CLDN16 (claudin 16) - Rat Genome Database

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Gene: CLDN16 (claudin 16) Homo sapiens
Analyze
Symbol: CLDN16
Name: claudin 16
RGD ID: 1351544
HGNC Page HGNC:2037
Description: Enables PDZ domain binding activity; identical protein binding activity; and paracellular tight junction channel activity. Involved in paracellular transport. Located in tight junction. Implicated in renal hypomagnesemia 3 and renal tubular transport disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: claudin-16; HOMG3; hypomagnesemia 3, with hypercalciuria and nephrocalcinosis; paracellin-1; PCLN-1; PCLN1
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
GRCh383190,290,361 - 190,412,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3190,322,541 - 190,412,138 (+)EnsemblGRCh38hg38GRCh38
GRCh373190,008,150 - 190,129,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363191,588,535 - 191,611,027 (+)NCBINCBI36Build 36hg18NCBI36
Build 343191,588,542 - 191,611,035NCBI
Celera3188,536,131 - 188,560,428 (+)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3187,505,460 - 187,529,668 (+)NCBIHuRef
CHM1_13190,068,819 - 190,093,110 (+)NCBICHM1_1
T2T-CHM13v2.03193,106,655 - 193,228,453 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
bicellular tight junction  (IBA,IEA,ISO,ISS,TAS)
membrane  (IEA)
plasma membrane  (IBA,IEA)
tight junction  (IDA)

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating calcium concentration  (IAGP)
Acidosis  (IAGP)
Amelogenesis imperfecta  (IAGP)
Astigmatism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bowing of the legs  (IAGP)
Childhood onset  (IAGP)
Chronic kidney disease  (IAGP)
Distal renal tubular acidosis  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatinine concentration  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
Enamel hypoplasia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Genu valgum  (IAGP)
Hematuria  (IAGP)
Hypercalciuria  (IAGP)
Hypercitraturia  (IAGP)
Hypermagnesiuria  (IAGP)
Hypermetropia  (IAGP)
Hyperphosphatemia  (IAGP)
Hypertension  (IAGP)
Hyperuricemia  (IAGP)
Hyperuricosuria  (IAGP)
Hypocalcemia  (IAGP)
Hypocalcemic seizures  (IAGP)
Hypocitraturia  (IAGP)
Hypomagnesemia  (IAGP)
Hypomature enamel  (IAGP)
Hyposthenuria  (IAGP)
Increased circulating beta-C-terminal telopeptide concentration  (IAGP)
Infantile onset  (IAGP)
Juvenile onset  (IAGP)
Low serum calcitriol  (IAGP)
Macroscopic hematuria  (IAGP)
Microscopic hematuria  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nystagmus  (IAGP)
Polydipsia  (IAGP)
Polyuria  (IAGP)
Proteinuria  (IAGP)
Recurrent urinary tract infections  (IAGP)
Renal calcium wasting  (IAGP)
Renal insufficiency  (IAGP)
Renal magnesium wasting  (IAGP)
Rickets  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short metacarpal  (IAGP)
Short stature  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Sterile pyuria  (IAGP)
Strabismus  (IAGP)
Tetany  (IAGP)
Vomiting  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Dysfunction of paracellin-1 by dephosphorylation in Dahl salt-sensitive hypertensive rats. Ikari A, etal., J Physiol Sci. 2006 Oct;56(5):379-83. Epub 2006 Sep 9.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Simon DB, etal., Science. 1999 Jul 2;285(5424):103-6.
Additional References at PubMed
PMID:668721   PMID:8889548   PMID:10690502   PMID:10878661   PMID:11247307   PMID:11283726   PMID:11518780   PMID:12231346   PMID:12475568   PMID:12477932   PMID:12736707   PMID:14628289  
PMID:15489334   PMID:16234325   PMID:16528408   PMID:16924549   PMID:17207965   PMID:17551748   PMID:18003771   PMID:18036336   PMID:18188451   PMID:18442037   PMID:18816383   PMID:19082451  
PMID:19165416   PMID:19695239   PMID:19706201   PMID:19706394   PMID:20511716   PMID:20664984   PMID:21186073   PMID:21669885   PMID:21717372   PMID:21832049   PMID:21848011   PMID:21873635  
PMID:22373575   PMID:22422540   PMID:24321194   PMID:24659781   PMID:25477417   PMID:25557732   PMID:26426912   PMID:27067446   PMID:28028216   PMID:28623232   PMID:29967939   PMID:30232134  
PMID:30576809   PMID:30621608   PMID:31357502   PMID:35714216  


Genomics

Comparative Map Data
CLDN16
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383190,290,361 - 190,412,138 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3190,322,541 - 190,412,138 (+)EnsemblGRCh38hg38GRCh38
GRCh373190,008,150 - 190,129,927 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363191,588,535 - 191,611,027 (+)NCBINCBI36Build 36hg18NCBI36
Build 343191,588,542 - 191,611,035NCBI
Celera3188,536,131 - 188,560,428 (+)NCBICelera
Cytogenetic Map3q28NCBI
HuRef3187,505,460 - 187,529,668 (+)NCBIHuRef
CHM1_13190,068,819 - 190,093,110 (+)NCBICHM1_1
T2T-CHM13v2.03193,106,655 - 193,228,453 (+)NCBIT2T-CHM13v2.0
Cldn16
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391626,281,885 - 26,301,515 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1626,281,885 - 26,301,515 (+)EnsemblGRCm39 Ensembl
GRCm381626,463,135 - 26,482,765 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1626,463,135 - 26,482,765 (+)EnsemblGRCm38mm10GRCm38
MGSCv371626,463,246 - 26,482,853 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361626,378,509 - 26,398,125 (+)NCBIMGSCv36mm8
Celera1627,006,449 - 27,026,198 (+)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1618.1NCBI
Cldn16
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81187,795,106 - 87,814,396 (-)NCBIGRCr8
mRatBN7.21174,290,298 - 74,309,588 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1174,290,298 - 74,309,588 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1183,098,900 - 83,118,197 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01175,733,942 - 75,753,237 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01174,795,644 - 74,814,832 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01177,683,942 - 77,703,232 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1177,681,794 - 77,703,255 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01183,013,610 - 83,035,155 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41176,313,985 - 76,334,074 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11176,371,576 - 76,391,663 (-)NCBI
Celera1173,208,029 - 73,227,202 (-)NCBICelera
Cytogenetic Map11q22NCBI
Cldn16
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542017,693,573 - 17,715,211 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542017,684,752 - 17,714,639 (-)NCBIChiLan1.0ChiLan1.0
CLDN16
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22188,257,031 - 188,282,805 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13188,261,748 - 188,287,522 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03187,141,710 - 187,436,909 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13195,964,400 - 195,990,065 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3195,964,178 - 195,990,065 (+)Ensemblpanpan1.1panPan2
CLDN16
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13422,392,108 - 22,414,250 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3422,317,474 - 22,412,665 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3426,433,682 - 26,507,764 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03422,274,616 - 22,348,804 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3422,252,125 - 22,347,219 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13422,295,774 - 22,370,096 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03422,282,808 - 22,357,000 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03422,524,777 - 22,598,893 (+)NCBIUU_Cfam_GSD_1.0
Cldn16
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602113,913,789 - 113,933,582 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365785,774 - 25,350 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365785,774 - 25,621 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CLDN16
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13127,808,599 - 127,830,717 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113127,808,599 - 127,831,081 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213137,065,482 - 137,087,589 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CLDN16
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11584,529,660 - 84,619,707 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1584,593,857 - 84,619,660 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604158,118,538 - 58,210,830 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cldn16
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473066,741,550 - 66,768,921 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473066,741,687 - 66,768,589 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CLDN16
292 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006580.4(CLDN16):c.171G>A (p.Gly57=) single nucleotide variant not provided [RCV000914417] Chr3:190402393 [GRCh38]
