TJP2 (tight junction protein 2) - Rat Genome Database

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Gene: TJP2 (tight junction protein 2) Homo sapiens
Analyze
Symbol: TJP2
Name: tight junction protein 2
RGD ID: 733146
HGNC Page HGNC:11828
Description: Enables protein domain specific binding activity; protein tyrosine kinase binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including establishment of endothelial intestinal barrier; intestinal absorption; and positive regulation of blood-brain barrier permeability. Located in several cellular components, including bicellular tight junction; cell-cell contact zone; and nucleus. Implicated in disease of metabolism and progressive familial intrahepatic cholestasis 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C9DUPq21.11; deafness, autosomal dominant 51; DFNA51; DUP9q21.11; FHCA1; Friedreich ataxia region gene X104 (tight junction protein ZO-2); MGC26306; PFIC4; tight junction protein ZO 2; tight junction protein ZO-2; X104; ZO-2; ZO2; zona occludens 2; zona occludens protein 2; zonula occludens protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,121,264 - 69,255,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl969,121,264 - 69,274,615 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,736,180 - 71,870,124 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,978,909 - 71,059,940 (+)NCBINCBI36Build 36hg18NCBI36
Build 34969,018,642 - 69,099,672NCBI
Celera942,332,221 - 42,460,614 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,580,602 - 41,709,784 (+)NCBIHuRef
CHM1_1971,882,855 - 72,016,570 (+)NCBICHM1_1
T2T-CHM13v2.0981,294,639 - 81,423,094 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butyric acid  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
corn oil  (ISO)
coumarin  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP,ISO)
dibenzo[a,l]pyrene  (EXP)
Dibutyl phosphate  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glucose  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhizinic acid  (ISO)
hexadecanoic acid  (ISO)
hydroquinone  (EXP)
ivermectin  (EXP)
lead(0)  (ISO)
levofloxacin  (ISO)
lipopolysaccharide  (EXP)
malaoxon  (ISO)
malathion  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
N-acetyl-L-cysteine  (ISO)
nefazodone  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rifampicin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulindac  (ISO)
sunitinib  (EXP)
Sunset Yellow FCF  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

References - curated
# Reference Title Reference Citation
1. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Carlton VE, etal., Nat Genet 2003 May;34(1):91-6.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Comparative changes in the blood-brain barrier and cerebral infarction of SHR and WKY rats. Hom S, etal., Am J Physiol Regul Integr Comp Physiol. 2007 Jan 18;.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7542259   PMID:7951235   PMID:8824195   PMID:9458817   PMID:9792688   PMID:10026224   PMID:10360833   PMID:10495427   PMID:10575001   PMID:10601346   PMID:10613913   PMID:10874042  
PMID:10966866   PMID:11018256   PMID:11042084   PMID:11076863   PMID:11090614   PMID:11598001   PMID:11855865   PMID:12023291   PMID:12152786   PMID:12403786   PMID:12477932   PMID:12645256  
PMID:12829691   PMID:14512431   PMID:14515355   PMID:15054114   PMID:15144186   PMID:15164053   PMID:15302935   PMID:15324660   PMID:15489334   PMID:15489336   PMID:15570572   PMID:15592455  
PMID:15768832   PMID:15778465   PMID:15975580   PMID:15977641   PMID:16159877   PMID:16344560   PMID:16381901   PMID:16697675   PMID:16964243   PMID:17081983   PMID:17217619   PMID:17353931  
PMID:18003888   PMID:18029348   PMID:18224337   PMID:18569453   PMID:18667611   PMID:18823282   PMID:19019082   PMID:19071123   PMID:19148554   PMID:19342771   PMID:19380416   PMID:19418635  
PMID:19538295   PMID:19615732   PMID:19784548   PMID:20301607   PMID:20562859   PMID:20602916   PMID:20850437   PMID:20868367   PMID:20868680   PMID:21641584   PMID:21679692   PMID:21685940  
PMID:21873635   PMID:22006950   PMID:22044751   PMID:22094256   PMID:22586326   PMID:22591361   PMID:22665060   PMID:22671599   PMID:22731716   PMID:22863883   PMID:22939629   PMID:23396134  
PMID:23602568   PMID:23605953   PMID:23612256   PMID:23758859   PMID:23851495   PMID:23885123   PMID:24255178   PMID:24614073   PMID:24660027   PMID:24711643   PMID:25277244   PMID:25468996  
PMID:25544563   PMID:25662211   PMID:25712527   PMID:25921221   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26354767   PMID:26496610   PMID:26638075   PMID:26668150   PMID:26673895  
PMID:28031328   PMID:28039895   PMID:28073941   PMID:28302793   PMID:28415133   PMID:28477369   PMID:28514442   PMID:28675297   PMID:28695742   PMID:28718761   PMID:28813667   PMID:28927264  
PMID:29042928   PMID:29238877   PMID:29507755   PMID:29576527   PMID:29721183   PMID:29791485   PMID:29961565   PMID:30021884   PMID:30258100   PMID:30280653   PMID:30463901   PMID:30713254  
PMID:30833792   PMID:30884312   PMID:30979931   PMID:31091453   PMID:31324722   PMID:31428943   PMID:31452512   PMID:31462741   PMID:31540324   PMID:31586073   PMID:31675499   PMID:31696999  
PMID:31871319   PMID:31980649   PMID:32089630   PMID:32203420   PMID:32457219   PMID:32687490   PMID:32807901   PMID:33022573   PMID:33111431   PMID:33644029   PMID:33762435   PMID:33961781  
PMID:34010016   PMID:34079125   PMID:34244482   PMID:34285210   PMID:34315543   PMID:34672954   PMID:35013218   PMID:35256949   PMID:35264565   PMID:35271311   PMID:35439318   PMID:35509820  
PMID:35831314   PMID:35844135   PMID:35850772   PMID:35944360   PMID:36042349   PMID:36108118   PMID:36114006   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36526897   PMID:36774506  
PMID:36931259   PMID:37151849   PMID:37381005   PMID:37827155   PMID:37995182   PMID:38113892   PMID:38280479   PMID:38569033  


Genomics

Comparative Map Data
TJP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38969,121,264 - 69,255,208 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl969,121,264 - 69,274,615 (+)EnsemblGRCh38hg38GRCh38
GRCh37971,736,180 - 71,870,124 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36970,978,909 - 71,059,940 (+)NCBINCBI36Build 36hg18NCBI36
Build 34969,018,642 - 69,099,672NCBI
Celera942,332,221 - 42,460,614 (+)NCBICelera
Cytogenetic Map9q21.11NCBI
HuRef941,580,602 - 41,709,784 (+)NCBIHuRef
CHM1_1971,882,855 - 72,016,570 (+)NCBICHM1_1
T2T-CHM13v2.0981,294,639 - 81,423,094 (+)NCBIT2T-CHM13v2.0
Tjp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391924,071,860 - 24,202,492 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1924,071,869 - 24,202,394 (-)EnsemblGRCm39 Ensembl
GRCm381924,094,496 - 24,225,128 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1924,094,505 - 24,225,030 (-)EnsemblGRCm38mm10GRCm38
MGSCv371924,168,992 - 24,299,444 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361924,161,608 - 24,241,085 (-)NCBIMGSCv36mm8
Celera1924,858,437 - 24,990,672 (-)NCBICelera
Cytogenetic Map19BNCBI
cM Map1919.17NCBI
Tjp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81231,136,218 - 231,264,750 (-)NCBIGRCr8
mRatBN7.21221,709,745 - 221,838,291 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,709,745 - 221,838,295 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1230,159,462 - 230,287,384 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01237,089,516 - 237,217,442 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01229,907,552 - 230,035,465 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01241,945,816 - 242,084,044 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1241,945,841 - 242,083,484 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01249,224,590 - 249,358,779 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,475,386 - 227,574,457 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11227,639,414 - 227,668,771 (-)NCBI
Celera1218,921,753 - 219,049,897 (-)NCBICelera
Cytogenetic Map1q51NCBI
Tjp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554343,781,113 - 3,923,391 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554343,781,368 - 3,923,240 (-)NCBIChiLan1.0ChiLan1.0
TJP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21168,311,183 - 68,465,150 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1968,317,161 - 68,471,088 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0955,536,627 - 55,690,472 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1967,865,958 - 68,020,569 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl967,886,421 - 68,021,189 (+)Ensemblpanpan1.1panPan2
TJP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1188,126,134 - 88,251,018 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl188,126,136 - 88,230,654 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha188,593,804 - 88,698,045 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0188,673,963 - 88,797,946 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl188,673,965 - 88,778,196 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1188,329,360 - 88,433,088 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0188,035,802 - 88,139,746 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0188,799,691 - 88,904,715 (-)NCBIUU_Cfam_GSD_1.0
Tjp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947135,633,106 - 135,729,071 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365035,497,832 - 5,539,090 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365035,414,330 - 5,539,895 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TJP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,474,639 - 222,612,983 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,474,518 - 222,612,989 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21248,714,644 - 248,883,729 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TJP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11280,224,497 - 80,358,495 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1280,307,380 - 80,358,584 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603868,660,986 - 68,767,811 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tjp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247363,834,548 - 3,878,828 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247363,833,402 - 4,009,385 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TJP2
627 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004817.4(TJP2):c.3104A>C (p.Tyr1035Ser) single nucleotide variant not provided [RCV000728138] Chr9:69251147 [GRCh38]
Chr9:71866063 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2863C>A (p.Pro955Thr) single nucleotide variant Inborn genetic diseases [RCV002533113]|not provided [RCV000729802] Chr9:69248207 [GRCh38]
Chr9:71863123 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003492157]|not provided [RCV000729812] Chr9:69239953 [GRCh38]
Chr9:71854869 [GRCh37]
Chr9:9q21.11		 pathogenic|uncertain significance
NM_004817.4(TJP2):c.3071G>A (p.Gly1024Asp) single nucleotide variant not provided [RCV000729088] Chr9:69251114 [GRCh38]
Chr9:71866030 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3503A>G (p.Gln1168Arg) single nucleotide variant not provided [RCV000728574] Chr9:69254304 [GRCh38]
Chr9:71869220 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.84dup (p.Trp29fs) duplication not provided [RCV000728651] Chr9:69212570..69212571 [GRCh38]
Chr9:71827486..71827487 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3484G>A (p.Glu1162Lys) single nucleotide variant not provided [RCV000728669] Chr9:69254285 [GRCh38]
Chr9:71869201 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2179G>C (p.Ala727Pro) single nucleotide variant not provided [RCV000728699] Chr9:69237136 [GRCh38]
Chr9:71852052 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.608G>A (p.Arg203Gln) single nucleotide variant Inborn genetic diseases [RCV002535088]|not provided [RCV000728704] Chr9:69221152 [GRCh38]
Chr9:71836068 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1885G>A (p.Glu629Lys) single nucleotide variant not provided [RCV000728707] Chr9:69236132 [GRCh38]
Chr9:71851048 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3366C>T (p.Ile1122=) single nucleotide variant not provided [RCV000727986] Chr9:69252859 [GRCh38]
Chr9:71867775 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) single nucleotide variant TJP2-related disorder [RCV004751682]|not provided [RCV000728757] Chr9:69251203 [GRCh38]
Chr9:71866119 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.61-7359A>T single nucleotide variant not provided [RCV000728785] Chr9:69205189 [GRCh38]
Chr9:71820105 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.143T>C (p.Val48Ala) single nucleotide variant Hypercholanemia, familial 1 [RCV000003041]|not provided [RCV004719614] Chr9:69216367 [GRCh38]
Chr9:71831283 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) single nucleotide variant not provided [RCV002054635]|not specified [RCV000037066] Chr9:69226102 [GRCh38]
Chr9:71841018 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838538]|Hypercholanemia, familial 1 [RCV001838537]|not provided [RCV002054636]|not specified [RCV000037067] Chr9:69228107 [GRCh38]
Chr9:71843023 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) single nucleotide variant not provided [RCV000880873]|not specified [RCV000037068] Chr9:69229208 [GRCh38]
Chr9:71844124 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) single nucleotide variant TJP2-related disorder [RCV004751235]|not provided [RCV000762560]|not specified [RCV000037069] Chr9:69236124 [GRCh38]
Chr9:71851040 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) single nucleotide variant not provided [RCV000713853]|not specified [RCV000037070] Chr9:69236164 [GRCh38]
Chr9:71851080 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2004G>A (p.Met668Ile) single nucleotide variant not provided [RCV000993325]|not specified [RCV000037071] Chr9:69236961 [GRCh38]
Chr9:71851877 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) single nucleotide variant not provided [RCV000840093]|not specified [RCV000037072] Chr9:69236997 [GRCh38]
Chr9:71851913 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.297G>A (p.Ser99=) single nucleotide variant not provided [RCV000951099]|not specified [RCV000037073] Chr9:69218314 [GRCh38]
Chr9:71833230 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) single nucleotide variant not provided [RCV000993326]|not specified [RCV000037074] Chr9:69246769 [GRCh38]
Chr9:71861685 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) single nucleotide variant not provided [RCV000885887]|not specified [RCV000037075] Chr9:69254296 [GRCh38]
Chr9:71869212 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) single nucleotide variant not provided [RCV002054637]|not specified [RCV000037076] Chr9:69220926 [GRCh38]
Chr9:71835842 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.904C>T (p.Arg302Trp) single nucleotide variant not provided [RCV002513456]|not specified [RCV000037077] Chr9:69221448 [GRCh38]
Chr9:71836364 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.918C>T (p.Ile306=) single nucleotide variant not provided [RCV000730537]|not specified [RCV000037078] Chr9:69221462 [GRCh38]
Chr9:71836378 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1035C>A (p.His345Gln) single nucleotide variant Inborn genetic diseases [RCV004678598]|not specified [RCV000037079] Chr9:69225386 [GRCh38]
Chr9:71840302 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7316G>A single nucleotide variant not provided [RCV004712007]|not specified [RCV000037080] Chr9:69205232 [GRCh38]
Chr9:71820148 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838540]|Hypercholanemia, familial 1 [RCV001838539]|not provided [RCV002054638]|not specified [RCV000037081] Chr9:69248059 [GRCh38]
Chr9:71862975 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838542]|Hypercholanemia, familial 1 [RCV001838541]|not provided [RCV002054639]|not specified [RCV000037082] Chr9:69248071 [GRCh38]
Chr9:71862987 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) single nucleotide variant not provided [RCV000993327]|not specified [RCV000037083] Chr9:69248122 [GRCh38]
Chr9:71863038 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.2880+72G>A single nucleotide variant not specified [RCV000037084] Chr9:69248296 [GRCh38]
Chr9:71863212 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2880+95A>G single nucleotide variant not provided [RCV001689589]|not specified [RCV000037085] Chr9:69248319 [GRCh38]
Chr9:71863235 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2992-8C>T single nucleotide variant Hypercholanemia, familial 1 [RCV002490520]|not provided [RCV000909451]|not specified [RCV000038251] Chr9:69251027 [GRCh38]
Chr9:71865943 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.3029C>T (p.Ser1010Phe) single nucleotide variant not provided [RCV002054694]|not specified [RCV000038252] Chr9:69251072 [GRCh38]
Chr9:71865988 [GRCh37]
Chr9:9q21.11		 benign|likely benign
GRCh38/hg38 9q21.11-21.12(chr9:68426796-69606104)x1 copy number loss See cases [RCV000052904] Chr9:68426796..69606104 [GRCh38]
Chr9:71130848..72221020 [GRCh37]
Chr9:70231532..71410840 [NCBI36]
Chr9:9q21.11-21.12		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.3(TJP2):c.1474C>T (p.Pro492Ser) single nucleotide variant Malignant melanoma [RCV000068690] Chr9:69229204 [GRCh38]
Chr9:71844120 [GRCh37]
Chr9:71033940 [NCBI36]
Chr9:9q21.11		 not provided
NM_001170414.2(TJP2):c.-130-10224C>T single nucleotide variant Lung cancer [RCV000108345] Chr9:69141427 [GRCh38]
Chr9:71756343 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1001del (p.Arg334fs) deletion not provided [RCV000171538] Chr9:69225352 [GRCh38]
Chr9:71840268 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.239+19T>C single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838556]|Hypercholanemia, familial 1 [RCV001838555]|not provided [RCV001610491]|not specified [RCV000177217] Chr9:69216482 [GRCh38]
Chr9:71831398 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000201465] Chr9:69254206..69254371 [GRCh38]
Chr9:71869122..71869287 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001332517]|not provided [RCV001780252] Chr9:69240105 [GRCh38]
Chr9:71855021 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000128570]|Hypercholanemia, familial 1 [RCV003992192]|not provided [RCV000724354] Chr9:69221310..69221313 [GRCh38]
Chr9:71836226..71836229 [GRCh37]
Chr9:9q21.11		 pathogenic|uncertain significance
NM_004817.4(TJP2):c.885del (p.Ser296fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000128571] Chr9:69221426 [GRCh38]
Chr9:71836342 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1361del (p.Ala454fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000128572]|Hypercholanemia, familial 1 [RCV003992193] Chr9:69228022 [GRCh38]
Chr9:71842938 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1992-2A>G single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000128573]|not provided [RCV000724364] Chr9:69236947 [GRCh38]
Chr9:71851863 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:69060538-69564402)x3 copy number gain See cases [RCV000137473] Chr9:69060538..69564402 [GRCh38]
Chr9:71675454..72179318 [GRCh37]
Chr9:70865274..71369138 [NCBI36]
Chr9:9q21.11-21.12		 likely benign
