ClinVar Miner

Variants studied for esophageal disorder

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
33 254 94 15 4 397

Gene and significance breakdown #

Total genes and gene combinations: 84
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TP53 4 163 0 1 0 167
TGFBR2 5 2 38 7 0 52
WWOX 4 1 11 2 2 19
PIK3CA 0 14 0 0 0 14
CTNNB1, LOC126806658 0 12 0 0 0 12
FBXW7 0 10 0 0 0 10
BRCA2 4 0 4 1 0 9
SMAD4 0 9 0 0 0 9
DCC 1 0 0 3 1 5
​intergenic 3 0 0 0 0 3
ASCC1 2 0 1 0 0 3
ERBB2 0 3 0 0 0 3
FGFR2 0 3 0 0 0 3
HRAS, LRRC56 0 3 0 0 0 3
MSR1 1 0 2 0 0 3
MYC 0 3 0 0 0 3
RHOA 0 3 0 0 0 3
RNF6 3 0 0 0 0 3
TENT5A 0 1 2 0 0 3
EGFR 0 2 0 0 0 2
EP300 0 2 0 0 0 2
LZTS1 2 0 0 0 0 2
MAF, WWOX 0 0 1 1 1 2
SCLT1 0 0 2 0 0 2
ADD1 0 1 0 0 0 1
ALDH1A3, ASB7, CERS3, LINS1, LRRK1 0 0 1 0 0 1
AMBRA1 0 0 1 0 0 1
AMER3 0 1 0 0 0 1
AP1G2 0 1 0 0 0 1
APBA2, ATP10A, CYFIP1, ENTREP2, GABRA5, GABRB3, GABRG3, GOLGA6L1, GOLGA6L2, GOLGA8M, HERC2, IPW, MAGEL2, MKRN3, NDN, NIPA1, NIPA2, NPAP1, NSMCE3, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, TJP1, TUBGCP5, UBE3A 1 0 0 0 0 1
APC2, LOC130062955 0 1 0 0 0 1
ATP1A3 0 0 1 0 0 1
ATP6V0A1 0 0 1 0 0 1
BRIP1 1 0 0 0 0 1
C2CD4A 0 0 1 0 0 1
CACNA1C 0 0 1 0 0 1
CDC27 0 0 1 0 0 1
CDKN2A 0 1 0 0 0 1
CELSR2 0 1 0 0 0 1
CMIP 0 0 1 0 0 1
CTHRC1 1 0 0 0 0 1
DISP1 0 0 1 0 0 1
DLEC1 0 0 1 0 0 1
DROSHA 0 0 1 0 0 1
DSCAM 0 0 1 0 0 1
DST 0 0 1 0 0 1
EFTUD2 1 0 0 0 0 1
GABRG2 0 0 1 0 0 1
GART 0 1 0 0 0 1
GLS 0 1 0 0 0 1
GTF3C1 0 1 0 0 0 1
IGSF3 0 0 1 0 0 1
INSR 0 0 1 0 0 1
IRF8 0 1 0 0 0 1
ITGB1 0 0 1 0 0 1
ITSN1 0 1 0 0 0 1
KCNA6 0 0 1 0 0 1
KCNN3 0 0 1 0 0 1
KLHL17 0 1 0 0 0 1
KRAS 0 1 0 0 0 1
LOC101928335, MID2 0 0 1 0 0 1
LOC126807401, PLK2 0 0 1 0 0 1
LOC126860794, NOTCH1 0 0 1 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 1
LURAP1L 0 1 0 0 0 1
NAGS 0 0 1 0 0 1
PALB2 0 0 1 0 0 1
PCDH1 0 1 0 0 0 1
PDE4D 0 0 1 0 0 1
PIK3C2G 0 1 0 0 0 1
POLR2B 0 1 0 0 0 1
PTPN14 0 1 0 0 0 1
RAB3GAP2 0 1 0 0 0 1
RPGR 0 0 1 0 0 1
SIPA1 0 0 1 0 0 1
SMAD6 0 1 0 0 0 1
STAT5A 0 0 1 0 0 1
TCF4 0 0 1 0 0 1
TECPR1 0 1 0 0 0 1
TENM2 0 0 1 0 0 1
TERT 0 0 1 0 0 1
TLR9 0 1 0 0 0 1
WDFY3 0 1 0 0 0 1
WDR13 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Database of Curated Mutations (DoCM) 0 229 0 0 0 229
Fulgent Genetics, Fulgent Genetics 8 0 47 11 2 68
Clinical Genetics, Erasmus University Medical Center 0 1 30 0 0 31
Shen Lab, Columbia University Medical Center 1 21 0 0 0 22
OMIM 11 0 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 1 0 6
Mendelics 5 0 0 0 0 5
Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo 4 0 0 1 0 5
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 3 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 3 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 2
Clinical Genetics Research Group, Karolinska Institutet 1 0 1 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
Baylor Genetics 0 0 1 0 0 1
Revvity Omics, Revvity 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
3DMed Clinical Laboratory Inc 0 0 1 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 1

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