArgSer) microsatellite not provided [RCV002600758] Chr10:101010540..101010541 [GRCh38]
Chr10:102770297..102770298 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1040T>G (p.Met347Arg) single nucleotide variant not provided [RCV002600998] Chr10:101019106 [GRCh38]
Chr10:102778863 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1861G>A (p.Asp621Asn) single nucleotide variant not provided [RCV002792146] Chr10:101011997 [GRCh38]
Chr10:102771754 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.540G>A (p.Thr180=) single nucleotide variant not provided [RCV002649789] Chr10:101023438 [GRCh38]
Chr10:102783195 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.307G>A (p.Gly103Arg) single nucleotide variant not provided [RCV002580496] Chr10:101023988 [GRCh38]
Chr10:102783745 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2687G>C (p.Gly896Ala) single nucleotide variant not provided [RCV002717383] Chr10:101009281 [GRCh38]
Chr10:102769038 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1101C>G (p.Asp367Glu) single nucleotide variant not provided [RCV002628414] Chr10:101019045 [GRCh38]
Chr10:102778802 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1016C>T (p.Ser339Leu) single nucleotide variant not provided [RCV002671629] Chr10:101019130 [GRCh38]
Chr10:102778887 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2713C>G (p.Leu905Val) single nucleotide variant not provided [RCV003061842] Chr10:101009255 [GRCh38]
Chr10:102769012 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2267T>C (p.Leu756Pro) single nucleotide variant not provided [RCV002811922] Chr10:101010622 [GRCh38]
Chr10:102770379 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2713del (p.Leu905fs) deletion not provided [RCV002857519] Chr10:101009255 [GRCh38]
Chr10:102769012 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1037G>T (p.Arg346Leu) single nucleotide variant not provided [RCV002716066] Chr10:101019109 [GRCh38]
Chr10:102778866 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1019G>A (p.Gly340Asp) single nucleotide variant not provided [RCV002716443] Chr10:101019127 [GRCh38]
Chr10:102778884 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.263G>A (p.Arg88Gln) single nucleotide variant not provided [RCV002635236] Chr10:101024032 [GRCh38]
Chr10:102783789 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.891C>T (p.Tyr297=) single nucleotide variant not provided [RCV002605397] Chr10:101020655 [GRCh38]
Chr10:102780412 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter) single nucleotide variant PDZD7-Related Disorders [RCV003155499]|not provided [RCV002943484] Chr10:101019135 [GRCh38]
Chr10:102778892 [GRCh37]
Chr10:10q24.31
pathogenic|likely pathogenic
NM_001195263.2(PDZD7):c.536C>T (p.Thr179Ile) single nucleotide variant not provided [RCV003032241] Chr10:101023442 [GRCh38]
Chr10:102783199 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.853A>G (p.Met285Val) single nucleotide variant not provided [RCV003049737] Chr10:101021812 [GRCh38]
Chr10:102781569 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1750-16C>T single nucleotide variant not provided [RCV002605048] Chr10:101012274 [GRCh38]
Chr10:102772031 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1735C>T (p.Arg579Cys) single nucleotide variant not provided [RCV003092655] Chr10:101015650 [GRCh38]
Chr10:102775407 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2259A>C (p.Thr753=) single nucleotide variant not provided [RCV002583759] Chr10:101010630 [GRCh38]
Chr10:102770387 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2089G>T (p.Ala697Ser) single nucleotide variant not provided [RCV002635667] Chr10:101010800 [GRCh38]
Chr10:102770557 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3043C>T (p.Pro1015Ser) single nucleotide variant not provided [RCV003050048] Chr10:101008526 [GRCh38]
Chr10:102768283 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2283T>A (p.Pro761=) single nucleotide variant not provided [RCV002607421] Chr10:101010606 [GRCh38]
Chr10:102770363 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1018G>A (p.Gly340Ser) single nucleotide variant not provided [RCV002589215] Chr10:101019128 [GRCh38]
Chr10:102778885 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2650G>A (p.Val884Met) single nucleotide variant not provided [RCV003050002] Chr10:101009318 [GRCh38]
Chr10:102769075 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1097C>A (p.Ala366Glu) single nucleotide variant not provided [RCV002943837] Chr10:101019049 [GRCh38]
Chr10:102778806 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.3026del (p.Pro1009fs) deletion not provided [RCV003073285] Chr10:101008543 [GRCh38]
Chr10:102768300 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1800C>A (p.Ile600=) single nucleotide variant not provided [RCV002586481] Chr10:101012208 [GRCh38]