GRCh38/hg38 9q21.11(chr9:69060538-69214496)x1 copy number loss See cases [RCV000137286] Chr9:69060538..69214496 [GRCh38]
Chr9:71675454..71829412 [GRCh37]
Chr9:70865274..71019232 [NCBI36]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.11(chr9:68991449-69164502)x3 copy number gain See cases [RCV000140627] Chr9:68991449..69164502 [GRCh38]
Chr9:71606365..71779418 [GRCh37]
Chr9:70796185..70969238 [NCBI36]
Chr9:9q21.11		 uncertain significance
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68802194-69342807)x3 copy number gain See cases [RCV000143167] Chr9:68802194..69342807 [GRCh38]
Chr9:71417110..71957723 [GRCh37]
Chr9:70606930..71147543 [NCBI36]
Chr9:9q21.11-21.12		 uncertain significance
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.2987C>T (p.Pro996Leu) single nucleotide variant not provided [RCV001770117]|not specified [RCV000155895] Chr9:69249481 [GRCh38]
Chr9:71864397 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.322A>T (p.Ser108Cys) single nucleotide variant not provided [RCV003328560]|not specified [RCV000155934] Chr9:69218339 [GRCh38]
Chr9:71833255 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3407+3A>G single nucleotide variant Hypercholanemia, familial 1 [RCV002498771]|not specified [RCV000156821] Chr9:69252903 [GRCh38]
Chr9:71867819 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2880+4A>G single nucleotide variant not provided [RCV003574716]|not specified [RCV000156872] Chr9:69248228 [GRCh38]
Chr9:71863144 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1444del (p.Asp482fs) deletion not provided [RCV003133151]|not specified [RCV000152021] Chr9:69228104 [GRCh38]
Chr9:71843020 [GRCh37]
Chr9:9q21.11		 likely pathogenic|uncertain significance
NM_004817.4(TJP2):c.2859G>T (p.Ser953=) single nucleotide variant not provided [RCV000926391]|not specified [RCV000152027] Chr9:69248203 [GRCh38]
Chr9:71863119 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2865G>A (p.Pro955=) single nucleotide variant not specified [RCV000152028] Chr9:69248209 [GRCh38]
Chr9:71863125 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2970A>G (p.Ala990=) single nucleotide variant not provided [RCV002516059]|not specified [RCV000152030] Chr9:69249464 [GRCh38]
Chr9:71864380 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3500G>A (p.Arg1167His) single nucleotide variant Inborn genetic diseases [RCV004019827]|not specified [RCV000152032] Chr9:69254301 [GRCh38]
Chr9:71869217 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) single nucleotide variant Hypercholanemia, familial 1 [RCV002505155]|TJP2-related disorder [RCV004751296]|not specified [RCV000152033] Chr9:69254358 [GRCh38]
Chr9:71869274 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.644G>A (p.Arg215His) single nucleotide variant not provided [RCV000972798]|not specified [RCV000155290] Chr9:69221188 [GRCh38]
Chr9:71836104 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) single nucleotide variant Hypercholanemia, familial 1 [RCV000766064]|TJP2-related disorder [RCV003927508]|not provided [RCV001731401]|not specified [RCV000155291] Chr9:69227812 [GRCh38]
Chr9:71842728 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.1521-7A>C single nucleotide variant TJP2-related disorder [RCV003945235]|not provided [RCV002514992]|not specified [RCV000155292] Chr9:69230075 [GRCh38]
Chr9:71844991 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) single nucleotide variant TJP2-related disorder [RCV003937462]|not provided [RCV000891538]|not specified [RCV000155394] Chr9:69226056 [GRCh38]
Chr9:71840972 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.342+12G>T single nucleotide variant not provided [RCV000834388]|not specified [RCV000155395] Chr9:69218371 [GRCh38]
Chr9:71833287 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) single nucleotide variant not provided [RCV000961932]|not specified [RCV000155396] Chr9:69237088 [GRCh38]
Chr9:71852004 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.61-7344G>C single nucleotide variant TJP2-related disorder [RCV003917527]|not provided [RCV000993329]|not specified [RCV000155434] Chr9:69205204 [GRCh38]
Chr9:71820120 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) single nucleotide variant TJP2-related disorder [RCV003907477]|not provided [RCV000884250]|not specified [RCV000155436] Chr9:69248035 [GRCh38]
Chr9:71862951 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) single nucleotide variant not provided [RCV000886729]|not specified [RCV000155437] Chr9:69248154 [GRCh38]
Chr9:71863070 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) single nucleotide variant TJP2-related disorder [RCV004751302]|not provided [RCV000727384]|not specified [RCV000155439] Chr9:69251106 [GRCh38]
Chr9:71866022 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2858C>T (p.Ser953Leu) single nucleotide variant not provided [RCV000728975]|not specified [RCV000155441] Chr9:69248202 [GRCh38]
Chr9:71863118 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-6A>T single nucleotide variant TJP2-related disorder [RCV003917482]|not provided [RCV000907762]|not specified [RCV000152017] Chr9:69212542 [GRCh38]
Chr9:71827458 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 51 [RCV004584614]|Hypercholanemia, familial 1 [RCV001250045]|TJP2-related disorder [RCV003935276]|not provided [RCV000662345]|not specified [RCV000152018] Chr9:69216409 [GRCh38]
Chr9:71831325 [GRCh37]
Chr9:9q21.11		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_004817.4(TJP2):c.698G>A (p.Arg233Gln) single nucleotide variant not provided [RCV000889706]|not specified [RCV000152019] Chr9:69221242 [GRCh38]
Chr9:71836158 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) single nucleotide variant not provided [RCV000961931]|not specified [RCV000152020] Chr9:69228011 [GRCh38]
Chr9:71842927 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2129T>C (p.Val710Ala) single nucleotide variant not provided [RCV001753539]|not specified [RCV000152022] Chr9:69237086 [GRCh38]
Chr9:71852002 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) single nucleotide variant not provided [RCV000907834]|not specified [RCV000152023] Chr9:69237094 [GRCh38]
Chr9:71852010 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) single nucleotide variant not provided [RCV000907835]|not specified [RCV000152024] Chr9:69239948 [GRCh38]
Chr9:71854864 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) single nucleotide variant TJP2-related disorder [RCV003927468]|not provided [RCV000900846]|not specified [RCV000152025] Chr9:69246759 [GRCh38]
Chr9:71861675 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) single nucleotide variant TJP2-related disorder [RCV003917483]|not provided [RCV001753540]|not specified [RCV000152026] Chr9:69248064 [GRCh38]
Chr9:71862980 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2880+19C>T single nucleotide variant not provided [RCV000726576]|not specified [RCV000152029] Chr9:69248243 [GRCh38]
Chr9:71863159 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.3342T>C (p.His1114=) single nucleotide variant TJP2-related disorder [RCV003975185]|not provided [RCV000840155]|not specified [RCV000152031] Chr9:69252835 [GRCh38]
Chr9:71867751 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) deletion Hypercholanemia, familial 1 [RCV002484939]|Nonsyndromic Hearing Loss, Dominant [RCV000391968]|not provided [RCV000724040]|not specified [RCV000155585] Chr9:69227766..69227768 [GRCh38]
Chr9:71842682..71842684 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.745_746delinsAT (p.Tyr249Ile) indel not provided [RCV000178896] Chr9:69221289..69221290 [GRCh38]
Chr9:71836205..71836206 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.577C>T (p.Arg193Trp) single nucleotide variant TJP2-related disorder [RCV004751340]|not provided [RCV000178897] Chr9:69221121 [GRCh38]
Chr9:71836037 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1027A>G (p.Asn343Asp) single nucleotide variant not provided [RCV000179447] Chr9:69225378 [GRCh38]
Chr9:71840294 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3408-6del deletion not provided [RCV000176403] Chr9:69254197 [GRCh38]
Chr9:71869113 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q21.11(chr9:71395668-71944494)x3 copy number gain See cases [RCV000240188] Chr9:71395668..71944494 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) duplication Cholestasis, progressive familial intrahepatic, 4 [RCV000203571] Chr9:69240012..69240013 [GRCh38]
Chr9:71854928..71854929 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.817del (p.Ala273fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000203574]|not provided [RCV000728650] Chr9:69221358 [GRCh38]
Chr9:71836274 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2668-1G>T single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000203578] Chr9:69248011 [GRCh38]
Chr9:71862927 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3407+7G>A single nucleotide variant TJP2-related disorder [RCV003955263]|not provided [RCV002057150]|not specified [RCV000223651] Chr9:69252907 [GRCh38]
Chr9:71867823 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.3190G>T (p.Val1064Leu) single nucleotide variant not provided [RCV000842339]|not specified [RCV000220318] Chr9:69251233 [GRCh38]
Chr9:71866149 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004817.4(TJP2):c.61-7319G>C single nucleotide variant not provided [RCV000727141]|not specified [RCV000214742] Chr9:69205229 [GRCh38]
Chr9:71820145 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) single nucleotide variant TJP2-related disorder [RCV003977617]|not provided [RCV003718143]|not specified [RCV000216644] Chr9:69248163 [GRCh38]
Chr9:71863079 [GRCh37]
Chr9:9q21.11		 benign|likely benign|uncertain significance
NM_004817.4(TJP2):c.2864C>T (p.Pro955Leu) single nucleotide variant TJP2-related disorder [RCV003919884]|not provided [RCV000734093]|not specified [RCV000219208] Chr9:69248208 [GRCh38]
Chr9:71863124 [GRCh37]
Chr9:9q21.11		 uncertain significance
NC_000009.11:g.71705804_71974823invdup duplication Autosomal dominant nonsyndromic hearing loss 51 [RCV000225069] Chr9:9q21.11 pathogenic
NC_000009.12:g.69090066_69225446dup duplication Autosomal dominant nonsyndromic hearing loss 51 [RCV000225083] Chr9:69090066..69225446 [GRCh38]
Chr9:71704982..71840362 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001335194]|TJP2-related disorder [RCV003939944]|not provided [RCV000270991] Chr9:69251111 [GRCh38]
Chr9:71866027 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q21.11(chr9:71661284-71821182)x3 copy number gain See cases [RCV000239862] Chr9:71661284..71821182 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.1462C>A (p.Pro488Thr) single nucleotide variant not provided [RCV000595670] Chr9:69229192 [GRCh38]
Chr9:71844108 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1063G>C (p.Gly355Arg) single nucleotide variant not provided [RCV000968148]|not specified [RCV000248649] Chr9:69226028 [GRCh38]
Chr9:71840944 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1057-17A>G single nucleotide variant not provided [RCV002058175]|not specified [RCV000244290] Chr9:69226005 [GRCh38]
Chr9:71840921 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) single nucleotide variant not provided [RCV000727015]|not specified [RCV000249306] Chr9:69252865 [GRCh38]
Chr9:71867781 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.-16G>T single nucleotide variant not provided [RCV001582864]|not specified [RCV000252498] Chr9:69174357 [GRCh38]
Chr9:71789273 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2275+16T>G single nucleotide variant not provided [RCV001683048]|not specified [RCV000242979] Chr9:69237989 [GRCh38]
Chr9:71852905 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.239+14del deletion not provided [RCV002058176]|not specified [RCV000250508] Chr9:69216475 [GRCh38]
Chr9:71831391 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.1672-20C>G single nucleotide variant not provided [RCV001707590]|not specified [RCV000253104] Chr9:69234419 [GRCh38]
Chr9:71849335 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2992-19G>A single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838581]|Hypercholanemia, familial 1 [RCV001838580]|not provided [RCV001610652]|not specified [RCV000253272] Chr9:69251016 [GRCh38]
Chr9:69251016..69251017 [GRCh38]
Chr9:71865932 [GRCh37]
Chr9:71865932..71865933 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2937C>T (p.Ser979=) single nucleotide variant TJP2-related disorder [RCV003902442]|not provided [RCV000931461] Chr9:69249431 [GRCh38]
Chr9:71864347 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2991+8G>A single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000320431] Chr9:69249493 [GRCh38]
Chr9:71864409 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1593C>T (p.Val531=) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000369128] Chr9:69230154 [GRCh38]
Chr9:71845070 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2275+24del deletion Nonsyndromic Hearing Loss, Dominant [RCV000285063] Chr9:69237989 [GRCh38]
Chr9:71852905 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2028A>G (p.Arg676=) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000373513] Chr9:69236985 [GRCh38]
Chr9:71851901 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.*370G>C single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000399700] Chr9:69254744 [GRCh38]
Chr9:71869660 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.*729G>A single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000305470] Chr9:69255103 [GRCh38]
Chr9:71870019 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) single nucleotide variant TJP2-related disorder [RCV003950305]|not provided [RCV000730220] Chr9:69248119 [GRCh38]
Chr9:71863035 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.*187G>C single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000349962] Chr9:69254561 [GRCh38]
Chr9:71869477 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn) single nucleotide variant TJP2-related disorder [RCV003902441]|not provided [RCV001591040]|not specified [RCV000729192] Chr9:69221431 [GRCh38]
Chr9:71836347 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.1520+13G>A single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000307418] Chr9:69229263 [GRCh38]
Chr9:71844179 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.582C>T (p.Asp194=) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000273928] Chr9:69221126 [GRCh38]
Chr9:71836042 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.296C>T (p.Ser99Leu) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000307760] Chr9:69218313 [GRCh38]
Chr9:71833229 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1099C>T (p.Arg367Ter) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000378726] Chr9:69226064 [GRCh38]
Chr9:71840980 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.*183G>A single nucleotide variant not provided [RCV001673608] Chr9:69254557 [GRCh38]
Chr9:71869473 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.3408-6dup duplication Nonsyndromic Hearing Loss, Dominant [RCV000332418]|TJP2-related disorder [RCV003897820] Chr9:69254196..69254197 [GRCh38]
Chr9:71869112..71869113 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) single nucleotide variant Hypercholanemia, familial 1 [RCV001250044]|Hypercholanemia, familial 1 [RCV002248632]|Primary biliary cholangitis [RCV003447525]|TJP2-related disorder [RCV003897819]|not provided [RCV001850941] Chr9:69252864 [GRCh38]
Chr9:71867780 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic|uncertain significance
NM_004817.4(TJP2):c.1671+18_1671+19del microsatellite Nonsyndromic Hearing Loss, Dominant [RCV000277050] Chr9:69230248..69230249 [GRCh38]
Chr9:71845164..71845165 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+11G>T single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000406016] Chr9:69248235 [GRCh38]
Chr9:71863151 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1093G>A (p.Asp365Asn) single nucleotide variant not provided [RCV002575329] Chr9:69226058 [GRCh38]
Chr9:71840974 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.*633A>G single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000335909] Chr9:69255007 [GRCh38]
Chr9:71869923 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2992-11G>T single nucleotide variant not provided [RCV002589401] Chr9:69251024 [GRCh38]
Chr9:71865940 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000384766]|TJP2-related disorder [RCV003957873]|not provided [RCV000922135] Chr9:69239965 [GRCh38]
Chr9:71854881 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.*695G>C single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000406844] Chr9:69255069 [GRCh38]
Chr9:71869985 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.*620A>T single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000278549] Chr9:69254994 [GRCh38]
Chr9:71869910 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) single nucleotide variant Hearing impairment [RCV001375402]|Nonsyndromic Hearing Loss, Dominant [RCV000359813]|TJP2-related disorder [RCV003430975]|not provided [RCV001764339] Chr9:69249403 [GRCh38]
Chr9:71864319 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) single nucleotide variant Hypercholanemia, familial 1 [RCV004725195]|not provided [RCV000729969] Chr9:69236207 [GRCh38]
Chr9:71851123 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.508A>G (p.Ser170Gly) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000386975] Chr9:69221052 [GRCh38]
Chr9:71835968 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) single nucleotide variant TJP2-related disorder [RCV003416555]|not provided [RCV001891345] Chr9:69226167 [GRCh38]
Chr9:71841083 [GRCh37]
Chr9:9q21.11		 likely pathogenic|uncertain significance
NM_004817.4(TJP2):c.2897G>A (p.Ser966Asn) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000298263] Chr9:69249391 [GRCh38]
Chr9:71864307 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.773A>T (p.Asp258Val) single nucleotide variant Nonsyndromic Hearing Loss, Dominant [RCV000319723] Chr9:69221317 [GRCh38]
Chr9:71836233 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1561G>A (p.Val521Met) single nucleotide variant Inborn genetic diseases [RCV004021250]|not provided [RCV000270854] Chr9:69230122 [GRCh38]
Chr9:71845038 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.568G>A (p.Asp190Asn) single nucleotide variant not provided [RCV000338553] Chr9:69221112 [GRCh38]
Chr9:71836028 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) single nucleotide variant not provided [RCV000372974] Chr9:69236065 [GRCh38]
Chr9:71850981 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2963C>T (p.Pro988Leu) single nucleotide variant not provided [RCV000375836] Chr9:69249457 [GRCh38]
Chr9:71864373 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.19C>T (p.Arg7Cys) single nucleotide variant not provided [RCV000377916] Chr9:69174391 [GRCh38]
Chr9:71789307 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2851C>T (p.Arg951Cys) single nucleotide variant Inborn genetic diseases [RCV002521983]|not provided [RCV000309453] Chr9:69248195 [GRCh38]
Chr9:71863111 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) single nucleotide variant Inborn genetic diseases [RCV003165722]|TJP2-related disorder [RCV003977732]|not provided [RCV000342641] Chr9:69220939 [GRCh38]
