Variants studied for Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

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	not provided	total
18	4	2	1	0	7	24

Gene and significance breakdown #

Total genes and gene combinations: 8

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
TXNL4A	7	3	1	1	5	13
LOC130062794, TXNL4A	7	1	1	0	2	7
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A	2	0	0	0	0	2
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, LOC130062794, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516	1	0	0	0	0	1
ADNP2, ATP9B, CTDP1, GALR1, HSBP1L1, KCNG2, LINC00683, LINC01879, MBP, NFATC1, PARD6G, RBFA, SALL3, SLC66A2, TXNL4A, ZNF236, ZNF516	1	0	0	0	0	1
ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, LOC130062794, NFATC1, PARD6G, RBFA, SLC66A2, TXNL4A	1	0	0	0	0	1
ADNP2, CTDP1, HSBP1L1, KCNG2, LOC130062794, RBFA, SLC66A2, TXNL4A	1	0	0	0	0	1
ADNP2, CTDP1, HSBP1L1, KCNG2, RBFA, SLC66A2, TXNL4A	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	not provided	total
GeneReviews	5	0	0	0	7	12
OMIM	8	0	0	0	0	8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	5	0	0	0	0	5
Fulgent Genetics, Fulgent Genetics	0	1	1	1	0	3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	1	1	0	0	2
Baylor Genetics	0	0	1	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
Revvity Omics, Revvity	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	1	0	0	0	0	1

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