CDH3 (cadherin 3) - Rat Genome Database

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Gene: CDH3 (cadherin 3) Homo sapiens
Analyze
Symbol: CDH3
Name: cadherin 3
RGD ID: 1353368
HGNC Page HGNC:1762
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Involved in several processes, including negative regulation of timing of catagen; positive regulation of cellular biosynthetic process; and positive regulation of keratinocyte proliferation. Acts upstream of with a positive effect on positive regulation of insulin-like growth factor receptor signaling pathway. Acts upstream of or within with a negative effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cell junction and plasma membrane. Implicated in congenital hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin 3, type 1, P-cadherin (placental); cadherin-3; calcium-dependent adhesion protein, placental; CDHP; HJMD; PCAD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,645,310 - 68,733,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,636,189 - 68,727,468 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,679,213 - 68,734,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,236,277 - 67,290,443 (+)NCBINCBI36Build 36hg18NCBI36
Build 341667,236,276 - 67,290,442NCBI
Celera1653,187,169 - 53,242,286 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,551,120 - 54,605,916 (+)NCBIHuRef
CHM1_11670,086,362 - 70,141,056 (+)NCBICHM1_1
T2T-CHM13v2.01674,441,601 - 74,531,453 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-nitropyrene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-acetamidofluorene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
amosite asbestos  (EXP)
apocynin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclophosphamide  (ISO)
cytarabine  (EXP)
deguelin  (EXP)
Deoxycorticosterone acetate  (ISO)
dibutyl phthalate  (ISO)
diiodine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (EXP)
folic acid  (EXP,ISO)
furan  (ISO)
glycidol  (ISO)
hexadecanoic acid  (EXP)
homocysteine  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
inulin  (ISO)
isobutanol  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
mercury dibromide  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
orphenadrine  (ISO)
p-menthan-3-ol  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
puromycin  (ISO)
rofecoxib  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
trametinib  (EXP)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
adherens junction  (IBA,IEA)
catenin complex  (IBA,IEA)
cell junction  (IDA)
cytoplasm  (IBA,IEA)
membrane  (IEA)
plasma membrane  (IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-4 finger syndactyly  (IAGP)
2-3 finger syndactyly  (IAGP)
2-4 finger syndactyly  (IAGP)
3-4 finger syndactyly  (IAGP)
3-4 toe syndactyly  (IAGP)
Abnormal dental morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal limb bone morphology  (IAGP)
Abnormal sweat gland morphology  (IAGP)
Abnormality of macular pigmentation  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of vision  (IAGP)
Absent eyebrow  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Brittle hair  (IAGP)
Camptodactyly  (IAGP)
Carious teeth  (IAGP)
Congenital onset  (IAGP)
Ectodermal dysplasia  (IAGP)
Ectrodactyly  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Freckling  (IAGP)
Hyperhidrosis  (IAGP)
Hyperkeratosis  (IAGP)
Immunodeficiency  (IAGP)
Immunologic hypersensitivity  (IAGP)
Joint contracture of the hand  (IAGP)
Macular degeneration  (IAGP)
Macular dystrophy  (IAGP)
Melanocytic nevus  (IAGP)
Microdontia  (IAGP)
Nystagmus  (IAGP)
Pili torti  (IAGP)
Prostate cancer  (IAGP)
Reduced terminal:vellus ratio  (IAGP)
Reduced visual acuity  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Rod-cone dystrophy  (IAGP)
Selective tooth agenesis  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Sparse body hair  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Split hand  (IAGP)
Strabismus  (IAGP)
Widely spaced teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). Kjaer KW, etal., J Med Genet. 2005 Apr;42(4):292-8.
3. Expression of P-cadherin distinct from that of E-cadherin in re-epithelialization in neonatal rat skin. Koizumi M, etal., Dev Growth Differ. 2005 Feb;47(2):75-85.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
Additional References at PubMed
PMID:1427864   PMID:1924379   PMID:2702654   PMID:2793940   PMID:7534041   PMID:7538474   PMID:7806582   PMID:8056851   PMID:8074995   PMID:8125298   PMID:8227214   PMID:8660921  
PMID:9069116   PMID:9250159   PMID:9359492   PMID:9615235   PMID:9815605   PMID:10381631   PMID:10460003   PMID:10655458   PMID:10910767   PMID:11066045   PMID:11106563   PMID:11401672  
PMID:11544476   PMID:11889072   PMID:11891861   PMID:11909859   PMID:12021924   PMID:12112590   PMID:12417987   PMID:12445216   PMID:12477932   PMID:12800191   PMID:12876286   PMID:12919105  
PMID:15146197   PMID:15375751   PMID:15489334   PMID:15817166   PMID:15967043   PMID:16007225   PMID:16115928   PMID:17342797   PMID:18074863   PMID:18199584   PMID:18230143   PMID:18329483  
PMID:18330089   PMID:18637117   PMID:18637128   PMID:18811693   PMID:18829530   PMID:18927288   PMID:19043399   PMID:19076794   PMID:19469909   PMID:19528483   PMID:19846933   PMID:19882246  
PMID:19901964   PMID:19915572   PMID:20118984   PMID:20140736   PMID:20203473   PMID:20204300   PMID:20338046   PMID:20385540   PMID:20473917   PMID:20621328   PMID:20668551   PMID:20844743  
PMID:20852590   PMID:20860798   PMID:21317933   PMID:21703417   PMID:21781454   PMID:21873635   PMID:22209340   PMID:22348569   PMID:22389315   PMID:22531681   PMID:22613680   PMID:22696062  
PMID:23143461   PMID:23180380   PMID:23334344   PMID:23398382   PMID:23405208   PMID:23682078   PMID:23740836   PMID:24139214   PMID:24189400   PMID:24559158   PMID:24636838   PMID:25023983  
PMID:25269858   PMID:25322858   PMID:25337260   PMID:25849494   PMID:26285159   PMID:26299056   PMID:26618866   PMID:26771841   PMID:26885695   PMID:27223886   PMID:27386845   PMID:27399126  
PMID:27456782   PMID:27545624   PMID:27576135   PMID:27684187   PMID:28084338   PMID:28295003   PMID:28514442   PMID:29161242   PMID:29338041   PMID:29438669   PMID:29571991   PMID:30006753  
PMID:30631154   PMID:30710256   PMID:31560841   PMID:31621118   PMID:31696509   PMID:31927556   PMID:31932471   PMID:31980649   PMID:32156745   PMID:32341236   PMID:32572153   PMID:32816889  
PMID:32920119   PMID:32988879   PMID:33413178   PMID:33517284   PMID:33961781   PMID:34216280   PMID:34709727   PMID:34825969   PMID:34919784   PMID:35305877   PMID:35563773   PMID:35853629  
PMID:38003666  


Genomics

Comparative Map Data
CDH3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381668,645,310 - 68,733,771 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1668,636,189 - 68,727,468 (+)EnsemblGRCh38hg38GRCh38
GRCh371668,679,213 - 68,734,195 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,236,277 - 67,290,443 (+)NCBINCBI36Build 36hg18NCBI36
Build 341667,236,276 - 67,290,442NCBI
Celera1653,187,169 - 53,242,286 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1654,551,120 - 54,605,916 (+)NCBIHuRef
CHM1_11670,086,362 - 70,141,056 (+)NCBICHM1_1
T2T-CHM13v2.01674,441,601 - 74,531,453 (+)NCBIT2T-CHM13v2.0
Cdh3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398107,237,484 - 107,283,543 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8107,237,523 - 107,283,929 (+)EnsemblGRCm39 Ensembl
GRCm388106,510,852 - 106,556,911 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,510,891 - 106,557,297 (+)EnsemblGRCm38mm10GRCm38
MGSCv378109,034,791 - 109,080,808 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368109,400,020 - 109,446,037 (+)NCBIMGSCv36mm8
Celera8110,734,945 - 110,781,298 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.16NCBI
Cdh3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81951,303,414 - 51,353,900 (+)NCBIGRCr8
mRatBN7.21934,393,596 - 34,444,084 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1934,393,727 - 34,444,084 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1941,209,266 - 41,259,606 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01941,862,587 - 41,912,930 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01944,161,722 - 44,212,069 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01938,668,957 - 38,719,801 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1938,669,230 - 38,719,677 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01949,536,859 - 49,587,578 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,343,823 - 36,393,819 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11936,395,654 - 36,397,989 (+)NCBI
Celera1933,820,490 - 33,870,862 (+)NCBICelera
Cytogenetic Map19q12NCBI
Cdh3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554847,938,495 - 7,986,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554847,937,847 - 7,985,418 (-)NCBIChiLan1.0ChiLan1.0
CDH3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21878,185,107 - 78,242,221 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11684,096,426 - 84,153,602 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01649,015,115 - 49,071,903 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11668,408,078 - 68,465,287 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,407,625 - 68,465,287 (+)Ensemblpanpan1.1panPan2
CDH3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1580,864,859 - 80,912,136 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl580,863,661 - 80,913,019 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha580,855,712 - 80,903,039 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0581,300,176 - 81,347,383 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl581,300,808 - 81,348,235 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1581,126,956 - 81,174,134 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0580,810,235 - 80,857,421 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0581,450,703 - 81,498,265 (-)NCBIUU_Cfam_GSD_1.0
Cdh3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,634,712 - 40,682,648 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647518,906,493 - 18,955,072 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647518,908,031 - 18,954,402 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDH3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl618,191,664 - 18,235,862 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1618,190,971 - 18,236,184 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2616,844,456 - 16,853,923 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDH3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1558,717,600 - 58,775,033 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl558,717,597 - 58,775,339 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604721,455,596 - 21,513,438 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdh3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474617,616,940 - 17,658,548 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474617,616,296 - 17,659,021 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDH3
653 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001793.6(CDH3):c.981del (p.Met327fs) deletion Congenital hypotrichosis with juvenile macular dystrophy [RCV000019205]|Hypotrichosis with juvenile macular dystrophy [RCV001002926] Chr16:68681081 [GRCh38]
Chr16:68714984 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.830del (p.Gly277fs) deletion Congenital hypotrichosis with juvenile macular dystrophy [RCV002243655]|EEM syndrome [RCV000019208]|Macular dystrophy [RCV000505148]|not provided [RCV001851938] Chr16:68679936 [GRCh38]
Chr16:68713839 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1000G>A (p.Glu334Lys) single nucleotide variant not provided [RCV000729242] Chr16:68682305 [GRCh38]
Chr16:68716208 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1508G>A (p.Arg503His) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV000019206]|not provided [RCV001386870] Chr16:68685288 [GRCh38]
Chr16:68719191 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) single nucleotide variant EEM syndrome [RCV000019207] Chr16:68681065 [GRCh38]
Chr16:68714968 [GRCh37]
Chr16:16q22.1
pathogenic
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 copy number loss See cases [RCV000053337] Chr16:68698941..74353205 [GRCh38]
Chr16:68732844..74387103 [GRCh37]
Chr16:67290345..72944604 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
GRCh38/hg38 16q22.1(chr16:68611956-68888428)x3 copy number gain See cases [RCV000053866] Chr16:68611956..68888428 [GRCh38]
Chr16:68645859..68922331 [GRCh37]
Chr16:67203360..67479832 [NCBI36]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.1196A>G (p.Glu399Gly) single nucleotide variant Malignant melanoma [RCV000063082] Chr16:68684596 [GRCh38]
Chr16:68718499 [GRCh37]
Chr16:67276000 [NCBI36]
Chr16:16q22.1
not provided
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) single nucleotide variant EEM syndrome [RCV001119081]|not provided [RCV000086951] Chr16:68684685 [GRCh38]
Chr16:68718588 [GRCh37]
Chr16:16q22.1
benign|likely benign|not provided
NM_001793.6(CDH3):c.2178G>A (p.Pro726=) single nucleotide variant not provided [RCV000079720] Chr16:68695821 [GRCh38]
Chr16:68729724 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554866]|EEM syndrome [RCV000277967]|not provided [RCV000841447]|not specified [RCV000079721] Chr16:68695882 [GRCh38]
Chr16:68729785 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) single nucleotide variant EEM syndrome [RCV000385875]|not provided [RCV000894059]|not specified [RCV000174054] Chr16:68685216 [GRCh38]
Chr16:68719119 [GRCh37]
Chr16:16q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.235G>A (p.Glu79Lys) single nucleotide variant Malignant tumor of prostate [RCV000149118]|not provided [RCV001036583] Chr16:68676459 [GRCh38]
Chr16:68710362 [GRCh37]
Chr16:16q22.1
pathogenic|uncertain significance
NM_001793.6(CDH3):c.77C>T (p.Pro26Leu) single nucleotide variant not provided [RCV001312561] Chr16:68645667 [GRCh38]
Chr16:68679570 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.65C>A (p.Ala22Glu) single nucleotide variant Inborn genetic diseases [RCV002543596]|not provided [RCV001312416] Chr16:68645655 [GRCh38]
Chr16:68679558 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) single nucleotide variant EEM syndrome [RCV000293983]|not provided [RCV000174055] Chr16:68685223 [GRCh38]
Chr16:68719126 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.2003-10A>G single nucleotide variant not provided [RCV000174719] Chr16:68695245 [GRCh38]
Chr16:68729148 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) single nucleotide variant not provided [RCV000175030] Chr16:68698385 [GRCh38]
Chr16:68732288 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) single nucleotide variant EEM syndrome [RCV000326141]|not provided [RCV000388300] Chr16:68695294 [GRCh38]
Chr16:68729197 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.1500C>T (p.Thr500=) single nucleotide variant EEM syndrome [RCV000337378]|not provided [RCV000966450]|not specified [RCV000336413] Chr16:68685280 [GRCh38]
Chr16:68719183 [GRCh37]
Chr16:16q22.1
benign|likely benign|uncertain significance
NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter) single nucleotide variant not provided [RCV000353473] Chr16:68682390 [GRCh38]
Chr16:68716293 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) single nucleotide variant EEM syndrome [RCV000356369]|not provided [RCV000658749]|not specified [RCV000326394] Chr16:68679912 [GRCh38]
Chr16:68713815 [GRCh37]
Chr16:16q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.111C>T (p.Thr37=) single nucleotide variant not provided [RCV001494129] Chr16:68645701 [GRCh38]
Chr16:68679604 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1796-11G>T single nucleotide variant EEM syndrome [RCV000265334]|not provided [RCV002521063] Chr16:68691709 [GRCh38]
Chr16:68725612 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.5(CDH3):c.-72T>C single nucleotide variant EEM syndrome [RCV000284698] Chr16:68645308 [GRCh38]
Chr16:68679211 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*485A>G single nucleotide variant EEM syndrome [RCV000302243] Chr16:68698885 [GRCh38]
Chr16:68732788 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.5(CDH3):c.-193G>T single nucleotide variant EEM syndrome [RCV000285842] Chr16:68645187 [GRCh38]
Chr16:68679090 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1011G>C (p.Val337=) single nucleotide variant EEM syndrome [RCV000268017]|not provided [RCV000592013] Chr16:68682316 [GRCh38]
Chr16:68716219 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554865]|EEM syndrome [RCV000268784]|not provided [RCV000836655] Chr16:68691880 [GRCh38]
Chr16:68725783 [GRCh37]
Chr16:16q22.1
benign
NM_001793.4(CDH3):c.-983A>G single nucleotide variant EEM syndrome [RCV000286393] Chr16:68644397 [GRCh38]
Chr16:68678300 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) single nucleotide variant EEM syndrome [RCV000305316]|not provided [RCV000836749] Chr16:68687630 [GRCh38]
Chr16:68721533 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) single nucleotide variant EEM syndrome [RCV000288285]|not provided [RCV001850702] Chr16:68645690 [GRCh38]
Chr16:68679593 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.813C>A (p.Thr271=) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554863]|EEM syndrome [RCV000259290]|not provided [RCV000836653] Chr16:68679920 [GRCh38]
Chr16:68713823 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) single nucleotide variant EEM syndrome [RCV000295157]|not provided [RCV001054282] Chr16:68684739 [GRCh38]
Chr16:68718642 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1593G>A (p.Thr531=) single nucleotide variant EEM syndrome [RCV000297660]|not provided [RCV001499034] Chr16:68687534 [GRCh38]
Chr16:68721437 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.*87G>C single nucleotide variant EEM syndrome [RCV000280279] Chr16:68698487 [GRCh38]
Chr16:68732390 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.720G>A (p.Thr240=) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554738]|EEM syndrome [RCV000299306]|not provided [RCV000836363] Chr16:68679827 [GRCh38]
Chr16:68713730 [GRCh37]
Chr16:16q22.1
benign
NM_001793.5(CDH3):c.-302C>T single nucleotide variant EEM syndrome [RCV000263804] Chr16:68645078 [GRCh38]
Chr16:68678981 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) single nucleotide variant EEM syndrome [RCV000281554]|not provided [RCV001850704] Chr16:68698329 [GRCh38]
Chr16:68732232 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1932C>T (p.Val644=) single nucleotide variant EEM syndrome [RCV000365694]|not provided [RCV000729044] Chr16:68691856 [GRCh38]