Chr9:71835855 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.655C>T (p.Arg219Trp) single nucleotide variant not provided [RCV000279815] Chr9:69221199 [GRCh38]
Chr9:71836115 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.375C>T (p.Ala125=) single nucleotide variant not provided [RCV001564225]|not specified [RCV000281151] Chr9:69220919 [GRCh38]
Chr9:71835835 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) single nucleotide variant TJP2-related disorder [RCV003930139]|not provided [RCV000281503] Chr9:69221455 [GRCh38]
Chr9:71836371 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) duplication Cholestasis, progressive familial intrahepatic, 4 [RCV000984952]|not provided [RCV000339498] Chr9:69221112..69221113 [GRCh38]
Chr9:71836028..71836029 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.258C>T (p.Val86=) single nucleotide variant not provided [RCV000317750] Chr9:69218275 [GRCh38]
Chr9:71833191 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1520+6T>C single nucleotide variant TJP2-related disorder [RCV004751445]|not provided [RCV000318654] Chr9:69229256 [GRCh38]
Chr9:71844172 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) single nucleotide variant not provided [RCV000347898] Chr9:69234464 [GRCh38]
Chr9:71849380 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.812G>A (p.Arg271His) single nucleotide variant not provided [RCV000287567] Chr9:69221356 [GRCh38]
Chr9:71836272 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) single nucleotide variant not provided [RCV000321640] Chr9:69237937 [GRCh38]
Chr9:71852853 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1953G>T (p.Gly651=) single nucleotide variant TJP2-related disorder [RCV004751440]|not provided [RCV000323325] Chr9:69236200 [GRCh38]
Chr9:71851116 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) single nucleotide variant Hypercholanemia, familial 1 [RCV002494889]|Inborn genetic diseases [RCV002519330]|not provided [RCV000358685] Chr9:69248135 [GRCh38]
Chr9:71863051 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.577C>A (p.Arg193=) single nucleotide variant not provided [RCV000395622] Chr9:69221121 [GRCh38]
Chr9:71836037 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.705G>T (p.Arg235=) single nucleotide variant not provided [RCV000359543] Chr9:69221249 [GRCh38]
Chr9:71836165 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.498dup (p.Arg167fs) duplication not provided [RCV000398816] Chr9:69221036..69221037 [GRCh38]
Chr9:71835952..71835953 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2880+17C>T single nucleotide variant TJP2-related disorder [RCV003967803]|not provided [RCV000328218] Chr9:69248241 [GRCh38]
Chr9:71863157 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.410A>T (p.Asp137Val) single nucleotide variant not provided [RCV000363029] Chr9:69220954 [GRCh38]
Chr9:71835870 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3432A>G (p.Lys1144=) single nucleotide variant not provided [RCV000401633] Chr9:69254233 [GRCh38]
Chr9:71869149 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) microsatellite TJP2-related disorder [RCV003920160]|not provided [RCV000267156] Chr9:69221393..69221394 [GRCh38]
Chr9:71836309..71836310 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) single nucleotide variant Inborn genetic diseases [RCV004678664]|TJP2-related disorder [RCV003957494]|not provided [RCV000333360] Chr9:69221452 [GRCh38]
Chr9:71836368 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) single nucleotide variant not provided [RCV000367000] Chr9:69229203 [GRCh38]
Chr9:71844119 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.919G>A (p.Gly307Arg) single nucleotide variant not provided [RCV000301077] Chr9:69221463 [GRCh38]
Chr9:71836379 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.215G>C (p.Gly72Ala) single nucleotide variant not provided [RCV000597068] Chr9:69216439 [GRCh38]
Chr9:71831355 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2546C>G (p.Thr849Arg) single nucleotide variant not provided [RCV000597809] Chr9:69240127 [GRCh38]
Chr9:71855043 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.782del (p.Tyr261fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV003492118]|not provided [RCV000598162] Chr9:69221326 [GRCh38]
Chr9:71836242 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1100G>A (p.Arg367Gln) single nucleotide variant not provided [RCV000594626] Chr9:69226065 [GRCh38]
Chr9:71840981 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1780+1G>T single nucleotide variant not provided [RCV000595149] Chr9:69234548 [GRCh38]
Chr9:71849464 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) single nucleotide variant not provided [RCV000595529] Chr9:69238768 [GRCh38]
Chr9:71853684 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) single nucleotide variant not provided [RCV000596378] Chr9:69240038 [GRCh38]
Chr9:71854954 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1057-9T>A single nucleotide variant not provided [RCV000596698] Chr9:69226013 [GRCh38]
Chr9:71840929 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1235G>A (p.Arg412Gln) single nucleotide variant not provided [RCV000596767] Chr9:69227789 [GRCh38]
Chr9:71842705 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.-5C>T single nucleotide variant not provided [RCV000596977] Chr9:69174368 [GRCh38]
Chr9:71789284 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1056+2T>C single nucleotide variant Hypercholanemia, familial 1 [RCV000763622]|TJP2-related disorder [RCV003900292]|not provided [RCV000579219] Chr9:69225409 [GRCh38]
Chr9:71840325 [GRCh37]
Chr9:9q21.11		 likely pathogenic|uncertain significance
NM_004817.4(TJP2):c.2954A>G (p.Asn985Ser) single nucleotide variant not provided [RCV001760687] Chr9:69249448 [GRCh38]
Chr9:71864364 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) single nucleotide variant TJP2-related disorder [RCV004751608]|not provided [RCV000591708] Chr9:69248176 [GRCh38]
Chr9:71863092 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1571G>A (p.Arg524Gln) single nucleotide variant not provided [RCV000730104] Chr9:69230132 [GRCh38]
Chr9:71845048 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1671+8C>T single nucleotide variant not provided [RCV000730121] Chr9:69230240 [GRCh38]
Chr9:71845156 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7279del deletion not provided [RCV000592303] Chr9:69205266 [GRCh38]
Chr9:71820182 [GRCh37]
Chr9:9q21.11		 pathogenic|uncertain significance
NM_004817.4(TJP2):c.1035C>T (p.His345=) single nucleotide variant not provided [RCV000592349] Chr9:69225386 [GRCh38]
Chr9:71840302 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1142T>A (p.Val381Glu) single nucleotide variant Inborn genetic diseases [RCV001267100]|not provided [RCV000730454] Chr9:69226107 [GRCh38]
Chr9:71841023 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) single nucleotide variant Inborn genetic diseases [RCV001267101]|not provided [RCV000730455] Chr9:69234538 [GRCh38]
Chr9:71849454 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1923G>C (p.Lys641Asn) single nucleotide variant Inborn genetic diseases [RCV002536447]|not provided [RCV000730505] Chr9:69236170 [GRCh38]
Chr9:71851086 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1665T>C (p.Ile555=) single nucleotide variant not provided [RCV000592548] Chr9:69230226 [GRCh38]
Chr9:71845142 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1886_1900del (p.Glu629_Val633del) deletion not provided [RCV000592620] Chr9:69236131..69236145 [GRCh38]
Chr9:71851047..71851061 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7341A>G single nucleotide variant not provided [RCV000592754] Chr9:69205207 [GRCh38]
Chr9:71820123 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2948G>A (p.Arg983Lys) single nucleotide variant not provided [RCV000592900] Chr9:69249442 [GRCh38]
Chr9:71864358 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2335G>A (p.Val779Met) single nucleotide variant Inborn genetic diseases [RCV004024865]|TJP2-related disorder [RCV003915739]|not provided [RCV000592944] Chr9:69238769 [GRCh38]
Chr9:71853685 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1918G>A (p.Gly640Ser) single nucleotide variant not provided [RCV000597390] Chr9:69236165 [GRCh38]
Chr9:71851081 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) single nucleotide variant TJP2-related disorder [RCV003905528]|not provided [RCV000597867] Chr9:69248095 [GRCh38]
Chr9:71863011 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) single nucleotide variant TJP2-related disorder [RCV003915711]|not provided [RCV000598022] Chr9:69230190 [GRCh38]
Chr9:71845106 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.590_601del (p.Arg197_Ser200del) deletion not provided [RCV000599206] Chr9:69221126..69221137 [GRCh38]
Chr9:71836042..71836053 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2279C>T (p.Thr760Met) single nucleotide variant Inborn genetic diseases [RCV004024772]|not provided [RCV000593317] Chr9:69238713 [GRCh38]
Chr9:71853629 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) single nucleotide variant Hypercholanemia, familial 1 [RCV002491225]|Inborn genetic diseases [RCV003343938]|TJP2-related disorder [RCV003420048]|not provided [RCV000593360] Chr9:69252885 [GRCh38]
Chr9:71867801 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001170414.2(TJP2):c.-10G>A single nucleotide variant not provided [RCV000593570] Chr9:69151771 [GRCh38]
Chr9:71766687 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) single nucleotide variant not provided [RCV000596474] Chr9:69230217 [GRCh38]
Chr9:71845133 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.972G>T (p.Gly324=) single nucleotide variant TJP2-related disorder [RCV003983140]|not provided [RCV000593817] Chr9:69225323 [GRCh38]
Chr9:71840239 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2450C>G (p.Ser817Cys) single nucleotide variant not provided [RCV000584840] Chr9:69240031 [GRCh38]
Chr9:71854947 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.122A>G (p.Lys41Arg) single nucleotide variant not provided [RCV000591447] Chr9:69216346 [GRCh38]
Chr9:71831262 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1454-6C>T single nucleotide variant not provided [RCV000598195] Chr9:69229178 [GRCh38]
Chr9:71844094 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3067_3068delinsTT (p.Ala1023Phe) indel TJP2-related disorder [RCV003905550]|not provided [RCV000591571] Chr9:69251110..69251111 [GRCh38]
Chr9:71866026..71866027 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) single nucleotide variant not provided [RCV000730587] Chr9:69238787 [GRCh38]
Chr9:71853703 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.631C>T (p.Arg211Cys) single nucleotide variant not provided [RCV000730598] Chr9:69221175 [GRCh38]
Chr9:71836091 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) single nucleotide variant TJP2-related disorder [RCV003938107]|not provided [RCV000730657] Chr9:69251119 [GRCh38]
Chr9:71866035 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) single nucleotide variant TJP2-related disorder [RCV003965524]|not provided [RCV000730660] Chr9:69236991 [GRCh38]
Chr9:71851907 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2566G>A (p.Ala856Thr) single nucleotide variant not provided [RCV000731018] Chr9:69240147 [GRCh38]
Chr9:71855063 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) single nucleotide variant not provided [RCV000731040] Chr9:69251193 [GRCh38]
Chr9:71866109 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.115-7T>C single nucleotide variant not provided [RCV000731052] Chr9:69216332 [GRCh38]
Chr9:71831248 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2824G>A (p.Glu942Lys) single nucleotide variant Inborn genetic diseases [RCV002535250]|not provided [RCV000731989] Chr9:69248168 [GRCh38]
Chr9:71863084 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3536A>C (p.Tyr1179Ser) single nucleotide variant Inborn genetic diseases [RCV002535251]|not provided [RCV000731994] Chr9:69254337 [GRCh38]
Chr9:71869253 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) single nucleotide variant not provided [RCV000731995] Chr9:69254323 [GRCh38]
Chr9:71869239 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.333C>T (p.Val111=) single nucleotide variant not provided [RCV000732033] Chr9:69218350 [GRCh38]
Chr9:71833266 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+80G>T single nucleotide variant not provided [RCV000733793] Chr9:69248304 [GRCh38]
Chr9:71863220 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) single nucleotide variant TJP2-related disorder [RCV004751690]|not provided [RCV000734330] Chr9:69216436 [GRCh38]
Chr9:71831352 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.491A>G (p.His164Arg) single nucleotide variant not provided [RCV000728467] Chr9:69221035 [GRCh38]
Chr9:71835951 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) single nucleotide variant not provided [RCV000729610] Chr9:69229236 [GRCh38]
Chr9:71844152 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.356C>A (p.Pro119His) single nucleotide variant not provided [RCV000731176] Chr9:69220900 [GRCh38]
Chr9:71835816 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1433G>C (p.Arg478Thr) single nucleotide variant Inborn genetic diseases [RCV002536461]|not provided [RCV000731289] Chr9:69228094 [GRCh38]
Chr9:71843010 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.981C>A (p.Ile327=) single nucleotide variant TJP2-related disorder [RCV003908040]|not provided [RCV000731301] Chr9:69225332 [GRCh38]
Chr9:71840248 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.896C>A (p.Pro299His) single nucleotide variant Inborn genetic diseases [RCV004027051]|not provided [RCV000733091] Chr9:69221440 [GRCh38]
Chr9:71836356 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1475C>T (p.Pro492Leu) single nucleotide variant not provided [RCV000733845] Chr9:69229205 [GRCh38]
Chr9:71844121 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1138G>C (p.Val380Leu) single nucleotide variant not provided [RCV000734385] Chr9:69226103 [GRCh38]
Chr9:71841019 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.985G>A (p.Val329Ile) single nucleotide variant not provided [RCV000728527] Chr9:69225336 [GRCh38]
Chr9:71840252 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7308C>A single nucleotide variant not provided [RCV000730284] Chr9:69205240 [GRCh38]
Chr9:71820156 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.966G>T (p.Arg322=) single nucleotide variant not provided [RCV000733172] Chr9:69225317 [GRCh38]
Chr9:71840233 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) single nucleotide variant Hypercholanemia, familial 1 [RCV002477725]|not provided [RCV000733191] Chr9:69230137 [GRCh38]
Chr9:71845053 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.142G>A (p.Val48Met) single nucleotide variant Inborn genetic diseases [RCV004678812]|not provided [RCV000734405] Chr9:69216366 [GRCh38]
Chr9:71831282 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1243del (p.Ser415fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV000415040] Chr9:69227794 [GRCh38]
Chr9:71842710 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1018A>G (p.Lys340Glu) single nucleotide variant Inborn genetic diseases [RCV002535092]|not provided [RCV000728779] Chr9:69225369 [GRCh38]
Chr9:71840285 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1490G>A (p.Arg497His) single nucleotide variant Inborn genetic diseases [RCV003243278]|TJP2-related disorder [RCV004751685]|not provided [RCV000730400] Chr9:69229220 [GRCh38]
Chr9:71844136 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3483C>T (p.Ala1161=) single nucleotide variant not provided [RCV000731393] Chr9:69254284 [GRCh38]
Chr9:71869200 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.274C>G (p.Pro92Ala) single nucleotide variant not provided [RCV000731396] Chr9:69218291 [GRCh38]
Chr9:71833207 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2277A>C (p.Lys759Asn) single nucleotide variant Inborn genetic diseases [RCV004678808]|not provided [RCV000731429] Chr9:69238711 [GRCh38]
Chr9:71853627 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+5G>A single nucleotide variant not provided [RCV000732332] Chr9:69248229 [GRCh38]
Chr9:71863145 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.64C>G (p.Pro22Ala) single nucleotide variant not provided [RCV000734551] Chr9:69212551 [GRCh38]
Chr9:71827467 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) single nucleotide variant not provided [RCV000732434] Chr9:69251226 [GRCh38]
Chr9:71866142 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1052T>A (p.Leu351His) single nucleotide variant not provided [RCV000732489] Chr9:69225403 [GRCh38]
Chr9:71840319 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.629C>G (p.Ala210Gly) single nucleotide variant Inborn genetic diseases [RCV004027079]|TJP2-related disorder [RCV003983193]|not provided [RCV000734102] Chr9:69221173 [GRCh38]
Chr9:71836089 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) single nucleotide variant TJP2-related disorder [RCV003892676]|not provided [RCV000734731] Chr9:69240090 [GRCh38]
Chr9:71855006 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.897T>A (p.Pro299=) single nucleotide variant not provided [RCV000734735] Chr9:69221441 [GRCh38]
Chr9:71836357 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.37C>T (p.Arg13Trp) single nucleotide variant not provided [RCV000732525] Chr9:69174409 [GRCh38]
Chr9:71789325 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7267A>G single nucleotide variant TJP2-related disorder [RCV003947942]|not provided [RCV000732559] Chr9:69205281 [GRCh38]
Chr9:71820197 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.638G>A (p.Arg213Gln) single nucleotide variant not provided [RCV000733556] Chr9:69221182 [GRCh38]
Chr9:71836098 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7391A>C single nucleotide variant not provided [RCV000733564] Chr9:69205157 [GRCh38]
Chr9:71820073 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) single nucleotide variant TJP2-related disorder [RCV003908055]|not provided [RCV000734181] Chr9:69249455 [GRCh38]
Chr9:71864371 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1995T>A (p.Ala665=) single nucleotide variant not provided [RCV000732690] Chr9:69236952 [GRCh38]
Chr9:71851868 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1087T>C (p.Leu363=) single nucleotide variant not provided [RCV000733661] Chr9:69226052 [GRCh38]
Chr9:71840968 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2841G>A (p.Ser947=) single nucleotide variant not provided [RCV000734197] Chr9:69248185 [GRCh38]
Chr9:71863101 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1056+8G>C single nucleotide variant not provided [RCV000734201] Chr9:69225415 [GRCh38]
Chr9:71840331 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) single nucleotide variant TJP2-related disorder [RCV004751689]|not provided [RCV000734217] Chr9:69218351 [GRCh38]
Chr9:71833267 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.813_814del (p.Ala273fs) microsatellite Cholestasis, progressive familial intrahepatic, 4 [RCV000505572] Chr9:69221354..69221355 [GRCh38]