Chr10:102771965 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2209C>A (p.Gln737Lys) single nucleotide variant Inborn genetic diseases [RCV002723413] Chr10:101010680 [GRCh38]
Chr10:102770437 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2617+11G>A single nucleotide variant not provided [RCV002652950] Chr10:101010261 [GRCh38]
Chr10:102770018 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2236C>T (p.Leu746=) single nucleotide variant not provided [RCV002653513] Chr10:101010653 [GRCh38]
Chr10:102770410 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.969G>A (p.Glu323=) single nucleotide variant not provided [RCV002814954] Chr10:101019177 [GRCh38]
Chr10:102778934 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2342_2343insTAGCCGCAGCCGCAGCCG (p.Ser784_Ser785insArgSerArgSerArgSer) microsatellite not provided [RCV002609875] Chr10:101010546..101010547 [GRCh38]
Chr10:102770303..102770304 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.199G>A (p.Val67Ile) single nucleotide variant not provided [RCV002589583] Chr10:101030021 [GRCh38]
Chr10:102789778 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.312C>A (p.Gly104=) single nucleotide variant not provided [RCV002603984] Chr10:101023983 [GRCh38]
Chr10:102783740 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1312C>T (p.Leu438=) single nucleotide variant not provided [RCV002585808] Chr10:101018834 [GRCh38]
Chr10:102778591 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.473G>A (p.Arg158His) single nucleotide variant not provided [RCV002612680] Chr10:101023505 [GRCh38]
Chr10:102783262 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.1186G>T (p.Ala396Ser) single nucleotide variant not provided [RCV002612722] Chr10:101018960 [GRCh38]
Chr10:102778717 [GRCh37]
Chr10:10q24.31
uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
NM_001195263.2(PDZD7):c.2495_2557dup (p.Ala852_Met853insLysValGlyAlaLysGlnGlyProSerGluSerGlyThrGluGlyThrAlaLysGluAlaAla) duplication not provided [RCV003325742] Chr10:101010331..101010332 [GRCh38]
Chr10:102770088..102770089 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2473C>T (p.Pro825Ser) single nucleotide variant not provided [RCV003325801] Chr10:101010416 [GRCh38]
Chr10:102770173 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2159T>G (p.Val720Gly) single nucleotide variant not provided [RCV003571207] Chr10:101010730 [GRCh38]
Chr10:102770487 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2694C>A (p.Ala898=) single nucleotide variant not provided [RCV003543423] Chr10:101009274 [GRCh38]
Chr10:102769031 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.680G>T (p.Arg227Leu) single nucleotide variant not provided [RCV003875351] Chr10:101022248 [GRCh38]
Chr10:102782005 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.402G>A (p.Thr134=) single nucleotide variant not provided [RCV003874773] Chr10:101023576 [GRCh38]
Chr10:102783333 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1095G>C (p.Arg365=) single nucleotide variant not provided [RCV003569128] Chr10:101019051 [GRCh38]
Chr10:102778808 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.297_304dup (p.Arg102fs) duplication not provided [RCV003686235] Chr10:101023990..101023991 [GRCh38]
Chr10:102783747..102783748 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1841+2T>A single nucleotide variant not provided [RCV003456719] Chr10:101012165 [GRCh38]
Chr10:102771922 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.175_182del (p.Arg59fs) deletion PDZD7-related condition [RCV003391362] Chr10:101030038..101030045 [GRCh38]
Chr10:102789795..102789802 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.2027_2028del (p.Leu676fs) deletion not provided [RCV003574526] Chr10:101010861..101010862 [GRCh38]
Chr10:102770618..102770619 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.1749+2T>G single nucleotide variant not provided [RCV003688789] Chr10:101015634 [GRCh38]
Chr10:102775391 [GRCh37]
Chr10:10q24.31
likely pathogenic
NM_001195263.2(PDZD7):c.1574-18A>G single nucleotide variant not provided [RCV003715156] Chr10:101015829 [GRCh38]
Chr10:102775586 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1320G>C (p.Leu440Phe) single nucleotide variant not provided [RCV003659781] Chr10:101018826 [GRCh38]
Chr10:102778583 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.2946T>C (p.Ala982=) single nucleotide variant not provided [RCV003661632] Chr10:101008623 [GRCh38]
Chr10:102768380 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2394C>T (p.Ser798=) single nucleotide variant not provided [RCV003687380] Chr10:101010495 [GRCh38]
Chr10:102770252 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.928+20C>G single nucleotide variant not provided [RCV003713848] Chr10:101020598 [GRCh38]
Chr10:102780355 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.2246A>C (p.Asn749Thr) single nucleotide variant not provided [RCV003713837] Chr10:101010643 [GRCh38]
Chr10:102770400 [GRCh37]