Chr16:68725759 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.612C>A (p.Ile204=) single nucleotide variant EEM syndrome [RCV000366913]|not provided [RCV001516431] Chr16:68678827 [GRCh38]
Chr16:68712730 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2421T>G (p.Asp807Glu) single nucleotide variant not provided [RCV000339901] Chr16:68698331 [GRCh38]
Chr16:68732234 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.5(CDH3):c.-141C>G single nucleotide variant EEM syndrome [RCV000324359] Chr16:68645239 [GRCh38]
Chr16:68679142 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.-36C>T single nucleotide variant EEM syndrome [RCV000346627] Chr16:68645344 [GRCh38]
Chr16:68679247 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.-628G>A single nucleotide variant EEM syndrome [RCV000371366] Chr16:68644752 [GRCh38]
Chr16:68678655 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2484C>T (p.Asp828=) single nucleotide variant EEM syndrome [RCV000372482]|not provided [RCV001474844] Chr16:68698394 [GRCh38]
Chr16:68732297 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.5(CDH3):c.-267C>T single nucleotide variant EEM syndrome [RCV000373279] Chr16:68645113 [GRCh38]
Chr16:68679016 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.5(CDH3):c.-282G>T single nucleotide variant EEM syndrome [RCV000316650] Chr16:68645098 [GRCh38]
Chr16:68679001 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.345T>C (p.Ser115=) single nucleotide variant not provided [RCV000901196]|not specified [RCV000384605] Chr16:68678232 [GRCh38]
Chr16:68712135 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.1240G>A (p.Ala414Thr) single nucleotide variant EEM syndrome [RCV000328884]|Inborn genetic diseases [RCV002521062]|not provided [RCV001850703] Chr16:68684640 [GRCh38]
Chr16:68718543 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.-11T>C single nucleotide variant EEM syndrome [RCV000401003] Chr16:68645369 [GRCh38]
Chr16:68679272 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.-621G>A single nucleotide variant EEM syndrome [RCV000274484] Chr16:68644759 [GRCh38]
Chr16:68678662 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1848C>T (p.Asp616=) single nucleotide variant EEM syndrome [RCV000308643]|not provided [RCV000910243] Chr16:68691772 [GRCh38]
Chr16:68725675 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.4(CDH3):c.-629dup duplication EEM syndrome [RCV000308578] Chr16:68644735..68644736 [GRCh38]
Chr16:68678638..68678639 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) single nucleotide variant EEM syndrome [RCV000352422]|not provided [RCV001517328] Chr16:68685210 [GRCh38]
Chr16:68719113 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.4(CDH3):c.-1085A>G single nucleotide variant EEM syndrome [RCV000402081] Chr16:68644295 [GRCh38]
Chr16:68678198 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.166A>G (p.Met56Val) single nucleotide variant EEM syndrome [RCV000345052]|not provided [RCV001229759] Chr16:68676390 [GRCh38]
Chr16:68710293 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2280+7C>T single nucleotide variant EEM syndrome [RCV000330709]|not provided [RCV000949813] Chr16:68695930 [GRCh38]
Chr16:68729833 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.5(CDH3):c.-537A>G single nucleotide variant EEM syndrome [RCV000331655] Chr16:68644843 [GRCh38]
Chr16:68678746 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys) single nucleotide variant EEM syndrome [RCV000377521]|not provided [RCV000733024] Chr16:68682483 [GRCh38]
Chr16:68716386 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.119C>A (p.Ala40Glu) single nucleotide variant not provided [RCV000391563] Chr16:68645709 [GRCh38]
Chr16:68679612 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*595G>A single nucleotide variant EEM syndrome [RCV000310512] Chr16:68698995 [GRCh38]
Chr16:68732898 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.5(CDH3):c.-140G>T single nucleotide variant EEM syndrome [RCV000376671] Chr16:68645240 [GRCh38]
Chr16:68679143 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) single nucleotide variant not provided [RCV000392878] Chr16:68698274 [GRCh38]
Chr16:68732177 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.5(CDH3):c.-399G>C single nucleotide variant EEM syndrome [RCV000356119] Chr16:68644981 [GRCh38]
Chr16:68678884 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) single nucleotide variant EEM syndrome [RCV000381149]|not provided [RCV000947710] Chr16:68684657 [GRCh38]
Chr16:68718560 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.4(CDH3):c.-633_-627AAAAAGA[1] microsatellite EEM syndrome [RCV000403396] Chr16:68644746..68644752 [GRCh38]
Chr16:68678649..68678655 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) single nucleotide variant EEM syndrome [RCV000407632]|not provided [RCV000595748] Chr16:68687622 [GRCh38]
Chr16:68721525 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.1571-7C>G single nucleotide variant EEM syndrome [RCV000407662]|not provided [RCV001764289] Chr16:68687505 [GRCh38]
Chr16:68721408 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2430C>T (p.Asn810=) single nucleotide variant not provided [RCV000361911] Chr16:68698340 [GRCh38]
Chr16:68732243 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.390+5G>A single nucleotide variant EEM syndrome [RCV000314614]|not provided [RCV000914847] Chr16:68678282 [GRCh38]
Chr16:68712185 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554864]|EEM syndrome [RCV000336277]|not provided [RCV000836654] Chr16:68687567 [GRCh38]
Chr16:68721470 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.886C>G (p.Leu296Val) single nucleotide variant EEM syndrome [RCV000360247] Chr16:68680986 [GRCh38]
Chr16:68714889 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1081G>T (p.Ala361Ser) single nucleotide variant Inborn genetic diseases [RCV002522013]|not provided [RCV000327556] Chr16:68682386 [GRCh38]
Chr16:68716289 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2444G>A (p.Arg815His) single nucleotide variant EEM syndrome [RCV000338880] Chr16:68698354 [GRCh38]
Chr16:68732257 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.-679T>C single nucleotide variant EEM syndrome [RCV000339062] Chr16:68644701 [GRCh38]
Chr16:68678604 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.867+6T>C single nucleotide variant EEM syndrome [RCV000317257]|not provided [RCV001302479] Chr16:68679980 [GRCh38]
Chr16:68713883 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*498G>A single nucleotide variant EEM syndrome [RCV000340745] Chr16:68698898 [GRCh38]
Chr16:68732801 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2361C>T (p.Ser787=) single nucleotide variant EEM syndrome [RCV000387607]|not provided [RCV001416002] Chr16:68698271 [GRCh38]
Chr16:68732174 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.*154G>T single nucleotide variant EEM syndrome [RCV000341921]|not provided [RCV001683287] Chr16:68698554 [GRCh38]
Chr16:68732457 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.*405G>A single nucleotide variant EEM syndrome [RCV000390035] Chr16:68698805 [GRCh38]
Chr16:68732708 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1785C>T (p.Val595=) single nucleotide variant EEM syndrome [RCV001116137]|not provided [RCV000334252] Chr16:68687726 [GRCh38]
Chr16:68721629 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.4(CDH3):c.-634_-633insG insertion EEM syndrome [RCV000314275] Chr16:68644746..68644747 [GRCh38]
Chr16:68678649..68678650 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.-635_-634insG insertion EEM syndrome [RCV000365625] Chr16:68644745..68644746 [GRCh38]
Chr16:68678648..68678649 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) single nucleotide variant EEM syndrome [RCV000320834] Chr16:68682348 [GRCh38]
Chr16:68716251 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2070A>G (p.Pro690=) single nucleotide variant EEM syndrome [RCV000388706] Chr16:68695322 [GRCh38]
Chr16:68729225 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.318G>A (p.Lys106=) single nucleotide variant EEM syndrome [RCV000407393]|not provided [RCV002521061] Chr16:68678205 [GRCh38]
Chr16:68712108 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.691G>C (p.Gly231Arg) single nucleotide variant EEM syndrome [RCV000407443] Chr16:68678906 [GRCh38]
Chr16:68712809 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.4(CDH3):c.-646_-645insA insertion EEM syndrome [RCV000390892] Chr16:68644734..68644735 [GRCh38]
Chr16:68678637..68678638 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*529G>A single nucleotide variant EEM syndrome [RCV000390962] Chr16:68698929 [GRCh38]
Chr16:68732832 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1740G>C (p.Gln580His) single nucleotide variant EEM syndrome [RCV000357708] Chr16:68687681 [GRCh38]
Chr16:68721584 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1183-12C>T single nucleotide variant EEM syndrome [RCV000290318] Chr16:68684571 [GRCh38]
Chr16:68718474 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.821G>A (p.Arg274Gln) single nucleotide variant not provided [RCV000591960] Chr16:68679928 [GRCh38]
Chr16:68713831 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) single nucleotide variant not provided [RCV000597821] Chr16:68687645 [GRCh38]
Chr16:68721548 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.1652G>A (p.Arg551His) single nucleotide variant EEM syndrome [RCV001121045]|not provided [RCV000591331] Chr16:68687593 [GRCh38]
Chr16:68721496 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.918C>T (p.Asp306=) single nucleotide variant EEM syndrome [RCV001116026]|not provided [RCV000733939] Chr16:68681018 [GRCh38]
Chr16:68714921 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001793.6(CDH3):c.895C>T (p.Gln299Ter) single nucleotide variant not provided [RCV000729245] Chr16:68680995 [GRCh38]
Chr16:68714898 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.410G>A (p.Arg137Lys) single nucleotide variant not provided [RCV001307623]|not specified [RCV000413821] Chr16:68678520 [GRCh38]
Chr16:68712423 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001793.6(CDH3):c.2233C>T (p.Arg745Cys) single nucleotide variant not provided [RCV000479232] Chr16:68695876 [GRCh38]
Chr16:68729779 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) single nucleotide variant EEM syndrome [RCV000625862] Chr16:68698215 [GRCh38]
Chr16:68732118 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001793.6(CDH3):c.1222G>A (p.Val408Ile) single nucleotide variant Inborn genetic diseases [RCV002532523]|not provided [RCV000596619] Chr16:68684622 [GRCh38]
Chr16:68718525 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001793.6(CDH3):c.101C>T (p.Ala34Val) single nucleotide variant not provided [RCV000597193] Chr16:68645691 [GRCh38]
Chr16:68679594 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys) single nucleotide variant EEM syndrome [RCV001117477]|not provided [RCV000922226]|not specified [RCV000596107] Chr16:68682392 [GRCh38]
Chr16:68716295 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) single nucleotide variant EEM syndrome [RCV001119176]|not provided [RCV000512996] Chr16:68698266 [GRCh38]
Chr16:68732169 [GRCh37]
Chr16:16q22.1
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
NM_001793.6(CDH3):c.335C>T (p.Ala112Val) single nucleotide variant Retinal dystrophy [RCV000678534] Chr16:68678222 [GRCh38]
Chr16:68712125 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68417085-68914451)x3 copy number gain not provided [RCV000683826] Chr16:68417085..68914451 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2281-45A>C single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554868]|EEM syndrome [RCV001554867]|not provided [RCV001685530] Chr16:68698146 [GRCh38]
Chr16:68732049 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001793.6(CDH3):c.2281-44G>T single nucleotide variant not provided [RCV001659039]|not specified [RCV001726608] Chr16:68698147 [GRCh38]
Chr16:68732050 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.52T>C (p.Trp18Arg) single nucleotide variant not provided [RCV003312348] Chr16:68645642 [GRCh38]
Chr16:68679545 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2059dup (p.Leu687fs) duplication not provided [RCV001054787] Chr16:68695307..68695308 [GRCh38]
Chr16:68729210..68729211 [GRCh37]
Chr16:16q22.1
pathogenic
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1
pathogenic
NM_001793.6(CDH3):c.109A>T (p.Thr37Ser) single nucleotide variant EEM syndrome [RCV001117370]|Inborn genetic diseases [RCV002556498]|not provided [RCV001521567] Chr16:68645699 [GRCh38]
Chr16:68679602 [GRCh37]
Chr16:16q22.1
benign|likely benign|uncertain significance
NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) single nucleotide variant EEM syndrome [RCV001117479]|not provided [RCV001448118] Chr16:68684621 [GRCh38]
Chr16:68718524 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.1776G>A (p.Thr592=) single nucleotide variant not provided [RCV000904319] Chr16:68687717 [GRCh38]
Chr16:68721620 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) single nucleotide variant EEM syndrome [RCV001117571]|not provided [RCV000879141]|not specified [RCV001700326] Chr16:68695310 [GRCh38]
Chr16:68729213 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.2211C>T (p.Thr737=) single nucleotide variant not provided [RCV000904554] Chr16:68695854 [GRCh38]
Chr16:68729757 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.141C>G (p.Pro47=) single nucleotide variant EEM syndrome [RCV001117371]|not provided [RCV000906319] Chr16:68645731 [GRCh38]
Chr16:68679634 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1775C>T (p.Thr592Met) single nucleotide variant Inborn genetic diseases [RCV002551380]|not provided [RCV001037399] Chr16:68687716 [GRCh38]
Chr16:68721619 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.937G>A (p.Val313Met) single nucleotide variant not provided [RCV001870704] Chr16:68681037 [GRCh38]
Chr16:68714940 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2076T>G (p.Asp692Glu) single nucleotide variant not provided [RCV001046590] Chr16:68695328 [GRCh38]
Chr16:68729231 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.10:g.(?_68645380)_(68698400_?)dup duplication not provided [RCV001033545] Chr16:68679283..68732303 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.307C>T (p.Arg103Ter) single nucleotide variant Retinal dystrophy [RCV001073805]|not provided [RCV001784631] Chr16:68678194 [GRCh38]
Chr16:68712097 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1716G>A (p.Leu572=) single nucleotide variant not provided [RCV000910242] Chr16:68687657 [GRCh38]
Chr16:68721560 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.474C>T (p.Phe158=) single nucleotide variant not provided [RCV000919338] Chr16:68678584 [GRCh38]
Chr16:68712487 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2418C>T (p.Tyr806=) single nucleotide variant not provided [RCV000976739] Chr16:68698328 [GRCh38]
Chr16:68732231 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1014T>G (p.Pro338=) single nucleotide variant not provided [RCV000924282] Chr16:68682319 [GRCh38]
Chr16:68716222 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.55C>T (p.Leu19=) single nucleotide variant not provided [RCV000963686] Chr16:68645645 [GRCh38]
Chr16:68679548 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.369C>A (p.Pro123=) single nucleotide variant not provided [RCV000900978] Chr16:68678256 [GRCh38]
Chr16:68712159 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1083G>A (p.Ala361=) single nucleotide variant not provided [RCV000940005] Chr16:68682388 [GRCh38]
Chr16:68716291 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1063G>T (p.Asp355Tyr) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV000824812]|not provided [RCV002536035] Chr16:68682368 [GRCh38]
Chr16:68716271 [GRCh37]
Chr16:16q22.1
pathogenic|likely pathogenic
NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) single nucleotide variant EEM syndrome [RCV001121167]|not provided [RCV000915385] Chr16:68698379 [GRCh38]
Chr16:68732282 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.1918T>G (p.Cys640Gly) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV000985062] Chr16:68691842 [GRCh38]
Chr16:68725745 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.247-38A>G single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554735]|EEM syndrome [RCV001554734]|not provided [RCV000836748] Chr16:68678096 [GRCh38]
Chr16:68711999 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.3G>A (p.Met1Ile) single nucleotide variant Retinitis pigmentosa [RCV000787809] Chr16:68645382 [GRCh38]
Chr16:68679285 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.390+37T>C single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554737]|EEM syndrome [RCV001554736]|not provided [RCV000836652] Chr16:68678314 [GRCh38]
Chr16:68712217 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:68655923-68905837)x3 copy number gain not provided [RCV000848611] Chr16:68655923..68905837 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.854G>T (p.Gly285Val) single nucleotide variant EEM syndrome [RCV001116024]|not provided [RCV001862893] Chr16:68679961 [GRCh38]
Chr16:68713864 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1808T>C (p.Val603Ala) single nucleotide variant EEM syndrome [RCV001116138]|EEM syndrome [RCV002482215]|not provided [RCV001213708] Chr16:68691732 [GRCh38]
Chr16:68725635 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*195G>T single nucleotide variant EEM syndrome [RCV001116250]|not provided [RCV001664693] Chr16:68698595 [GRCh38]
Chr16:68732498 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.324T>C (p.Asp108=) single nucleotide variant EEM syndrome [RCV001118980] Chr16:68678211 [GRCh38]
Chr16:68712114 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.651G>C (p.Gln217His) single nucleotide variant EEM syndrome [RCV001118982] Chr16:68678866 [GRCh38]
Chr16:68712769 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.654C>T (p.Asp218=) single nucleotide variant EEM syndrome [RCV001118983]|not provided [RCV001423142] Chr16:68678869 [GRCh38]
Chr16:68712772 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.1119C>T (p.Asp373=) single nucleotide variant EEM syndrome [RCV001117478] Chr16:68682424 [GRCh38]
Chr16:68716327 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1722C>T (p.Pro574=) single nucleotide variant not provided [RCV000919685] Chr16:68687663 [GRCh38]
Chr16:68721566 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1795+1G>C single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV000824709] Chr16:68687737 [GRCh38]
Chr16:68721640 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.46-11C>T single nucleotide variant EEM syndrome [RCV001117369] Chr16:68645625 [GRCh38]