Chr3:190120182 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter) single nucleotide variant Primary hypomagnesemia [RCV000023358] Chr3:190409941 [GRCh38]
Chr3:190127730 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) single nucleotide variant Primary hypomagnesemia [RCV000006288]|not provided [RCV002512826] Chr3:190404779 [GRCh38]
Chr3:190122568 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg) single nucleotide variant Primary hypomagnesemia [RCV000006289]|not provided [RCV001851693] Chr3:190408436 [GRCh38]
Chr3:190126225 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg) single nucleotide variant Primary hypomagnesemia [RCV000006290] Chr3:190404905 [GRCh38]
Chr3:190122694 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) single nucleotide variant Primary hypomagnesemia [RCV000006291] Chr3:190408314 [GRCh38]
Chr3:190126103 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_006580.4(CLDN16):c.2T>G (p.Met1Arg) single nucleotide variant Primary hypomagnesemia [RCV000006292] Chr3:190388331 [GRCh38]
Chr3:190106120 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro) single nucleotide variant Primary hypomagnesemia [RCV000006293] Chr3:190404834 [GRCh38]
Chr3:190122623 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys) single nucleotide variant Nephrocalcinosis [RCV000662319]|Primary hypomagnesemia [RCV000006294] Chr3:190408416 [GRCh38]
Chr3:190126205 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic|uncertain significance
NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp) single nucleotide variant Primary hypomagnesemia [RCV000006295] Chr3:190408419 [GRCh38]
Chr3:190126208 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe) single nucleotide variant Primary hypomagnesemia [RCV000006296] Chr3:190408425 [GRCh38]
Chr3:190126214 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) single nucleotide variant Primary hypomagnesemia [RCV000006297]|not provided [RCV001093267] Chr3:190404787 [GRCh38]
Chr3:190122576 [GRCh37]
Chr3:3q28		 pathogenic|conflicting interpretations of pathogenicity
NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp) single nucleotide variant Primary hypomagnesemia [RCV000006298] Chr3:190404786 [GRCh38]
Chr3:190122575 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro) single nucleotide variant Primary hypomagnesemia [RCV000006299]|not provided [RCV001851694] Chr3:190404768 [GRCh38]
Chr3:190122557 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter) single nucleotide variant Primary hypomagnesemia [RCV000006300] Chr3:190402362 [GRCh38]
Chr3:190120151 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe) single nucleotide variant Primary hypomagnesemia [RCV000006301] Chr3:190408384 [GRCh38]
Chr3:190126173 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.698C>G (p.Thr233Arg) single nucleotide variant Hypercalciuria, childhood, self-limiting [RCV000006302] Chr3:190410026 [GRCh38]
Chr3:190127815 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter) single nucleotide variant Primary hypomagnesemia [RCV000006303] Chr3:190409949 [GRCh38]
Chr3:190127738 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.3(CLDN16):c.324+3013G>A single nucleotide variant Lung cancer [RCV000093393] Chr3:190391456 [GRCh38]
Chr3:190109245 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh38/hg38 3q28(chr3:190233992-190498928)x3 copy number gain See cases [RCV000051562] Chr3:190233992..190498928 [GRCh38]
Chr3:189951781..190216717 [GRCh37]
Chr3:191434475..191699411 [NCBI36]
Chr3:3q28		 uncertain significance
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28		 pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 copy number loss See cases [RCV000051611] Chr3:187446231..190839052 [GRCh38]
Chr3:187164019..190556841 [GRCh37]
Chr3:188646713..192039535 [NCBI36]
Chr3:3q27.3-28		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 copy number loss See cases [RCV000143464] Chr3:187434386..192142942 [GRCh38]
Chr3:187152174..191860731 [GRCh37]
Chr3:188634868..193343425 [NCBI36]
Chr3:3q27.3-28		 likely pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys) single nucleotide variant Primary hypomagnesemia [RCV000260809]|not provided [RCV000905980] Chr3:190409948 [GRCh38]
Chr3:190127737 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_006580.4(CLDN16):c.*204C>T single nucleotide variant Primary hypomagnesemia [RCV000261849]|not provided [RCV002225604] Chr3:190410240 [GRCh38]
Chr3:190128029 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.-45del deletion Primary hypomagnesemia [RCV000345256]|not provided [RCV001520212]|not specified [RCV000371570] Chr3:190388283 [GRCh38]
Chr3:190106072 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.3(CLDN16):c.-6C>T single nucleotide variant Primary hypomagnesemia [RCV000284333] Chr3:190388114 [GRCh38]
Chr3:190105903 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.114+10T>C single nucleotide variant Primary hypomagnesemia [RCV000399824]|not provided [RCV001509688]|not specified [RCV000244453] Chr3:190388453 [GRCh38]
Chr3:190106242 [GRCh37]
Chr3:3q28		 benign
GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1 copy number loss See cases [RCV000240447] Chr3:186291045..191037240 [GRCh37]
Chr3:3q27.3-28		 pathogenic
NM_006580.4(CLDN16):c.*1453G>C single nucleotide variant Primary hypomagnesemia [RCV000266273] Chr3:190411489 [GRCh38]
Chr3:190129278 [GRCh37]
Chr3:3q28		 benign|uncertain significance
NM_006580.4(CLDN16):c.*2098T>G single nucleotide variant Primary hypomagnesemia [RCV000273196]|not provided [RCV004716062] Chr3:190412134 [GRCh38]
Chr3:190129923 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.*1178C>T single nucleotide variant Primary hypomagnesemia [RCV000314143] Chr3:190411214 [GRCh38]
Chr3:190129003 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.4(CLDN16):c.114+13C>G single nucleotide variant Primary hypomagnesemia [RCV000315060]|not provided [RCV002057872] Chr3:190388456 [GRCh38]
Chr3:190106245 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.4(CLDN16):c.*1348A>G single nucleotide variant Primary hypomagnesemia [RCV000301395] Chr3:190411384 [GRCh38]
Chr3:190129173 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1491A>G single nucleotide variant Primary hypomagnesemia [RCV000302143] Chr3:190411527 [GRCh38]
Chr3:190129316 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1313G>A single nucleotide variant Primary hypomagnesemia [RCV000336361] Chr3:190411349 [GRCh38]
Chr3:190129138 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.3(CLDN16):c.-3A>T single nucleotide variant CLDN16-related disorder [RCV003950211]|Primary hypomagnesemia [RCV000379857]|not provided [RCV002280116] Chr3:190388117 [GRCh38]
Chr3:190105906 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.4(CLDN16):c.*794T>C single nucleotide variant Primary hypomagnesemia [RCV000287462]|not provided [RCV004716059] Chr3:190410830 [GRCh38]
Chr3:190128619 [GRCh37]
Chr3:3q28		 benign
NM_006580.3(CLDN16):c.-136T>C single nucleotide variant Primary hypomagnesemia [RCV000319167] Chr3:190387984 [GRCh38]
Chr3:190105773 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1779A>C single nucleotide variant Primary hypomagnesemia [RCV000381657]|not provided [RCV004717482] Chr3:190411815 [GRCh38]
Chr3:190129604 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.3(CLDN16):c.-5G>A single nucleotide variant Primary hypomagnesemia [RCV000339326] Chr3:190388115 [GRCh38]
Chr3:190105904 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*907A>G single nucleotide variant Primary hypomagnesemia [RCV000383081]|not provided [RCV004716060] Chr3:190410943 [GRCh38]
Chr3:190128732 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.*243C>T single nucleotide variant Primary hypomagnesemia [RCV000321736]|not provided [RCV004716058] Chr3:190410279 [GRCh38]
Chr3:190128068 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.*965G>A single nucleotide variant Primary hypomagnesemia [RCV000293483] Chr3:190411001 [GRCh38]
Chr3:190128790 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1763T>A single nucleotide variant Primary hypomagnesemia [RCV000327086]|not provided [RCV004717481] Chr3:190411799 [GRCh38]
Chr3:190129588 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu) single nucleotide variant Primary hypomagnesemia [RCV000346413]|not provided [RCV000974602] Chr3:190388374 [GRCh38]
Chr3:190106163 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.-45G>C single nucleotide variant Primary hypomagnesemia [RCV000390314]|not provided [RCV001520213]|not specified [RCV000616416] Chr3:190388285 [GRCh38]
Chr3:190106074 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro) single nucleotide variant CLDN16-related disorder [RCV004758687]|Primary hypomagnesemia [RCV000310282] Chr3:190388346 [GRCh38]