Chr9:71836270..71836271 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3322A>G (p.Ile1108Val) single nucleotide variant Inborn genetic diseases [RCV004026977]|not provided [RCV000729672] Chr9:69252815 [GRCh38]
Chr9:71867731 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+105G>A single nucleotide variant not provided [RCV000729757] Chr9:69248329 [GRCh38]
Chr9:71863245 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1337C>A (p.Pro446Gln) single nucleotide variant not provided [RCV000731670] Chr9:69227998 [GRCh38]
Chr9:71842914 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1211-4C>T single nucleotide variant not provided [RCV000730774] Chr9:69227761 [GRCh38]
Chr9:71842677 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.*6T>C single nucleotide variant not provided [RCV000732891] Chr9:69254380 [GRCh38]
Chr9:71869296 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-301T>C single nucleotide variant not provided [RCV001572093] Chr9:69212247 [GRCh38]
Chr9:71827163 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1273GATTAT[1] (p.425DY[1]) microsatellite not provided [RCV000729207] Chr9:69227826..69227831 [GRCh38]
Chr9:71842742..71842747 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3138del (p.Arg1047fs) deletion not provided [RCV000730791] Chr9:69251179 [GRCh38]
Chr9:71866095 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.229G>A (p.Gly77Arg) single nucleotide variant not provided [RCV000731914] Chr9:69216453 [GRCh38]
Chr9:71831369 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) single nucleotide variant TJP2-related disorder [RCV003908057]|not provided [RCV000734919] Chr9:69237968 [GRCh38]
Chr9:71852884 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1336C>A (p.Pro446Thr) single nucleotide variant not provided [RCV000731928] Chr9:69227997 [GRCh38]
Chr9:71842913 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del) deletion not provided [RCV000731003] Chr9:69227842..69227844 [GRCh38]
Chr9:71842758..71842760 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.699GGACCG[3] (p.234DR[4]) microsatellite not provided [RCV000734257] Chr9:69221239..69221240 [GRCh38]
Chr9:71836155..71836156 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.115-10T>C single nucleotide variant not provided [RCV000729458] Chr9:69216329 [GRCh38]
Chr9:71831245 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7293C>G single nucleotide variant TJP2-related disorder [RCV003392562]|not provided [RCV000729486] Chr9:69205255 [GRCh38]
Chr9:71820171 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup duplication Cholestasis, progressive familial intrahepatic, 4 [RCV000449507] Chr9:69220886..69240148 [GRCh38]
Chr9:71835802..71855064 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000449597]|TJP2-related disorder [RCV003422418] Chr9:69226175 [GRCh38]
Chr9:71841091 [GRCh37]
Chr9:9q21.11		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11(chr9:71599176-71849431)x3 copy number gain See cases [RCV000448375] Chr9:71599176..71849431 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter) single nucleotide variant not provided [RCV000498891] Chr9:69246755 [GRCh38]
Chr9:71861671 [GRCh37]
Chr9:9q21.11		 likely pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71515614-71991318)x3 copy number gain See cases [RCV000511272] Chr9:71515614..71991318 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71395537-71967664)x3 copy number gain See cases [RCV000511186] Chr9:71395537..71967664 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) single nucleotide variant Hypercholanemia, familial 1 [RCV002476311]|not provided [RCV000595631] Chr9:69230192 [GRCh38]
Chr9:71845108 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) single nucleotide variant TJP2-related disorder [RCV003962729]|not provided [RCV000594535]|not specified [RCV001662645] Chr9:69252898 [GRCh38]
Chr9:71867814 [GRCh37]
Chr9:9q21.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.630G>A (p.Ala210=) single nucleotide variant not provided [RCV000596544] Chr9:69221174 [GRCh38]
Chr9:71836090 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+40G>A single nucleotide variant not provided [RCV000595116] Chr9:69248264 [GRCh38]
Chr9:71863180 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr) single nucleotide variant Inborn genetic diseases [RCV003288737]|TJP2-related disorder [RCV004750886]|not provided [RCV003313328] Chr9:69236984 [GRCh38]
Chr9:71851900 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.2962C>T (p.Pro988Ser) single nucleotide variant not provided [RCV000594021] Chr9:69249456 [GRCh38]
Chr9:71864372 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2297G>T (p.Gly766Val) single nucleotide variant Inborn genetic diseases [RCV002532425]|not provided [RCV000594683] Chr9:69238731 [GRCh38]
Chr9:71853647 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1625C>T (p.Thr542Ile) single nucleotide variant Inborn genetic diseases [RCV003286206] Chr9:69230186 [GRCh38]
Chr9:71845102 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.474G>A (p.Arg158=) single nucleotide variant not provided [RCV000594787] Chr9:69221018 [GRCh38]
Chr9:71835934 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_004817.4(TJP2):c.412C>T (p.Arg138Trp) single nucleotide variant Inborn genetic diseases [RCV003272002] Chr9:69220956 [GRCh38]
Chr9:71835872 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 51 [RCV004584766]|not provided [RCV000594655] Chr9:69248070 [GRCh38]
Chr9:71862986 [GRCh37]
Chr9:9q21.11		 likely pathogenic|uncertain significance
NM_004817.4(TJP2):c.1909C>T (p.Leu637=) single nucleotide variant not provided [RCV000594846] Chr9:69236156 [GRCh38]
Chr9:71851072 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3225C>T (p.Pro1075=) single nucleotide variant TJP2-related disorder [RCV003917942]|not provided [RCV002065441]|not specified [RCV000608475] Chr9:69251268 [GRCh38]
Chr9:71866184 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1005G>A (p.Thr335=) single nucleotide variant TJP2-related disorder [RCV003953048]|not provided [RCV000916236] Chr9:69225356 [GRCh38]
Chr9:71840272 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.-26G>A single nucleotide variant not specified [RCV000603693] Chr9:69174347 [GRCh38]
Chr9:71789263 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1		 pathogenic
NM_004817.4(TJP2):c.1451del (p.Pro484fs) deletion not provided [RCV000593956] Chr9:69228107 [GRCh38]
Chr9:71843023 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln) single nucleotide variant not provided [RCV000512776] Chr9:69251183 [GRCh38]
Chr9:71866099 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3140G>C (p.Arg1047Pro) single nucleotide variant Inborn genetic diseases [RCV003160055]|TJP2-related disorder [RCV004751624]|not provided [RCV000596417] Chr9:69251183 [GRCh38]
Chr9:71866099 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) single nucleotide variant TJP2-related disorder [RCV003980110]|not provided [RCV000597729] Chr9:69221392 [GRCh38]
Chr9:71836308 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele duplication not provided [RCV000677946] Chr9:71606365..71821182 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
NM_004817.4(TJP2):c.2276-161G>C single nucleotide variant not provided [RCV001546723] Chr9:69238549 [GRCh38]
Chr9:71853465 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2356-49A>G single nucleotide variant not provided [RCV001566459] Chr9:69239888 [GRCh38]
Chr9:71854804 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9q21.11(chr9:71741320-71746253)x0 copy number loss not provided [RCV000748458] Chr9:71741320..71746253 [GRCh37]
Chr9:9q21.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.3(TJP2):c.-133C>T single nucleotide variant not provided [RCV001692720] Chr9:69174240 [GRCh38]
Chr9:71789156 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1157del (p.Gln386fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV001564054] Chr9:69226122 [GRCh38]
Chr9:71841038 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2493G>A (p.Thr831=) single nucleotide variant not provided [RCV000916928] Chr9:69240074 [GRCh38]
Chr9:71854990 [GRCh37]
Chr9:9q21.11		 likely benign
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
NM_004817.4(TJP2):c.1211-290C>T single nucleotide variant not provided [RCV001679669] Chr9:69227475 [GRCh38]
Chr9:71842391 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1430C>A (p.Pro477His) single nucleotide variant not provided [RCV001571484] Chr9:69228091 [GRCh38]
Chr9:71843007 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-6929A>G single nucleotide variant not provided [RCV001576784] Chr9:69205619 [GRCh38]
Chr9:71820535 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1991+54A>G single nucleotide variant not provided [RCV001691439] Chr9:69236292 [GRCh38]
Chr9:71851208 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000855542] Chr9:69225351 [GRCh38]
Chr9:71840267 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.240-231C>T single nucleotide variant not provided [RCV001547367] Chr9:69218026 [GRCh38]
Chr9:71832942 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2668-34G>A single nucleotide variant not provided [RCV001552133] Chr9:69247978 [GRCh38]
Chr9:71862894 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3408-99C>T single nucleotide variant not provided [RCV001689438] Chr9:69254110 [GRCh38]
Chr9:71869026 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.952+74del deletion not provided [RCV001548085] Chr9:69221560 [GRCh38]
Chr9:71836476 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2209G>A (p.Gly737Ser) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993655]|Melnick-Fraser syndrome [RCV001375126] Chr9:69237907 [GRCh38]
Chr9:71852823 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993661] Chr9:69227788 [GRCh38]
Chr9:71842704 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3450T>C (p.Tyr1150=) single nucleotide variant not provided [RCV000901753] Chr9:69254251 [GRCh38]
Chr9:71869167 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2553A>C (p.Ala851=) single nucleotide variant not provided [RCV000880417] Chr9:69240134 [GRCh38]
Chr9:71855050 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs) deletion not provided [RCV001042122] Chr9:69228098..69228114 [GRCh38]
Chr9:71843014..71843030 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1885dup (p.Glu629fs) duplication not provided [RCV001047644] Chr9:69236128..69236129 [GRCh38]
Chr9:71851044..71851045 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3322-2A>C single nucleotide variant not provided [RCV001558062] Chr9:69252813 [GRCh38]
Chr9:71867729 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993663]|Hypercholanemia, familial 1 [RCV003987702] Chr9:69236141 [GRCh38]
Chr9:71851057 [GRCh37]
Chr9:9q21.11		 pathogenic|uncertain significance
NM_004817.4(TJP2):c.1337C>T (p.Pro446Leu) single nucleotide variant Inborn genetic diseases [RCV003270253] Chr9:69227998 [GRCh38]
Chr9:71842914 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7A>G single nucleotide variant not provided [RCV000839976] Chr9:69212541 [GRCh38]
Chr9:71827457 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1056+73C>A single nucleotide variant not provided [RCV000842820] Chr9:69225480 [GRCh38]
Chr9:71840396 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.3407+45A>G single nucleotide variant not provided [RCV000842882] Chr9:69252945 [GRCh38]
Chr9:71867861 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993657] Chr9:69227846 [GRCh38]
Chr9:71842762 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1557C>T (p.Asp519=) single nucleotide variant not provided [RCV000827230] Chr9:69230118 [GRCh38]
Chr9:71845034 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9q21.11(chr9:71415902-71996013)x3 copy number gain not provided [RCV000848744] Chr9:71415902..71996013 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71415902-71971195)x3 copy number gain not provided [RCV000847541] Chr9:71415902..71971195 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993656] Chr9:69249402 [GRCh38]
Chr9:71864318 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.115-2A>C single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993662] Chr9:69216337 [GRCh38]
Chr9:71831253 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1780+78G>C single nucleotide variant not provided [RCV000842881] Chr9:69234625 [GRCh38]
Chr9:71849541 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.60+39CGTGAG[3] microsatellite not provided [RCV000842943] Chr9:69174470..69174471 [GRCh38]
Chr9:71789386..71789387 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu) single nucleotide variant Inborn genetic diseases [RCV004030160]|not provided [RCV000993328] Chr9:69254301 [GRCh38]
Chr9:71869217 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71458419-71776105)x3 copy number gain not provided [RCV000846063] Chr9:71458419..71776105 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2180-5T>G single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993658] Chr9:69237873 [GRCh38]
Chr9:71852789 [GRCh37]
Chr9:9q21.11		 likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993652] Chr9:69216460 [GRCh38]
Chr9:71831376 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993653] Chr9:69230135 [GRCh38]
Chr9:71845051 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.1672-1G>A single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993654] Chr9:69234438 [GRCh38]
Chr9:71849354 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh37/hg19 9q21.11(chr9:71533382-71987060)x3 copy number gain not provided [RCV000846790] Chr9:71533382..71987060 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1053C>T (p.Leu351=) single nucleotide variant not provided [RCV001564179] Chr9:69225404 [GRCh38]
Chr9:71840320 [GRCh37]
Chr9:9q21.11		 likely benign
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_004817.4(TJP2):c.1776C>T (p.Ala592=) single nucleotide variant TJP2-related disorder [RCV003900931]|not provided [RCV003104430] Chr9:69234543 [GRCh38]
Chr9:71849459 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1671+110C>G single nucleotide variant not provided [RCV001544627] Chr9:69230342 [GRCh38]
Chr9:71845258 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2880+136G>C single nucleotide variant not provided [RCV001568566] Chr9:69248360 [GRCh38]
Chr9:71863276 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.239+16C>T single nucleotide variant not provided [RCV001572053] Chr9:69216479 [GRCh38]
Chr9:71831395 [GRCh37]
Chr9:9q21.11		 benign|likely benign
NM_004817.4(TJP2):c.2356-229G>A single nucleotide variant not provided [RCV001581605] Chr9:69239708 [GRCh38]
Chr9:71854624 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1672-28_1672-27dup duplication not provided [RCV001577360] Chr9:69234398..69234399 [GRCh38]
Chr9:71849314..71849315 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1197C>T (p.Asp399=) single nucleotide variant not provided [RCV001567896] Chr9:69226162 [GRCh38]
Chr9:71841078 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.120del (p.Arg42fs) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV004556896] Chr9:69216343 [GRCh38]
Chr9:71831259 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.3(TJP2):c.-185G>A single nucleotide variant not provided [RCV001657341] Chr9:69174188 [GRCh38]
Chr9:71789104 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.342+111C>T single nucleotide variant not provided [RCV001553410] Chr9:69218470 [GRCh38]
Chr9:71833386 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.638G>T (p.Arg213Leu) single nucleotide variant Inborn genetic diseases [RCV002573323]|not provided [RCV001583753] Chr9:69221182 [GRCh38]
Chr9:71836098 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_001170414.2(TJP2):c.-10+22063G>A single nucleotide variant not provided [RCV001555500] Chr9:69173834 [GRCh38]
Chr9:71788750 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2180-34G>A single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001838712]|Hypercholanemia, familial 1 [RCV001838711]|not provided [RCV001617963] Chr9:69237844 [GRCh38]
Chr9:71852760 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1781-115G>A single nucleotide variant not provided [RCV001671955] Chr9:69235913 [GRCh38]
Chr9:71850829 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1991+117C>T single nucleotide variant not provided [RCV001713960] Chr9:69236355 [GRCh38]
Chr9:71851271 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1780+303C>T single nucleotide variant not provided [RCV001612593] Chr9:69234850 [GRCh38]
Chr9:71849766 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1520+184G>A single nucleotide variant not provided [RCV001556571] Chr9:69229434 [GRCh38]
Chr9:71844350 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2356-126C>G single nucleotide variant not provided [RCV001649475] Chr9:69239811 [GRCh38]
Chr9:71854727 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.61-7692T>C single nucleotide variant not provided [RCV001663270] Chr9:69204856 [GRCh38]
Chr9:71819772 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.61-7416G>A single nucleotide variant not provided [RCV001562135] Chr9:69205132 [GRCh38]
Chr9:71820048 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2180-275_2180-274insGTAGGAGGATCGCTTGAG insertion not provided [RCV001669622] Chr9:69237596..69237597 [GRCh38]
Chr9:71852512..71852513 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2668-30C>T single nucleotide variant not provided [RCV001589595] Chr9:69247982 [GRCh38]
Chr9:71862898 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3407+33C>T single nucleotide variant not provided [RCV001557936] Chr9:69252933 [GRCh38]
Chr9:71867849 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1211-302A>T single nucleotide variant not provided [RCV001613865] Chr9:69227463 [GRCh38]
Chr9:71842379 [GRCh37]
Chr9:9q21.11		 benign
NM_001170414.2(TJP2):c.-10+22244C>T single nucleotide variant not provided [RCV001589712] Chr9:69174015 [GRCh38]
Chr9:71788931 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) single nucleotide variant Hypercholanemia, familial 1 [RCV002476891]|not provided [RCV001589719] Chr9:69237038 [GRCh38]
Chr9:71851954 [GRCh37]
Chr9:9q21.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.1991+261G>A single nucleotide variant not provided [RCV001614163] Chr9:69236499 [GRCh38]
Chr9:71851415 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.342+102C>T single nucleotide variant not provided [RCV001657598] Chr9:69218461 [GRCh38]
Chr9:71833377 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.343-117T>C single nucleotide variant not provided [RCV001546543] Chr9:69220770 [GRCh38]
Chr9:71835686 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2276-171G>A single nucleotide variant not provided [RCV001587799] Chr9:69238539 [GRCh38]
Chr9:71853455 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.114+101T>C single nucleotide variant not provided [RCV001611871] Chr9:69212702 [GRCh38]
Chr9:71827618 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.303A>G (p.Ala101=) single nucleotide variant not provided [RCV000932374] Chr9:69218320 [GRCh38]
Chr9:71833236 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1713C>A (p.Ala571=) single nucleotide variant not provided [RCV000931110] Chr9:69234480 [GRCh38]