Chr16:68679528 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.798C>T (p.His266=) single nucleotide variant EEM syndrome [RCV001120951]|not provided [RCV002069966] Chr16:68679905 [GRCh38]
Chr16:68713808 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.1284G>A (p.Val428=) single nucleotide variant EEM syndrome [RCV001119080] Chr16:68684684 [GRCh38]
Chr16:68718587 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2340C>T (p.Phe780=) single nucleotide variant EEM syndrome [RCV001119175] Chr16:68698250 [GRCh38]
Chr16:68732153 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1291G>C (p.Val431Leu) single nucleotide variant not provided [RCV001240209] Chr16:68684691 [GRCh38]
Chr16:68718594 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1270A>G (p.Thr424Ala) single nucleotide variant not provided [RCV001201989] Chr16:68684670 [GRCh38]
Chr16:68718573 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.656C>G (p.Thr219Ser) single nucleotide variant not provided [RCV000996289] Chr16:68678871 [GRCh38]
Chr16:68712774 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68679283-69221649)x3 copy number gain not provided [RCV000996431] Chr16:68679283..69221649 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1050G>A (p.Thr350=) single nucleotide variant EEM syndrome [RCV001117476]|not provided [RCV001487376] Chr16:68682355 [GRCh38]
Chr16:68716258 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.2061C>T (p.Leu687=) single nucleotide variant EEM syndrome [RCV001117572]|not provided [RCV002556503] Chr16:68695313 [GRCh38]
Chr16:68729216 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.*535G>A single nucleotide variant EEM syndrome [RCV001117695] Chr16:68698935 [GRCh38]
Chr16:68732838 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*180G>C single nucleotide variant EEM syndrome [RCV001116249] Chr16:68698580 [GRCh38]
Chr16:68732483 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1685G>A (p.Arg562His) single nucleotide variant not provided [RCV001246694] Chr16:68687626 [GRCh38]
Chr16:68721529 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2389T>A (p.Ser797Thr) single nucleotide variant not provided [RCV001202045] Chr16:68698299 [GRCh38]
Chr16:68732202 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2281-274G>A single nucleotide variant not provided [RCV001665286] Chr16:68697917 [GRCh38]
Chr16:68731820 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.160+117G>A single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV001554733]|EEM syndrome [RCV001554732]|not provided [RCV001709742] Chr16:68645867 [GRCh38]
Chr16:68679770 [GRCh37]
Chr16:16q22.1
benign
NC_000016.9:g.(?_68349883)_(68732303_?)del deletion not provided [RCV003107474] Chr16:68349883..68732303 [GRCh37]
Chr16:16q22.1
pathogenic
NC_000016.9:g.(?_68721395)_(68721659_?)del deletion not provided [RCV003107475] Chr16:68721395..68721659 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68718466)_(68721659_?)del deletion not provided [RCV003107476] Chr16:68718466..68721659 [GRCh37]
Chr16:16q22.1
pathogenic
NC_000016.9:g.(?_68721395)_(68725849_?)del deletion not provided [RCV003107477] Chr16:68721395..68725849 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68721395)_(68732303_?)del deletion not provided [RCV003107478] Chr16:68721395..68732303 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68710268)_(68867402_?)del deletion not provided [RCV003107479] Chr16:68710268..68867402 [GRCh37]
Chr16:16q22.1
pathogenic
NC_000016.9:g.(?_68710268)_(68716410_?)del deletion not provided [RCV003107480] Chr16:68710268..68716410 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1571-75G>A single nucleotide variant not provided [RCV001662901] Chr16:68687437 [GRCh38]
Chr16:68721340 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1796-187C>T single nucleotide variant not provided [RCV001567431] Chr16:68691533 [GRCh38]
Chr16:68725436 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2134-154G>A single nucleotide variant not provided [RCV001595278] Chr16:68695623 [GRCh38]
Chr16:68729526 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.546+35C>G single nucleotide variant not provided [RCV001561217] Chr16:68678691 [GRCh38]
Chr16:68712594 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.692-248C>T single nucleotide variant not provided [RCV001598033] Chr16:68679551 [GRCh38]
Chr16:68713454 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2003-220C>T single nucleotide variant not provided [RCV001639215] Chr16:68695035 [GRCh38]
Chr16:68728938 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1183-158A>G single nucleotide variant not provided [RCV001592090] Chr16:68684425 [GRCh38]
Chr16:68718328 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2003-182C>A single nucleotide variant not provided [RCV001639506] Chr16:68695073 [GRCh38]
Chr16:68728976 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.161-123T>C single nucleotide variant not provided [RCV001672243] Chr16:68676262 [GRCh38]
Chr16:68710165 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1570+79C>T single nucleotide variant not provided [RCV001559736] Chr16:68685429 [GRCh38]
Chr16:68719332 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1942C>T (p.Pro648Ser) single nucleotide variant not provided [RCV000887061] Chr16:68691866 [GRCh38]
Chr16:68725769 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.285C>A (p.Ile95=) single nucleotide variant not provided [RCV000921312] Chr16:68678172 [GRCh38]
Chr16:68712075 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.558C>T (p.His186=) single nucleotide variant not provided [RCV000939024] Chr16:68678773 [GRCh38]
Chr16:68712676 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1730C>T (p.Ser577Phe) single nucleotide variant not provided [RCV001241926] Chr16:68687671 [GRCh38]
Chr16:68721574 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1703C>T (p.Thr568Met) single nucleotide variant not provided [RCV001235682] Chr16:68687644 [GRCh38]
Chr16:68721547 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1381G>T (p.Val461Phe) single nucleotide variant not provided [RCV001242156] Chr16:68684781 [GRCh38]
Chr16:68718684 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2431G>A (p.Glu811Lys) single nucleotide variant not provided [RCV001242157] Chr16:68698341 [GRCh38]
Chr16:68732244 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.989C>A (p.Pro330His) single nucleotide variant not provided [RCV001207779] Chr16:68681089 [GRCh38]
Chr16:68714992 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.547-3C>T single nucleotide variant not provided [RCV001242783] Chr16:68678759 [GRCh38]
Chr16:68712662 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1419G>T (p.Lys473Asn) single nucleotide variant not provided [RCV001236192] Chr16:68684819 [GRCh38]
Chr16:68718722 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1504G>A (p.Asp502Asn) single nucleotide variant not provided [RCV001227466] Chr16:68685284 [GRCh38]
Chr16:68719187 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*523G>A single nucleotide variant EEM syndrome [RCV001116251] Chr16:68698923 [GRCh38]
Chr16:68732826 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.10:g.(?_68676385)_(68679974_?)dup duplication not provided [RCV001031144] Chr16:68710288..68713877 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2368G>C (p.Ala790Pro) single nucleotide variant not provided [RCV001057620] Chr16:68698278 [GRCh38]
Chr16:68732181 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2260A>G (p.Ile754Val) single nucleotide variant not provided [RCV001206313] Chr16:68695903 [GRCh38]
Chr16:68729806 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.34C>T (p.Leu12Phe) single nucleotide variant EEM syndrome [RCV001117367]|Inborn genetic diseases [RCV002558161]|not provided [RCV001247426] Chr16:68645413 [GRCh38]
Chr16:68679316 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.45+6C>T single nucleotide variant EEM syndrome [RCV001117368]|not provided [RCV001862898] Chr16:68645430 [GRCh38]
Chr16:68679333 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.146A>G (p.Gln49Arg) single nucleotide variant not provided [RCV001064971] Chr16:68645736 [GRCh38]
Chr16:68679639 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2159G>A (p.Arg720Gln) single nucleotide variant not provided [RCV001225434] Chr16:68695802 [GRCh38]
Chr16:68729705 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.920G>C (p.Gly307Ala) single nucleotide variant not provided [RCV001225435] Chr16:68681020 [GRCh38]
Chr16:68714923 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1632T>G (p.His544Gln) single nucleotide variant EEM syndrome [RCV001121044] Chr16:68687573 [GRCh38]
Chr16:68721476 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*2C>T single nucleotide variant EEM syndrome [RCV001121168] Chr16:68698402 [GRCh38]
Chr16:68732305 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*87G>T single nucleotide variant EEM syndrome [RCV001121170] Chr16:68698487 [GRCh38]
Chr16:68732390 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1117G>A (p.Asp373Asn) single nucleotide variant not provided [RCV000957446] Chr16:68682422 [GRCh38]
Chr16:68716325 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1984G>A (p.Ala662Thr) single nucleotide variant EEM syndrome [RCV001116139]|not provided [RCV000935013] Chr16:68691908 [GRCh38]
Chr16:68725811 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.45+79C>A single nucleotide variant not provided [RCV001561777] Chr16:68645503 [GRCh38]
Chr16:68679406 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1570+177C>T single nucleotide variant not provided [RCV001659561] Chr16:68685527 [GRCh38]
Chr16:68719430 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.997-120G>A single nucleotide variant not provided [RCV001556919] Chr16:68682182 [GRCh38]
Chr16:68716085 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1796-44G>A single nucleotide variant not provided [RCV001556955] Chr16:68691676 [GRCh38]
Chr16:68725579 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2003-257G>C single nucleotide variant not provided [RCV001572287] Chr16:68694998 [GRCh38]
Chr16:68728901 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2002+180G>A single nucleotide variant not provided [RCV001551610] Chr16:68692106 [GRCh38]
Chr16:68726009 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.997-26T>C single nucleotide variant not provided [RCV001636464] Chr16:68682276 [GRCh38]
Chr16:68716179 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3 copy number gain not provided [RCV002472657] Chr16:68326200..68970975 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1183-119T>C single nucleotide variant not provided [RCV001594633] Chr16:68684464 [GRCh38]
Chr16:68718367 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2134-155C>T single nucleotide variant not provided [RCV001596231] Chr16:68695622 [GRCh38]
Chr16:68729525 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2281-288T>C single nucleotide variant not provided [RCV001598784] Chr16:68697903 [GRCh38]
Chr16:68731806 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.246+50A>G single nucleotide variant not provided [RCV001658949] Chr16:68676520 [GRCh38]
Chr16:68710423 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.547-12T>C single nucleotide variant EEM syndrome [RCV001118981]|not provided [RCV002069931] Chr16:68678750 [GRCh38]
Chr16:68712653 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.*142C>T single nucleotide variant EEM syndrome [RCV001121171] Chr16:68698542 [GRCh38]
Chr16:68732445 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.*3G>T single nucleotide variant EEM syndrome [RCV001121169] Chr16:68698403 [GRCh38]
Chr16:68732306 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.*149G>T single nucleotide variant EEM syndrome [RCV001121172] Chr16:68698549 [GRCh38]
Chr16:68732452 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1373C>G (p.Pro458Arg) single nucleotide variant not provided [RCV001064498] Chr16:68684773 [GRCh38]
Chr16:68718676 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1796-137A>G single nucleotide variant not provided [RCV001695286] Chr16:68691583 [GRCh38]
Chr16:68725486 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) single nucleotide variant EEM syndrome [RCV001120952]|Inborn genetic diseases [RCV002556601]|not provided [RCV001856586] Chr16:68679927 [GRCh38]
Chr16:68713830 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1424+23A>G single nucleotide variant not provided [RCV001609753] Chr16:68684847 [GRCh38]
Chr16:68718750 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.997-139G>A single nucleotide variant not provided [RCV001710886] Chr16:68682163 [GRCh38]
Chr16:68716066 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:68671740-68906494)x3 copy number gain not provided [RCV001006798] Chr16:68671740..68906494 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.298C>T (p.Arg100Cys) single nucleotide variant not provided [RCV001068842] Chr16:68678185 [GRCh38]
Chr16:68712088 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1570+297T>G single nucleotide variant not provided [RCV001666249] Chr16:68685647 [GRCh38]
Chr16:68719550 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2003-46A>G single nucleotide variant not provided [RCV001666376] Chr16:68695209 [GRCh38]
Chr16:68729112 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2443C>T (p.Arg815Cys) single nucleotide variant not provided [RCV001057794] Chr16:68698353 [GRCh38]
Chr16:68732256 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.247-194dup duplication not provided [RCV001547424] Chr16:68677926..68677927 [GRCh38]
Chr16:68711829..68711830 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2395G>A (p.Ala799Thr) single nucleotide variant not provided [RCV001212249] Chr16:68698305 [GRCh38]
Chr16:68732208 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2239_2240delinsAA (p.Arg747Lys) indel not provided [RCV001235626] Chr16:68695882..68695883 [GRCh38]
Chr16:68729785..68729786 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2401G>A (p.Asp801Asn) single nucleotide variant not provided [RCV001047462] Chr16:68698311 [GRCh38]
Chr16:68732214 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2138A>G (p.Tyr713Cys) single nucleotide variant not provided [RCV001237198] Chr16:68695781 [GRCh38]
Chr16:68729684 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1423A>C (p.Ser475Arg) single nucleotide variant not provided [RCV001237243] Chr16:68684823 [GRCh38]
Chr16:68718726 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.190G>T (p.Ala64Ser) single nucleotide variant Inborn genetic diseases [RCV002553198]|not provided [RCV001049329] Chr16:68676414 [GRCh38]
Chr16:68710317 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1649C>T (p.Pro550Leu) single nucleotide variant not provided [RCV001208553] Chr16:68687590 [GRCh38]
Chr16:68721493 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2155C>T (p.His719Tyr) single nucleotide variant not provided [RCV001208648] Chr16:68695798 [GRCh38]
Chr16:68729701 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.10:g.(?_68645380)_(68645750_?)dup duplication not provided [RCV001033854] Chr16:68679283..68679653 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.868-6C>G single nucleotide variant not provided [RCV001205359] Chr16:68680962 [GRCh38]
Chr16:68714865 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.830G>A (p.Gly277Asp) single nucleotide variant Hypotrichosis with juvenile macular dystrophy [RCV001002925] Chr16:68679937 [GRCh38]
Chr16:68713840 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) single nucleotide variant Retinitis pigmentosa [RCV001002927]|not provided [RCV002551699] Chr16:68695843 [GRCh38]
Chr16:68729746 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
NM_001793.6(CDH3):c.2263G>A (p.Gly755Ser) single nucleotide variant not provided [RCV001035029] Chr16:68695906 [GRCh38]
Chr16:68729809 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2002+5G>A single nucleotide variant not provided [RCV001043593] Chr16:68691931 [GRCh38]
Chr16:68725834 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
NM_001793.6(CDH3):c.956T>C (p.Leu319Pro) single nucleotide variant not provided [RCV001044699] Chr16:68681056 [GRCh38]
Chr16:68714959 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) single nucleotide variant EEM syndrome [RCV001119177]|not provided [RCV001045345] Chr16:68698272 [GRCh38]
Chr16:68732175 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1682T>C (p.Val561Ala) single nucleotide variant not provided [RCV001204106] Chr16:68687623 [GRCh38]
Chr16:68721526 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2342A>T (p.Asp781Val) single nucleotide variant not provided [RCV001232524] Chr16:68698252 [GRCh38]
Chr16:68732155 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.909G>T (p.Met303Ile) single nucleotide variant EEM syndrome [RCV001116025]|not provided [RCV001522875] Chr16:68681009 [GRCh38]
Chr16:68714912 [GRCh37]
Chr16:16q22.1
benign|uncertain significance
NM_001793.6(CDH3):c.996+13C>T single nucleotide variant EEM syndrome [RCV001116027]|not provided [RCV001509662] Chr16:68681109 [GRCh38]
Chr16:68715012 [GRCh37]
Chr16:16q22.1
benign|likely benign
NM_001793.6(CDH3):c.1049C>T (p.Thr350Met) single nucleotide variant not provided [RCV001204422] Chr16:68682354 [GRCh38]
Chr16:68716257 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1648C>T (p.Pro550Ser) single nucleotide variant Inborn genetic diseases [RCV003166458]|not provided [RCV001235681] Chr16:68687589 [GRCh38]
Chr16:68721492 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2024T>G (p.Leu675Trp) single nucleotide variant not provided [RCV001046607] Chr16:68695276 [GRCh38]
Chr16:68729179 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_001793.6(CDH3):c.2107G>A (p.Glu703Lys) single nucleotide variant not provided [RCV001212751] Chr16:68695359 [GRCh38]
Chr16:68729262 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.747C>A (p.Tyr249Ter) single nucleotide variant Hypotrichosis with juvenile macular dystrophy [RCV001002924]|not provided [RCV003321770] Chr16:68679854 [GRCh38]
Chr16:68713757 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) single nucleotide variant EEM syndrome [RCV001119174] Chr16:68695894 [GRCh38]
Chr16:68729797 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1372C>G (p.Pro458Ala) single nucleotide variant not provided [RCV001063680] Chr16:68684772 [GRCh38]
Chr16:68718675 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2115G>A (p.Gly705=) single nucleotide variant EEM syndrome [RCV001117573]|not provided [RCV001515115] Chr16:68695367 [GRCh38]
Chr16:68729270 [GRCh37]
Chr16:16q22.1
benign|uncertain significance
NM_001793.6(CDH3):c.2227A>G (p.Met743Val) single nucleotide variant EEM syndrome [RCV001117574]|not provided [RCV001313226] Chr16:68695870 [GRCh38]