Chr3:190106135 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*842C>T single nucleotide variant Primary hypomagnesemia [RCV000347137]|not provided [RCV004717480] Chr3:190410878 [GRCh38]
Chr3:190128667 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.*1117G>A single nucleotide variant Primary hypomagnesemia [RCV000349245]|not provided [RCV004716061] Chr3:190411153 [GRCh38]
Chr3:190128942 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.117G>A (p.Val39=) single nucleotide variant Primary hypomagnesemia [RCV000369762]|not provided [RCV000921476] Chr3:190402339 [GRCh38]
Chr3:190120128 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys) single nucleotide variant Primary hypomagnesemia [RCV000297264] Chr3:190409998 [GRCh38]
Chr3:190127787 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1733A>G single nucleotide variant Primary hypomagnesemia [RCV000267352] Chr3:190411769 [GRCh38]
Chr3:190129558 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*724A>C single nucleotide variant Primary hypomagnesemia [RCV000267643] Chr3:190410760 [GRCh38]
Chr3:190128549 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1559C>A single nucleotide variant Primary hypomagnesemia [RCV000361582] Chr3:190411595 [GRCh38]
Chr3:190129384 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*768del deletion Primary hypomagnesemia [RCV000382082] Chr3:190410804 [GRCh38]
Chr3:190128593 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1170G>A single nucleotide variant Primary hypomagnesemia [RCV000401121] Chr3:190411206 [GRCh38]
Chr3:190128995 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1333A>G single nucleotide variant Primary hypomagnesemia [RCV000401430] Chr3:190411369 [GRCh38]
Chr3:190129158 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs) deletion Primary hypomagnesemia [RCV000285445] Chr3:190388155 [GRCh38]
Chr3:190105944 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*761A>G single nucleotide variant Primary hypomagnesemia [RCV000322837] Chr3:190410797 [GRCh38]
Chr3:190128586 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.3(CLDN16):c.-82A>G single nucleotide variant Primary hypomagnesemia [RCV000373866] Chr3:190388038 [GRCh38]
Chr3:190105827 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1377T>A single nucleotide variant Primary hypomagnesemia [RCV000356331] Chr3:190411413 [GRCh38]
Chr3:190129202 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*74A>G single nucleotide variant Primary hypomagnesemia [RCV000356725] Chr3:190410110 [GRCh38]
Chr3:190127899 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*249G>A single nucleotide variant Primary hypomagnesemia [RCV000376270] Chr3:190410285 [GRCh38]
Chr3:190128074 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
NM_006580.4(CLDN16):c.87G>C (p.Trp29Cys) single nucleotide variant not provided [RCV000483531] Chr3:190388416 [GRCh38]
Chr3:190106205 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.468del (p.Gly157fs) deletion Primary hypomagnesemia [RCV000505624] Chr3:190408398 [GRCh38]
Chr3:190126187 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer) duplication Primary hypomagnesemia [RCV000656737] Chr3:190404877..190404878 [GRCh38]
Chr3:190122666..190122667 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_021101.5(CLDN1):c.289G>A (p.Val97Met) single nucleotide variant Inborn genetic diseases [RCV003295116] Chr3:190312971 [GRCh38]
Chr3:190030760 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) single nucleotide variant Primary hypomagnesemia [RCV000656736] Chr3:190402428 [GRCh38]
Chr3:190120217 [GRCh37]
Chr3:3q28		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q26.33-28(chr3:182650681-191275809)x1 copy number loss not provided [RCV000682337] Chr3:182650681..191275809 [GRCh37]
Chr3:3q26.33-28		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) single nucleotide variant Primary hypomagnesemia [RCV000678491] Chr3:190408323 [GRCh38]
Chr3:190126112 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.-143_-141del deletion not provided [RCV000722670] Chr3:190388186..190388188 [GRCh38]
Chr3:190105975..190105977 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_006580.4(CLDN16):c.574+117A>G single nucleotide variant not provided [RCV001643753] Chr3:190408622 [GRCh38]
Chr3:190126411 [GRCh37]
Chr3:3q28		 benign
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_006580.4(CLDN16):c.218-219A>G single nucleotide variant not provided [RCV001680527] Chr3:190404543 [GRCh38]
Chr3:190122332 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.217+5G>A single nucleotide variant Primary hypomagnesemia [RCV000853501] Chr3:190402444 [GRCh38]
Chr3:190120233 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) single nucleotide variant Primary hypomagnesemia [RCV001564039] Chr3:190404780 [GRCh38]
Chr3:190122569 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.218-303T>G single nucleotide variant not provided [RCV001585268] Chr3:190404459 [GRCh38]
Chr3:190122248 [GRCh37]
Chr3:3q28		 likely benign
NC_000003.12:g.(?_187222939)_(194312782_?)del deletion Schizophrenia [RCV000754274] Chr3:187222939..194312782 [GRCh38]
Chr3:3q27.3-29		 likely pathogenic
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) single nucleotide variant Primary hypomagnesemia [RCV001568363] Chr3:190402359 [GRCh38]
Chr3:190120148 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) single nucleotide variant Primary hypomagnesemia [RCV001568368] Chr3:190388432 [GRCh38]
Chr3:190106221 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_006580.4(CLDN16):c.*1552T>G single nucleotide variant Primary hypomagnesemia [RCV001146102] Chr3:190411588 [GRCh38]
Chr3:190129377 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1793G>C single nucleotide variant Primary hypomagnesemia [RCV001146103] Chr3:190411829 [GRCh38]
Chr3:190129618 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.355G>T (p.Val119Phe) single nucleotide variant not provided [RCV001038625] Chr3:190404899 [GRCh38]
Chr3:190122688 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.477A>G (p.Gln159=) single nucleotide variant not provided [RCV001046384] Chr3:190408408 [GRCh38]
Chr3:190126197 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.165T>C (p.Phe55=) single nucleotide variant Primary hypomagnesemia [RCV002495360]|not provided [RCV000885177] Chr3:190402387 [GRCh38]
Chr3:190120176 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.672G>A (p.Glu224=) single nucleotide variant not provided [RCV000910030] Chr3:190410000 [GRCh38]
Chr3:190127789 [GRCh37]
Chr3:3q28		 likely benign
GRCh37/hg19 3q28(chr3:190110813-190149597)x1 copy number loss not provided [RCV000848390] Chr3:190110813..190149597 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_006580.4(CLDN16):c.*586G>T single nucleotide variant Primary hypomagnesemia [RCV001148778] Chr3:190410622 [GRCh38]
Chr3:190128411 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1817T>C single nucleotide variant Primary hypomagnesemia [RCV001148897] Chr3:190411853 [GRCh38]
Chr3:190129642 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*2014T>C single nucleotide variant Primary hypomagnesemia [RCV001148902] Chr3:190412050 [GRCh38]
Chr3:190129839 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.3(CLDN16):c.-41C>T single nucleotide variant Primary hypomagnesemia [RCV001148669]|not provided [RCV004711549] Chr3:190388079 [GRCh38]
Chr3:190105868 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.*299A>G single nucleotide variant Primary hypomagnesemia [RCV001145994] Chr3:190410335 [GRCh38]
Chr3:190128124 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1883T>G single nucleotide variant Primary hypomagnesemia [RCV001148900] Chr3:190411919 [GRCh38]
Chr3:190129708 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1952C>G single nucleotide variant Primary hypomagnesemia [RCV001148901] Chr3:190411988 [GRCh38]
Chr3:190129777 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.115-7C>T single nucleotide variant not provided [RCV000919849] Chr3:190402330 [GRCh38]
Chr3:190120119 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.*1833G>A single nucleotide variant Primary hypomagnesemia [RCV001148898] Chr3:190411869 [GRCh38]
Chr3:190129658 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.15G>A (p.Gly5=) single nucleotide variant not provided [RCV000911473]|not specified [RCV000249113] Chr3:190322192 [GRCh38]
Chr3:190039981 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter) single nucleotide variant not provided [RCV000579255] Chr3:190322015 [GRCh38]
Chr3:190039804 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_021101.5(CLDN1):c.388+6A>G single nucleotide variant not provided [RCV000594910] Chr3:190312866 [GRCh38]
Chr3:190030655 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.223+9A>C single nucleotide variant not provided [RCV000595962] Chr3:190321975 [GRCh38]