Chr9:71849396 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) deletion Cholestasis, progressive familial intrahepatic, 4 [RCV001250179] Chr9:69238760 [GRCh38]
Chr9:71853676 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.115-1G>A single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993659] Chr9:69216338 [GRCh38]
Chr9:71831254 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV000993660] Chr9:69237130 [GRCh38]
Chr9:71852046 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2567-342C>T single nucleotide variant not provided [RCV001551265] Chr9:69246348 [GRCh38]
Chr9:71861264 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2991+20A>G single nucleotide variant not provided [RCV002681096] Chr9:69249505 [GRCh38]
Chr9:71864421 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2667+29G>C single nucleotide variant not provided [RCV001563207] Chr9:69246819 [GRCh38]
Chr9:71861735 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2992-116G>A single nucleotide variant not provided [RCV001598039] Chr9:69250919 [GRCh38]
Chr9:71865835 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1781-188A>G single nucleotide variant not provided [RCV001563542] Chr9:69235840 [GRCh38]
Chr9:71850756 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.952+52T>C single nucleotide variant not provided [RCV001559450] Chr9:69221548 [GRCh38]
Chr9:71836464 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1671+181A>G single nucleotide variant not provided [RCV001559720] Chr9:69230413 [GRCh38]
Chr9:71845329 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2668-89G>A single nucleotide variant not provided [RCV001568690] Chr9:69247923 [GRCh38]
Chr9:71862839 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1817C>T (p.Ser606Leu) single nucleotide variant not provided [RCV001658942] Chr9:69236064 [GRCh38]
Chr9:71850980 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-7456A>G single nucleotide variant not provided [RCV001595389] Chr9:69205092 [GRCh38]
Chr9:71820008 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1672-67_1672-66dup duplication not provided [RCV001592006] Chr9:69234367..69234368 [GRCh38]
Chr9:71849283..71849284 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2356-115AAAC[3] microsatellite not provided [RCV001713616] Chr9:69239822..69239825 [GRCh38]
Chr9:71854738..71854741 [GRCh37]
Chr9:9q21.11		 benign
NM_001170414.2(TJP2):c.-10+22262C>A single nucleotide variant not provided [RCV001659325] Chr9:69174033 [GRCh38]
Chr9:71788949 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1210+243T>C single nucleotide variant not provided [RCV001527999] Chr9:69226418 [GRCh38]
Chr9:71841334 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1672-68TTTC[9] microsatellite not provided [RCV001597710] Chr9:69234370..69234371 [GRCh38]
Chr9:71849286..71849287 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.3321+162C>T single nucleotide variant not provided [RCV001720886] Chr9:69251526 [GRCh38]
Chr9:71866442 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.953-295G>C single nucleotide variant not provided [RCV001678184] Chr9:69225009 [GRCh38]
Chr9:71839925 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.343-28G>A single nucleotide variant not provided [RCV001596339] Chr9:69220859 [GRCh38]
Chr9:71835775 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2668-90C>T single nucleotide variant not provided [RCV001596377] Chr9:69247922 [GRCh38]
Chr9:71862838 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.953-175T>G single nucleotide variant not provided [RCV001617474] Chr9:69225129 [GRCh38]
Chr9:71840045 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2667+139A>G single nucleotide variant not provided [RCV001595742] Chr9:69246929 [GRCh38]
Chr9:71861845 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2668-271A>T single nucleotide variant not provided [RCV001637907] Chr9:69247741 [GRCh38]
Chr9:71862657 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2566+207A>G single nucleotide variant not provided [RCV001594704] Chr9:69240354 [GRCh38]
Chr9:71855270 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1780+55A>T single nucleotide variant not provided [RCV001614988] Chr9:69234602 [GRCh38]
Chr9:71849518 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.61-7801G>T single nucleotide variant not provided [RCV001687379] Chr9:69204747 [GRCh38]
Chr9:71819663 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2356-84C>G single nucleotide variant not provided [RCV001677232] Chr9:69239853 [GRCh38]
Chr9:71854769 [GRCh37]
Chr9:9q21.11		 benign
9q21.11 duplication duplication Autosomal dominant nonsyndromic hearing loss 51 [RCV001004809] Chr9:9q21.11 pathogenic
NM_004817.4(TJP2):c.2566+59G>A single nucleotide variant not provided [RCV001541721] Chr9:69240206 [GRCh38]
Chr9:71855122 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2668-249G>A single nucleotide variant not provided [RCV001586550] Chr9:69247763 [GRCh38]
Chr9:71862679 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1672-183C>G single nucleotide variant not provided [RCV001611731] Chr9:69234256 [GRCh38]
Chr9:71849172 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.952+39A>G single nucleotide variant not provided [RCV001671447] Chr9:69221535 [GRCh38]
Chr9:71836451 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.239+173dup duplication not provided [RCV001708627] Chr9:69216635..69216636 [GRCh38]
Chr9:71831551..71831552 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1672-27del deletion Cholestasis, progressive familial intrahepatic, 4 [RCV001838798]|Hypercholanemia, familial 1 [RCV001838797]|not provided [RCV001691552] Chr9:69234399 [GRCh38]
Chr9:71849315 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.952+160T>C single nucleotide variant not provided [RCV001670221] Chr9:69221656 [GRCh38]
Chr9:71836572 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1672-68TTTC[8] microsatellite not provided [RCV001610216] Chr9:69234370..69234371 [GRCh38]
Chr9:71849286..71849287 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1780+318C>T single nucleotide variant not provided [RCV001590121] Chr9:69234865 [GRCh38]
Chr9:71849781 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1672-68TTTC[6] microsatellite not provided [RCV001696131] Chr9:69234371..69234374 [GRCh38]
Chr9:71849287..71849290 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2668-111C>A single nucleotide variant not provided [RCV001709147] Chr9:69247901 [GRCh38]
Chr9:71862817 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1781-91G>A single nucleotide variant not provided [RCV001691757] Chr9:69235937 [GRCh38]
Chr9:71850853 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1056+155A>T single nucleotide variant not provided [RCV001690760] Chr9:69225562 [GRCh38]
Chr9:71840478 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001706957]|not provided [RCV002466689] Chr9:69230155 [GRCh38]
Chr9:71845071 [GRCh37]
Chr9:9q21.11		 pathogenic|uncertain significance
NM_004817.4(TJP2):c.115-229C>A single nucleotide variant not provided [RCV001694931] Chr9:69216110 [GRCh38]
Chr9:71831026 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs) duplication Cholestasis, progressive familial intrahepatic, 4 [RCV001706958] Chr9:69246766..69246767 [GRCh38]
Chr9:71861682..71861683 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.115-94T>G single nucleotide variant not provided [RCV001679624] Chr9:69216245 [GRCh38]
Chr9:71831161 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.239+1G>A single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV001250178] Chr9:69216464 [GRCh38]
Chr9:71831380 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.115-304G>A single nucleotide variant not provided [RCV001545660] Chr9:69216035 [GRCh38]
Chr9:71830951 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2355+1G>T single nucleotide variant not provided [RCV001268656] Chr9:69238790 [GRCh38]
Chr9:71853706 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.3407+22C>G single nucleotide variant not provided [RCV001581205] Chr9:69252922 [GRCh38]
Chr9:71867838 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.343-4A>G single nucleotide variant not provided [RCV001311781] Chr9:69220883 [GRCh38]
Chr9:71835799 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.659G>T (p.Ser220Ile) single nucleotide variant Hypercholanemia, familial 1 [RCV001332518] Chr9:69221203 [GRCh38]
Chr9:71836119 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.61-6972G>C single nucleotide variant not provided [RCV001538735] Chr9:69205576 [GRCh38]
Chr9:71820492 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser) single nucleotide variant Hearing impairment [RCV001375071]|not provided [RCV001762658] Chr9:69248052 [GRCh38]
Chr9:71862968 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+8G>A single nucleotide variant not provided [RCV001812317] Chr9:69248232 [GRCh38]
Chr9:71863148 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2426T>C (p.Ile809Thr) single nucleotide variant Inborn genetic diseases [RCV003355844]|not provided [RCV002284613] Chr9:69240007 [GRCh38]
Chr9:71854923 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.85T>C (p.Trp29Arg) single nucleotide variant Hearing impairment [RCV001375453] Chr9:69212572 [GRCh38]
Chr9:71827488 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer) deletion not provided [RCV001389439] Chr9:69221008..69221017 [GRCh38]
Chr9:71835924..71835933 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1884G>A (p.Gly628=) single nucleotide variant not provided [RCV001532162] Chr9:69236131 [GRCh38]
Chr9:71851047 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2880+223C>T single nucleotide variant not provided [RCV001711009] Chr9:69248447 [GRCh38]
Chr9:71863363 [GRCh37]
Chr9:9q21.11		 benign
NM_001170414.2(TJP2):c.-10+22220G>A single nucleotide variant not provided [RCV001688554] Chr9:69173991 [GRCh38]
Chr9:71788907 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2179+152A>G single nucleotide variant not provided [RCV001644054] Chr9:69237288 [GRCh38]
Chr9:71852204 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1672-295A>G single nucleotide variant not provided [RCV001591446] Chr9:69234144 [GRCh38]
Chr9:71849060 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2180-47C>T single nucleotide variant not provided [RCV001669721] Chr9:69237831 [GRCh38]
Chr9:71852747 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1056+167T>C single nucleotide variant not provided [RCV001591974] Chr9:69225574 [GRCh38]
Chr9:71840490 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.952+319G>A single nucleotide variant not provided [RCV001685956] Chr9:69221815 [GRCh38]
Chr9:71836731 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1454-193dup duplication not provided [RCV001696555] Chr9:69228990..69228991 [GRCh38]
Chr9:71843906..71843907 [GRCh37]
Chr9:9q21.11		 benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) microsatellite Cholestasis, progressive familial intrahepatic, 4 [RCV001728086] Chr9:69254285..69254287 [GRCh38]
Chr9:71869201..71869203 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71746056-72142061)x3 copy number gain not provided [RCV001834386] Chr9:71746056..72142061 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2991+1_2991+2dup duplication not provided [RCV001770599] Chr9:69249485..69249486 [GRCh38]
Chr9:71864401..71864402 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.821G>A (p.Arg274His) single nucleotide variant Inborn genetic diseases [RCV003163868]|not provided [RCV001758416] Chr9:69221365 [GRCh38]
Chr9:71836281 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2645C>T (p.Ala882Val) single nucleotide variant not provided [RCV001754626] Chr9:69246768 [GRCh38]
Chr9:71861684 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.720C>A (p.Ser240Arg) single nucleotide variant not provided [RCV001772621] Chr9:69221264 [GRCh38]
Chr9:71836180 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2749C>T (p.Arg917Cys) single nucleotide variant not provided [RCV001754358] Chr9:69248093 [GRCh38]
Chr9:71863009 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.984C>T (p.Phe328=) single nucleotide variant not provided [RCV001767202] Chr9:69225335 [GRCh38]
Chr9:71840251 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2884A>G (p.Ile962Val) single nucleotide variant not provided [RCV001767266] Chr9:69249378 [GRCh38]
Chr9:71864294 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2645C>A (p.Ala882Glu) single nucleotide variant not provided [RCV001773224] Chr9:69246768 [GRCh38]
Chr9:71861684 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.356C>T (p.Pro119Leu) single nucleotide variant not provided [RCV001773800] Chr9:69220900 [GRCh38]
Chr9:71835816 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.877C>T (p.Arg293Trp) single nucleotide variant not provided [RCV001752727] Chr9:69221421 [GRCh38]
Chr9:71836337 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.849A>C (p.Arg283=) single nucleotide variant not provided [RCV001732994] Chr9:69221393 [GRCh38]
Chr9:71836309 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2774C>T (p.Thr925Met) single nucleotide variant not provided [RCV001772458] Chr9:69248118 [GRCh38]
Chr9:71863034 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.190A>G (p.Ile64Val) single nucleotide variant not provided [RCV001768508] Chr9:69216414 [GRCh38]
Chr9:71831330 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3325G>A (p.Glu1109Lys) single nucleotide variant not provided [RCV001772964] Chr9:69252818 [GRCh38]
Chr9:71867734 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1028A>G (p.Asn343Ser) single nucleotide variant not provided [RCV001767663] Chr9:69225379 [GRCh38]
Chr9:71840295 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.607C>T (p.Arg203Trp) single nucleotide variant Inborn genetic diseases [RCV004686686]|not provided [RCV001767726] Chr9:69221151 [GRCh38]
Chr9:71836067 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2115C>A (p.Asp705Glu) single nucleotide variant not provided [RCV001751950] Chr9:69237072 [GRCh38]
Chr9:71851988 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2567-12A>G single nucleotide variant not provided [RCV001799964] Chr9:69246678 [GRCh38]
Chr9:71861594 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.599G>T (p.Ser200Ile) single nucleotide variant not provided [RCV001773972] Chr9:69221143 [GRCh38]
Chr9:71836059 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2230A>G (p.Met744Val) single nucleotide variant not provided [RCV001765236] Chr9:69237928 [GRCh38]
Chr9:71852844 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3556C>G (p.Arg1186Gly) single nucleotide variant not provided [RCV001774127] Chr9:69254357 [GRCh38]
Chr9:71869273 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3528C>T (p.Arg1176=) single nucleotide variant not provided [RCV001765293] Chr9:69254329 [GRCh38]
Chr9:71869245 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.440A>G (p.Asp147Gly) single nucleotide variant not provided [RCV001752733] Chr9:69220984 [GRCh38]
Chr9:71835900 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3152A>T (p.Lys1051Met) single nucleotide variant not provided [RCV001765705] Chr9:69251195 [GRCh38]
Chr9:71866111 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1265A>G (p.Gln422Arg) single nucleotide variant not provided [RCV001771431] Chr9:69227819 [GRCh38]
Chr9:71842735 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV002272498]|not provided [RCV001785064] Chr9:69252818 [GRCh38]
Chr9:71867734 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys) single nucleotide variant TJP2-related disorder [RCV003913365]|not provided [RCV001757061] Chr9:69221397 [GRCh38]
Chr9:71836313 [GRCh37]
Chr9:9q21.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004817.4(TJP2):c.952+3A>G single nucleotide variant not provided [RCV001767696] Chr9:69221499 [GRCh38]
Chr9:71836415 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1597A>T (p.Ile533Leu) single nucleotide variant Inborn genetic diseases [RCV002544090]|not provided [RCV001761051] Chr9:69230158 [GRCh38]
Chr9:71845074 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.213G>A (p.Pro71=) single nucleotide variant not provided [RCV001758423] Chr9:69216437 [GRCh38]
Chr9:71831353 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2164G>A (p.Val722Ile) single nucleotide variant not provided [RCV001810344] Chr9:69237121 [GRCh38]
Chr9:71852037 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.839G>T (p.Arg280Leu) single nucleotide variant not provided [RCV001806666] Chr9:69221383 [GRCh38]
Chr9:71836299 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2750G>A (p.Arg917His) single nucleotide variant not provided [RCV002025927] Chr9:69248094 [GRCh38]
Chr9:71863010 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2840C>T (p.Ser947Leu) single nucleotide variant not provided [RCV002008733] Chr9:69248184 [GRCh38]
Chr9:71863100 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1501G>A (p.Glu501Lys) single nucleotide variant not provided [RCV001895768] Chr9:69229231 [GRCh38]
Chr9:71844147 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.899G>A (p.Arg300Lys) single nucleotide variant Hypercholanemia, familial 1 [RCV004728862]|not provided [RCV001872306] Chr9:69221443 [GRCh38]
Chr9:71836359 [GRCh37]
Chr9:9q21.11		 likely benign|uncertain significance
NM_004817.4(TJP2):c.3064G>A (p.Val1022Ile) single nucleotide variant Inborn genetic diseases [RCV003247083]|not provided [RCV001870985] Chr9:69251107 [GRCh38]
Chr9:71866023 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3376_3387del (p.Lys1126_Pro1129del) deletion not provided [RCV002006736] Chr9:69252869..69252880 [GRCh38]
Chr9:71867785..71867796 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11(chr9:71806129-71893866)x1 copy number loss not provided [RCV001829240] Chr9:71806129..71893866 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2044C>T (p.Arg682Trp) single nucleotide variant not provided [RCV001843680] Chr9:69237001 [GRCh38]
Chr9:71851917 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_004817.4(TJP2):c.1567C>G (p.Leu523Val) single nucleotide variant not provided [RCV001911011] Chr9:69230128 [GRCh38]
Chr9:71845044 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3415C>T (p.Pro1139Ser) single nucleotide variant not provided [RCV001891501] Chr9:69254216 [GRCh38]
Chr9:71869132 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
NM_004817.4(TJP2):c.2852G>A (p.Arg951His) single nucleotide variant Inborn genetic diseases [RCV002579571]|TJP2-related disorder [RCV003402008]|not provided [RCV002002931] Chr9:69248196 [GRCh38]
Chr9:71863112 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.413G>A (p.Arg138Gln) single nucleotide variant not provided [RCV001983687] Chr9:69220957 [GRCh38]
Chr9:71835873 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2546del (p.Thr849fs) deletion not provided [RCV001938131] Chr9:69240127 [GRCh38]
Chr9:71855043 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1141G>A (p.Val381Met) single nucleotide variant not provided [RCV001981076] Chr9:69226106 [GRCh38]
Chr9:71841022 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1826T>C (p.Ile609Thr) single nucleotide variant not provided [RCV002050738] Chr9:69236073 [GRCh38]