Chr16:68729773 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.10:g.(?_68645380)_(68867220_?)dup duplication not provided [RCV001032650] Chr16:68679283..68901123 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2087del (p.Asp696fs) deletion EEM syndrome [RCV001196535] Chr16:68695339 [GRCh38]
Chr16:68729242 [GRCh37]
Chr16:16q22.1
likely pathogenic
GRCh37/hg19 16q22.1(chr16:68689253-69168290)x3 copy number gain not provided [RCV001259861] Chr16:68689253..69168290 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68658776-68937123)x3 copy number gain not provided [RCV001259863] Chr16:68658776..68937123 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2305C>T (p.Pro769Ser) single nucleotide variant Inborn genetic diseases [RCV002545051]|not provided [RCV001312862] Chr16:68698215 [GRCh38]
Chr16:68732118 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68584803-68737019)x3 copy number gain not provided [RCV001259858] Chr16:68584803..68737019 [GRCh37]
Chr16:16q22.1
likely benign
GRCh37/hg19 16q22.1(chr16:68572832-68817937)x1 copy number loss not provided [RCV001259859] Chr16:68572832..68817937 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.420G>C (p.Lys140Asn) single nucleotide variant not provided [RCV001301050] Chr16:68678530 [GRCh38]
Chr16:68712433 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.863G>A (p.Arg288Gln) single nucleotide variant not provided [RCV001320058] Chr16:68679970 [GRCh38]
Chr16:68713873 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2174G>A (p.Arg725Lys) single nucleotide variant not provided [RCV001342464] Chr16:68695817 [GRCh38]
Chr16:68729720 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1237G>A (p.Glu413Lys) single nucleotide variant not provided [RCV001301987] Chr16:68684637 [GRCh38]
Chr16:68718540 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2092G>A (p.Val698Ile) single nucleotide variant not provided [RCV001317831] Chr16:68695344 [GRCh38]
Chr16:68729247 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2218C>G (p.Pro740Ala) single nucleotide variant not provided [RCV001321406] Chr16:68695861 [GRCh38]
Chr16:68729764 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2191C>T (p.Arg731Cys) single nucleotide variant not provided [RCV001340923] Chr16:68695834 [GRCh38]
Chr16:68729737 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1795G>T (p.Gly599Cys) single nucleotide variant not provided [RCV001342815] Chr16:68687736 [GRCh38]
Chr16:68721639 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV001295547] Chr16:68678195 [GRCh38]
Chr16:68712098 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2323G>T (p.Asp775Tyr) single nucleotide variant not provided [RCV001341410] Chr16:68698233 [GRCh38]
Chr16:68732136 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2147C>T (p.Thr716Ile) single nucleotide variant not provided [RCV001298512] Chr16:68695790 [GRCh38]
Chr16:68729693 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.837C>T (p.Ile279=) single nucleotide variant not provided [RCV001392856] Chr16:68679944 [GRCh38]
Chr16:68713847 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1082C>T (p.Ala361Val) single nucleotide variant not provided [RCV001361798] Chr16:68682387 [GRCh38]
Chr16:68716290 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2192G>A (p.Arg731His) single nucleotide variant not provided [RCV001367779] Chr16:68695835 [GRCh38]
Chr16:68729738 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1634G>T (p.Gly545Val) single nucleotide variant not provided [RCV001359564] Chr16:68687575 [GRCh38]
Chr16:68721478 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.173G>A (p.Cys58Tyr) single nucleotide variant not provided [RCV001296441] Chr16:68676397 [GRCh38]
Chr16:68710300 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2280+6G>C single nucleotide variant not provided [RCV001348344] Chr16:68695929 [GRCh38]
Chr16:68729832 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68679283)_(68901123_?)dup duplication not provided [RCV001304389] Chr16:68679283..68901123 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1370A>G (p.Glu457Gly) single nucleotide variant not provided [RCV001362516] Chr16:68684770 [GRCh38]
Chr16:68718673 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1199C>G (p.Ala400Gly) single nucleotide variant EEM syndrome [RCV002476652]|not provided [RCV001362599] Chr16:68684599 [GRCh38]
Chr16:68718502 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.799G>A (p.Asp267Asn) single nucleotide variant Inborn genetic diseases [RCV002550011]|not provided [RCV001360684] Chr16:68679906 [GRCh38]
Chr16:68713809 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2323G>A (p.Asp775Asn) single nucleotide variant not provided [RCV001362097] Chr16:68698233 [GRCh38]
Chr16:68732136 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1182+62G>A single nucleotide variant not provided [RCV001581550] Chr16:68682549 [GRCh38]
Chr16:68716452 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1211A>G (p.His404Arg) single nucleotide variant not provided [RCV001362612] Chr16:68684611 [GRCh38]
Chr16:68718514 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.139C>A (p.Pro47Thr) single nucleotide variant not provided [RCV001371160] Chr16:68645729 [GRCh38]
Chr16:68679632 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1121G>A (p.Gly374Glu) single nucleotide variant not provided [RCV001339790] Chr16:68682426 [GRCh38]
Chr16:68716329 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1111G>A (p.Gly371Ser) single nucleotide variant Inborn genetic diseases [RCV002547018]|not provided [RCV001344771] Chr16:68682416 [GRCh38]
Chr16:68716319 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2386A>G (p.Thr796Ala) single nucleotide variant not provided [RCV001309690] Chr16:68698296 [GRCh38]
Chr16:68732199 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2059C>G (p.Leu687Val) single nucleotide variant not provided [RCV001370179] Chr16:68695311 [GRCh38]
Chr16:68729214 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.456C>G (p.Ser152Arg) single nucleotide variant not provided [RCV001297207] Chr16:68678566 [GRCh38]
Chr16:68712469 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1551G>A (p.Met517Ile) single nucleotide variant not provided [RCV001343995] Chr16:68685331 [GRCh38]
Chr16:68719234 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.841G>A (p.Val281Ile) single nucleotide variant not provided [RCV001323146] Chr16:68679948 [GRCh38]
Chr16:68713851 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.774_779del (p.His258_Ser259del) deletion not provided [RCV001347062] Chr16:68679878..68679883 [GRCh38]
Chr16:68713781..68713786 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.862C>T (p.Arg288Trp) single nucleotide variant not provided [RCV001374035] Chr16:68679969 [GRCh38]
Chr16:68713872 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2083C>T (p.Arg695Cys) single nucleotide variant not provided [RCV001318961] Chr16:68695335 [GRCh38]
Chr16:68729238 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.478G>A (p.Val160Ile) single nucleotide variant not provided [RCV001368991] Chr16:68678588 [GRCh38]
Chr16:68712491 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1624A>G (p.Asn542Asp) single nucleotide variant not provided [RCV001341175] Chr16:68687565 [GRCh38]
Chr16:68721468 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.191C>T (p.Ala64Val) single nucleotide variant not provided [RCV001347543] Chr16:68676415 [GRCh38]
Chr16:68710318 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1592C>T (p.Thr531Met) single nucleotide variant not provided [RCV001325898] Chr16:68687533 [GRCh38]
Chr16:68721436 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68679283)_(68679653_?)dup duplication not provided [RCV001319328] Chr16:68679283..68679653 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2341G>A (p.Asp781Asn) single nucleotide variant not provided [RCV001302376] Chr16:68698251 [GRCh38]
Chr16:68732154 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1301T>C (p.Val434Ala) single nucleotide variant not provided [RCV001344331] Chr16:68684701 [GRCh38]
Chr16:68718604 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2041C>T (p.Arg681Trp) single nucleotide variant not provided [RCV001316158] Chr16:68695293 [GRCh38]
Chr16:68729196 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2365G>A (p.Ala789Thr) single nucleotide variant not provided [RCV001322502] Chr16:68698275 [GRCh38]
Chr16:68732178 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.299G>A (p.Arg100His) single nucleotide variant not provided [RCV001344599] Chr16:68678186 [GRCh38]
Chr16:68712089 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1193T>C (p.Phe398Ser) single nucleotide variant not provided [RCV001323739] Chr16:68684593 [GRCh38]
Chr16:68718496 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2245G>T (p.Ala749Ser) single nucleotide variant not provided [RCV001366327] Chr16:68695888 [GRCh38]
Chr16:68729791 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2364C>A (p.Asp788Glu) single nucleotide variant not provided [RCV001324778] Chr16:68698274 [GRCh38]
Chr16:68732177 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1934A>C (p.Glu645Ala) single nucleotide variant not provided [RCV001325367] Chr16:68691858 [GRCh38]
Chr16:68725761 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2404C>A (p.Gln802Lys) single nucleotide variant not provided [RCV001318003] Chr16:68698314 [GRCh38]
Chr16:68732217 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1093A>G (p.Thr365Ala) single nucleotide variant not provided [RCV001318044] Chr16:68682398 [GRCh38]
Chr16:68716301 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1066G>C (p.Ala356Pro) single nucleotide variant not provided [RCV001315033] Chr16:68682371 [GRCh38]
Chr16:68716274 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1120G>A (p.Gly374Arg) single nucleotide variant not provided [RCV001325891] Chr16:68682425 [GRCh38]
Chr16:68716328 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.434T>C (p.Ile145Thr) single nucleotide variant not provided [RCV001316926] Chr16:68678544 [GRCh38]
Chr16:68712447 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.520G>A (p.Asp174Asn) single nucleotide variant not provided [RCV001369212] Chr16:68678630 [GRCh38]
Chr16:68712533 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2086G>A (p.Asp696Asn) single nucleotide variant not provided [RCV001358907] Chr16:68695338 [GRCh38]
Chr16:68729241 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2240G>A (p.Arg747Gln) single nucleotide variant not provided [RCV001306177] Chr16:68695883 [GRCh38]
Chr16:68729786 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1105A>G (p.Met369Val) single nucleotide variant not provided [RCV001349337] Chr16:68682410 [GRCh38]
Chr16:68716313 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1933G>A (p.Glu645Lys) single nucleotide variant not provided [RCV001339571] Chr16:68691857 [GRCh38]
Chr16:68725760 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2234G>A (p.Arg745His) single nucleotide variant not provided [RCV001303941] Chr16:68695877 [GRCh38]
Chr16:68729780 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.582A>C (p.Ser194=) single nucleotide variant not provided [RCV001514258] Chr16:68678797 [GRCh38]
Chr16:68712700 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1566C>T (p.Asp522=) single nucleotide variant not provided [RCV001457588] Chr16:68685346 [GRCh38]
Chr16:68719249 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.507G>A (p.Leu169=) single nucleotide variant not provided [RCV001500354] Chr16:68678617 [GRCh38]
Chr16:68712520 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2394C>T (p.Ser798=) single nucleotide variant not provided [RCV001480299] Chr16:68698304 [GRCh38]
Chr16:68732207 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.456C>T (p.Ser152=) single nucleotide variant not provided [RCV001452300] Chr16:68678566 [GRCh38]
Chr16:68712469 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1893G>A (p.Thr631=) single nucleotide variant not provided [RCV001418416] Chr16:68691817 [GRCh38]
Chr16:68725720 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2070A>C (p.Pro690=) single nucleotide variant not provided [RCV001405726] Chr16:68695322 [GRCh38]
Chr16:68729225 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2355C>T (p.Ser785=) single nucleotide variant not provided [RCV001480140] Chr16:68698265 [GRCh38]
Chr16:68732168 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1603C>T (p.Leu535=) single nucleotide variant not provided [RCV001474361] Chr16:68687544 [GRCh38]
Chr16:68721447 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2130C>T (p.Asp710=) single nucleotide variant not provided [RCV001477159] Chr16:68695382 [GRCh38]
Chr16:68729285 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.997-11C>T single nucleotide variant not provided [RCV001475841] Chr16:68682291 [GRCh38]
Chr16:68716194 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1677C>T (p.Ser559=) single nucleotide variant not provided [RCV001480643] Chr16:68687618 [GRCh38]
Chr16:68721521 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2281-4G>A single nucleotide variant not provided [RCV001456883] Chr16:68698187 [GRCh38]
Chr16:68732090 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1842A>G (p.Thr614=) single nucleotide variant not provided [RCV001416040] Chr16:68691766 [GRCh38]
Chr16:68725669 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2091C>T (p.Asn697=) single nucleotide variant not provided [RCV001493290] Chr16:68695343 [GRCh38]
Chr16:68729246 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1641C>T (p.Val547=) single nucleotide variant not provided [RCV001493329] Chr16:68687582 [GRCh38]
Chr16:68721485 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.45+12C>G single nucleotide variant not provided [RCV001454080] Chr16:68645436 [GRCh38]
Chr16:68679339 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1593G>T (p.Thr531=) single nucleotide variant not provided [RCV001443329] Chr16:68687534 [GRCh38]
Chr16:68721437 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.391-10T>C single nucleotide variant not provided [RCV001406912] Chr16:68678491 [GRCh38]
Chr16:68712394 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1788C>T (p.Asn596=) single nucleotide variant not provided [RCV001412012] Chr16:68687729 [GRCh38]
Chr16:68721632 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.315C>T (p.His105=) single nucleotide variant not provided [RCV001409967] Chr16:68678202 [GRCh38]
Chr16:68712105 [GRCh37]
Chr16:16q22.1
likely benign
NC_000016.9:g.(?_68710288)_(68729826_?)del deletion not provided [RCV001389615] Chr16:68710288..68729826 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1065C>T (p.Asp355=) single nucleotide variant not provided [RCV001430749] Chr16:68682370 [GRCh38]
Chr16:68716273 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1944T>G (p.Pro648=) single nucleotide variant not provided [RCV001446757] Chr16:68691868 [GRCh38]
Chr16:68725771 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.162A>G (p.Val54=) single nucleotide variant not provided [RCV001405356] Chr16:68676386 [GRCh38]
Chr16:68710289 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2244A>G (p.Pro748=) single nucleotide variant not provided [RCV001417289] Chr16:68695887 [GRCh38]
Chr16:68729790 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.708G>A (p.Gln236=) single nucleotide variant not provided [RCV001426095] Chr16:68679815 [GRCh38]
Chr16:68713718 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1519C>T (p.Gln507Ter) single nucleotide variant not provided [RCV001383806] Chr16:68685299 [GRCh38]
Chr16:68719202 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1479G>A (p.Gly493=) single nucleotide variant not provided [RCV001408043] Chr16:68685259 [GRCh38]
Chr16:68719162 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1074C>T (p.Asn358=) single nucleotide variant not provided [RCV001405804] Chr16:68682379 [GRCh38]
Chr16:68716282 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.546+7A>C single nucleotide variant not provided [RCV001415989] Chr16:68678663 [GRCh38]
Chr16:68712566 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.46-2A>G single nucleotide variant not provided [RCV001377191] Chr16:68645634 [GRCh38]
Chr16:68679537 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.525G>A (p.Arg175=) single nucleotide variant not provided [RCV001437904] Chr16:68678635 [GRCh38]
Chr16:68712538 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1758C>T (p.Asp586=) single nucleotide variant not provided [RCV001424074] Chr16:68687699 [GRCh38]
Chr16:68721602 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1764C>T (p.Asp588=) single nucleotide variant not provided [RCV001417966] Chr16:68687705 [GRCh38]
Chr16:68721608 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1182+12C>T single nucleotide variant not provided [RCV001404035] Chr16:68682499 [GRCh38]
Chr16:68716402 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1831_1832del (p.Lys611fs) deletion not provided [RCV001390869] Chr16:68691755..68691756 [GRCh38]
Chr16:68725658..68725659 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2292G>A (p.Ala764=) single nucleotide variant not provided [RCV001448123] Chr16:68698202 [GRCh38]
Chr16:68732105 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1182+19C>T single nucleotide variant not provided [RCV001435299] Chr16:68682506 [GRCh38]
Chr16:68716409 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2374C>T (p.Leu792=) single nucleotide variant not provided [RCV001411532] Chr16:68698284 [GRCh38]
Chr16:68732187 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1818G>A (p.Leu606=) single nucleotide variant not provided [RCV001489841] Chr16:68691742 [GRCh38]
Chr16:68725645 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1404C>T (p.Asp468=) single nucleotide variant not provided [RCV001478411] Chr16:68684804 [GRCh38]
Chr16:68718707 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2370G>A (p.Ala790=) single nucleotide variant not provided [RCV001498969] Chr16:68698280 [GRCh38]
Chr16:68732183 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1861C>T (p.Leu621=) single nucleotide variant not provided [RCV001457533] Chr16:68691785 [GRCh38]
Chr16:68725688 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.549C>T (p.Leu183=) single nucleotide variant not provided [RCV001506144] Chr16:68678764 [GRCh38]
Chr16:68712667 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.692-247G>A single nucleotide variant not provided [RCV001694691] Chr16:68679552 [GRCh38]