Chr3:190039764 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.298G>A (p.Val100Ile) single nucleotide variant CLDN1-related disorder [RCV003420297]|not provided [RCV000729877] Chr3:190312962 [GRCh38]
Chr3:190030751 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.238A>G (p.Thr80Ala) single nucleotide variant not provided [RCV000735165] Chr3:190313022 [GRCh38]
Chr3:190030811 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28(chr3:190110813-190153916)x1 copy number loss not provided [RCV000849859] Chr3:190110813..190153916 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.147G>A (p.Gly49=) single nucleotide variant not provided [RCV000973681]|not specified [RCV000370360] Chr3:190322060 [GRCh38]
Chr3:190039849 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.631G>A (p.Val211Met) single nucleotide variant not provided [RCV000597724] Chr3:190308282 [GRCh38]
Chr3:190026071 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28(chr3:189906773-190473124)x3 copy number gain See cases [RCV001194521] Chr3:189906773..190473124 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) single nucleotide variant Primary hypomagnesemia [RCV000987375] Chr3:190404926 [GRCh38]
Chr3:190122715 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) single nucleotide variant CLDN1-related disorder [RCV003957502]|not provided [RCV000393229] Chr3:190322012 [GRCh38]
Chr3:190039801 [GRCh37]
Chr3:3q28		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_021101.5(CLDN1):c.379C>A (p.Leu127Ile) single nucleotide variant not provided [RCV000594883] Chr3:190312881 [GRCh38]
Chr3:190030670 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.493C>G (p.Leu165Val) single nucleotide variant not provided [RCV000728540] Chr3:190308420 [GRCh38]
Chr3:190026209 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.413A>T (p.Tyr138Phe) single nucleotide variant Inborn genetic diseases [RCV003275288] Chr3:190408344 [GRCh38]
Chr3:190126133 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.152T>G (p.Val51Gly) single nucleotide variant Thrombocytopenia 5 [RCV004813329] Chr3:190402374 [GRCh38]
Chr3:190120163 [GRCh37]		 pathogenic
NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro) single nucleotide variant Primary hypomagnesemia [RCV002484254]|not provided [RCV001230173] Chr3:190388435 [GRCh38]
Chr3:190106224 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.99T>C (p.Ala33=) single nucleotide variant Primary hypomagnesemia [RCV001150245] Chr3:190388428 [GRCh38]
Chr3:190106217 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.473+6G>A single nucleotide variant not provided [RCV002516735]|not specified [RCV000177324] Chr3:190310163 [GRCh38]
Chr3:190027952 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_021101.5(CLDN1):c.563G>A (p.Arg188Gln) single nucleotide variant Inborn genetic diseases [RCV002532462]|not provided [RCV000595533] Chr3:190308350 [GRCh38]
Chr3:190026139 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys) single nucleotide variant Primary hypomagnesemia [RCV001144099] Chr3:190409924 [GRCh38]
Chr3:190127713 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr) single nucleotide variant Primary hypomagnesemia [RCV001144101] Chr3:190409956 [GRCh38]
Chr3:190127745 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-132G>A single nucleotide variant Primary hypomagnesemia [RCV001148670]|not provided [RCV001882457] Chr3:190388198 [GRCh38]
Chr3:190105987 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*495A>T single nucleotide variant Primary hypomagnesemia [RCV001148776] Chr3:190410531 [GRCh38]
Chr3:190128320 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_188118572)_(192126012_?)del deletion TP63-Related Spectrum Disorders [RCV003107728] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_188118572)_(192126012_?)dup duplication TP63-Related Spectrum Disorders [RCV003107730]|not provided [RCV003107731] Chr3:188118572..192126012 [GRCh37]
Chr3:3q28		 uncertain significance|no classifications from unflagged records
NM_006580.4(CLDN16):c.217+24G>T single nucleotide variant not provided [RCV001577721] Chr3:190402463 [GRCh38]
Chr3:190120252 [GRCh37]
Chr3:3q28		 likely benign
NC_000003.12:g.190322667G>A single nucleotide variant not provided [RCV001677426] Chr3:190322667 [GRCh38]
Chr3:190040456 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.474-155G>A single nucleotide variant not provided [RCV001655229] Chr3:190308594 [GRCh38]
Chr3:190026383 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.389-230T>A single nucleotide variant not provided [RCV001692574] Chr3:190310483 [GRCh38]
Chr3:190028272 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.474-268T>C single nucleotide variant not provided [RCV001670576] Chr3:190308707 [GRCh38]
Chr3:190026496 [GRCh37]
Chr3:3q28		 benign
NC_000003.12:g.190322608C>T single nucleotide variant not provided [RCV001647854] Chr3:190322608 [GRCh38]
Chr3:190040397 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.-97C>T single nucleotide variant not provided [RCV000933533] Chr3:190388233 [GRCh38]
Chr3:190106022 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp) single nucleotide variant CLDN16-related disorder [RCV003920663]|Primary hypomagnesemia [RCV001144100]|not provided [RCV000886541] Chr3:190409954 [GRCh38]
Chr3:190127743 [GRCh37]
Chr3:3q28		 benign|likely benign|uncertain significance
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_006580.4(CLDN16):c.532T>C (p.Leu178=) single nucleotide variant Primary hypomagnesemia [RCV002505331]|not provided [RCV000910258] Chr3:190408463 [GRCh38]
Chr3:190126252 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) single nucleotide variant Primary hypomagnesemia [RCV003142041]|not provided [RCV001093268] Chr3:190408368 [GRCh38]
Chr3:190126157 [GRCh37]
Chr3:3q28		 pathogenic|likely pathogenic
NM_006580.4(CLDN16):c.392G>C (p.Gly131Ala) single nucleotide variant Inborn genetic diseases [RCV002564094]|not provided [RCV001245388] Chr3:190408323 [GRCh38]
Chr3:190126112 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1872C>A single nucleotide variant Primary hypomagnesemia [RCV001148899] Chr3:190411908 [GRCh38]
Chr3:190129697 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.192C>T (p.Tyr64=) single nucleotide variant Primary hypomagnesemia [RCV001144095]|not provided [RCV003727906] Chr3:190402414 [GRCh38]
Chr3:190120203 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.4(CLDN16):c.575-7C>T single nucleotide variant Primary hypomagnesemia [RCV001144098] Chr3:190409896 [GRCh38]
Chr3:190127685 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.218-78T>G single nucleotide variant not provided [RCV001561207] Chr3:190404684 [GRCh38]
Chr3:190122473 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.-13G>C single nucleotide variant not provided [RCV001689906]|not specified [RCV000251825] Chr3:190322219 [GRCh38]
Chr3:190040008 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val) single nucleotide variant CLDN1-related disorder [RCV003930147]|not provided [RCV000316580] Chr3:190322166 [GRCh38]
Chr3:190039955 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_021101.5(CLDN1):c.242G>A (p.Arg81His) single nucleotide variant not provided [RCV000597209] Chr3:190313018 [GRCh38]
Chr3:190030807 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.432C>T (p.Ile144=) single nucleotide variant not provided [RCV000728483] Chr3:190310210 [GRCh38]
Chr3:190027999 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.618C>T (p.Ser206=) single nucleotide variant not provided [RCV000733565] Chr3:190308295 [GRCh38]
Chr3:190026084 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.364_366delinsAGA (p.Gly122Arg) indel not provided [RCV000733595] Chr3:190312894..190312896 [GRCh38]
Chr3:190030683..190030685 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.66C>T (p.Ile22=) single nucleotide variant not provided [RCV000980538] Chr3:190322141 [GRCh38]
Chr3:190039930 [GRCh37]
Chr3:3q28		 likely benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_021101.5(CLDN1):c.223+172C>G single nucleotide variant not provided [RCV001654507] Chr3:190321812 [GRCh38]
Chr3:190039601 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.224-207T>C single nucleotide variant not provided [RCV001597606] Chr3:190313243 [GRCh38]
Chr3:190031032 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.114+120A>G single nucleotide variant not provided [RCV001688853] Chr3:190388563 [GRCh38]
Chr3:190106352 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.383-186A>G single nucleotide variant not provided [RCV001717934] Chr3:190408128 [GRCh38]
Chr3:190125917 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer) deletion Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV000006461] Chr3:190322006..190322007 [GRCh38]
Chr3:190039795..190039796 [GRCh37]
Chr3:3q28		 pathogenic