Chr10:10q24.31
uncertain significance
NM_001195263.2(PDZD7):c.189_196dup (p.Arg66fs) duplication not provided [RCV003713796] Chr10:101030023..101030024 [GRCh38]
Chr10:102789780..102789781 [GRCh37]
Chr10:10q24.31
pathogenic
NM_001195263.2(PDZD7):c.2220C>G (p.Pro740=) single nucleotide variant not provided [RCV003689349] Chr10:101010669 [GRCh38]
Chr10:102770426 [GRCh37]
Chr10:10q24.31
likely benign
NM_001195263.2(PDZD7):c.1836C>T (p.Asp612=) single nucleotide variant not provided [RCV003715650] Chr10:101012172 [GRCh38]
Chr10:102771929 [GRCh37]
Chr10:10q24.31
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3235
Count of miRNA genes:999
Interacting mature miRNAs:1254
Transcripts:ENST00000370215, ENST00000433616, ENST00000470414, ENST00000474125, ENST00000476306
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.

Markers in Region
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 21 127 29 1 1 1114 3 6 13 1 1
Low 1299 1034 856 105 563 53 3155 514 2563 320 1291 1302 66 1 1072 1697 5 2
Below cutoff 1118 1934 697 473 1143 366 1192 1669 57 93 162 296 106 132 1081

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005270165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK024422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW058493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA197280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ617449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000370215   ⟹   ENSP00000359234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,017,332 - 101,031,133 (-)Ensembl
RefSeq Acc Id: ENST00000470414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,023,128 - 101,031,114 (-)Ensembl
RefSeq Acc Id: ENST00000474125   ⟹   ENSP00000474447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,007,810 - 101,031,105 (-)Ensembl
RefSeq Acc Id: ENST00000619208   ⟹   ENSP00000480489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,007,679 - 101,031,129 (-)Ensembl
RefSeq Acc Id: ENST00000642474   ⟹   ENSP00000495531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,030,178 - 101,030,768 (-)Ensembl
RefSeq Acc Id: ENST00000644576   ⟹   ENSP00000495417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,030,034 - 101,032,295 (-)Ensembl
RefSeq Acc Id: ENST00000644782   ⟹   ENSP00000496747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,011,039 - 101,031,129 (-)Ensembl
RefSeq Acc Id: ENST00000645349   ⟹   ENSP00000495283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,017,377 - 101,031,104 (-)Ensembl
RefSeq Acc Id: ENST00000646029   ⟹   ENSP00000493998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10101,030,062 - 101,031,144 (-)Ensembl
RefSeq Acc Id: NM_001195263   ⟹   NP_001182192
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,007,679 - 101,031,129 (-)NCBI
GRCh3710102,767,440 - 102,790,914 (-)ENTREZGENE
HuRef1096,396,919 - 96,420,430 (-)ENTREZGENE
CHM1_110103,051,644 - 103,075,147 (-)NCBI
T2T-CHM13v2.010101,891,054 - 101,914,529 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351044   ⟹   NP_001337973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,376 - 101,031,129 (-)NCBI
T2T-CHM13v2.010101,900,762 - 101,914,529 (-)NCBI
Sequence:
RefSeq Acc Id: NM_024895   ⟹   NP_079171
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,376 - 101,031,129 (-)NCBI
GRCh3710102,767,440 - 102,790,914 (-)ENTREZGENE
Build 3610102,767,079 - 102,780,869 (-)NCBI Archive
Celera1096,514,823 - 96,528,615 (-)RGD
HuRef1096,396,919 - 96,420,430 (-)ENTREZGENE
CHM1_110103,061,325 - 103,075,147 (-)NCBI
T2T-CHM13v2.010101,900,762 - 101,914,529 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005270165   ⟹   XP_005270222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,011,690 - 101,031,129 (-)NCBI
GRCh3710102,767,440 - 102,790,914 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540177   ⟹   XP_011538479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,007,679 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540178   ⟹   XP_011538480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,007,679 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540179   ⟹   XP_011538481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,010,272 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540181   ⟹   XP_011538483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,012,172 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011540183   ⟹   XP_011538485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,015,724 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016667   ⟹   XP_016872156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,115 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016668   ⟹   XP_016872157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,115 - 101,031,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425767   ⟹   XP_047281723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,007,679 - 101,031,129 (-)NCBI