Chr16:68713455 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.276A>C (p.Pro92=) single nucleotide variant not provided [RCV001450516] Chr16:68678163 [GRCh38]
Chr16:68712066 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1236C>T (p.Asn412=) single nucleotide variant not provided [RCV001514886] Chr16:68684636 [GRCh38]
Chr16:68718539 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.868-17C>T single nucleotide variant not provided [RCV001509799] Chr16:68680951 [GRCh38]
Chr16:68714854 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.247-194del deletion not provided [RCV001687798] Chr16:68677927 [GRCh38]
Chr16:68711830 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.702G>A (p.Val234=) single nucleotide variant not provided [RCV001480196] Chr16:68679809 [GRCh38]
Chr16:68713712 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.692-129G>C single nucleotide variant not provided [RCV001713527] Chr16:68679670 [GRCh38]
Chr16:68713573 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2367C>T (p.Ala789=) single nucleotide variant not provided [RCV001437971] Chr16:68698277 [GRCh38]
Chr16:68732180 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1614G>A (p.Leu538=) single nucleotide variant not provided [RCV001419047] Chr16:68687555 [GRCh38]
Chr16:68721458 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1424+7A>T single nucleotide variant not provided [RCV001436079] Chr16:68684831 [GRCh38]
Chr16:68718734 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1568A>G (p.Asn523Ser) single nucleotide variant not provided [RCV001513815] Chr16:68685348 [GRCh38]
Chr16:68719251 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1796-6C>T single nucleotide variant not provided [RCV001481597] Chr16:68691714 [GRCh38]
Chr16:68725617 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.882C>T (p.Tyr294=) single nucleotide variant not provided [RCV001481690] Chr16:68680982 [GRCh38]
Chr16:68714885 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2031G>A (p.Val677=) single nucleotide variant not provided [RCV001504877] Chr16:68695283 [GRCh38]
Chr16:68729186 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.684C>T (p.Val228=) single nucleotide variant not provided [RCV001432125] Chr16:68678899 [GRCh38]
Chr16:68712802 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.966T>C (p.Asn322=) single nucleotide variant not provided [RCV001415910] Chr16:68681066 [GRCh38]
Chr16:68714969 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1584C>T (p.Thr528=) single nucleotide variant not provided [RCV001392886] Chr16:68687525 [GRCh38]
Chr16:68721428 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1338C>T (p.Val446=) single nucleotide variant not provided [RCV001434552] Chr16:68684738 [GRCh38]
Chr16:68718641 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1503C>G (p.Leu501=) single nucleotide variant not provided [RCV001485202] Chr16:68685283 [GRCh38]
Chr16:68719186 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2280+10G>A single nucleotide variant not provided [RCV001503958] Chr16:68695933 [GRCh38]
Chr16:68729836 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.547-15C>T single nucleotide variant not provided [RCV001426405] Chr16:68678747 [GRCh38]
Chr16:68712650 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2281-17G>A single nucleotide variant not provided [RCV001456296] Chr16:68698174 [GRCh38]
Chr16:68732077 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.547-6C>T single nucleotide variant not provided [RCV001437458] Chr16:68678756 [GRCh38]
Chr16:68712659 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.975T>C (p.Ala325=) single nucleotide variant not provided [RCV001394256] Chr16:68681075 [GRCh38]
Chr16:68714978 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.665_666dup (p.Ser223fs) duplication Hypotrichosis simplex [RCV002248476] Chr16:68678878..68678879 [GRCh38]
Chr16:68712781..68712782 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2084G>A (p.Arg695His) single nucleotide variant not provided [RCV001769406] Chr16:68695336 [GRCh38]
Chr16:68729239 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1583C>T (p.Thr528Ile) single nucleotide variant not provided [RCV001773971] Chr16:68687524 [GRCh38]
Chr16:68721427 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.160+1G>A single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV002300590]|not provided [RCV001780469] Chr16:68645751 [GRCh38]
Chr16:68679654 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1238A>C (p.Glu413Ala) single nucleotide variant not provided [RCV001756856] Chr16:68684638 [GRCh38]
Chr16:68718541 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2335G>A (p.Val779Met) single nucleotide variant not provided [RCV001908006] Chr16:68698245 [GRCh38]
Chr16:68732148 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.227G>A (p.Arg76Gln) single nucleotide variant not provided [RCV001929209] Chr16:68676451 [GRCh38]
Chr16:68710354 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1642C>T (p.Pro548Ser) single nucleotide variant not provided [RCV001987097] Chr16:68687583 [GRCh38]
Chr16:68721486 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.662G>A (p.Arg221Gln) single nucleotide variant Inborn genetic diseases [RCV003247053]|not provided [RCV001863549] Chr16:68678877 [GRCh38]
Chr16:68712780 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1223T>C (p.Val408Ala) single nucleotide variant not provided [RCV001895740] Chr16:68684623 [GRCh38]
Chr16:68718526 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68697395)_(68713970_?)dup duplication not provided [RCV002004405] Chr16:68697395..68713970 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2280+1dup duplication not provided [RCV001929476] Chr16:68695922..68695923 [GRCh38]
Chr16:68729825..68729826 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
NM_001793.6(CDH3):c.1689_1690delinsCA (p.Gln563_Val564delinsHisMet) indel not provided [RCV001892655] Chr16:68687630..68687631 [GRCh38]
Chr16:68721533..68721534 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1085G>C (p.Trp362Ser) single nucleotide variant not provided [RCV002045025] Chr16:68682390 [GRCh38]
Chr16:68716293 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2240G>T (p.Arg747Leu) single nucleotide variant not provided [RCV002008844] Chr16:68695883 [GRCh38]
Chr16:68729786 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2281A>G (p.Asn761Asp) single nucleotide variant not provided [RCV002043662] Chr16:68698191 [GRCh38]
Chr16:68732094 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.546+9C>G single nucleotide variant not provided [RCV001874057] Chr16:68678665 [GRCh38]
Chr16:68712568 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2405A>G (p.Gln802Arg) single nucleotide variant not provided [RCV002040226] Chr16:68698315 [GRCh38]
Chr16:68732218 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1033G>A (p.Glu345Lys) single nucleotide variant not provided [RCV001893084] Chr16:68682338 [GRCh38]
Chr16:68716241 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2177C>T (p.Pro726Leu) single nucleotide variant not provided [RCV001907890] Chr16:68695820 [GRCh38]
Chr16:68729723 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2374del (p.Ser791_Leu792insTer) deletion not provided [RCV002022041] Chr16:68698282 [GRCh38]
Chr16:68732185 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68710268)_(68713897_?)dup duplication not provided [RCV002004396] Chr16:68710268..68713897 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2386A>C (p.Thr796Pro) single nucleotide variant not provided [RCV002042449] Chr16:68698296 [GRCh38]
Chr16:68732199 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.475G>A (p.Ala159Thr) single nucleotide variant EEM syndrome [RCV002507002]|not provided [RCV001908732] Chr16:68678585 [GRCh38]
Chr16:68712488 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2239C>T (p.Arg747Trp) single nucleotide variant not provided [RCV001965591] Chr16:68695882 [GRCh38]
Chr16:68729785 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1571G>A (p.Gly524Glu) single nucleotide variant not provided [RCV002005168] Chr16:68687512 [GRCh38]
Chr16:68721415 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1147C>G (p.Pro383Ala) single nucleotide variant not provided [RCV001986587] Chr16:68682452 [GRCh38]
Chr16:68716355 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.283A>G (p.Ile95Val) single nucleotide variant not provided [RCV001966253] Chr16:68678170 [GRCh38]
Chr16:68712073 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68679283)_(68679673_?)dup duplication not provided [RCV002020570] Chr16:68679283..68679673 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.926C>T (p.Thr309Ile) single nucleotide variant not provided [RCV001964774] Chr16:68681026 [GRCh38]
Chr16:68714929 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.448G>A (p.Ala150Thr) single nucleotide variant not provided [RCV001983876] Chr16:68678558 [GRCh38]
Chr16:68712461 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1349A>G (p.Gln450Arg) single nucleotide variant not provided [RCV001968413] Chr16:68684749 [GRCh38]
Chr16:68718652 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1474A>G (p.Ser492Gly) single nucleotide variant not provided [RCV001984452] Chr16:68685254 [GRCh38]
Chr16:68719157 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1810T>G (p.Leu604Val) single nucleotide variant not provided [RCV002021219] Chr16:68691734 [GRCh38]
Chr16:68725637 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2320T>G (p.Tyr774Asp) single nucleotide variant not provided [RCV002021257] Chr16:68698230 [GRCh38]
Chr16:68732133 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1837dup (p.Asp613fs) duplication not provided [RCV001948728] Chr16:68691759..68691760 [GRCh38]
Chr16:68725662..68725663 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2476G>A (p.Gly826Arg) single nucleotide variant not provided [RCV001895200] Chr16:68698386 [GRCh38]
Chr16:68732289 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2329C>T (p.Leu777Phe) single nucleotide variant not provided [RCV002007753] Chr16:68698239 [GRCh38]
Chr16:68732142 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68684521-68905837)x3 copy number gain not provided [RCV001827732] Chr16:68684521..68905837 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1651C>T (p.Arg551Cys) single nucleotide variant Inborn genetic diseases [RCV002555214]|not provided [RCV001912453] Chr16:68687592 [GRCh38]
Chr16:68721495 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.59A>G (p.Gln20Arg) single nucleotide variant not provided [RCV002023578] Chr16:68645649 [GRCh38]
Chr16:68679552 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2016GCT[1] (p.Leu676del) microsatellite not provided [RCV002041913] Chr16:68695267..68695269 [GRCh38]
Chr16:68729170..68729172 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.691+1G>C single nucleotide variant not provided [RCV002005731] Chr16:68678907 [GRCh38]
Chr16:68712810 [GRCh37]
Chr16:16q22.1
likely pathogenic
NC_000016.9:g.(?_68679283)_(68867402_?)dup duplication not provided [RCV002020569] Chr16:68679283..68867402 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2215A>T (p.Ile739Phe) single nucleotide variant not provided [RCV001911089] Chr16:68695858 [GRCh38]
Chr16:68729761 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1609A>T (p.Thr537Ser) single nucleotide variant not provided [RCV002018161] Chr16:68687550 [GRCh38]
Chr16:68721453 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2105G>C (p.Gly702Ala) single nucleotide variant not provided [RCV001941022] Chr16:68695357 [GRCh38]
Chr16:68729260 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.340A>G (p.Ile114Val) single nucleotide variant not provided [RCV001980178] Chr16:68678227 [GRCh38]
Chr16:68712130 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.578C>T (p.Ala193Val) single nucleotide variant not provided [RCV001886773] Chr16:68678793 [GRCh38]
Chr16:68712696 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1214C>T (p.Thr405Ile) single nucleotide variant not provided [RCV002000440] Chr16:68684614 [GRCh38]
Chr16:68718517 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2002+2T>G single nucleotide variant not provided [RCV001980794] Chr16:68691928 [GRCh38]
Chr16:68725831 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.559G>T (p.Ala187Ser) single nucleotide variant not provided [RCV001904014] Chr16:68678774 [GRCh38]
Chr16:68712677 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.46-2A>T single nucleotide variant not provided [RCV002033713] Chr16:68645634 [GRCh38]
Chr16:68679537 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.1699A>G (p.Ile567Val) single nucleotide variant not provided [RCV002035110] Chr16:68687640 [GRCh38]
Chr16:68721543 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1902G>T (p.Arg634Ser) single nucleotide variant not provided [RCV001926284] Chr16:68691826 [GRCh38]
Chr16:68725729 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.271A>T (p.Asn91Tyr) single nucleotide variant not provided [RCV002038273] Chr16:68678158 [GRCh38]
Chr16:68712061 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1121G>C (p.Gly374Ala) single nucleotide variant not provided [RCV002001002] Chr16:68682426 [GRCh38]
Chr16:68716329 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.46-1G>C single nucleotide variant not provided [RCV001977515] Chr16:68645635 [GRCh38]
Chr16:68679538 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.1483G>T (p.Val495Phe) single nucleotide variant not provided [RCV002026473] Chr16:68685263 [GRCh38]
Chr16:68719166 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1703C>G (p.Thr568Arg) single nucleotide variant not provided [RCV001977834] Chr16:68687644 [GRCh38]
Chr16:68721547 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.590A>G (p.Asp197Gly) single nucleotide variant not provided [RCV001962778] Chr16:68678805 [GRCh38]
Chr16:68712708 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1398C>A (p.Asp466Glu) single nucleotide variant not provided [RCV002038036] Chr16:68684798 [GRCh38]
Chr16:68718701 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.322G>C (p.Asp108His) single nucleotide variant not provided [RCV001973879] Chr16:68678209 [GRCh38]
Chr16:68712112 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2
uncertain significance
NM_001793.6(CDH3):c.13C>T (p.Arg5Cys) single nucleotide variant not provided [RCV002046972] Chr16:68645392 [GRCh38]
Chr16:68679295 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.824G>T (p.Ser275Ile) single nucleotide variant not provided [RCV001882343] Chr16:68679931 [GRCh38]
Chr16:68713834 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.965A>G (p.Asn322Ser) single nucleotide variant not provided [RCV001867589] Chr16:68681065 [GRCh38]
Chr16:68714968 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2228T>C (p.Met743Thr) single nucleotide variant not provided [RCV002015735] Chr16:68695871 [GRCh38]
Chr16:68729774 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1724A>G (p.His575Arg) single nucleotide variant not provided [RCV002009780] Chr16:68687665 [GRCh38]
Chr16:68721568 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.214G>A (p.Asp72Asn) single nucleotide variant not provided [RCV001875480] Chr16:68676438 [GRCh38]
Chr16:68710341 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1765A>T (p.Ile589Phe) single nucleotide variant not provided [RCV001956765] Chr16:68687706 [GRCh38]
Chr16:68721609 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.914G>A (p.Gly305Glu) single nucleotide variant not provided [RCV001879600] Chr16:68681014 [GRCh38]
Chr16:68714917 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.523C>T (p.Arg175Trp) single nucleotide variant not provided [RCV001878510] Chr16:68678633 [GRCh38]
Chr16:68712536 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2003-2A>G single nucleotide variant not provided [RCV002012719] Chr16:68695253 [GRCh38]
Chr16:68729156 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2230T>C (p.Tyr744His) single nucleotide variant not provided [RCV002033271] Chr16:68695873 [GRCh38]
Chr16:68729776 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2420A>G (p.Asp807Gly) single nucleotide variant not provided [RCV001932252] Chr16:68698330 [GRCh38]
Chr16:68732233 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.385A>C (p.Asn129His) single nucleotide variant not provided [RCV001957494] Chr16:68678272 [GRCh38]
Chr16:68712175 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1789G>A (p.Glu597Lys) single nucleotide variant not provided [RCV002027995] Chr16:68687730 [GRCh38]
Chr16:68721633 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1054A>G (p.Thr352Ala) single nucleotide variant not provided [RCV001934921] Chr16:68682359 [GRCh38]
Chr16:68716262 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1609A>G (p.Thr537Ala) single nucleotide variant not provided [RCV002019388] Chr16:68687550 [GRCh38]
Chr16:68721453 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.772C>A (p.His258Asn) single nucleotide variant not provided [RCV001956713] Chr16:68679879 [GRCh38]
Chr16:68713782 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.813del (p.Ile272fs) deletion not provided [RCV001958529] Chr16:68679919 [GRCh38]
Chr16:68713822 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.980T>C (p.Met327Thr) single nucleotide variant not provided [RCV001938473] Chr16:68681080 [GRCh38]
Chr16:68714983 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1961G>A (p.Gly654Asp) single nucleotide variant not provided [RCV001997666] Chr16:68691885 [GRCh38]
Chr16:68725788 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2003-8C>A single nucleotide variant not provided [RCV002018862] Chr16:68695247 [GRCh38]
Chr16:68729150 [GRCh37]
Chr16:16q22.1
likely benign|uncertain significance
NM_001793.6(CDH3):c.2308dup (p.Thr770fs) duplication not provided [RCV001877648] Chr16:68698217..68698218 [GRCh38]
Chr16:68732120..68732121 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1537A>T (p.Ile513Phe) single nucleotide variant not provided [RCV001920640] Chr16:68685317 [GRCh38]
Chr16:68719220 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2381C>G (p.Ser794Cys) single nucleotide variant not provided [RCV001877713] Chr16:68698291 [GRCh38]
Chr16:68732194 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1507C>T (p.Arg503Cys) single nucleotide variant not provided [RCV001905275] Chr16:68685287 [GRCh38]
Chr16:68719190 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.833C>A (p.Thr278Asn) single nucleotide variant not provided [RCV002028526] Chr16:68679940 [GRCh38]
Chr16:68713843 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1429C>T (p.Arg477Cys) single nucleotide variant not provided [RCV001992650] Chr16:68685209 [GRCh38]