NM_021101.5(CLDN1):c.358del (p.Val120fs) deletion Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV000006462] Chr3:190312902 [GRCh38]
Chr3:190030691 [GRCh37]
Chr3:3q28		 pathogenic
NM_021101.5(CLDN1):c.224-164C>T single nucleotide variant not provided [RCV001613775] Chr3:190313200 [GRCh38]
Chr3:190030989 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.564T>C (p.Tyr188=) single nucleotide variant Primary hypomagnesemia [RCV001144097] Chr3:190408495 [GRCh38]
Chr3:190126284 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr) single nucleotide variant Renal hypomagnesemia 5 with ocular involvement [RCV001195722] Chr3:190388396 [GRCh38]
Chr3:190106185 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_001378492.1(CLDN16):c.-93-707G>A single nucleotide variant not provided [RCV001609604] Chr3:190387530 [GRCh38]
Chr3:190105319 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.388+135C>T single nucleotide variant not provided [RCV001667986] Chr3:190312737 [GRCh38]
Chr3:190030526 [GRCh37]
Chr3:3q28		 benign
NC_000003.12:g.190322650C>A single nucleotide variant not provided [RCV001670385] Chr3:190322650 [GRCh38]
Chr3:190040439 [GRCh37]
Chr3:3q28		 benign
NM_001378492.1(CLDN16):c.-93-626A>G single nucleotide variant not provided [RCV001693805] Chr3:190387611 [GRCh38]
Chr3:190105400 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.-116G>T single nucleotide variant Inborn genetic diseases [RCV003373000]|Primary hypomagnesemia [RCV001148671]|not provided [RCV001858974] Chr3:190388214 [GRCh38]
Chr3:190106003 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*541A>G single nucleotide variant Primary hypomagnesemia [RCV001148777] Chr3:190410577 [GRCh38]
Chr3:190128366 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1812A>G single nucleotide variant Primary hypomagnesemia [RCV001148896] Chr3:190411848 [GRCh38]
Chr3:190129637 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) single nucleotide variant Inborn genetic diseases [RCV004032782]|Primary hypomagnesemia [RCV001150244] Chr3:190388351 [GRCh38]
Chr3:190106140 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_006580.3(CLDN16):c.-206G>T single nucleotide variant Primary hypomagnesemia [RCV001145882] Chr3:190387914 [GRCh38]
Chr3:190105703 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*181C>T single nucleotide variant Primary hypomagnesemia [RCV001145993]|not provided [RCV004711543] Chr3:190410217 [GRCh38]
Chr3:190128006 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.*493T>C single nucleotide variant Primary hypomagnesemia [RCV001145995] Chr3:190410529 [GRCh38]
Chr3:190128318 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala) single nucleotide variant Primary hypomagnesemia [RCV001144096]|not provided [RCV002032364] Chr3:190408470 [GRCh38]
Chr3:190126259 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1427A>G single nucleotide variant Primary hypomagnesemia [RCV001144207] Chr3:190411463 [GRCh38]
Chr3:190129252 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.369T>C (p.Gly123=) single nucleotide variant Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV001579232]|not provided [RCV001689713]|not specified [RCV000175932] Chr3:190312891 [GRCh38]
Chr3:190030680 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.370G>A (p.Ala124Thr) single nucleotide variant not provided [RCV000892338]|not specified [RCV000244049] Chr3:190312890 [GRCh38]
Chr3:190030679 [GRCh37]
Chr3:3q28		 benign|likely benign
NM_021101.5(CLDN1):c.108C>T (p.Ala36=) single nucleotide variant not provided [RCV002058306]|not specified [RCV000244356] Chr3:190322099 [GRCh38]
Chr3:190039888 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.111C>A (p.Gly37=) single nucleotide variant not provided [RCV000592597] Chr3:190322096 [GRCh38]
Chr3:190039885 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.388+4A>G single nucleotide variant not provided [RCV000729100] Chr3:190312868 [GRCh38]
Chr3:190030657 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.382C>T (p.Leu128Phe) single nucleotide variant not provided [RCV000730129] Chr3:190312878 [GRCh38]
Chr3:190030667 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.14G>T (p.Gly5Val) single nucleotide variant not provided [RCV000730737] Chr3:190322193 [GRCh38]
Chr3:190039982 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.500C>T (p.Thr167Ile) single nucleotide variant not provided [RCV000732139] Chr3:190308413 [GRCh38]
Chr3:190026202 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.3(CLDN16):c.-155C>T single nucleotide variant Primary hypomagnesemia [RCV001148668] Chr3:190387965 [GRCh38]
Chr3:190105754 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*769A>C single nucleotide variant Primary hypomagnesemia [RCV001148779] Chr3:190410805 [GRCh38]
Chr3:190128594 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1234A>C single nucleotide variant Primary hypomagnesemia [RCV001144206] Chr3:190411270 [GRCh38]
Chr3:190129059 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.*1022G>A single nucleotide variant Primary hypomagnesemia [RCV001253910] Chr3:190411058 [GRCh38]
Chr3:190128847 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1145A>G single nucleotide variant Primary hypomagnesemia [RCV001253911] Chr3:190411181 [GRCh38]
Chr3:190128970 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*868A>C single nucleotide variant Primary hypomagnesemia [RCV001253970] Chr3:190410904 [GRCh38]
Chr3:190128693 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.*1156G>A single nucleotide variant Primary hypomagnesemia [RCV001253912] Chr3:190411192 [GRCh38]
Chr3:190128981 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs) insertion Primary hypomagnesemia [RCV001263013] Chr3:190404824..190404825 [GRCh38]
Chr3:190122613..190122614 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4:c.(?_598)_(900_?)del deletion Primary hypomagnesemia [RCV001270245]   pathogenic
NM_006580.4(CLDN16):c.62T>C (p.Ile21Thr) single nucleotide variant not provided [RCV001326131] Chr3:190388391 [GRCh38]
Chr3:190106180 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) single nucleotide variant Inborn genetic diseases [RCV002570440]|Primary hypomagnesemia [RCV001281173]|not provided [RCV001879805] Chr3:190408389 [GRCh38]
Chr3:190126178 [GRCh37]
Chr3:3q28		 likely pathogenic|uncertain significance
NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter) single nucleotide variant Primary hypomagnesemia [RCV001329584] Chr3:190402352 [GRCh38]
Chr3:190120141 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) single nucleotide variant Primary hypomagnesemia [RCV001329583] Chr3:190388331 [GRCh38]
Chr3:190106120 [GRCh37]
Chr3:3q28		 pathogenic|conflicting interpretations of pathogenicity
NM_006580.4(CLDN16):c.218-10G>A single nucleotide variant Primary hypomagnesemia [RCV001329585] Chr3:190404752 [GRCh38]
Chr3:190122541 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.639C>T (p.Ser213=) single nucleotide variant not provided [RCV001506064] Chr3:190409967 [GRCh38]
Chr3:190127756 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.*102G>A single nucleotide variant not provided [RCV001541359] Chr3:190308175 [GRCh38]
Chr3:190025964 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.575-179A>T single nucleotide variant not provided [RCV001593565] Chr3:190409724 [GRCh38]
Chr3:190127513 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.*261C>A single nucleotide variant not provided [RCV001675323] Chr3:190308016 [GRCh38]
Chr3:190025805 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.504C>G (p.Leu168=) single nucleotide variant not provided [RCV001466069] Chr3:190408435 [GRCh38]
Chr3:190126224 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.366G>A (p.Gly122=) single nucleotide variant not provided [RCV001710666] Chr3:190312894 [GRCh38]
Chr3:190030683 [GRCh37]
Chr3:3q28		 benign
NM_006580.4(CLDN16):c.114+100T>A single nucleotide variant not provided [RCV001672396] Chr3:190388543 [GRCh38]
Chr3:190106332 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.-212G>T single nucleotide variant not provided [RCV001673976] Chr3:190322418 [GRCh38]
Chr3:190040207 [GRCh37]
Chr3:3q28		 benign
NM_001378492.1(CLDN16):c.-93-575C>T single nucleotide variant not provided [RCV001708361] Chr3:190387662 [GRCh38]
Chr3:190105451 [GRCh37]
Chr3:3q28		 benign
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) single nucleotide variant Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV001780515] Chr3:190322066 [GRCh38]
Chr3:190039855 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile) single nucleotide variant Primary hypomagnesemia [RCV001733637] Chr3:190408397 [GRCh38]
Chr3:190126186 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.149G>A (p.Cys50Tyr) single nucleotide variant not provided [RCV001758778] Chr3:190402371 [GRCh38]
