Variants studied for esophageal atresia/tracheoesophageal fistula

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
9	22	37	0	0	68

Gene and significance breakdown #

Total genes and gene combinations: 59

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
BRCA2	4	0	2	6
TENT5A	0	1	2	3
intergenic	2	0	0	2
SCLT1	0	0	2	2
ADD1	0	1	0	1
ALDH1A3, ASB7, CERS3, LINS1, LRRK1	0	0	1	1
AMBRA1	0	0	1	1
AMER3	0	1	0	1
AP1G2	0	1	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	1
APC2, LOC130062955	0	1	0	1
ATP1A3	0	0	1	1
ATP6V0A1	0	0	1	1
BRIP1	1	0	0	1
C2CD4A	0	0	1	1
CACNA1C	0	0	1	1
CDC27	0	0	1	1
CELSR2	0	1	0	1
CMIP	0	0	1	1
DISP1	0	0	1	1
DROSHA	0	0	1	1
DSCAM	0	0	1	1
DST	0	0	1	1
EFTUD2	1	0	0	1
GABRG2	0	0	1	1
GART	0	1	0	1
GLS	0	1	0	1
GTF3C1	0	1	0	1
IGSF3	0	0	1	1
INSR	0	0	1	1
IRF8	0	1	0	1
ITGB1	0	0	1	1
ITSN1	0	1	0	1
KCNA6	0	0	1	1
KCNN3	0	0	1	1
KLHL17	0	1	0	1
LOC101928335, MID2	0	0	1	1
LOC126807401, PLK2	0	0	1	1
LOC126860794, NOTCH1	0	0	1	1
LURAP1L	0	1	0	1
NAGS	0	0	1	1
PALB2	0	0	1	1
PCDH1	0	1	0	1
PDE4D	0	0	1	1
PIK3C2G	0	1	0	1
POLR2B	0	1	0	1
PTPN14	0	1	0	1
RAB3GAP2	0	1	0	1
RPGR	0	0	1	1
SIPA1	0	0	1	1
SMAD6	0	1	0	1
STAT5A	0	0	1	1
TCF4	0	0	1	1
TECPR1	0	1	0	1
TENM2	0	0	1	1
TERT	0	0	1	1
TLR9	0	1	0	1
WDFY3	0	1	0	1
WDR13	0	0	1	1

Submitter and significance breakdown #

Total submitters: 6

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
Clinical Genetics, Erasmus University Medical Center	0	1	30	31
Shen Lab, Columbia University Medical Center	1	21	0	22
Fulgent Genetics, Fulgent Genetics	5	0	3	8
Daryl Scott Lab, Baylor College of Medicine	0	0	3	3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital	2	0	0	2
Clinical Genetics Research Group, Karolinska Institutet	1	0	1	2

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