Chr16:68719112 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1850_1851del (p.Val617fs) deletion not provided [RCV001956090] Chr16:68691773..68691774 [GRCh38]
Chr16:68725676..68725677 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1715T>G (p.Leu572Arg) single nucleotide variant not provided [RCV002009461] Chr16:68687656 [GRCh38]
Chr16:68721559 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.661C>T (p.Arg221Ter) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV002300633]|not provided [RCV001960593] Chr16:68678876 [GRCh38]
Chr16:68712779 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.349C>A (p.Pro117Thr) single nucleotide variant not provided [RCV001917145] Chr16:68678236 [GRCh38]
Chr16:68712139 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.578C>A (p.Ala193Asp) single nucleotide variant not provided [RCV002028925] Chr16:68678793 [GRCh38]
Chr16:68712696 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.390+4C>T single nucleotide variant not provided [RCV002048929] Chr16:68678281 [GRCh38]
Chr16:68712184 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_68679283)_(68679673_?)del deletion not provided [RCV001951389] Chr16:68679283..68679673 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1290C>T (p.His430=) single nucleotide variant not provided [RCV001905037] Chr16:68684690 [GRCh38]
Chr16:68718593 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2114G>C (p.Gly705Ala) single nucleotide variant not provided [RCV001901597] Chr16:68695366 [GRCh38]
Chr16:68729269 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1086G>A (p.Trp362Ter) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV002464042]|not provided [RCV001975159] Chr16:68682391 [GRCh38]
Chr16:68716294 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1175C>T (p.Thr392Ile) single nucleotide variant not provided [RCV001897915] Chr16:68682480 [GRCh38]
Chr16:68716383 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.230A>G (p.Asn77Ser) single nucleotide variant not provided [RCV001991544] Chr16:68676454 [GRCh38]
Chr16:68710357 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.118dup (p.Ala40fs) duplication not provided [RCV001972642] Chr16:68645706..68645707 [GRCh38]
Chr16:68679609..68679610 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.785C>T (p.Pro262Leu) single nucleotide variant not provided [RCV001998494] Chr16:68679892 [GRCh38]
Chr16:68713795 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.600C>A (p.Asn200Lys) single nucleotide variant not provided [RCV001907020] Chr16:68678815 [GRCh38]
Chr16:68712718 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1424+1G>C single nucleotide variant not provided [RCV002019655] Chr16:68684825 [GRCh38]
Chr16:68718728 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.2170G>T (p.Ala724Ser) single nucleotide variant not provided [RCV001998967] Chr16:68695813 [GRCh38]
Chr16:68729716 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.233G>T (p.Gly78Val) single nucleotide variant not provided [RCV001990823] Chr16:68676457 [GRCh38]
Chr16:68710360 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1589G>A (p.Gly530Asp) single nucleotide variant not provided [RCV001977448] Chr16:68687530 [GRCh38]
Chr16:68721433 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2389TCC[1] (p.Ser798del) microsatellite not provided [RCV001935006] Chr16:68698297..68698299 [GRCh38]
Chr16:68732200..68732202 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.493G>A (p.Gly165Ser) single nucleotide variant not provided [RCV001915879] Chr16:68678603 [GRCh38]
Chr16:68712506 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1154G>A (p.Ser385Asn) single nucleotide variant Inborn genetic diseases [RCV002571363]|not provided [RCV001977636] Chr16:68682459 [GRCh38]
Chr16:68716362 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.33CCT[1] (p.Leu14del) microsatellite not provided [RCV001958255] Chr16:68645410..68645412 [GRCh38]
Chr16:68679313..68679315 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.868-2A>T single nucleotide variant not provided [RCV001990426] Chr16:68680966 [GRCh38]
Chr16:68714869 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.1371G>T (p.Glu457Asp) single nucleotide variant not provided [RCV001881595] Chr16:68684771 [GRCh38]
Chr16:68718674 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1229T>C (p.Val410Ala) single nucleotide variant not provided [RCV002049268] Chr16:68684629 [GRCh38]
Chr16:68718532 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.348C>T (p.Val116=) single nucleotide variant not provided [RCV002210168] Chr16:68678235 [GRCh38]
Chr16:68712138 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1143C>T (p.Thr381=) single nucleotide variant not provided [RCV002192218] Chr16:68682448 [GRCh38]
Chr16:68716351 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1570+12C>T single nucleotide variant not provided [RCV002192728] Chr16:68685362 [GRCh38]
Chr16:68719265 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2001G>C (p.Leu667=) single nucleotide variant not provided [RCV002170334] Chr16:68691925 [GRCh38]
Chr16:68725828 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.997-16C>T single nucleotide variant not provided [RCV002169013] Chr16:68682286 [GRCh38]
Chr16:68716189 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2304C>T (p.Asp768=) single nucleotide variant not provided [RCV002206403] Chr16:68698214 [GRCh38]
Chr16:68732117 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1845T>C (p.Tyr615=) single nucleotide variant not provided [RCV002147974] Chr16:68691769 [GRCh38]
Chr16:68725672 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.930C>T (p.Thr310=) single nucleotide variant not provided [RCV002148044] Chr16:68681030 [GRCh38]
Chr16:68714933 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1416A>G (p.Gln472=) single nucleotide variant not provided [RCV002167541] Chr16:68684816 [GRCh38]
Chr16:68718719 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2281-14C>T single nucleotide variant not provided [RCV002209026] Chr16:68698177 [GRCh38]
Chr16:68732080 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1914C>T (p.Cys638=) single nucleotide variant not provided [RCV002110453] Chr16:68691838 [GRCh38]
Chr16:68725741 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.45+13C>G single nucleotide variant not provided [RCV002190895] Chr16:68645437 [GRCh38]
Chr16:68679340 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2268C>T (p.Asn756=) single nucleotide variant not provided [RCV002126333] Chr16:68695911 [GRCh38]
Chr16:68729814 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.867+12_867+33del deletion not provided [RCV002207955] Chr16:68679983..68680004 [GRCh38]
Chr16:68713886..68713907 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.390+17T>C single nucleotide variant not provided [RCV002209755] Chr16:68678294 [GRCh38]
Chr16:68712197 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.277T>C (p.Leu93=) single nucleotide variant not provided [RCV002134348] Chr16:68678164 [GRCh38]
Chr16:68712067 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1932C>G (p.Val644=) single nucleotide variant not provided [RCV002174205] Chr16:68691856 [GRCh38]
Chr16:68725759 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1182+8A>C single nucleotide variant not provided [RCV002094025] Chr16:68682495 [GRCh38]
Chr16:68716398 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1796-14T>A single nucleotide variant not provided [RCV002173382] Chr16:68691706 [GRCh38]
Chr16:68725609 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.161-8C>A single nucleotide variant not provided [RCV002132862] Chr16:68676377 [GRCh38]
Chr16:68710280 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1806G>C (p.Val602=) single nucleotide variant not provided [RCV002126127] Chr16:68691730 [GRCh38]
Chr16:68725633 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2352C>T (p.Gly784=) single nucleotide variant not provided [RCV002213088] Chr16:68698262 [GRCh38]
Chr16:68732165 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.642G>A (p.Lys214=) single nucleotide variant not provided [RCV002109527] Chr16:68678857 [GRCh38]
Chr16:68712760 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1104C>T (p.Ile368=) single nucleotide variant not provided [RCV002131339] Chr16:68682409 [GRCh38]
Chr16:68716312 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.46-18C>T single nucleotide variant not provided [RCV002195741] Chr16:68645618 [GRCh38]
Chr16:68679521 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.573T>C (p.Asn191=) single nucleotide variant not provided [RCV002071542] Chr16:68678788 [GRCh38]
Chr16:68712691 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1662C>T (p.Thr554=) single nucleotide variant not provided [RCV002095390] Chr16:68687603 [GRCh38]
Chr16:68721506 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.391-18A>T single nucleotide variant not provided [RCV002171579] Chr16:68678483 [GRCh38]
Chr16:68712386 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1116C>T (p.Asp372=) single nucleotide variant not provided [RCV002116883] Chr16:68682421 [GRCh38]
Chr16:68716324 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2281-5C>T single nucleotide variant not provided [RCV002186244] Chr16:68698186 [GRCh38]
Chr16:68732089 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1795+20T>C single nucleotide variant not provided [RCV002168465] Chr16:68687756 [GRCh38]
Chr16:68721659 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.102T>C (p.Ala34=) single nucleotide variant not provided [RCV002192775] Chr16:68645692 [GRCh38]
Chr16:68679595 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.840C>T (p.Ser280=) single nucleotide variant not provided [RCV002194192] Chr16:68679947 [GRCh38]
Chr16:68713850 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1503C>T (p.Leu501=) single nucleotide variant not provided [RCV002165738] Chr16:68685283 [GRCh38]
Chr16:68719186 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2003-16T>A single nucleotide variant not provided [RCV002165748] Chr16:68695239 [GRCh38]
Chr16:68729142 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2142C>T (p.Asp714=) single nucleotide variant not provided [RCV002146278] Chr16:68695785 [GRCh38]
Chr16:68729688 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2133+14_2133+22del deletion not provided [RCV002115959] Chr16:68695394..68695402 [GRCh38]
Chr16:68729297..68729305 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.1182+13G>C single nucleotide variant not provided [RCV002096901] Chr16:68682500 [GRCh38]
Chr16:68716403 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.108G>A (p.Val36=) single nucleotide variant not provided [RCV002170746] Chr16:68645698 [GRCh38]
Chr16:68679601 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.753G>A (p.Gly251=) single nucleotide variant not provided [RCV002149539] Chr16:68679860 [GRCh38]
Chr16:68713763 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1183-15C>T single nucleotide variant not provided [RCV002076865] Chr16:68684568 [GRCh38]
Chr16:68718471 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.618C>T (p.Thr206=) single nucleotide variant not provided [RCV002094885] Chr16:68678833 [GRCh38]
Chr16:68712736 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1467C>T (p.Asp489=) single nucleotide variant not provided [RCV002171565] Chr16:68685247 [GRCh38]
Chr16:68719150 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1746G>A (p.Gln582=) single nucleotide variant not provided [RCV002151564] Chr16:68687687 [GRCh38]
Chr16:68721590 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1347C>G (p.Val449=) single nucleotide variant not provided [RCV002202781] Chr16:68684747 [GRCh38]
Chr16:68718650 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2316G>A (p.Pro772=) single nucleotide variant not provided [RCV002161339] Chr16:68698226 [GRCh38]
Chr16:68732129 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.160+11C>T single nucleotide variant not provided [RCV002153913] Chr16:68645761 [GRCh38]
Chr16:68679664 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1038G>A (p.Val346=) single nucleotide variant not provided [RCV002156538] Chr16:68682343 [GRCh38]
Chr16:68716246 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.246+10C>G single nucleotide variant not provided [RCV002162108] Chr16:68676480 [GRCh38]
Chr16:68710383 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.6G>A (p.Gly2=) single nucleotide variant not provided [RCV002099756] Chr16:68645385 [GRCh38]
Chr16:68679288 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2164C>T (p.Leu722=) single nucleotide variant not provided [RCV002161151] Chr16:68695807 [GRCh38]
Chr16:68729710 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.249A>G (p.Glu83=) single nucleotide variant not provided [RCV002084114] Chr16:68678136 [GRCh38]
Chr16:68712039 [GRCh37]
Chr16:16q22.1
likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
NM_001793.6(CDH3):c.1560C>T (p.Ala520=) single nucleotide variant not provided [RCV002138206] Chr16:68685340 [GRCh38]
Chr16:68719243 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2134-14G>A single nucleotide variant not provided [RCV002101038] Chr16:68695763 [GRCh38]
Chr16:68729666 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2262C>T (p.Ile754=) single nucleotide variant not provided [RCV002118614] Chr16:68695905 [GRCh38]
Chr16:68729808 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1424+11G>A single nucleotide variant not provided [RCV002161559] Chr16:68684835 [GRCh38]
Chr16:68718738 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1796-8C>T single nucleotide variant not provided [RCV002161606] Chr16:68691712 [GRCh38]
Chr16:68725615 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1714C>T (p.Leu572=) single nucleotide variant not provided [RCV002139841] Chr16:68687655 [GRCh38]
Chr16:68721558 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2280+16C>G single nucleotide variant not provided [RCV002183923] Chr16:68695939 [GRCh38]
Chr16:68729842 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1497C>G (p.Gly499=) single nucleotide variant not provided [RCV002156965] Chr16:68685277 [GRCh38]
Chr16:68719180 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1182+9G>A single nucleotide variant not provided [RCV002160880] Chr16:68682496 [GRCh38]
Chr16:68716399 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1571-20A>G single nucleotide variant not provided [RCV002121056] Chr16:68687492 [GRCh38]
Chr16:68721395 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2281-5C>G single nucleotide variant not provided [RCV003114818] Chr16:68698186 [GRCh38]
Chr16:68732089 [GRCh37]
Chr16:16q22.1
likely benign
NC_000016.9:g.(?_68679283)_(68857549_?)dup duplication Hereditary diffuse gastric adenocarcinoma [RCV003113447] Chr16:68679283..68857549 [GRCh37]
Chr16:16q22.1
uncertain significance
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2
uncertain significance
NM_001793.6(CDH3):c.161-23C>T single nucleotide variant not provided [RCV003129267] Chr16:68676362 [GRCh38]
Chr16:68710265 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.958G>A (p.Asp320Asn) single nucleotide variant Congenital hypotrichosis with juvenile macular dystrophy [RCV003148485]|EEM syndrome [RCV003148486] Chr16:68681058 [GRCh38]
Chr16:68714961 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2236C>T (p.Pro746Ser) single nucleotide variant not provided [RCV002260741] Chr16:68695879 [GRCh38]
Chr16:68729782 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1561A>G (p.Met521Val) single nucleotide variant not provided [RCV002297155] Chr16:68685341 [GRCh38]
Chr16:68719244 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.743C>A (p.Thr248Asn) single nucleotide variant Inborn genetic diseases [RCV003164504]|not provided [RCV002297438] Chr16:68679850 [GRCh38]
Chr16:68713753 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1424+4C>T single nucleotide variant not provided [RCV002991374] Chr16:68684828 [GRCh38]
Chr16:68718731 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.532A>G (p.Ile178Val) single nucleotide variant not provided [RCV002301722] Chr16:68678642 [GRCh38]
Chr16:68712545 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1869C>A (p.Asp623Glu) single nucleotide variant not provided [RCV002299959] Chr16:68691793 [GRCh38]
Chr16:68725696 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1758C>G (p.Asp586Glu) single nucleotide variant not provided [RCV002301311] Chr16:68687699 [GRCh38]
Chr16:68721602 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2407G>A (p.Asp803Asn) single nucleotide variant not provided [RCV002299393] Chr16:68698317 [GRCh38]
Chr16:68732220 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2165T>C (p.Leu722Pro) single nucleotide variant not provided [RCV002837535] Chr16:68695808 [GRCh38]
Chr16:68729711 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1104_1106del (p.Ile368del) deletion not provided [RCV003033461] Chr16:68682407..68682409 [GRCh38]
Chr16:68716310..68716312 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.78G>C (p.Pro26=) single nucleotide variant not provided [RCV002731050] Chr16:68645668 [GRCh38]
Chr16:68679571 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1668C>T (p.Cys556=) single nucleotide variant not provided [RCV002861876] Chr16:68687609 [GRCh38]
Chr16:68721512 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.77C>G (p.Pro26Arg) single nucleotide variant Inborn genetic diseases [RCV002729333] Chr16:68645667 [GRCh38]
Chr16:68679570 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.446G>A (p.Gly149Glu) single nucleotide variant not provided [RCV002617030] Chr16:68678556 [GRCh38]
Chr16:68712459 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1146C>G (p.His382Gln) single nucleotide variant not provided [RCV002636162] Chr16:68682451 [GRCh38]
Chr16:68716354 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.45+12C>T single nucleotide variant not provided [RCV002618307] Chr16:68645436 [GRCh38]
Chr16:68679339 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.873C>G (p.Val291=) single nucleotide variant not provided [RCV002685513] Chr16:68680973 [GRCh38]
Chr16:68714876 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.103G>A (p.Glu35Lys) single nucleotide variant not provided [RCV003032743] Chr16:68645693 [GRCh38]
Chr16:68679596 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.178G>C (p.Gly60Arg) single nucleotide variant not provided [RCV002754958] Chr16:68676402 [GRCh38]
Chr16:68710305 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2441G>A (p.Ser814Asn) single nucleotide variant not provided [RCV002751100] Chr16:68698351 [GRCh38]