Chr3:190120160 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.172A>T (p.Ser58Cys) single nucleotide variant not provided [RCV001767277] Chr3:190322035 [GRCh38]
Chr3:190039824 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) single nucleotide variant Primary hypomagnesemia [RCV001780794] Chr3:190408425 [GRCh38]
Chr3:190126214 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_006580.4(CLDN16):c.100G>A (p.Asp34Asn) single nucleotide variant not provided [RCV001763725] Chr3:190388429 [GRCh38]
Chr3:190106218 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.11:g.(?_189526041)_(192126012_?)dup duplication not provided [RCV001987827] Chr3:189526041..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q28(chr3:190114218-190144769)x1 copy number loss Primary hypomagnesemia [RCV001825242] Chr3:190114218..190144769 [GRCh37]
Chr3:3q28		 not provided
NM_006580.4(CLDN16):c.115-30G>A single nucleotide variant not provided [RCV001837708] Chr3:190402307 [GRCh38]
Chr3:190120096 [GRCh37]
Chr3:3q28		 likely benign
GRCh37/hg19 3q28(chr3:189910071-190132466) copy number gain not specified [RCV002053399] Chr3:189910071..190132466 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly) single nucleotide variant Primary hypomagnesemia [RCV001825243] Chr3:190402370 [GRCh38]
Chr3:190120159 [GRCh37]
Chr3:3q28		 not provided
NM_006580.4(CLDN16):c.562T>C (p.Tyr188His) single nucleotide variant Inborn genetic diseases [RCV002557595]|Primary hypomagnesemia [RCV002484416]|not provided [RCV001906814] Chr3:190408493 [GRCh38]
Chr3:190126282 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-65G>A single nucleotide variant not provided [RCV002036888] Chr3:190388265 [GRCh38]
Chr3:190106054 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-98G>A single nucleotide variant not provided [RCV001993672] Chr3:190388232 [GRCh38]
Chr3:190106021 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.4A>T (p.Arg2Trp) single nucleotide variant not provided [RCV001904272] Chr3:190388333 [GRCh38]
Chr3:190106122 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-68C>A single nucleotide variant not provided [RCV002046904] Chr3:190388262 [GRCh38]
Chr3:190106051 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.217+1G>A single nucleotide variant not provided [RCV002048920] Chr3:190402440 [GRCh38]
Chr3:190120229 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_006580.4(CLDN16):c.-23A>G single nucleotide variant Inborn genetic diseases [RCV004612018]|not provided [RCV001952755] Chr3:190388307 [GRCh38]
Chr3:190106096 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.464T>C (p.Val155Ala) single nucleotide variant CLDN1-related disorder [RCV004752083]|Inborn genetic diseases [RCV004041247]|not provided [RCV001897336] Chr3:190310178 [GRCh38]
Chr3:190027967 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.415G>A (p.Ala139Thr) single nucleotide variant not provided [RCV001979241] Chr3:190408346 [GRCh38]
Chr3:190126135 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_021101.5(CLDN1):c.53G>A (p.Trp18Ter) single nucleotide variant not provided [RCV001891610] Chr3:190322154 [GRCh38]
Chr3:190039943 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.627C>T (p.Ala209=) single nucleotide variant not provided [RCV002208051] Chr3:190409955 [GRCh38]
Chr3:190127744 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.369_370inv (p.Ala124Thr) inversion not provided [RCV002126857] Chr3:190312890..190312891 [GRCh38]
Chr3:190030679..190030680 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) single nucleotide variant Primary hypomagnesemia [RCV002502045]|not provided [RCV002226068] Chr3:190408418 [GRCh38]
Chr3:190126207 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_006580.4(CLDN16):c.218-14C>T single nucleotide variant not provided [RCV002176194] Chr3:190404748 [GRCh38]
Chr3:190122537 [GRCh37]
Chr3:3q28		 likely benign
NC_000003.11:g.(?_190120106)_(190127825_?)del deletion not provided [RCV003109540] Chr3:190120106..190127825 [GRCh37]
Chr3:3q28		 pathogenic
NC_000003.11:g.(?_189455509)_(192126012_?)dup duplication not provided [RCV003109805] Chr3:189455509..192126012 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
NM_006580.4(CLDN16):c.329C>T (p.Pro110Leu) single nucleotide variant not provided [RCV002306414] Chr3:190404873 [GRCh38]
Chr3:190122662 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.518C>T (p.Ser173Phe) single nucleotide variant not provided [RCV002301449] Chr3:190408449 [GRCh38]
Chr3:190126238 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.382+8T>C single nucleotide variant not provided [RCV002616768] Chr3:190404934 [GRCh38]
Chr3:190122723 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.232A>G (p.Thr78Ala) single nucleotide variant not provided [RCV003013309] Chr3:190404776 [GRCh38]
Chr3:190122565 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.516G>T (p.Gly172=) single nucleotide variant not provided [RCV002731399] Chr3:190408447 [GRCh38]
Chr3:190126236 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.473+14G>A single nucleotide variant not provided [RCV002995410] Chr3:190310155 [GRCh38]
Chr3:190027944 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.-149G>T single nucleotide variant not provided [RCV002975001] Chr3:190388181 [GRCh38]
Chr3:190105970 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-63C>T single nucleotide variant Inborn genetic diseases [RCV002883808] Chr3:190388267 [GRCh38]
Chr3:190106056 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.611G>T (p.Arg204Met) single nucleotide variant not provided [RCV002771608] Chr3:190409939 [GRCh38]
Chr3:190127728 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.398T>C (p.Ile133Thr) single nucleotide variant not provided [RCV002681788] Chr3:190408329 [GRCh38]
Chr3:190126118 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.19T>C (p.Tyr7His) single nucleotide variant Inborn genetic diseases [RCV002996034]|not provided [RCV003011406] Chr3:190388348 [GRCh38]
Chr3:190106137 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.574+13T>C single nucleotide variant not provided [RCV002618408] Chr3:190408518 [GRCh38]
Chr3:190126307 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.-62A>G single nucleotide variant Inborn genetic diseases [RCV002777774] Chr3:190388268 [GRCh38]
Chr3:190106057 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.473+5C>T single nucleotide variant not provided [RCV002914190] Chr3:190310164 [GRCh38]
Chr3:190027953 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.591G>T (p.Arg197Ser) single nucleotide variant Inborn genetic diseases [RCV002844826] Chr3:190308322 [GRCh38]
Chr3:190026111 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.289C>G (p.Leu97Val) single nucleotide variant not provided [RCV003055804] Chr3:190404833 [GRCh38]
Chr3:190122622 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.12:g.190388141T>C single nucleotide variant not provided [RCV002705390] Chr3:190388141 [GRCh38]
Chr3:190105930 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.331G>A (p.Asp111Asn) single nucleotide variant Inborn genetic diseases [RCV002797991] Chr3:190312929 [GRCh38]
Chr3:190030718 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.207G>A (p.Ala69=) single nucleotide variant not provided [RCV002590570] Chr3:190402429 [GRCh38]
Chr3:190120218 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.114+7_114+9del microsatellite not provided [RCV002820604] Chr3:190388446..190388448 [GRCh38]
Chr3:190106235..190106237 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.541C>T (p.Leu181=) single nucleotide variant not provided [RCV003019614] Chr3:190308372 [GRCh38]
Chr3:190026161 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.371C>T (p.Ala124Val) single nucleotide variant Inborn genetic diseases [RCV002799136]|not provided [RCV004798026] Chr3:190312889 [GRCh38]
Chr3:190030678 [GRCh37]
Chr3:3q28		 likely benign|uncertain significance
NM_021101.5(CLDN1):c.525C>A (p.Cys175Ter) single nucleotide variant not provided [RCV002791382] Chr3:190308388 [GRCh38]
Chr3:190026177 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.519T>A (p.Ser173=) single nucleotide variant not provided [RCV002958076] Chr3:190408450 [GRCh38]
Chr3:190126239 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.698C>A (p.Thr233Lys) single nucleotide variant Inborn genetic diseases [RCV002665652] Chr3:190410026 [GRCh38]
Chr3:190127815 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-134G>A single nucleotide variant Inborn genetic diseases [RCV002665667] Chr3:190388196 [GRCh38]
Chr3:190105985 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.270G>A (p.Leu90=) single nucleotide variant not provided [RCV002624449] Chr3:190312990 [GRCh38]
Chr3:190030779 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.73T>G (p.Trp25Gly) single nucleotide variant not provided [RCV003022455] Chr3:190388402 [GRCh38]