Chr9:71850989 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3463G>C (p.Gly1155Arg) single nucleotide variant not provided [RCV001978838] Chr9:69254264 [GRCh38]
Chr9:71869180 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1967A>G (p.Lys656Arg) single nucleotide variant not provided [RCV001978449] Chr9:69236214 [GRCh38]
Chr9:71851130 [GRCh37]
Chr9:9q21.11		 uncertain significance
NC_000009.11:g.(?_71849335)_(72006720_?)dup duplication not provided [RCV001918792] Chr9:71849335..72006720 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.788G>A (p.Arg263Gln) single nucleotide variant not provided [RCV001918999] Chr9:69221332 [GRCh38]
Chr9:71836248 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2716G>A (p.Ala906Thr) single nucleotide variant not provided [RCV002049385] Chr9:69248060 [GRCh38]
Chr9:71862976 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3061G>A (p.Ala1021Thr) single nucleotide variant not provided [RCV001921580] Chr9:69251104 [GRCh38]
Chr9:71866020 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1585A>G (p.Asn529Asp) single nucleotide variant not provided [RCV002010738] Chr9:69230146 [GRCh38]
Chr9:71845062 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2943A>C (p.Gln981His) single nucleotide variant Inborn genetic diseases [RCV004681261]|not provided [RCV002047160] Chr9:69249437 [GRCh38]
Chr9:71864353 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.953-18_953-16delinsATCTCCTAGAGTATGTTTGTCTAGGAGACAAAGTATATACTAGAGTATA indel not provided [RCV001902090] Chr9:69225286..69225288 [GRCh38]
Chr9:71840202..71840204 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.499C>T (p.Arg167Cys) single nucleotide variant Inborn genetic diseases [RCV004681392]|not provided [RCV002010887] Chr9:69221043 [GRCh38]
Chr9:71835959 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2921G>A (p.Arg974Lys) single nucleotide variant not provided [RCV001864876] Chr9:69249415 [GRCh38]
Chr9:71864331 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.23G>C (p.Gly8Ala) single nucleotide variant not provided [RCV001977864] Chr9:69174395 [GRCh38]
Chr9:71789311 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1056+11G>T single nucleotide variant not provided [RCV002124452] Chr9:69225418 [GRCh38]
Chr9:71840334 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1056+15G>A single nucleotide variant not provided [RCV002191090] Chr9:69225422 [GRCh38]
Chr9:71840338 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2567-4A>G single nucleotide variant not provided [RCV002188310] Chr9:69246686 [GRCh38]
Chr9:71861602 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.288G>A (p.Val96=) single nucleotide variant not provided [RCV002092359] Chr9:69218305 [GRCh38]
Chr9:71833221 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2275+24dup duplication not provided [RCV002127456] Chr9:69237988..69237989 [GRCh38]
Chr9:71852904..71852905 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1780+11T>C single nucleotide variant not provided [RCV002193442] Chr9:69234558 [GRCh38]
Chr9:71849474 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1781-16T>C single nucleotide variant not provided [RCV002132400] Chr9:69236012 [GRCh38]
Chr9:71850928 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.2769A>G (p.Glu923=) single nucleotide variant not provided [RCV002096426] Chr9:69248113 [GRCh38]
Chr9:71863029 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1320-19C>T single nucleotide variant not provided [RCV002131740] Chr9:69227962 [GRCh38]
Chr9:71842878 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.428T>C (p.Met143Thr) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV002272612]|not provided [RCV003164395] Chr9:69220972 [GRCh38]
Chr9:71835888 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1521-7A>G single nucleotide variant not provided [RCV002099511] Chr9:69230075 [GRCh38]
Chr9:71844991 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1908A>C (p.Thr636=) single nucleotide variant not provided [RCV002177005] Chr9:69236155 [GRCh38]
Chr9:71851071 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3012A>G (p.Glu1004=) single nucleotide variant not provided [RCV002120619] Chr9:69251055 [GRCh38]
Chr9:71865971 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2984C>T (p.Pro995Leu) single nucleotide variant not provided [RCV003114162] Chr9:69249478 [GRCh38]
Chr9:71864394 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3238G>A (p.Gly1080Ser) single nucleotide variant TJP2-related disorder [RCV003427689]|not provided [RCV003122017] Chr9:69251281 [GRCh38]
Chr9:71866197 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.658A>C (p.Ser220Arg) single nucleotide variant not provided [RCV003120043] Chr9:69221202 [GRCh38]
Chr9:71836118 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1004C>T (p.Thr335Met) single nucleotide variant not provided [RCV002244450] Chr9:69225355 [GRCh38]
Chr9:71840271 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1367C>A (p.Pro456His) single nucleotide variant not provided [RCV003149282] Chr9:69228028 [GRCh38]
Chr9:71842944 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.838C>T (p.Arg280Trp) single nucleotide variant not provided [RCV003231774] Chr9:69221382 [GRCh38]
Chr9:71836298 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.964C>T (p.Arg322Trp) single nucleotide variant not provided [RCV002261869] Chr9:69225315 [GRCh38]
Chr9:71840231 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_004817.4(TJP2):c.3115G>A (p.Val1039Ile) single nucleotide variant not provided [RCV002265131] Chr9:69251158 [GRCh38]
Chr9:71866074 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV002279862] Chr9:69236977 [GRCh38]
Chr9:71851893 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3182G>T (p.Gly1061Val) single nucleotide variant not provided [RCV002281268] Chr9:69251225 [GRCh38]
Chr9:71866141 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2323C>T (p.Arg775Trp) single nucleotide variant not provided [RCV002292049] Chr9:69238757 [GRCh38]
Chr9:71853673 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV002284005] Chr9:69237028 [GRCh38]
Chr9:71851944 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_004817.4(TJP2):c.49G>C (p.Gly17Arg) single nucleotide variant not provided [RCV002265132] Chr9:69174421 [GRCh38]
Chr9:71789337 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1820T>G (p.Phe607Cys) single nucleotide variant not provided [RCV002293663] Chr9:69236067 [GRCh38]
Chr9:71850983 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1673T>C (p.Val558Ala) single nucleotide variant Inborn genetic diseases [RCV003264929] Chr9:69234440 [GRCh38]
Chr9:71849356 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.766del (p.Ala256fs) deletion not provided [RCV002858390] Chr9:69221308 [GRCh38]
Chr9:71836224 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2667+3A>G single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV002470294] Chr9:69246793 [GRCh38]
Chr9:71861709 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2624T>C (p.Ile875Thr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 51 [RCV004585138] Chr9:69246747 [GRCh38]
Chr9:71861663 [GRCh37]
Chr9:9q21.11		 pathogenic
GRCh37/hg19 9q21.11(chr9:71496157-71893866)x1 copy number loss not provided [RCV002473605] Chr9:71496157..71893866 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3527G>A (p.Arg1176His) single nucleotide variant Inborn genetic diseases [RCV003097869]|not provided [RCV002300787] Chr9:69254328 [GRCh38]
Chr9:71869244 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.782A>G (p.Tyr261Cys) single nucleotide variant not provided [RCV002301059] Chr9:69221326 [GRCh38]
Chr9:71836242 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2845A>G (p.Ile949Val) single nucleotide variant not provided [RCV002462540] Chr9:69248189 [GRCh38]
Chr9:71863105 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2866G>C (p.Val956Leu) single nucleotide variant not provided [RCV002508661] Chr9:69248210 [GRCh38]
Chr9:71863126 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3290T>G (p.Met1097Arg) single nucleotide variant Inborn genetic diseases [RCV002865830] Chr9:69251333 [GRCh38]
Chr9:71866249 [GRCh37]
Chr9:9q21.11		 uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13		 uncertain significance
NM_004817.4(TJP2):c.490C>T (p.His164Tyr) single nucleotide variant Inborn genetic diseases [RCV003250509]|not provided [RCV002511215] Chr9:69221034 [GRCh38]
Chr9:71835950 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.147C>T (p.Ser49=) single nucleotide variant not provided [RCV002995393] Chr9:69216371 [GRCh38]
Chr9:71831287 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1443G>A (p.Glu481=) single nucleotide variant not provided [RCV003012206] Chr9:69228104 [GRCh38]
Chr9:71843020 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.454C>T (p.Arg152Trp) single nucleotide variant Inborn genetic diseases [RCV003250581]|not provided [RCV002775188] Chr9:69220998 [GRCh38]
Chr9:71835914 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1880del (p.Arg627fs) deletion not provided [RCV002861819] Chr9:69236127 [GRCh38]
Chr9:71851043 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2217A>G (p.Ile739Met) single nucleotide variant Inborn genetic diseases [RCV002880050] Chr9:69237915 [GRCh38]
Chr9:71852831 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2065C>T (p.Arg689Cys) single nucleotide variant not provided [RCV002975294] Chr9:69237022 [GRCh38]
Chr9:71851938 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.763C>T (p.Arg255Trp) single nucleotide variant Inborn genetic diseases [RCV002727761] Chr9:69221307 [GRCh38]
Chr9:71836223 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3296A>C (p.Glu1099Ala) single nucleotide variant not provided [RCV002750862] Chr9:69251339 [GRCh38]
Chr9:71866255 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.952+1_952+732del deletion not provided [RCV003037783] Chr9:69221495..69222226 [GRCh38]
Chr9:71836411..71837142 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.2869C>T (p.Gln957Ter) single nucleotide variant not provided [RCV002871377] Chr9:69248213 [GRCh38]
Chr9:71863129 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV003003262] Chr9:69216444 [GRCh38]
Chr9:71831360 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1672-17T>G single nucleotide variant not provided [RCV003055271] Chr9:69234422 [GRCh38]
Chr9:71849338 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1022A>G (p.Asp341Gly) single nucleotide variant not provided [RCV003019788] Chr9:69225373 [GRCh38]
Chr9:71840289 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2345T>C (p.Ile782Thr) single nucleotide variant not provided [RCV002885527] Chr9:69238779 [GRCh38]
Chr9:71853695 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.551C>T (p.Ala184Val) single nucleotide variant Inborn genetic diseases [RCV002868356] Chr9:69221095 [GRCh38]
Chr9:71836011 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.757T>C (p.Tyr253His) single nucleotide variant Inborn genetic diseases [RCV002782845] Chr9:69221301 [GRCh38]
Chr9:71836217 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.566G>A (p.Arg189Gln) single nucleotide variant not provided [RCV002658800] Chr9:69221110 [GRCh38]
Chr9:71836026 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1777G>T (p.Asp593Tyr) single nucleotide variant not provided [RCV002705532] Chr9:69234544 [GRCh38]
Chr9:71849460 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1735C>T (p.Pro579Ser) single nucleotide variant Inborn genetic diseases [RCV002694514] Chr9:69234502 [GRCh38]
Chr9:71849418 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3499C>T (p.Arg1167Cys) single nucleotide variant Inborn genetic diseases [RCV002844954] Chr9:69254300 [GRCh38]
Chr9:71869216 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1991+12C>T single nucleotide variant not provided [RCV002760134] Chr9:69236250 [GRCh38]
Chr9:71851166 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1949T>G (p.Ile650Ser) single nucleotide variant Inborn genetic diseases [RCV002823226] Chr9:69236196 [GRCh38]
Chr9:71851112 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.659G>A (p.Ser220Asn) single nucleotide variant not provided [RCV002975692] Chr9:69221203 [GRCh38]
Chr9:71836119 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.258C>G (p.Val86=) single nucleotide variant not provided [RCV002700619] Chr9:69218275 [GRCh38]
Chr9:71833191 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.194T>C (p.Val65Ala) single nucleotide variant not provided [RCV002933449] Chr9:69216418 [GRCh38]
Chr9:71831334 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.432C>G (p.Asp144Glu) single nucleotide variant not provided [RCV002508506] Chr9:69220976 [GRCh38]
Chr9:71835892 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2549G>T (p.Cys850Phe) single nucleotide variant Inborn genetic diseases [RCV002804428] Chr9:69240130 [GRCh38]
Chr9:71855046 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+15G>T single nucleotide variant TJP2-related disorder [RCV003916540]|not provided [RCV002790983] Chr9:69248239 [GRCh38]
Chr9:71863155 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2584T>C (p.Ser862Pro) single nucleotide variant not provided [RCV002645774] Chr9:69246707 [GRCh38]
Chr9:71861623 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1180T>A (p.Ser394Thr) single nucleotide variant Inborn genetic diseases [RCV002919725] Chr9:69226145 [GRCh38]
Chr9:71841061 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2668-15C>T single nucleotide variant not provided [RCV003043211] Chr9:69247997 [GRCh38]
Chr9:71862913 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.941G>C (p.Arg314Thr) single nucleotide variant Inborn genetic diseases [RCV002854040] Chr9:69221485 [GRCh38]
Chr9:71836401 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.720C>G (p.Ser240Arg) single nucleotide variant Inborn genetic diseases [RCV002803720] Chr9:69221264 [GRCh38]
Chr9:71836180 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880+3GAGGC[3] microsatellite not provided [RCV002825743] Chr9:69248226..69248227 [GRCh38]
Chr9:71863142..71863143 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2144A>C (p.Lys715Thr) single nucleotide variant Inborn genetic diseases [RCV002827014] Chr9:69237101 [GRCh38]
Chr9:71852017 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2181T>C (p.Ala727=) single nucleotide variant not provided [RCV003022662] Chr9:69237879 [GRCh38]
Chr9:71852795 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.823C>T (p.His275Tyr) single nucleotide variant Inborn genetic diseases [RCV002697325] Chr9:69221367 [GRCh38]
Chr9:71836283 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.377C>T (p.Ala126Val) single nucleotide variant Inborn genetic diseases [RCV002802504] Chr9:69220921 [GRCh38]
Chr9:71835837 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.494G>C (p.Gly165Ala) single nucleotide variant Inborn genetic diseases [RCV004064354]|not provided [RCV002573820] Chr9:69221038 [GRCh38]
Chr9:71835954 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.578G>C (p.Arg193Pro) single nucleotide variant Inborn genetic diseases [RCV002929597] Chr9:69221122 [GRCh38]
Chr9:71836038 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.894G>C (p.Glu298Asp) single nucleotide variant not provided [RCV002958765] Chr9:69221438 [GRCh38]
Chr9:71836354 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2653G>A (p.Val885Ile) single nucleotide variant not provided [RCV002917164] Chr9:69246776 [GRCh38]
Chr9:71861692 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.673C>A (p.Leu225Met) single nucleotide variant not provided [RCV002627048] Chr9:69221217 [GRCh38]
Chr9:71836133 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2991+18_2991+31del deletion not provided [RCV002574008] Chr9:69249503..69249516 [GRCh38]
Chr9:71864419..71864432 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003492776]|not provided [RCV002711234] Chr9:69221163 [GRCh38]
Chr9:71836079 [GRCh37]
Chr9:9q21.11		 pathogenic|likely pathogenic
NM_004817.4(TJP2):c.342+16G>A single nucleotide variant not provided [RCV002711480] Chr9:69218375 [GRCh38]
Chr9:71833291 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.81G>A (p.Leu27=) single nucleotide variant not provided [RCV003022613] Chr9:69212568 [GRCh38]
Chr9:71827484 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1139T>C (p.Val380Ala) single nucleotide variant not provided [RCV002598176] Chr9:69226104 [GRCh38]
Chr9:71841020 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.520A>G (p.Ser174Gly) single nucleotide variant not provided [RCV002834732] Chr9:69221064 [GRCh38]
Chr9:71835980 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2979A>T (p.Pro993=) single nucleotide variant not provided [RCV002602615] Chr9:69249473 [GRCh38]
Chr9:71864389 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2992-5C>T single nucleotide variant not provided [RCV002602378] Chr9:69251030 [GRCh38]
Chr9:71865946 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.409G>A (p.Asp137Asn) single nucleotide variant Inborn genetic diseases [RCV002809135] Chr9:69220953 [GRCh38]
Chr9:71835869 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3551G>A (p.Arg1184Gln) single nucleotide variant Inborn genetic diseases [RCV004676161]|not provided [RCV002628063] Chr9:69254352 [GRCh38]
Chr9:71869268 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.945G>T (p.Ala315=) single nucleotide variant not provided [RCV002962311] Chr9:69221489 [GRCh38]
Chr9:71836405 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2991+17_2991+30del deletion not provided [RCV002629214] Chr9:69249495..69249508 [GRCh38]
Chr9:71864411..71864424 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1211-16T>G single nucleotide variant not provided [RCV003026477] Chr9:69227749 [GRCh38]
Chr9:71842665 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.945G>A (p.Ala315=) single nucleotide variant not provided [RCV002715254] Chr9:69221489 [GRCh38]
Chr9:71836405 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1320-18G>A single nucleotide variant not provided [RCV002581297] Chr9:69227963 [GRCh38]
Chr9:71842879 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3529G>A (p.Gly1177Ser) single nucleotide variant Inborn genetic diseases [RCV002832356]|not provided [RCV004725598] Chr9:69254330 [GRCh38]
Chr9:71869246 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2208C>T (p.Phe736=) single nucleotide variant not provided [RCV002937956] Chr9:69237906 [GRCh38]
Chr9:71852822 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1090A>G (p.Thr364Ala) single nucleotide variant not provided [RCV003045974] Chr9:69226055 [GRCh38]
Chr9:71840971 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.939C>T (p.Ser313=) single nucleotide variant not provided [RCV003031520] Chr9:69221483 [GRCh38]
Chr9:71836399 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1211-18T>A single nucleotide variant not provided [RCV003045375] Chr9:69227747 [GRCh38]
Chr9:71842663 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2855C>G (p.Ser952Cys) single nucleotide variant Inborn genetic diseases [RCV002934516] Chr9:69248199 [GRCh38]