Chr16:68732254 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1796-13C>T single nucleotide variant not provided [RCV002815473] Chr16:68691707 [GRCh38]
Chr16:68725610 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2280+11G>C single nucleotide variant not provided [RCV003032564] Chr16:68695934 [GRCh38]
Chr16:68729837 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1465G>A (p.Asp489Asn) single nucleotide variant not provided [RCV002838818] Chr16:68685245 [GRCh38]
Chr16:68719148 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1114del (p.Asp372fs) deletion not provided [RCV002863544] Chr16:68682419 [GRCh38]
Chr16:68716322 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2003-17C>T single nucleotide variant not provided [RCV002994999] Chr16:68695238 [GRCh38]
Chr16:68729141 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.962C>T (p.Ala321Val) single nucleotide variant not provided [RCV002755381] Chr16:68681062 [GRCh38]
Chr16:68714965 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.46-16C>T single nucleotide variant not provided [RCV002839019] Chr16:68645620 [GRCh38]
Chr16:68679523 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2423A>T (p.Tyr808Phe) single nucleotide variant not provided [RCV003017006] Chr16:68698333 [GRCh38]
Chr16:68732236 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.116_118del (p.Glu39del) deletion not provided [RCV002815424] Chr16:68645704..68645706 [GRCh38]
Chr16:68679607..68679609 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1684C>T (p.Arg562Cys) single nucleotide variant Inborn genetic diseases [RCV002818548] Chr16:68687625 [GRCh38]
Chr16:68721528 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2052G>A (p.Lys684=) single nucleotide variant not provided [RCV002819142] Chr16:68695304 [GRCh38]
Chr16:68729207 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.896A>G (p.Gln299Arg) single nucleotide variant not provided [RCV003017219] Chr16:68680996 [GRCh38]
Chr16:68714899 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2281-19C>T single nucleotide variant not provided [RCV003033722] Chr16:68698172 [GRCh38]
Chr16:68732075 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1391C>T (p.Ala464Val) single nucleotide variant not provided [RCV003003175] Chr16:68684791 [GRCh38]
Chr16:68718694 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1331C>T (p.Ser444Phe) single nucleotide variant not provided [RCV003002883] Chr16:68684731 [GRCh38]
Chr16:68718634 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2099A>G (p.Tyr700Cys) single nucleotide variant not provided [RCV002823815] Chr16:68695351 [GRCh38]
Chr16:68729254 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1934A>G (p.Glu645Gly) single nucleotide variant not provided [RCV002640397] Chr16:68691858 [GRCh38]
Chr16:68725761 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2377A>C (p.Ser793Arg) single nucleotide variant not provided [RCV002740382] Chr16:68698287 [GRCh38]
Chr16:68732190 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.692-8C>T single nucleotide variant not provided [RCV003019650] Chr16:68679791 [GRCh38]
Chr16:68713694 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1355G>A (p.Gly452Asp) single nucleotide variant not provided [RCV002590704] Chr16:68684755 [GRCh38]
Chr16:68718658 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.843C>G (p.Val281=) single nucleotide variant not provided [RCV003018321] Chr16:68679950 [GRCh38]
Chr16:68713853 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2192G>T (p.Arg731Leu) single nucleotide variant not provided [RCV003037767] Chr16:68695835 [GRCh38]
Chr16:68729738 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.978dup (p.Met327fs) duplication not provided [RCV003054351] Chr16:68681075..68681076 [GRCh38]
Chr16:68714978..68714979 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2280+8G>A single nucleotide variant not provided [RCV002591643] Chr16:68695931 [GRCh38]
Chr16:68729834 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1165A>G (p.Ile389Val) single nucleotide variant not provided [RCV002658798] Chr16:68682470 [GRCh38]
Chr16:68716373 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2315C>T (p.Pro772Leu) single nucleotide variant Inborn genetic diseases [RCV002640222]|not provided [RCV002637882] Chr16:68698225 [GRCh38]
Chr16:68732128 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2133+6G>T single nucleotide variant not provided [RCV002820532] Chr16:68695391 [GRCh38]
Chr16:68729294 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.656C>T (p.Thr219Ile) single nucleotide variant not provided [RCV002590975] Chr16:68678871 [GRCh38]
Chr16:68712774 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.547-7C>A single nucleotide variant not provided [RCV003020156] Chr16:68678755 [GRCh38]
Chr16:68712658 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2264G>T (p.Gly755Val) single nucleotide variant not provided [RCV003055083] Chr16:68695907 [GRCh38]
Chr16:68729810 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.807G>A (p.Met269Ile) single nucleotide variant not provided [RCV002998876] Chr16:68679914 [GRCh38]
Chr16:68713817 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.806T>C (p.Met269Thr) single nucleotide variant CDH3-related condition [RCV003418548]|not provided [RCV002570322] Chr16:68679913 [GRCh38]
Chr16:68713816 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.634A>G (p.Lys212Glu) single nucleotide variant not provided [RCV003036930] Chr16:68678849 [GRCh38]
Chr16:68712752 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1201A>C (p.Lys401Gln) single nucleotide variant Inborn genetic diseases [RCV002821550] Chr16:68684601 [GRCh38]
Chr16:68718504 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1571-13T>G single nucleotide variant not provided [RCV002706704] Chr16:68687499 [GRCh38]
Chr16:68721402 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV003037776] Chr16:68679867 [GRCh38]
Chr16:68713770 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.996+16C>T single nucleotide variant not provided [RCV002829894] Chr16:68681112 [GRCh38]
Chr16:68715015 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2134-15T>G single nucleotide variant not provided [RCV002791479] Chr16:68695762 [GRCh38]
Chr16:68729665 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.299G>T (p.Arg100Leu) single nucleotide variant not provided [RCV003024342] Chr16:68678186 [GRCh38]
Chr16:68712089 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1710G>C (p.Lys570Asn) single nucleotide variant not provided [RCV003023911] Chr16:68687651 [GRCh38]
Chr16:68721554 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.390+1G>C single nucleotide variant not provided [RCV002668004] Chr16:68678278 [GRCh38]
Chr16:68712181 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.1377G>A (p.Val459=) single nucleotide variant not provided [RCV002893997] Chr16:68684777 [GRCh38]
Chr16:68718680 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.14G>A (p.Arg5His) single nucleotide variant not provided [RCV002957658] Chr16:68645393 [GRCh38]
Chr16:68679296 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2400C>T (p.Ser800=) single nucleotide variant not provided [RCV002666758] Chr16:68698310 [GRCh38]
Chr16:68732213 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.226C>T (p.Arg76Trp) single nucleotide variant not provided [RCV003042231] Chr16:68676450 [GRCh38]
Chr16:68710353 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1583C>G (p.Thr528Ser) single nucleotide variant not provided [RCV003005863] Chr16:68687524 [GRCh38]
Chr16:68721427 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1944T>C (p.Pro648=) single nucleotide variant not provided [RCV003006050] Chr16:68691868 [GRCh38]
Chr16:68725771 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.246+17A>G single nucleotide variant not provided [RCV002700177] Chr16:68676487 [GRCh38]
Chr16:68710390 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1041G>C (p.Gln347His) single nucleotide variant not provided [RCV003040121] Chr16:68682346 [GRCh38]
Chr16:68716249 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2051A>G (p.Lys684Arg) single nucleotide variant Inborn genetic diseases [RCV002700041]|not provided [RCV002700040] Chr16:68695303 [GRCh38]
Chr16:68729206 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1111G>C (p.Gly371Arg) single nucleotide variant not provided [RCV003023634] Chr16:68682416 [GRCh38]
Chr16:68716319 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.832A>G (p.Thr278Ala) single nucleotide variant not provided [RCV003040850] Chr16:68679939 [GRCh38]
Chr16:68713842 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.292T>C (p.Ser98Pro) single nucleotide variant Inborn genetic diseases [RCV003170954]|not provided [RCV003056123] Chr16:68678179 [GRCh38]
Chr16:68712082 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1011G>T (p.Val337=) single nucleotide variant not provided [RCV003041005] Chr16:68682316 [GRCh38]
Chr16:68716219 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.391-7_391-3del deletion not provided [RCV003057430] Chr16:68678493..68678497 [GRCh38]
Chr16:68712396..68712400 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2190C>T (p.Leu730=) single nucleotide variant not provided [RCV003059614] Chr16:68695833 [GRCh38]
Chr16:68729736 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.923C>T (p.Ser308Phe) single nucleotide variant not provided [RCV002663829] Chr16:68681023 [GRCh38]
Chr16:68714926 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.46-5C>T single nucleotide variant not provided [RCV002765548] Chr16:68645631 [GRCh38]
Chr16:68679534 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1478G>T (p.Gly493Val) single nucleotide variant not provided [RCV002800731] Chr16:68685258 [GRCh38]
Chr16:68719161 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.636G>C (p.Lys212Asn) single nucleotide variant not provided [RCV002627124] Chr16:68678851 [GRCh38]
Chr16:68712754 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2238_2239delinsCA (p.Pro746_Arg747=) indel not provided [RCV003056341] Chr16:68695881..68695882 [GRCh38]
Chr16:68729784..68729785 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2457G>T (p.Leu819=) single nucleotide variant not provided [RCV002801880] Chr16:68698367 [GRCh38]
Chr16:68732270 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1437G>A (p.Leu479=) single nucleotide variant not provided [RCV002643304] Chr16:68685217 [GRCh38]
Chr16:68719120 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2001G>A (p.Leu667=) single nucleotide variant not provided [RCV003025575] Chr16:68691925 [GRCh38]
Chr16:68725828 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2148C>T (p.Thr716=) single nucleotide variant not provided [RCV002701044] Chr16:68695791 [GRCh38]
Chr16:68729694 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1871A>G (p.His624Arg) single nucleotide variant not provided [RCV002829701] Chr16:68691795 [GRCh38]
Chr16:68725698 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.933G>A (p.Thr311=) single nucleotide variant not provided [RCV003082023] Chr16:68681033 [GRCh38]
Chr16:68714936 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.582A>G (p.Ser194=) single nucleotide variant not provided [RCV002766572] Chr16:68678797 [GRCh38]
Chr16:68712700 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.932C>T (p.Thr311Met) single nucleotide variant Inborn genetic diseases [RCV002626087]|not provided [RCV002604880] Chr16:68681032 [GRCh38]
Chr16:68714935 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2003-11A>C single nucleotide variant not provided [RCV003023680] Chr16:68695244 [GRCh38]
Chr16:68729147 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.636G>A (p.Lys212=) single nucleotide variant not provided [RCV003023664] Chr16:68678851 [GRCh38]
Chr16:68712754 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.458C>T (p.Pro153Leu) single nucleotide variant not provided [RCV003029919] Chr16:68678568 [GRCh38]
Chr16:68712471 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.757G>C (p.Val253Leu) single nucleotide variant Inborn genetic diseases [RCV002900963] Chr16:68679864 [GRCh38]
Chr16:68713767 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.885A>G (p.Thr295=) single nucleotide variant not provided [RCV003049459] Chr16:68680985 [GRCh38]
Chr16:68714888 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.125G>A (p.Gly42Asp) single nucleotide variant not provided [RCV003031897] Chr16:68645715 [GRCh38]
Chr16:68679618 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1796-2A>G single nucleotide variant not provided [RCV003064354] Chr16:68691718 [GRCh38]
Chr16:68725621 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.316_317del (p.Lys106fs) deletion not provided [RCV003064352] Chr16:68678203..68678204 [GRCh38]
Chr16:68712106..68712107 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.613G>A (p.Val205Met) single nucleotide variant not provided [RCV003064353] Chr16:68678828 [GRCh38]
Chr16:68712731 [GRCh37]
Chr16:16q22.1
likely pathogenic|uncertain significance
NM_001793.6(CDH3):c.1980G>A (p.Leu660=) single nucleotide variant not provided [RCV002631427] Chr16:68691904 [GRCh38]
Chr16:68725807 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.633C>G (p.His211Gln) single nucleotide variant not provided [RCV002720800] Chr16:68678848 [GRCh38]
Chr16:68712751 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1571-16G>A single nucleotide variant not provided [RCV003027573] Chr16:68687496 [GRCh38]
Chr16:68721399 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.78G>T (p.Pro26=) single nucleotide variant not provided [RCV003063279] Chr16:68645668 [GRCh38]
Chr16:68679571 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.158A>G (p.Lys53Arg) single nucleotide variant not provided [RCV002856174] Chr16:68645748 [GRCh38]
Chr16:68679651 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1335A>G (p.Lys445=) single nucleotide variant not provided [RCV002578166] Chr16:68684735 [GRCh38]
Chr16:68718638 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.234C>T (p.Gly78=) single nucleotide variant not provided [RCV002578903] Chr16:68676458 [GRCh38]
Chr16:68710361 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.243C>G (p.Val81=) single nucleotide variant not provided [RCV002600353] Chr16:68676467 [GRCh38]
Chr16:68710370 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1305T>C (p.Asn435=) single nucleotide variant not provided [RCV003026265] Chr16:68684705 [GRCh38]
Chr16:68718608 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2365G>T (p.Ala789Ser) single nucleotide variant Inborn genetic diseases [RCV002792505] Chr16:68698275 [GRCh38]
Chr16:68732178 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1182+6T>A single nucleotide variant not provided [RCV003046365] Chr16:68682493 [GRCh38]
Chr16:68716396 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2219C>T (p.Pro740Leu) single nucleotide variant not provided [RCV003009547] Chr16:68695862 [GRCh38]
Chr16:68729765 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2324A>T (p.Asp775Val) single nucleotide variant Inborn genetic diseases [RCV002747008] Chr16:68698234 [GRCh38]
Chr16:68732137 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.667A>T (p.Ser223Cys) single nucleotide variant Inborn genetic diseases [RCV002719160] Chr16:68678882 [GRCh38]
Chr16:68712785 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.809T>G (p.Phe270Cys) single nucleotide variant not provided [RCV003030894] Chr16:68679916 [GRCh38]
Chr16:68713819 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.33C>T (p.Leu11=) single nucleotide variant not provided [RCV003029443] Chr16:68645412 [GRCh38]
Chr16:68679315 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1019A>T (p.Asn340Ile) single nucleotide variant not provided [RCV002646139] Chr16:68682324 [GRCh38]
Chr16:68716227 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1425-4C>T single nucleotide variant not provided [RCV002877451] Chr16:68685201 [GRCh38]
Chr16:68719104 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.401_403delinsTT (p.Asn134fs) indel not provided [RCV002716528] Chr16:68678511..68678513 [GRCh38]
Chr16:68712414..68712416 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2134-13C>T single nucleotide variant not provided [RCV002578706] Chr16:68695764 [GRCh38]
Chr16:68729667 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1506C>T (p.Asp502=) single nucleotide variant not provided [RCV002988430] Chr16:68685286 [GRCh38]
Chr16:68719189 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.546+15G>A single nucleotide variant not provided [RCV002810180] Chr16:68678671 [GRCh38]
Chr16:68712574 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.222del (p.Val75fs) deletion not provided [RCV002938307] Chr16:68676446 [GRCh38]
Chr16:68710349 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.1183-9C>G single nucleotide variant not provided [RCV002857151] Chr16:68684574 [GRCh38]
Chr16:68718477 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.390+11G>A single nucleotide variant not provided [RCV002630909] Chr16:68678288 [GRCh38]
Chr16:68712191 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1462A>G (p.Met488Val) single nucleotide variant not provided [RCV002988735] Chr16:68685242 [GRCh38]
Chr16:68719145 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.45+6C>A single nucleotide variant not provided [RCV002580502] Chr16:68645430 [GRCh38]
Chr16:68679333 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2281-19C>G single nucleotide variant not provided [RCV002600612] Chr16:68698172 [GRCh38]
Chr16:68732075 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.44A>G (p.Gln15Arg) single nucleotide variant not provided [RCV003048757] Chr16:68645423 [GRCh38]
Chr16:68679326 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2485G>A (p.Asp829Asn) single nucleotide variant not provided [RCV002649670] Chr16:68698395 [GRCh38]
Chr16:68732298 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2304C>A (p.Asp768Glu) single nucleotide variant not provided [RCV002646204] Chr16:68698214 [GRCh38]
Chr16:68732117 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.246+6A>T single nucleotide variant not provided [RCV003086443] Chr16:68676476 [GRCh38]
Chr16:68710379 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.927dup (p.Thr310fs) duplication not provided [RCV002922170] Chr16:68681025..68681026 [GRCh38]
Chr16:68714928..68714929 [GRCh37]
Chr16:16q22.1
pathogenic
NM_001793.6(CDH3):c.2106C>T (p.Gly702=) single nucleotide variant not provided [RCV002602070] Chr16:68695358 [GRCh38]
Chr16:68729261 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2002+18A>G single nucleotide variant not provided [RCV002634922] Chr16:68691944 [GRCh38]