RefSeq Acc Id: XM_047425768   ⟹   XP_047281724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,011,298 - 101,031,129 (-)NCBI
RefSeq Acc Id: XM_047425769   ⟹   XP_047281725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,115 - 101,031,129 (-)NCBI
RefSeq Acc Id: XM_047425771   ⟹   XP_047281727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,017,376 - 101,031,129 (-)NCBI
RefSeq Acc Id: XM_054366763   ⟹   XP_054222738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,891,054 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366764   ⟹   XP_054222739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,891,054 - 101,914,544 (-)NCBI
RefSeq Acc Id: XM_054366765   ⟹   XP_054222740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,891,054 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366766   ⟹   XP_054222741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,893,650 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366767   ⟹   XP_054222742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,900,718 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366768   ⟹   XP_054222743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,900,718 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366769   ⟹   XP_054222744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,895,068 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366770   ⟹   XP_054222745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,895,550 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366771   ⟹   XP_054222746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,899,110 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366772   ⟹   XP_054222747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,900,718 - 101,914,529 (-)NCBI
RefSeq Acc Id: XM_054366773   ⟹   XP_054222748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,900,762 - 101,914,529 (-)NCBI
RefSeq Acc Id: XR_008488266
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010101,895,303 - 101,914,529 (-)NCBI
RefSeq Acc Id: XR_945816
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810101,011,925 - 101,031,129 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001182192 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337973 (Get FASTA)   NCBI Sequence Viewer  
  NP_079171 (Get FASTA)   NCBI Sequence Viewer  
  XP_005270222 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538479 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538480 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538481 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538483 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538485 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872156 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872157 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281723 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281724 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281725 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281727 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222739 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222740 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222741 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222742 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222743 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222744 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222745 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222746 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222747 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222748 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29054 (Get FASTA)   NCBI Sequence Viewer  
  ACU45386 (Get FASTA)   NCBI Sequence Viewer  
  BAB15577 (Get FASTA)   NCBI Sequence Viewer  
  BAB15712 (Get FASTA)   NCBI Sequence Viewer  
  EAW49788 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359234
  ENSP00000359234.3
  ENSP00000474447.1
  ENSP00000480489
  ENSP00000480489.1
  ENSP00000493998.1
  ENSP00000495283
  ENSP00000495283.1
  ENSP00000495417.1
  ENSP00000495531.1
  ENSP00000496747
  ENSP00000496747.1
GenBank Protein Q9H5P4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079171   ⟸   NM_024895
- Peptide Label: isoform 2
- UniProtKB: Q9H5P4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182192   ⟸   NM_001195263
- Peptide Label: isoform 1
- UniProtKB: D5FJ77 (UniProtKB/Swiss-Prot),   Q8N321 (UniProtKB/Swiss-Prot),   Q9H5P4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270222   ⟸   XM_005270165
- Peptide Label: isoform X6
- UniProtKB: A0A2R8Y892 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538480   ⟸   XM_011540178
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011538479   ⟸   XM_011540177
- Peptide Label: isoform X1
- UniProtKB: D5FJ77 (UniProtKB/Swiss-Prot),   Q8N321 (UniProtKB/Swiss-Prot),   Q9H5P4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538481   ⟸   XM_011540179