Chr3:190106191 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-41G>T single nucleotide variant Inborn genetic diseases [RCV003294520]|not provided [RCV002574607] Chr3:190388289 [GRCh38]
Chr3:190106078 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.41C>A (p.Ala14Asp) single nucleotide variant Inborn genetic diseases [RCV002875187] Chr3:190322166 [GRCh38]
Chr3:190039955 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV002651767] Chr3:190388330 [GRCh38]
Chr3:190106119 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-41G>C single nucleotide variant not provided [RCV002806790] Chr3:190388289 [GRCh38]
Chr3:190106078 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.383-13C>G single nucleotide variant not provided [RCV002715403] Chr3:190408301 [GRCh38]
Chr3:190126090 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.460A>G (p.Ile154Val) single nucleotide variant not provided [RCV002649655] Chr3:190408391 [GRCh38]
Chr3:190126180 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.224-5G>A single nucleotide variant not provided [RCV002646698] Chr3:190313041 [GRCh38]
Chr3:190030830 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.203A>C (p.Asp68Ala) single nucleotide variant not provided [RCV002647261] Chr3:190322004 [GRCh38]
Chr3:190039793 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-104C>T single nucleotide variant not provided [RCV002601034] Chr3:190388226 [GRCh38]
Chr3:190106015 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.575-16T>A single nucleotide variant not provided [RCV002658382] Chr3:190409887 [GRCh38]
Chr3:190127676 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.210G>A (p.Glu70=) single nucleotide variant not provided [RCV002635492] Chr3:190402432 [GRCh38]
Chr3:190120221 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.150C>T (p.Cys50=) single nucleotide variant not provided [RCV003070080] Chr3:190402372 [GRCh38]
Chr3:190120161 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.610C>A (p.Pro204Thr) single nucleotide variant Inborn genetic diseases [RCV004064629]|not provided [RCV002589612] Chr3:190308303 [GRCh38]
Chr3:190026092 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.314T>C (p.Met105Thr) single nucleotide variant not provided [RCV002606794] Chr3:190312946 [GRCh38]
Chr3:190030735 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.687T>C (p.Tyr229=) single nucleotide variant not provided [RCV002606855] Chr3:190410015 [GRCh38]
Chr3:190127804 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.547C>T (p.Leu183Phe) single nucleotide variant not provided [RCV002609117] Chr3:190408478 [GRCh38]
Chr3:190126267 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.588G>C (p.Glu196Asp) single nucleotide variant not provided [RCV002635210] Chr3:190409916 [GRCh38]
Chr3:190127705 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-25C>G single nucleotide variant Inborn genetic diseases [RCV003217665] Chr3:190388305 [GRCh38]
Chr3:190106094 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.37G>A (p.Ala13Thr) single nucleotide variant Inborn genetic diseases [RCV003206121] Chr3:190388366 [GRCh38]
Chr3:190106155 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.470G>A (p.Gly157Asp) single nucleotide variant Inborn genetic diseases [RCV003186528] Chr3:190408401 [GRCh38]
Chr3:190126190 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe) single nucleotide variant Primary hypomagnesemia [RCV003337757] Chr3:190388376 [GRCh38]
Chr3:190106165 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.60C>T (p.Gly20=) single nucleotide variant CLDN1-related disorder [RCV003893344]|not provided [RCV003734804] Chr3:190322147 [GRCh38]
Chr3:190039936 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.150G>T (p.Leu50=) single nucleotide variant not provided [RCV003690694] Chr3:190322057 [GRCh38]
Chr3:190039846 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.510T>G (p.Ala170=) single nucleotide variant not provided [RCV003701044] Chr3:190308403 [GRCh38]
Chr3:190026192 [GRCh37]
Chr3:3q28		 likely benign
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_021101.5(CLDN1):c.263T>A (p.Ile88Asn) single nucleotide variant CLDN1-related disorder [RCV003402843] Chr3:190312997 [GRCh38]
Chr3:190030786 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.39_50del (p.Phe14_Ala17del) deletion not provided [RCV003712723] Chr3:190388365..190388376 [GRCh38]
Chr3:190106154..190106165 [GRCh37]
Chr3:3q28		 uncertain significance
NC_000003.12:g.190388146T>C single nucleotide variant not provided [RCV003554611] Chr3:190388146 [GRCh38]
Chr3:190105935 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.372G>A (p.Ala124=) single nucleotide variant not provided [RCV003826399] Chr3:190312888 [GRCh38]
Chr3:190030677 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.231G>A (p.Leu77=) single nucleotide variant not provided [RCV003573232] Chr3:190313029 [GRCh38]
Chr3:190030818 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.675G>A (p.Thr225=) single nucleotide variant not provided [RCV003852072] Chr3:190410003 [GRCh38]
Chr3:190127792 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.674C>T (p.Thr225Met) single nucleotide variant not provided [RCV003814443] Chr3:190410002 [GRCh38]
Chr3:190127791 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-18G>T single nucleotide variant not provided [RCV003834017] Chr3:190388312 [GRCh38]
Chr3:190106101 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.53G>A (p.Gly18Glu) single nucleotide variant not provided [RCV003555120] Chr3:190388382 [GRCh38]
Chr3:190106171 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.189G>A (p.Glu63=) single nucleotide variant not provided [RCV003844982] Chr3:190402411 [GRCh38]
Chr3:190120200 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.324T>C (p.Asp108=) single nucleotide variant not provided [RCV003732128] Chr3:190404868 [GRCh38]
Chr3:190122657 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.15T>C (p.Leu5=) single nucleotide variant not provided [RCV003872076] Chr3:190388344 [GRCh38]
Chr3:190106133 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.641T>C (p.Met214Thr) single nucleotide variant not provided [RCV003684633] Chr3:190409969 [GRCh38]
Chr3:190127758 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.699A>C (p.Thr233=) single nucleotide variant not provided [RCV003568711] Chr3:190410027 [GRCh38]
Chr3:190127816 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.240G>A (p.Ala80=) single nucleotide variant not provided [RCV003823432] Chr3:190404784 [GRCh38]
Chr3:190122573 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.281C>A (p.Ala94Glu) single nucleotide variant CLDN1-related disorder [RCV003982629] Chr3:190312979 [GRCh38]
Chr3:190030768 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.574+2T>C single nucleotide variant Primary hypomagnesemia [RCV003994626] Chr3:190408507 [GRCh38]
Chr3:190126296 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_021101.5(CLDN1):c.299T>C (p.Val100Ala) single nucleotide variant Inborn genetic diseases [RCV004444294] Chr3:190312961 [GRCh38]
Chr3:190030750 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.271G>A (p.Gly91Arg) single nucleotide variant Inborn genetic diseases [RCV004444293] Chr3:190312989 [GRCh38]
Chr3:190030778 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.433G>A (p.Val145Ile) single nucleotide variant Inborn genetic diseases [RCV004444295]|not provided [RCV004790669] Chr3:190310209 [GRCh38]
Chr3:190027998 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.484G>T (p.Gly162Cys) single nucleotide variant Inborn genetic diseases [RCV004444296] Chr3:190308429 [GRCh38]
Chr3:190026218 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.74C>T (p.Thr25Ile) single nucleotide variant Inborn genetic diseases [RCV004444297] Chr3:190322133 [GRCh38]
Chr3:190039922 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.18G>C (p.Leu6=) single nucleotide variant CLDN1-related disorder [RCV003959803] Chr3:190322189 [GRCh38]
Chr3:190039978 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.-140A>G single nucleotide variant Inborn genetic diseases [RCV004444314] Chr3:190388190 [GRCh38]
Chr3:190105979 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.623C>A (p.Ser208Ter) single nucleotide variant Primary hypomagnesemia [RCV004555322] Chr3:190409951 [GRCh38]
Chr3:190127740 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-65G>T single nucleotide variant Inborn genetic diseases [RCV004444311] Chr3:190388265 [GRCh38]
Chr3:190106054 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.-47G>A single nucleotide variant Inborn genetic diseases [RCV004444312] Chr3:190388283 [GRCh38]
Chr3:190106072 [GRCh37]
Chr3:3q28		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_006580.4(CLDN16):c.382+5C>T single nucleotide variant CLDN16-related disorder [RCV003977046] Chr3:190404931 [GRCh38]
