Variants studied for Isolated Pierre-Robin syndrome; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormal esophagus physiology

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
0	1	1	0	0	2

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	likely pathogenic	uncertain significance	total
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, POLR2A, SLC2A4, SLC35G6, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2, ZBTB4	1	0	1
CYBRD1, DLX1, DLX2, DYNC1I2, HAT1, METAP1D, SLC25A12	0	1	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	likely pathogenic	uncertain significance	total
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	1	1	2

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