Chr16:68725847 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.331G>T (p.Val111Phe) single nucleotide variant not provided [RCV002654229] Chr16:68678218 [GRCh38]
Chr16:68712121 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1849G>A (p.Val617Met) single nucleotide variant not provided [RCV002676715] Chr16:68691773 [GRCh38]
Chr16:68725676 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.108G>T (p.Val36=) single nucleotide variant not provided [RCV002657938] Chr16:68645698 [GRCh38]
Chr16:68679601 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1233C>T (p.Thr411=) single nucleotide variant not provided [RCV002658312] Chr16:68684633 [GRCh38]
Chr16:68718536 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1183G>A (p.Gly395Ser) single nucleotide variant not provided [RCV002653990] Chr16:68684583 [GRCh38]
Chr16:68718486 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1182+13G>A single nucleotide variant not provided [RCV002604898] Chr16:68682500 [GRCh38]
Chr16:68716403 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1884G>A (p.Glu628=) single nucleotide variant not provided [RCV002608528] Chr16:68691808 [GRCh38]
Chr16:68725711 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1302G>A (p.Val434=) single nucleotide variant not provided [RCV002653651] Chr16:68684702 [GRCh38]
Chr16:68718605 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.652G>C (p.Asp218His) single nucleotide variant not provided [RCV002814763] Chr16:68678867 [GRCh38]
Chr16:68712770 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.954C>T (p.Ile318=) single nucleotide variant not provided [RCV002944021] Chr16:68681054 [GRCh38]
Chr16:68714957 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.142G>C (p.Gly48Arg) single nucleotide variant Inborn genetic diseases [RCV003049751]|not provided [RCV003049750] Chr16:68645732 [GRCh38]
Chr16:68679635 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1978C>T (p.Leu660=) single nucleotide variant not provided [RCV002814702] Chr16:68691902 [GRCh38]
Chr16:68725805 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.246+9C>T single nucleotide variant not provided [RCV003051804] Chr16:68676479 [GRCh38]
Chr16:68710382 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.999C>T (p.Tyr333=) single nucleotide variant not provided [RCV002589535] Chr16:68682304 [GRCh38]
Chr16:68716207 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.971A>G (p.Asn324Ser) single nucleotide variant not provided [RCV002583143] Chr16:68681071 [GRCh38]
Chr16:68714974 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1796-11G>A single nucleotide variant not provided [RCV002635720] Chr16:68691709 [GRCh38]
Chr16:68725612 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2220G>A (p.Pro740=) single nucleotide variant not provided [RCV002590200] Chr16:68695863 [GRCh38]
Chr16:68729766 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.504G>T (p.Leu168Phe) single nucleotide variant Inborn genetic diseases [RCV003186477] Chr16:68678614 [GRCh38]
Chr16:68712517 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.2083C>G (p.Arg695Gly) single nucleotide variant Inborn genetic diseases [RCV003288024] Chr16:68695335 [GRCh38]
Chr16:68729238 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1473C>G (p.Asp491Glu) single nucleotide variant not provided [RCV003712696] Chr16:68685253 [GRCh38]
Chr16:68719156 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1658T>A (p.Ile553Asn) single nucleotide variant not provided [RCV003872835] Chr16:68687599 [GRCh38]
Chr16:68721502 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.978C>T (p.Pro326=) single nucleotide variant not provided [RCV003712674] Chr16:68681078 [GRCh38]
Chr16:68714981 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.46-9C>A single nucleotide variant not provided [RCV003571698] Chr16:68645627 [GRCh38]
Chr16:68679530 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68565700-68700117)x1 copy number loss not provided [RCV003483291] Chr16:68565700..68700117 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 copy number gain not provided [RCV003485117] Chr16:67498380..68754276 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3 copy number gain not provided [RCV003485118] Chr16:68292285..69424236 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.296A>G (p.Lys99Arg) single nucleotide variant not provided [RCV003411381] Chr16:68678183 [GRCh38]
Chr16:68712086 [GRCh37]
Chr16:16q22.1
likely benign
NC_000016.10:g.68722497C>G single nucleotide variant not provided [RCV003419384] Chr16:68722497 [GRCh38]
Chr16:68756400 [GRCh37]
Chr16:16q22.1
benign
NM_001793.6(CDH3):c.2322C>T (p.Tyr774=) single nucleotide variant not provided [RCV003715859] Chr16:68698232 [GRCh38]
Chr16:68732135 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.45+8A>C single nucleotide variant not provided [RCV003831448] Chr16:68645432 [GRCh38]
Chr16:68679335 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1110C>T (p.Gly370=) single nucleotide variant not provided [RCV003831524] Chr16:68682415 [GRCh38]
Chr16:68716318 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1557G>A (p.Leu519=) single nucleotide variant not provided [RCV003576992] Chr16:68685337 [GRCh38]
Chr16:68719240 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.247-13T>C single nucleotide variant not provided [RCV003713626] Chr16:68678121 [GRCh38]
Chr16:68712024 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.546+19C>G single nucleotide variant not provided [RCV003829405] Chr16:68678675 [GRCh38]
Chr16:68712578 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1573A>C (p.Ser525Arg) single nucleotide variant not provided [RCV003716130] Chr16:68687514 [GRCh38]
Chr16:68721417 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1666T>G (p.Cys556Gly) single nucleotide variant not provided [RCV003689604] Chr16:68687607 [GRCh38]
Chr16:68721510 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001793.6(CDH3):c.1254G>C (p.Leu418=) single nucleotide variant not provided [RCV003827781] Chr16:68684654 [GRCh38]
Chr16:68718557 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1571-8A>G single nucleotide variant not provided [RCV003695091] Chr16:68687504 [GRCh38]
Chr16:68721407 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.247-2A>C single nucleotide variant not provided [RCV003690429] Chr16:68678132 [GRCh38]
Chr16:68712035 [GRCh37]
Chr16:16q22.1
likely pathogenic
NM_001793.6(CDH3):c.222T>C (p.Thr74=) single nucleotide variant not provided [RCV003689384] Chr16:68676446 [GRCh38]
Chr16:68710349 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1389T>G (p.Thr463=) single nucleotide variant not provided [RCV003663953] Chr16:68684789 [GRCh38]
Chr16:68718692 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1795+18G>A single nucleotide variant not provided [RCV003580892] Chr16:68687754 [GRCh38]
Chr16:68721657 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.45+9C>T single nucleotide variant not provided [RCV003549864] Chr16:68645433 [GRCh38]
Chr16:68679336 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.1407G>A (p.Lys469=) single nucleotide variant not provided [RCV003698686] Chr16:68684807 [GRCh38]
Chr16:68718710 [GRCh37]
Chr16:16q22.1
likely benign
NM_001793.6(CDH3):c.2112G>A (p.Glu704=) single nucleotide variant not provided [RCV003811112] Chr16:68695364 [GRCh38]
Chr16:68729267 [GRCh37]
Chr16:16q22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3825
Count of miRNA genes:1036
Interacting mature miRNAs:1260
Transcripts:ENST00000264012, ENST00000429102, ENST00000542274, ENST00000565453, ENST00000566808, ENST00000567674, ENST00000568292, ENST00000569036, ENST00000569080, ENST00000569117, ENST00000581171
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-146481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,712,870 - 68,713,148UniSTSGRCh37
Build 361667,270,371 - 67,270,649RGDNCBI36
Celera1653,222,242 - 53,222,520RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,585,901 - 54,586,179UniSTS
TNG Radiation Hybrid Map1629760.0UniSTS
D16S3206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,732,385 - 68,732,558UniSTSGRCh37
Build 361667,289,886 - 67,290,059RGDNCBI36
Celera1653,241,714 - 53,241,887RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,605,344 - 54,605,517UniSTS
SHGC-61141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,732,462 - 68,732,587UniSTSGRCh37
Build 361667,289,963 - 67,290,088RGDNCBI36
Celera1653,241,791 - 53,241,916RGD
Cytogenetic Map16q22.1UniSTS
HuRef1654,605,421 - 54,605,546UniSTS
GeneMap99-GB4 RH Map16411.27UniSTS
NCBI RH Map16527.1UniSTS
CDH3_526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371668,732,227 - 68,732,996UniSTSGRCh37
Build 361667,289,728 - 67,290,497RGDNCBI36
Celera1653,241,556 - 53,242,325RGD
HuRef1654,605,186 - 54,605,955UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 166 7 93 118 127 14 1359 14 61 85 830 242 115 74 589 2
Low 636 227 945 85 401 31 972 185 3265 212 596 1260 56 443 784 2
Below cutoff 1628 2562 582 316 1033 316 1946 1868 384 117 30 103 2 1 683 1340 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI149268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW339148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ945506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU543746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA489015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA489338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA489357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN365479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS174724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA885907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA886341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA886775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA887209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA910254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB234906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB243606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB254221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB257194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB264115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB276735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB311546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB313836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB318830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB359895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB819630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB820064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X95824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264012   ⟹   ENSP00000264012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,645,310 - 68,700,292 (+)Ensembl
RefSeq Acc Id: ENST00000429102   ⟹   ENSP00000398485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,644,993 - 68,699,036 (+)Ensembl
RefSeq Acc Id: ENST00000542274   ⟹   ENSP00000464021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,645,301 - 68,698,692 (+)Ensembl
RefSeq Acc Id: ENST00000565453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,636,189 - 68,645,318 (+)Ensembl
RefSeq Acc Id: ENST00000566808   ⟹   ENSP00000462111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,645,637 - 68,679,812 (+)Ensembl
RefSeq Acc Id: ENST00000567674   ⟹   ENSP00000463267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,687,620 - 68,698,472 (+)Ensembl
RefSeq Acc Id: ENST00000568292   ⟹   ENSP00000463364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,691,846 - 68,696,134 (+)Ensembl
RefSeq Acc Id: ENST00000569036   ⟹   ENSP00000464058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,678,267 - 68,682,392 (+)Ensembl
RefSeq Acc Id: ENST00000569080   ⟹   ENSP00000463415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,695,825 - 68,727,468 (+)Ensembl
RefSeq Acc Id: ENST00000569117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1668,696,144 - 68,696,923 (+)Ensembl
RefSeq Acc Id: NM_001317195   ⟹   NP_001304124
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,699,039 (+)NCBI
CHM1_11670,086,950 - 70,141,070 (+)NCBI
T2T-CHM13v2.01674,441,601 - 74,495,255 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001317196   ⟹   NP_001304125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,700,292 (+)NCBI
CHM1_11670,086,950 - 70,141,070 (+)NCBI
T2T-CHM13v2.01674,441,601 - 74,496,509 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001793   ⟹   NP_001784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,700,292 (+)NCBI
GRCh371668,678,151 - 68,732,959 (+)NCBI
Build 361667,236,277 - 67,290,443 (+)NCBI Archive
HuRef1654,551,120 - 54,605,916 (+)ENTREZGENE
CHM1_11670,086,950 - 70,141,070 (+)NCBI
T2T-CHM13v2.01674,441,601 - 74,496,509 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522800   ⟹   XP_011521102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,728,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433450   ⟹   XP_047289406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,733,771 (+)NCBI
RefSeq Acc Id: XM_054379317   ⟹   XP_054235292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,441,601 - 74,524,323 (+)NCBI
RefSeq Acc Id: XM_054379318   ⟹   XP_054235293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,441,601 - 74,531,453 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001304124 (Get FASTA)   NCBI Sequence Viewer  
  NP_001304125 (Get FASTA)   NCBI Sequence Viewer  
  NP_001784 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521102 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289406 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235292 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235293 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14462 (Get FASTA)   NCBI Sequence Viewer  
  AAH41846 (Get FASTA)   NCBI Sequence Viewer  
  BAG35451 (Get FASTA)   NCBI Sequence Viewer  
  BAG59512 (Get FASTA)   NCBI Sequence Viewer  
  CAA45177 (Get FASTA)   NCBI Sequence Viewer  
  CAA65093 (Get FASTA)   NCBI Sequence Viewer  
  CAJ34555 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77686 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77695 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77704 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77713 (Get FASTA)   NCBI Sequence Viewer  
  CCV20012 (Get FASTA)   NCBI Sequence Viewer  
  CDH48192 (Get FASTA)   NCBI Sequence Viewer  
  CDH61614 (Get FASTA)   NCBI Sequence Viewer  
  CDH61668 (Get FASTA)   NCBI Sequence Viewer  
  CDH61687 (Get FASTA)   NCBI Sequence Viewer  
  CDH88985 (Get FASTA)   NCBI Sequence Viewer  
  CDH92523 (Get FASTA)   NCBI Sequence Viewer  
  CDH92537 (Get FASTA)   NCBI Sequence Viewer  
  CDH92548 (Get FASTA)   NCBI Sequence Viewer  
  CDH92795 (Get FASTA)   NCBI Sequence Viewer  
  CDH92892 (Get FASTA)   NCBI Sequence Viewer  
  CDI44667 (Get FASTA)   NCBI Sequence Viewer  
  CDI44676 (Get FASTA)   NCBI Sequence Viewer  
  EAW83237 (Get FASTA)   NCBI Sequence Viewer  
  EAW83238 (Get FASTA)   NCBI Sequence Viewer  
  EAW83239 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000264012
  ENSP00000264012.4
  ENSP00000398485
  ENSP00000398485.2
  ENSP00000462111.1
  ENSP00000463267.1
  ENSP00000463364.1
  ENSP00000463415.1
  ENSP00000464021.1
  ENSP00000464058.1
GenBank Protein P22223 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001784   ⟸   NM_001793
- Peptide Label: isoform 1 preproprotein
- UniProtKB: B2R6F4 (UniProtKB/Swiss-Prot),   Q05DI6 (UniProtKB/Swiss-Prot),   P22223 (UniProtKB/Swiss-Prot),   B4DLF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521102   ⟸   XM_011522800
- Peptide Label: isoform X1
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304124   ⟸   NM_001317195
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304125   ⟸   NM_001317196
- Peptide Label: isoform 3
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000464021   ⟸   ENST00000542274
RefSeq Acc Id: ENSP00000398485   ⟸   ENST00000429102
RefSeq Acc Id: ENSP00000462111   ⟸   ENST00000566808
RefSeq Acc Id: ENSP00000264012   ⟸   ENST00000264012
RefSeq Acc Id: ENSP00000463267   ⟸   ENST00000567674
RefSeq Acc Id: ENSP00000463364   ⟸   ENST00000568292
RefSeq Acc Id: ENSP00000463415   ⟸   ENST00000569080
RefSeq Acc Id: ENSP00000464058   ⟸   ENST00000569036
RefSeq Acc Id: XP_047289406   ⟸   XM_047433450
- Peptide Label: isoform X1
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235293   ⟸   XM_054379318
- Peptide Label: isoform X1
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235292   ⟸   XM_054379317
- Peptide Label: isoform X1
- UniProtKB: B4DLF0 (UniProtKB/TrEMBL)
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22223-F1-model_v2 AlphaFold P22223 1-829 view protein structure

Promoters
RGD ID:7232655
Promoter ID:EPDNEW_H22072
Type:initiation region
Name:CDH3_2
Description:cadherin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22073  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,644,940 - 68,645,000EPDNEW
RGD ID:7232653
Promoter ID:EPDNEW_H22073
Type:initiation region
Name:CDH3_1
Description:cadherin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22072  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381668,645,310 - 68,645,370EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1762 AgrOrtholog
COSMIC CDH3 COSMIC
Ensembl Genes ENSG00000062038 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264012 ENTREZGENE
  ENST00000264012.9 UniProtKB/Swiss-Prot
  ENST00000429102 ENTREZGENE
  ENST00000429102.6 UniProtKB/Swiss-Prot
  ENST00000542274.5 UniProtKB/TrEMBL
  ENST00000566808.2 UniProtKB/TrEMBL
  ENST00000567674.1 UniProtKB/TrEMBL
  ENST00000568292.1 UniProtKB/TrEMBL
  ENST00000569036.2 UniProtKB/TrEMBL
  ENST00000569080.2 UniProtKB/TrEMBL
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000062038 GTEx
HGNC ID HGNC:1762 ENTREZGENE
Human Proteome Map CDH3 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_pro_dom UniProtKB/Swiss-Prot
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1001 UniProtKB/Swiss-Prot
NCBI Gene 1001 ENTREZGENE
OMIM 114021 OMIM
PANTHER CADHERIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26299 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Cadherin_pro UniProtKB/Swiss-Prot
  SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R6F4 ENTREZGENE
  B4DLF0 ENTREZGENE, UniProtKB/TrEMBL
  CADH3_HUMAN UniProtKB/Swiss-Prot
  J3KRQ1_HUMAN UniProtKB/TrEMBL
  J3QKW6_HUMAN UniProtKB/TrEMBL
  J3QL41_HUMAN UniProtKB/TrEMBL
  J3QL75_HUMAN UniProtKB/TrEMBL
  J3QR34_HUMAN UniProtKB/TrEMBL
  J3QR60_HUMAN UniProtKB/TrEMBL
  P22223 ENTREZGENE
  Q05DI6 ENTREZGENE
UniProt Secondary B2R6F4 UniProtKB/Swiss-Prot
  Q05DI6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CDH3  cadherin 3  CDH3  cadherin 3, type 1, P-cadherin (placental)  Symbol and/or name change 5135510 APPROVED