Chr9:71863115 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1992-16del deletion not provided [RCV002601085] Chr9:69236931 [GRCh38]
Chr9:71851847 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1628C>T (p.Ser543Leu) single nucleotide variant Inborn genetic diseases [RCV002657362]|TJP2-related disorder [RCV003396874] Chr9:69230189 [GRCh38]
Chr9:71845105 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3408-17C>T single nucleotide variant not provided [RCV002586970] Chr9:69254192 [GRCh38]
Chr9:71869108 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.205G>A (p.Val69Met) single nucleotide variant not provided [RCV002603514] Chr9:69216429 [GRCh38]
Chr9:71831345 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3393G>A (p.Thr1131=) single nucleotide variant not provided [RCV002588724] Chr9:69252886 [GRCh38]
Chr9:71867802 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.629C>T (p.Ala210Val) single nucleotide variant not provided [RCV002589629] Chr9:69221173 [GRCh38]
Chr9:71836089 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1780+6C>A single nucleotide variant not provided [RCV002604113] Chr9:69234553 [GRCh38]
Chr9:71849469 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2874C>T (p.His958=) single nucleotide variant not provided [RCV002612658] Chr9:69248218 [GRCh38]
Chr9:71863134 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.79C>G (p.Leu27Val) single nucleotide variant Inborn genetic diseases [RCV003189620]|not provided [RCV004765765] Chr9:69212566 [GRCh38]
Chr9:71827482 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2884A>C (p.Ile962Leu) single nucleotide variant not provided [RCV003159401] Chr9:69249378 [GRCh38]
Chr9:71864294 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.764G>A (p.Arg255Gln) single nucleotide variant TJP2-related disorder [RCV004750878]|not provided [RCV003224027] Chr9:69221308 [GRCh38]
Chr9:71836224 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1521-2_1521-1insTAA insertion not provided [RCV003141016] Chr9:69230079..69230080 [GRCh38]
Chr9:71844995..71844996 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1319G>C (p.Ser440Thr) single nucleotide variant not provided [RCV003141017] Chr9:69227873 [GRCh38]
Chr9:71842789 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.579_590del (p.Asp194_Arg197del) deletion not provided [RCV003141018] Chr9:69221118..69221129 [GRCh38]
Chr9:71836034..71836045 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.355C>A (p.Pro119Thr) single nucleotide variant Inborn genetic diseases [RCV003213009] Chr9:69220899 [GRCh38]
Chr9:71835815 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2572A>G (p.Ile858Val) single nucleotide variant not provided [RCV003225585] Chr9:69246695 [GRCh38]
Chr9:71861611 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.679C>T (p.His227Tyr) single nucleotide variant not provided [RCV003319874] Chr9:69221223 [GRCh38]
Chr9:71836139 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2083G>T (p.Val695Leu) single nucleotide variant not provided [RCV003318814] Chr9:69237040 [GRCh38]
Chr9:71851956 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3327A>T (p.Glu1109Asp) single nucleotide variant Inborn genetic diseases [RCV003308886] Chr9:69252820 [GRCh38]
Chr9:71867736 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3215A>G (p.Asp1072Gly) single nucleotide variant not provided [RCV003318858] Chr9:69251258 [GRCh38]
Chr9:71866174 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2491A>G (p.Thr831Ala) single nucleotide variant not provided [RCV004592002] Chr9:69240072 [GRCh38]
Chr9:71854988 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2415G>T (p.Gln805His) single nucleotide variant not provided [RCV003329594] Chr9:69239996 [GRCh38]
Chr9:71854912 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2036C>G (p.Ala679Gly) single nucleotide variant not provided [RCV003329979] Chr9:69236993 [GRCh38]
Chr9:71851909 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2051A>G (p.Asp684Gly) single nucleotide variant Inborn genetic diseases [RCV003340330] Chr9:69237008 [GRCh38]
Chr9:71851924 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3415C>A (p.Pro1139Thr) single nucleotide variant Inborn genetic diseases [RCV003360211] Chr9:69254216 [GRCh38]
Chr9:71869132 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.616G>T (p.Asp206Tyr) single nucleotide variant Inborn genetic diseases [RCV003371994] Chr9:69221160 [GRCh38]
Chr9:71836076 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1393A>G (p.Ile465Val) single nucleotide variant Inborn genetic diseases [RCV003352470] Chr9:69228054 [GRCh38]
Chr9:71842970 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2725G>A (p.Ala909Thr) single nucleotide variant Inborn genetic diseases [RCV003367000] Chr9:69248069 [GRCh38]
Chr9:71862985 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.643C>T (p.Arg215Cys) single nucleotide variant Inborn genetic diseases [RCV003364689] Chr9:69221187 [GRCh38]
Chr9:71836103 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.559C>G (p.Arg187Gly) single nucleotide variant not provided [RCV003332849] Chr9:69221103 [GRCh38]
Chr9:71836019 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.568G>T (p.Asp190Tyr) single nucleotide variant Inborn genetic diseases [RCV003372277] Chr9:69221112 [GRCh38]
Chr9:71836028 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1360G>A (p.Ala454Thr) single nucleotide variant not provided [RCV003481912] Chr9:69228021 [GRCh38]
Chr9:71842937 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1624A>T (p.Thr542Ser) single nucleotide variant not provided [RCV003481914] Chr9:69230185 [GRCh38]
Chr9:71845101 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1320-1G>A single nucleotide variant not provided [RCV003489483] Chr9:69227980 [GRCh38]
Chr9:71842896 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003388678] Chr9:69237886 [GRCh38]
Chr9:71852802 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.3404C>T (p.Thr1135Met) single nucleotide variant not provided [RCV003481915] Chr9:69252897 [GRCh38]
Chr9:71867813 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2395G>A (p.Asp799Asn) single nucleotide variant not provided [RCV003442603] Chr9:69239976 [GRCh38]
Chr9:71854892 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1499C>T (p.Pro500Leu) single nucleotide variant not provided [RCV003481913] Chr9:69229229 [GRCh38]
Chr9:71844145 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3277A>G (p.Arg1093Gly) single nucleotide variant not provided [RCV003435813] Chr9:69251320 [GRCh38]
Chr9:71866236 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.716G>A (p.Arg239His) single nucleotide variant not provided [RCV003425679] Chr9:69221260 [GRCh38]
Chr9:71836176 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2434T>G (p.Phe812Val) single nucleotide variant not provided [RCV003443329] Chr9:69240015 [GRCh38]
Chr9:71854931 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2355+14T>A single nucleotide variant not provided [RCV003882536] Chr9:69238803 [GRCh38]
Chr9:71853719 [GRCh37]
Chr9:9q21.11		 benign
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003492887] Chr9:69236102 [GRCh38]
Chr9:71851018 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.953-1G>A single nucleotide variant not provided [RCV003662880] Chr9:69225303 [GRCh38]
Chr9:71840219 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.2885del (p.Ile962fs) deletion not provided [RCV003689401] Chr9:69249379 [GRCh38]
Chr9:71864295 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.3243A>T (p.Lys1081Asn) single nucleotide variant not provided [RCV003695856] Chr9:69251286 [GRCh38]
Chr9:71866202 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1517_1520+8del deletion Cholestasis, progressive familial intrahepatic, 4 [RCV003492888] Chr9:69229244..69229255 [GRCh38]
Chr9:71844160..71844171 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.3549C>T (p.Ala1183=) single nucleotide variant TJP2-related disorder [RCV003921361]|not provided [RCV003829158] Chr9:69254350 [GRCh38]
Chr9:71869266 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1520+21_1520+22del deletion not provided [RCV003661891] Chr9:69229270..69229271 [GRCh38]
Chr9:71844186..71844187 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003492889] Chr9:69234532 [GRCh38]
Chr9:71849448 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1338G>A (p.Pro446=) single nucleotide variant not provided [RCV003832051] Chr9:69227999 [GRCh38]
Chr9:71842915 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1794C>T (p.Ile598=) single nucleotide variant not provided [RCV003851053] Chr9:69236041 [GRCh38]
Chr9:71850957 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3471T>C (p.Tyr1157=) single nucleotide variant not provided [RCV003740354] Chr9:69254272 [GRCh38]
Chr9:71869188 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2016A>G (p.Gln672=) single nucleotide variant not provided [RCV003835152] Chr9:69236973 [GRCh38]
Chr9:71851889 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.723C>T (p.Arg241=) single nucleotide variant not provided [RCV003665640] Chr9:69221267 [GRCh38]
Chr9:71836183 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3141G>T (p.Arg1047=) single nucleotide variant TJP2-related disorder [RCV003893466]|not provided [RCV003835969] Chr9:69251184 [GRCh38]
Chr9:71866100 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1992-15G>A single nucleotide variant not provided [RCV003852146] Chr9:69236934 [GRCh38]
Chr9:71851850 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3483C>A (p.Ala1161=) single nucleotide variant TJP2-related disorder [RCV003909177]|not provided [RCV003837694] Chr9:69254284 [GRCh38]
Chr9:71869200 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1520+12C>T single nucleotide variant not provided [RCV003817322] Chr9:69229262 [GRCh38]
Chr9:71844178 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1520+19C>G single nucleotide variant not provided [RCV003814256] Chr9:69229269 [GRCh38]
Chr9:71844185 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2706C>G (p.Ser902=) single nucleotide variant not provided [RCV003834946] Chr9:69248050 [GRCh38]
Chr9:71862966 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.4_11dup (p.Gly5fs) duplication not provided [RCV003724641] Chr9:69174374..69174375 [GRCh38]
Chr9:71789290..71789291 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.1453+16C>T single nucleotide variant not provided [RCV003838128] Chr9:69228130 [GRCh38]
Chr9:71843046 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1453+17A>C single nucleotide variant not provided [RCV003816461] Chr9:69228131 [GRCh38]
Chr9:71843047 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1825A>G (p.Ile609Val) single nucleotide variant TJP2-related disorder [RCV004750934]|not provided [RCV003819629] Chr9:69236072 [GRCh38]
Chr9:71850988 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2276-20T>G single nucleotide variant not provided [RCV003675138] Chr9:69238690 [GRCh38]
Chr9:71853606 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2668-12A>G single nucleotide variant not provided [RCV003848114] Chr9:69248000 [GRCh38]
Chr9:71862916 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1929C>T (p.Gly643=) single nucleotide variant TJP2-related disorder [RCV004750920]|not provided [RCV003710145] Chr9:69236176 [GRCh38]
Chr9:71851092 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2451C>T (p.Ser817=) single nucleotide variant not provided [RCV003711055] Chr9:69240032 [GRCh38]
Chr9:71854948 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1781-19C>T single nucleotide variant not provided [RCV003820724] Chr9:69236009 [GRCh38]
Chr9:71850925 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.953-9G>T single nucleotide variant not provided [RCV003853155] Chr9:69225295 [GRCh38]
Chr9:71840211 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.637C>T (p.Arg213Ter) single nucleotide variant not provided [RCV003845506] Chr9:69221181 [GRCh38]
Chr9:71836097 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2881-2A>G single nucleotide variant not provided [RCV003710624] Chr9:69249373 [GRCh38]
Chr9:71864289 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.1001G>A (p.Arg334Gln) single nucleotide variant Inborn genetic diseases [RCV004676322]|not provided [RCV003871988] Chr9:69225352 [GRCh38]
Chr9:71840268 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.239+12C>G single nucleotide variant not provided [RCV003707471] Chr9:69216475 [GRCh38]
Chr9:71831391 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2363A>T (p.His788Leu) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV003986035] Chr9:69239944 [GRCh38]
Chr9:71854860 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.3408-12T>A single nucleotide variant not provided [RCV003542858] Chr9:69254197 [GRCh38]
Chr9:71869113 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.547C>A (p.Arg183=) single nucleotide variant not provided [RCV003722047] Chr9:69221091 [GRCh38]
Chr9:71836007 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.648C>T (p.Ser216=) single nucleotide variant not provided [RCV003554784] Chr9:69221192 [GRCh38]
Chr9:71836108 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1056+9A>C single nucleotide variant not provided [RCV003708978] Chr9:69225416 [GRCh38]
Chr9:71840332 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1362G>A (p.Ala454=) single nucleotide variant not provided [RCV003819172] Chr9:69228023 [GRCh38]
Chr9:71842939 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2136C>G (p.Val712=) single nucleotide variant TJP2-related disorder [RCV003947298] Chr9:69237093 [GRCh38]
Chr9:71852009 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.60+7G>C single nucleotide variant TJP2-related disorder [RCV003961522] Chr9:69174439 [GRCh38]
Chr9:71789355 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.801G>A (p.Pro267=) single nucleotide variant TJP2-related disorder [RCV003902285] Chr9:69221345 [GRCh38]
Chr9:71836261 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.357C>T (p.Pro119=) single nucleotide variant TJP2-related disorder [RCV003902088] Chr9:69220901 [GRCh38]
Chr9:71835817 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.699G>A (p.Arg233=) single nucleotide variant TJP2-related disorder [RCV003921533] Chr9:69221243 [GRCh38]
Chr9:71836159 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2802C>A (p.Asp934Glu) single nucleotide variant TJP2-related disorder [RCV003983354] Chr9:69248146 [GRCh38]
Chr9:71863062 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.55C>T (p.Leu19Phe) single nucleotide variant TJP2-related disorder [RCV003899509] Chr9:69174427 [GRCh38]
Chr9:71789343 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.639A>C (p.Arg213=) single nucleotide variant TJP2-related disorder [RCV003903885] Chr9:69221183 [GRCh38]
Chr9:71836099 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.819C>T (p.Ala273=) single nucleotide variant TJP2-related disorder [RCV003937291] Chr9:69221363 [GRCh38]
Chr9:71836279 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.825C>T (p.His275=) single nucleotide variant TJP2-related disorder [RCV003983697] Chr9:69221369 [GRCh38]
Chr9:71836285 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.277A>G (p.Met93Val) single nucleotide variant TJP2-related disorder [RCV003897263] Chr9:69218294 [GRCh38]
Chr9:71833210 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.559_565del (p.Arg187fs) deletion TJP2-related disorder [RCV003904331] Chr9:69221098..69221104 [GRCh38]
Chr9:71836014..71836020 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.3235C>T (p.Leu1079=) single nucleotide variant TJP2-related disorder [RCV003959677] Chr9:69251278 [GRCh38]
Chr9:71866194 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3528C>G (p.Arg1176=) single nucleotide variant TJP2-related disorder [RCV003981708] Chr9:69254329 [GRCh38]
Chr9:71869245 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3423G>A (p.Glu1141=) single nucleotide variant TJP2-related disorder [RCV003982717] Chr9:69254224 [GRCh38]
Chr9:71869140 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.721C>T (p.Arg241Cys) single nucleotide variant TJP2-related disorder [RCV003976909] Chr9:69221265 [GRCh38]
Chr9:71836181 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.476G>T (p.Ser159Ile) single nucleotide variant TJP2-related disorder [RCV003907126] Chr9:69221020 [GRCh38]
Chr9:71835936 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1710T>C (p.Asp570=) single nucleotide variant TJP2-related disorder [RCV003894751] Chr9:69234477 [GRCh38]
Chr9:71849393 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2823C>T (p.Ala941=) single nucleotide variant TJP2-related disorder [RCV003897190] Chr9:69248167 [GRCh38]
Chr9:71863083 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.1525A>G (p.Asn509Asp) single nucleotide variant Inborn genetic diseases [RCV004469989] Chr9:69230086 [GRCh38]
Chr9:71845002 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2789G>A (p.Gly930Asp) single nucleotide variant Inborn genetic diseases [RCV004469993] Chr9:69248133 [GRCh38]
Chr9:71863049 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.641A>C (p.Asp214Ala) single nucleotide variant Inborn genetic diseases [RCV004469996] Chr9:69221185 [GRCh38]
Chr9:71836101 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.854G>A (p.Arg285His) single nucleotide variant Inborn genetic diseases [RCV004469998] Chr9:69221398 [GRCh38]
Chr9:71836314 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2267A>G (p.Gln756Arg) single nucleotide variant Inborn genetic diseases [RCV004469990] Chr9:69237965 [GRCh38]
Chr9:71852881 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.488G>A (p.Ser163Asn) single nucleotide variant Inborn genetic diseases [RCV004469994]|not provided [RCV004767552] Chr9:69221032 [GRCh38]
Chr9:71835948 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2668A>G (p.Met890Val) single nucleotide variant Inborn genetic diseases [RCV004469991] Chr9:69248012 [GRCh38]
Chr9:71862928 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1780+2T>G single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV004585202] Chr9:69234549 [GRCh38]
Chr9:71849465 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.2698C>A (p.Arg900Ser) single nucleotide variant Inborn genetic diseases [RCV004469992]|not provided [RCV004588541] Chr9:69248042 [GRCh38]
Chr9:71862958 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.515A>G (p.Glu172Gly) single nucleotide variant Inborn genetic diseases [RCV004469995] Chr9:69221059 [GRCh38]
Chr9:71835975 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.676G>T (p.Asp226Tyr) single nucleotide variant Inborn genetic diseases [RCV004469997] Chr9:69221220 [GRCh38]
Chr9:71836136 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.923T>C (p.Val308Ala) single nucleotide variant Inborn genetic diseases [RCV004469999] Chr9:69221467 [GRCh38]
Chr9:71836383 [GRCh37]
Chr9:9q21.11		 uncertain significance
NC_000009.11:g.(?_71627953)_(72006720_?)del deletion not provided [RCV004582096] Chr9:71627953..72006720 [GRCh37]
Chr9:9q21.11		 pathogenic
NC_000009.11:g.(?_71831235)_(71831399_?)del deletion not provided [RCV004582098] Chr9:71831235..71831399 [GRCh37]
Chr9:9q21.11		 pathogenic