Chr3:190122720 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.408C>T (p.Ala136=) single nucleotide variant CLDN1-related disorder [RCV003983657] Chr3:190310234 [GRCh38]
Chr3:190028023 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter) single nucleotide variant Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV003985973] Chr3:190322188 [GRCh38]
Chr3:190039977 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_006580.4(CLDN16):c.24C>T (p.Ile8=) single nucleotide variant CLDN16-related disorder [RCV003969573] Chr3:190388353 [GRCh38]
Chr3:190106142 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.188A>G (p.Gln63Arg) single nucleotide variant CLDN1-related disorder [RCV003951521] Chr3:190322019 [GRCh38]
Chr3:190039808 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.*7G>A single nucleotide variant CLDN1-related disorder [RCV003969071] Chr3:190308270 [GRCh38]
Chr3:190026059 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.304A>C (p.Met102Leu) single nucleotide variant CLDN1-related disorder [RCV003969692] Chr3:190312956 [GRCh38]
Chr3:190030745 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.105T>C (p.Tyr35=) single nucleotide variant CLDN1-related disorder [RCV003901412] Chr3:190322102 [GRCh38]
Chr3:190039891 [GRCh37]
Chr3:3q28		 likely benign
NM_021101.5(CLDN1):c.512C>G (p.Ala171Gly) single nucleotide variant CLDN1-related disorder [RCV003897170] Chr3:190308401 [GRCh38]
Chr3:190026190 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.25G>C (p.Ala9Pro) single nucleotide variant Inborn genetic diseases [RCV004444313] Chr3:190388354 [GRCh38]
Chr3:190106143 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.77C>T (p.Thr26Ile) single nucleotide variant Primary hypomagnesemia [RCV003992010] Chr3:190388406 [GRCh38]
Chr3:190106195 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.374T>C (p.Leu125Pro) single nucleotide variant Primary hypomagnesemia [RCV004585142] Chr3:190404918 [GRCh38]
Chr3:190122707 [GRCh37]
Chr3:3q28		 pathogenic
NC_000003.11:g.(?_189357602)_(192126012_?)del deletion not provided [RCV004582289] Chr3:189357602..192126012 [GRCh37]
Chr3:3q28		 pathogenic
NC_000003.11:g.(?_190026066)_(190127825_?)del deletion not provided [RCV004582323] Chr3:190026066..190127825 [GRCh37]
Chr3:3q28		 pathogenic
NM_006580.4(CLDN16):c.283A>T (p.Thr95Ser) single nucleotide variant Inborn genetic diseases [RCV004612888] Chr3:190404827 [GRCh38]
Chr3:190122616 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.88A>G (p.Met30Val) single nucleotide variant Inborn genetic diseases [RCV004612887] Chr3:190388417 [GRCh38]
Chr3:190106206 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.-3G>A single nucleotide variant CLDN1-related disorder [RCV004752418] Chr3:190322209 [GRCh38]
Chr3:190039998 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.436C>T (p.Arg146Cys) single nucleotide variant Primary hypomagnesemia [RCV004760306] Chr3:190408367 [GRCh38]
Chr3:190126156 [GRCh37]
Chr3:3q28		 likely pathogenic
NM_021101.5(CLDN1):c.510T>C (p.Ala170=) single nucleotide variant CLDN1-related disorder [RCV004732436] Chr3:190308403 [GRCh38]
Chr3:190026192 [GRCh37]
Chr3:3q28		 likely benign
NM_006580.4(CLDN16):c.148T>C (p.Cys50Arg) single nucleotide variant Primary hypomagnesemia [RCV004771758] Chr3:190402370 [GRCh38]
Chr3:190120159 [GRCh37]
Chr3:3q28		 uncertain significance
NM_021101.5(CLDN1):c.583A>G (p.Thr195Ala) single nucleotide variant CLDN1-related disorder [RCV004752460] Chr3:190308330 [GRCh38]
Chr3:190026119 [GRCh37]
Chr3:3q28		 uncertain significance
NM_006580.4(CLDN16):c.165del (p.Phe55fs) deletion Primary hypomagnesemia [RCV004759725]   pathogenic
NM_021101.5(CLDN1):c.518C>G (p.Ser173Cys) single nucleotide variant CLDN1-related disorder [RCV004752428] Chr3:190308395 [GRCh38]
Chr3:190026184 [GRCh37]
Chr3:3q28		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1164
Count of miRNA genes:821
Interacting mature miRNAs:946
Transcripts:ENST00000264734, ENST00000456423, ENST00000468220
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
CLDN16_1935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373190,127,707 - 190,128,343UniSTSGRCh37
Build 363191,610,401 - 191,611,037RGDNCBI36
Celera3188,558,203 - 188,558,839RGD
HuRef3187,527,443 - 187,528,079UniSTS
SHGC-33716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373190,128,207 - 190,128,338UniSTSGRCh37
Build 363191,610,901 - 191,611,032RGDNCBI36
Celera3188,558,703 - 188,558,834RGD
Cytogenetic Map3q28UniSTS
HuRef3187,527,943 - 187,528,074UniSTS
Stanford-G3 RH Map38356.0UniSTS
GeneMap99-GB4 RH Map3717.54UniSTS
Whitehead-RH Map3874.5UniSTS
NCBI RH Map31920.3UniSTS
GeneMap99-G3 RH Map38826.0UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

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
renal system
reproductive system
respiratory system
sensory system
707 1062 1675 910 4662 1681 2250 4 620 972 462 1815 3874 3354 49 3460 783 1619 1545 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF034334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB241927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ305102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264734   ⟹   ENSP00000264734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,388,163 - 190,412,138 (+)Ensembl
Ensembl Acc Id: ENST00000456423   ⟹   ENSP00000414136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,388,120 - 190,410,008 (+)Ensembl
Ensembl Acc Id: ENST00000468220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,322,541 - 190,404,930 (+)Ensembl
RefSeq Acc Id: NM_001378492   ⟹   NP_001365421
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,290,361 - 190,412,138 (+)NCBI
T2T-CHM13v2.03193,106,655 - 193,228,453 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378493   ⟹   NP_001365422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,290,361 - 190,412,138 (+)NCBI
T2T-CHM13v2.03193,106,655 - 193,228,453 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006580   ⟹   NP_006571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,388,163 - 190,412,138 (+)NCBI
GRCh373190,105,661 - 190,129,932 (+)ENTREZGENE
Build 363191,588,535 - 191,611,027 (+)NCBI Archive
HuRef3187,505,460 - 187,529,668 (+)ENTREZGENE
CHM1_13190,068,819 - 190,093,110 (+)NCBI
T2T-CHM13v2.03193,204,537 - 193,228,453 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447333   ⟹   XP_047303289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,322,558 - 190,412,138 (+)NCBI
RefSeq Acc Id: XM_054344990   ⟹   XP_054200965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03193,138,846 - 193,228,453 (+)NCBI
RefSeq Acc Id: NP_006571   ⟸   NM_006580
- UniProtKB: Q9Y5I7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001365421   ⟸   NM_001378492
- UniProtKB: Q9Y5I7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001365422   ⟸   NM_001378493
- UniProtKB: Q9Y5I7 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000414136   ⟸   ENST00000456423
Ensembl Acc Id: ENSP00000264734   ⟸   ENST00000264734
RefSeq Acc Id: XP_047303289   ⟸   XM_047447333
- Peptide Label: isoform X1
- UniProtKB: Q9Y5I7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200965   ⟸   XM_054344990
- Peptide Label: isoform X1
- UniProtKB: Q9Y5I7 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5I7-F1-model_v2 AlphaFold Q9Y5I7 1-235 view protein structure

Promoters
RGD ID:6866604
Promoter ID:EPDNEW_H6467
Type:initiation region
Name:CLDN16_2
Description:claudin 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6468  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,322,541 - 190,322,601EPDNEW
RGD ID:6866606
Promoter ID:EPDNEW_H6468
Type:initiation region
Name:CLDN16_1
Description:claudin 16
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6467  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,388,163 - 190,388,223EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2037 AgrOrtholog
COSMIC CLDN16 COSMIC
Ensembl Genes ENSG00000113946 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264734 ENTREZGENE
  ENST00000264734.3 UniProtKB/Swiss-Prot
  ENST00000456423.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.140.150 UniProtKB/Swiss-Prot
GTEx ENSG00000113946 GTEx
HGNC ID HGNC:2037 ENTREZGENE
Human Proteome Map CLDN16 Human Proteome Map
InterPro Claudin UniProtKB/Swiss-Prot
  Claudin16 UniProtKB/Swiss-Prot
  Claudin_CS UniProtKB/Swiss-Prot
  PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot
KEGG Report hsa:10686 UniProtKB/Swiss-Prot
NCBI Gene 10686 ENTREZGENE
OMIM 603959 OMIM
PANTHER PTHR12002 UniProtKB/Swiss-Prot
  PTHR12002:SF56 UniProtKB/Swiss-Prot
Pfam PMP22_Claudin UniProtKB/Swiss-Prot
PharmGKB PA26563 PharmGKB
PRINTS CLAUDIN UniProtKB/Swiss-Prot
  CLAUDIN16 UniProtKB/Swiss-Prot
PROSITE CLAUDIN UniProtKB/Swiss-Prot
UniProt CLD16_HUMAN UniProtKB/Swiss-Prot
  F6SGM4_HUMAN UniProtKB/TrEMBL
  Q9Y5I7 ENTREZGENE