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011538483   ⟸   XM_011540181
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011538485   ⟸   XM_011540183
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016872156   ⟸   XM_017016667
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YFN1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872157   ⟸   XM_017016668
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001337973   ⟸   NM_001351044
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000359234   ⟸   ENST00000370215
RefSeq Acc Id: ENSP00000495531   ⟸   ENST00000642474
RefSeq Acc Id: ENSP00000495417   ⟸   ENST00000644576
RefSeq Acc Id: ENSP00000496747   ⟸   ENST00000644782
RefSeq Acc Id: ENSP00000480489   ⟸   ENST00000619208
RefSeq Acc Id: ENSP00000474447   ⟸   ENST00000474125
RefSeq Acc Id: ENSP00000495283   ⟸   ENST00000645349
RefSeq Acc Id: ENSP00000493998   ⟸   ENST00000646029
RefSeq Acc Id: XP_047281723   ⟸   XM_047425767
- Peptide Label: isoform X1
- UniProtKB: Q9H5P4 (UniProtKB/Swiss-Prot),   D5FJ77 (UniProtKB/Swiss-Prot),   Q8N321 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047281724   ⟸   XM_047425768
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047281725   ⟸   XM_047425769
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YFN1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047281727   ⟸   XM_047425771
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054222739   ⟸   XM_054366764
- Peptide Label: isoform X1
- UniProtKB: Q8N321 (UniProtKB/Swiss-Prot),   Q9H5P4 (UniProtKB/Swiss-Prot),   D5FJ77 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222740   ⟸   XM_054366765
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054222738   ⟸   XM_054366763
- Peptide Label: isoform X1
- UniProtKB: Q8N321 (UniProtKB/Swiss-Prot),   Q9H5P4 (UniProtKB/Swiss-Prot),   D5FJ77 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054222741   ⟸   XM_054366766
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054222744   ⟸   XM_054366769
- Peptide Label: isoform X6
- UniProtKB: A0A2R8Y892 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222745   ⟸   XM_054366770
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054222746   ⟸   XM_054366771
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054222742   ⟸   XM_054366767
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YFN1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222747   ⟸   XM_054366772
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054222743   ⟸   XM_054366768
- Peptide Label: isoform X5
- UniProtKB: A0A2R8YFN1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054222748   ⟸   XM_054366773
- Peptide Label: isoform X10
Protein Domains
PDZ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H5P4-F1-model_v2 AlphaFold Q9H5P4 1-1033 view protein structure

Promoters
RGD ID:6787986
Promoter ID:HG_KWN:10888
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
Transcripts:ENST00000370216,   ENST00000393459,   ENST00000393462,   OTTHUMT00000049881,   OTTHUMT00000049883,   OTTHUMT00000049884,   UC001KSN.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3610102,780,784 - 102,781,284 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26257 AgrOrtholog
COSMIC PDZD7 COSMIC
Ensembl Genes ENSG00000186862 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370215 ENTREZGENE
  ENST00000370215.7 UniProtKB/Swiss-Prot
  ENST00000474125.7 UniProtKB/TrEMBL
  ENST00000619208 ENTREZGENE
  ENST00000619208.6 UniProtKB/Swiss-Prot
  ENST00000642474.1 UniProtKB/TrEMBL
  ENST00000644576.1 UniProtKB/TrEMBL
  ENST00000644782 ENTREZGENE
  ENST00000644782.1 UniProtKB/TrEMBL
  ENST00000645349 ENTREZGENE
  ENST00000645349.1 UniProtKB/TrEMBL
  ENST00000646029.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1160.20 UniProtKB/Swiss-Prot
  2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186862 GTEx
HGNC ID HGNC:26257 ENTREZGENE
Human Proteome Map PDZD7 Human Proteome Map
InterPro PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZD7_HN-like UniProtKB/Swiss-Prot
KEGG Report hsa:79955 UniProtKB/Swiss-Prot
NCBI Gene 79955 ENTREZGENE
OMIM 612971 OMIM
PANTHER PDZ DOMAIN CONTAINING WHIRLIN AND HARMONIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ DOMAIN-CONTAINING PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671189 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
PROSITE PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y4R0_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6B4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y6W6_HUMAN UniProtKB/TrEMBL
  A0A2R8Y892 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8YFN1 ENTREZGENE, UniProtKB/TrEMBL
  D5FJ77 ENTREZGENE
  PDZD7_HUMAN UniProtKB/Swiss-Prot
  Q8N321 ENTREZGENE
  Q9H5P4 ENTREZGENE
  S4R3J9_HUMAN UniProtKB/TrEMBL
UniProt Secondary D5FJ77 UniProtKB/Swiss-Prot
  Q8N321 UniProtKB/Swiss-Prot