NM_004817.4(TJP2):c.2480G>A (p.Arg827Lys) single nucleotide variant Inborn genetic diseases [RCV004677011] Chr9:69240061 [GRCh38]
Chr9:71854977 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3433G>C (p.Ala1145Pro) single nucleotide variant Inborn genetic diseases [RCV004677012] Chr9:69254234 [GRCh38]
Chr9:71869150 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1565G>T (p.Gly522Val) single nucleotide variant Inborn genetic diseases [RCV004677013] Chr9:69230126 [GRCh38]
Chr9:71845042 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.493G>C (p.Gly165Arg) single nucleotide variant Inborn genetic diseases [RCV004677014] Chr9:69221037 [GRCh38]
Chr9:71835953 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2418G>C (p.Trp806Cys) single nucleotide variant Inborn genetic diseases [RCV004677015] Chr9:69239999 [GRCh38]
Chr9:71854915 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.709C>T (p.Arg237Cys) single nucleotide variant Inborn genetic diseases [RCV004677016] Chr9:69221253 [GRCh38]
Chr9:71836169 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.259A>G (p.Met87Val) single nucleotide variant Inborn genetic diseases [RCV004677017] Chr9:69218276 [GRCh38]
Chr9:71833192 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1061A>G (p.Asn354Ser) single nucleotide variant Inborn genetic diseases [RCV004677018] Chr9:69226026 [GRCh38]
Chr9:71840942 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2677A>T (p.Met893Leu) single nucleotide variant Inborn genetic diseases [RCV004677010] Chr9:69248021 [GRCh38]
Chr9:71862937 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.395C>T (p.Pro132Leu) single nucleotide variant Inborn genetic diseases [RCV004686825] Chr9:69220939 [GRCh38]
Chr9:71835855 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1552G>C (p.Gly518Arg) single nucleotide variant not provided [RCV004725944] Chr9:69230113 [GRCh38]
Chr9:71845029 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.910G>A (p.Gly304Arg) single nucleotide variant not provided [RCV004723925] Chr9:69221454 [GRCh38]
Chr9:71836370 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1886A>T (p.Glu629Val) single nucleotide variant not provided [RCV004772016] Chr9:69236133 [GRCh38]
Chr9:71851049 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1878C>G (p.Thr626=) single nucleotide variant TJP2-related disorder [RCV004730357] Chr9:69236125 [GRCh38]
Chr9:71851041 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.551_568del (p.Ala184_Arg189del) deletion not provided [RCV004729383] Chr9:69221088..69221105 [GRCh38]
Chr9:71836004..71836021 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2880G>A (p.Glu960=) single nucleotide variant not provided [RCV004722332] Chr9:69248224 [GRCh38]
Chr9:71863140 [GRCh37]
Chr9:9q21.11		 likely pathogenic
NM_004817.4(TJP2):c.519C>G (p.Asp173Glu) single nucleotide variant TJP2-related disorder [RCV004731350] Chr9:69221063 [GRCh38]
Chr9:71835979 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1453G>A (p.Ala485Thr) single nucleotide variant not provided [RCV004769470] Chr9:69228114 [GRCh38]
Chr9:71843030 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.1980C>T (p.Pro660=) single nucleotide variant TJP2-related disorder [RCV004752257] Chr9:69236227 [GRCh38]
Chr9:71851143 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3269A>G (p.His1090Arg) single nucleotide variant not provided [RCV004724082] Chr9:69251312 [GRCh38]
Chr9:71866228 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2474G>A (p.Arg825Lys) single nucleotide variant TJP2-related disorder [RCV004732427] Chr9:69240055 [GRCh38]
Chr9:71854971 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.3134T>C (p.Phe1045Ser) single nucleotide variant not provided [RCV004759919]   uncertain significance
NM_004817.4(TJP2):c.1714G>A (p.Val572Ile) single nucleotide variant Hypercholanemia, familial 1 [RCV004760302] Chr9:69234481 [GRCh38]
Chr9:71849397 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2250G>A (p.Glu750=) single nucleotide variant TJP2-related disorder [RCV004752434] Chr9:69237948 [GRCh38]
Chr9:71852864 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.2668-13C>G single nucleotide variant not provided [RCV004763169]   uncertain significance
NM_004817.4(TJP2):c.1671+8C>G single nucleotide variant TJP2-related disorder [RCV004751107] Chr9:69230240 [GRCh38]
Chr9:71845156 [GRCh37]
Chr9:9q21.11		 likely benign
NM_004817.4(TJP2):c.3263T>C (p.Met1088Thr) single nucleotide variant TJP2-related disorder [RCV004752309] Chr9:69251306 [GRCh38]
Chr9:71866222 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.2300C>T (p.Ser767Phe) single nucleotide variant TJP2-related disorder [RCV004752357] Chr9:69238734 [GRCh38]
Chr9:71853650 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.621_680del (p.Gln207_Asp226del) deletion TJP2-related disorder [RCV004752426] Chr9:69221130..69221189 [GRCh38]
Chr9:71836046..71836105 [GRCh37]
Chr9:9q21.11		 uncertain significance
NM_004817.4(TJP2):c.975T>A (p.Ser325Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic, 4 [RCV004727203] Chr9:69225326 [GRCh38]
Chr9:71840242 [GRCh37]
Chr9:9q21.11		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR203Ahsa-miR-203aMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI22101077

Predicted Target Of
Summary Value
Count of predictions:3026
Count of miRNA genes:936
Interacting mature miRNAs:1113
Transcripts:ENST00000265384, ENST00000348208, ENST00000377245, ENST00000377259, ENST00000423935, ENST00000453658, ENST00000498204, ENST00000535702, ENST00000539225, ENST00000606364
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407148996GWAS797972_Hrefractive error QTL GWAS797972 (human)5e-09refractive error96915167769151678Human
407384904GWAS1033880_Hblood protein measurement QTL GWAS1033880 (human)1e-50blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407125188GWAS774164_Hrenal sinus adipose tissue measurement QTL GWAS774164 (human)0.000004renal sinus adipose tissue measurement96925101669251017Human
407134662GWAS783638_Hrefractive error, self reported educational attainment QTL GWAS783638 (human)2e-09refractive error, self reported educational attainment96915602369156024Human
407381900GWAS1030876_Hblood protein measurement QTL GWAS1030876 (human)3e-44blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407379392GWAS1028368_Hblood protein measurement QTL GWAS1028368 (human)2e-101blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407269710GWAS918686_Hretinal vasculature measurement QTL GWAS918686 (human)3e-08retina blood vessel morphology trait (VT:0002792)96921221969212220Human
407151177GWAS800153_Hrefractive error, age at onset, Myopia QTL GWAS800153 (human)1e-21refractive error, age at onset, Myopia96915167769151678Human
407373765GWAS1022741_Hblood protein measurement QTL GWAS1022741 (human)1e-79blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
406908241GWAS557217_Hserum alanine aminotransferase measurement QTL GWAS557217 (human)2e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)96921467969214680Human
407011731GWAS660707_Hrefractive error QTL GWAS660707 (human)2e-10refractive error96921946469219465Human
407010517GWAS659493_HAbnormality of refraction QTL GWAS659493 (human)3e-39Abnormality of refraction96915120369151204Human
407187423GWAS836399_Hmigraine disorder QTL GWAS836399 (human)2e-16migraine disorder96913192269131923Human
406991320GWAS640296_Hmigraine disorder, Headache QTL GWAS640296 (human)4e-08migraine disorder, Headache96913229269132293Human
407227033GWAS876009_HMyopia QTL GWAS876009 (human)7e-21Myopia96915602369156024Human
407149274GWAS798250_Hrefractive error QTL GWAS798250 (human)1e-08refractive error96915167769151678Human
407370854GWAS1019830_Hblood protein measurement QTL GWAS1019830 (human)2e-44blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
406986341GWAS635317_Hglomerular filtration rate QTL GWAS635317 (human)0.000004glomerular filtration rateglomerular filtration rate (CMO:0000490)96917663169176632Human
407385007GWAS1033983_Hblood protein measurement QTL GWAS1033983 (human)4e-87blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407124205GWAS773181_HAbnormality of refraction QTL GWAS773181 (human)7e-09Abnormality of refraction96915167769151678Human
407272552GWAS921528_Hlongitudinal BMI measurement, response to amisulpride QTL GWAS921528 (human)0.000002longitudinal BMI measurement, response to amisulpridebody mass index (BMI) (CMO:0000105)96913015769130158Human
407260328GWAS909304_Hmacula measurement QTL GWAS909304 (human)3e-08macula measurement96917418869174189Human
407385337GWAS1034313_Hblood protein measurement QTL GWAS1034313 (human)6e-102blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407201015GWAS849991_Hred blood cell density measurement QTL GWAS849991 (human)2e-11red blood cell density measurement96921539269215393Human
407385339GWAS1034315_Hblood protein measurement QTL GWAS1034315 (human)5e-54blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human
407152626GWAS801602_Hage at onset, Myopia QTL GWAS801602 (human)3e-15age at onset, Myopia96915120369151204Human
407385013GWAS1033989_Hblood protein measurement QTL GWAS1033989 (human)1e-71blood protein measurementblood protein measurement (CMO:0000028)96920474769204748Human

Markers in Region
RH39762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,869,789 - 71,869,990UniSTSGRCh37
Build 36971,059,609 - 71,059,810RGDNCBI36
Celera942,460,279 - 42,460,480RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,709,449 - 41,709,650UniSTS
GeneMap99-GB4 RH Map1258.21UniSTS
G54053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,869,854 - 71,869,992UniSTSGRCh37
Build 36971,059,674 - 71,059,812RGDNCBI36
Celera942,460,344 - 42,460,482RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,709,514 - 41,709,652UniSTS
D9S886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,811,792 - 71,811,951UniSTSGRCh37
Build 36971,001,612 - 71,001,771RGDNCBI36
Celera942,402,216 - 42,402,375RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,650,999 - 41,651,573UniSTS
D9S744E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,849,253 - 71,849,414UniSTSGRCh37
Build 36971,039,073 - 71,039,234RGDNCBI36
Celera942,439,743 - 42,439,904RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,688,914 - 41,689,074UniSTS
SHGC-148426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,811,293 - 71,811,588UniSTSGRCh37
Build 36971,001,113 - 71,001,408RGDNCBI36
Celera942,401,717 - 42,402,012RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,650,501 - 41,650,795UniSTS
TNG Radiation Hybrid Map922775.0UniSTS
SHGC-132518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,864,345 - 71,864,614UniSTSGRCh37
Build 36971,054,165 - 71,054,434RGDNCBI36
Celera942,454,835 - 42,455,104RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,704,005 - 41,704,274UniSTS
TNG Radiation Hybrid Map922808.0UniSTS
SHGC-34170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,864,528 - 71,864,631UniSTSGRCh37
Build 36971,054,348 - 71,054,451RGDNCBI36
Celera942,455,018 - 42,455,121RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,704,188 - 41,704,291UniSTS
Stanford-G3 RH Map91936.0UniSTS
GeneMap99-GB4 RH Map9219.64UniSTS
Whitehead-RH Map9257.7UniSTS
NCBI RH Map9619.1UniSTS
GeneMap99-G3 RH Map91891.0UniSTS
D9S1716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,869,362 - 71,869,461UniSTSGRCh37
Build 36971,059,182 - 71,059,281RGDNCBI36
Celera942,459,852 - 42,459,951RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,709,022 - 41,709,121UniSTS
GeneMap99-GB4 RH Map9219.51UniSTS
Whitehead-RH Map9257.7UniSTS
Whitehead-YAC Contig Map9 UniSTS
SGC30152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37971,869,966 - 71,870,080UniSTSGRCh37
Build 36971,059,786 - 71,059,900RGDNCBI36
Celera942,460,456 - 42,460,570RGD
Cytogenetic Map9q13-q21UniSTS
HuRef941,709,626 - 41,709,740UniSTS
GeneMap99-GB4 RH Map9235.85UniSTS
Whitehead-RH Map9245.1UniSTS
NCBI RH Map9653.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2251 4971 1726 2350 6 624 1950 465 2269 7303 6469 53 3732 1 852 1742 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001170416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF489824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI738923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL358113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX865985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA270962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB090695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB196171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC325189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L27476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U84581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000348208   ⟹   ENSP00000345893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,277 - 69,255,201 (+)Ensembl
Ensembl Acc Id: ENST00000377245   ⟹   ENSP00000366453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,277 - 69,255,208 (+)Ensembl
Ensembl Acc Id: ENST00000377259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,151,646 - 69,218,539 (+)Ensembl
Ensembl Acc Id: ENST00000413932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,293 - 69,122,232 (+)Ensembl
Ensembl Acc Id: ENST00000423935   ⟹   ENSP00000402941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,470 - 69,221,096 (+)Ensembl
Ensembl Acc Id: ENST00000453658   ⟹   ENSP00000392178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,264 - 69,255,208 (+)Ensembl
Ensembl Acc Id: ENST00000498204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,244,687 - 69,255,182 (+)Ensembl
Ensembl Acc Id: ENST00000535702   ⟹   ENSP00000442090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,204,798 - 69,254,520 (+)Ensembl
Ensembl Acc Id: ENST00000539225   ⟹   ENSP00000438262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,205,162 - 69,254,546 (+)Ensembl
Ensembl Acc Id: ENST00000606364   ⟹   ENSP00000475926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,308 - 69,221,016 (+)Ensembl
Ensembl Acc Id: ENST00000636247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,294 - 69,248,990 (+)Ensembl
Ensembl Acc Id: ENST00000636438   ⟹   ENSP00000489860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,145,590 - 69,255,199 (+)Ensembl
Ensembl Acc Id: ENST00000643713   ⟹   ENSP00000494704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,264 - 69,212,572 (+)Ensembl
Ensembl Acc Id: ENST00000647986   ⟹   ENSP00000496877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,123,048 - 69,246,746 (+)Ensembl
Ensembl Acc Id: ENST00000648042   ⟹   ENSP00000497059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,227,846 - 69,255,187 (+)Ensembl
Ensembl Acc Id: ENST00000648087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,121,470 - 69,248,898 (+)Ensembl
Ensembl Acc Id: ENST00000648153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,222,209 - 69,228,091 (+)Ensembl
Ensembl Acc Id: ENST00000648402   ⟹   ENSP00000497596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,205,190 - 69,221,015 (+)Ensembl
Ensembl Acc Id: ENST00000648460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,229,736 - 69,236,032 (+)Ensembl
Ensembl Acc Id: ENST00000648862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,221,333 - 69,225,603 (+)Ensembl
Ensembl Acc Id: ENST00000649114   ⟹   ENSP00000497328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,282 - 69,255,187 (+)Ensembl
Ensembl Acc Id: ENST00000649134   ⟹   ENSP00000498068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,205,155 - 69,255,187 (+)Ensembl
Ensembl Acc Id: ENST00000649783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,176,942 - 69,255,152 (+)Ensembl
Ensembl Acc Id: ENST00000649927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,240,037 - 69,255,180 (+)Ensembl
Ensembl Acc Id: ENST00000649939   ⟹   ENSP00000498043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,204,990 - 69,221,081 (+)Ensembl
Ensembl Acc Id: ENST00000649943   ⟹   ENSP00000497539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,282 - 69,255,185 (+)Ensembl
Ensembl Acc Id: ENST00000650084   ⟹   ENSP00000497861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,205,171 - 69,255,187 (+)Ensembl
Ensembl Acc Id: ENST00000650333   ⟹   ENSP00000496791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,174,377 - 69,274,615 (+)Ensembl
Ensembl Acc Id: ENST00000650353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,247,639 - 69,255,180 (+)Ensembl
Ensembl Acc Id: ENST00000650378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,212,359 - 69,221,145 (+)Ensembl
Ensembl Acc Id: ENST00000650460   ⟹   ENSP00000497787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,221,272 - 69,255,134 (+)Ensembl
Ensembl Acc Id: ENST00000650522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl969,176,942 - 69,255,163 (+)Ensembl
RefSeq Acc Id: NM_001170414   ⟹   NP_001163885
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,121,264 - 69,255,208 (+)NCBI
GRCh37971,714,875 - 71,870,124 (+)NCBI
HuRef941,580,602 - 41,709,784 (+)NCBI
CHM1_1971,882,855 - 72,016,570 (+)NCBI
T2T-CHM13v2.0981,294,639 - 81,423,094 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001170415   ⟹   NP_001163886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,205,011 - 69,255,208 (+)NCBI
GRCh37971,714,875 - 71,870,124 (+)NCBI
HuRef941,580,602 - 41,709,784 (+)NCBI
CHM1_1971,966,372 - 72,016,570 (+)NCBI
T2T-CHM13v2.0981,372,810 - 81,423,094 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001170416   ⟹   NP_001163887
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,205,155 - 69,255,204 (+)NCBI
GRCh37971,714,875 - 71,870,124 (+)NCBI
HuRef941,580,602 - 41,709,784 (+)NCBI
CHM1_1971,966,523 - 72,016,570 (+)NCBI
T2T-CHM13v2.0981,372,954 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369870   ⟹   NP_001356799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,121,499 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,294,874 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369871   ⟹   NP_001356800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,123,015 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,296,390 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369872   ⟹   NP_001356801
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,174,277 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,342,077 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369873   ⟹   NP_001356802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,174,277 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,342,077 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369874   ⟹   NP_001356803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,205,155 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,372,954 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001369875   ⟹   NP_001356804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,205,155 - 69,255,204 (+)NCBI
T2T-CHM13v2.0981,372,954 - 81,423,090 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004817   ⟹   NP_004808
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38969,174,277 - 69,255,208 (+)NCBI
GRCh37971,714,875 - 71,870,124 (+)NCBI
Build 36970,978,909 - 71,059,940 (+)NCBI Archive
HuRef941,580,602 - 41,709,784 (+)NCBI
CHM1_1971,935,404 - 72,016,570 (+)NCBI
T2T-CHM13v2.0981,342,077 - 81,423,094 (+)NCBI
Sequence:
RefSeq Acc Id: