Variants studied for Immunodeficiency

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
3	1	379	226	32	641

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
NFAT5	0	0	371	226	32	629
C8G	0	0	2	0	0	2
CD27	2	0	0	0	0	2
AARS1, AP1G1, ATXN1L, CALB2, CDH1, CDH3, CHST4, CHTF8, CLEC18A, CLEC18C, CMTR2, COG4, COG8, CYB5B, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FCSK, HAS3, HP, HPR, HYDIN, IL34, IST1, LOC400541, MARVELD3, MIR140, MTSS2, NFAT5, NIP7, NOB1, NQO1, PDF, PDPR, PHLPP2, PKD1L3, SF3B3, SNTB2, ST3GAL2, TANGO6, TAT, TERF2, TMED6, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZNF19, ZNF23, ZNF821	0	0	1	0	0	1
AARS1, AP1G1, ATXN1L, CALB2, CHST4, CLEC18A, CLEC18C, CMTR2, COG4, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FCSK, HP, HPR, HYDIN, IL34, IST1, LOC400541, MARVELD3, MIR140, MTSS2, NFAT5, NOB1, NQO1, PDPR, PHLPP2, PKD1L3, SF3B3, ST3GAL2, TAT, TXNL4B, VAC14, WWP2, ZNF19, ZNF23, ZNF821	0	0	1	0	0	1
CCDC8	0	0	1	0	0	1
EFL1	0	0	1	0	0	1
MR1	1	0	0	0	0	1
RAG2	0	1	0	0	0	1
RTEL1, RTEL1-TNFRSF6B	0	0	1	0	0	1
SASH3	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	0	373	226	32	631
NIHR Bioresource Rare Diseases, University of Cambridge	2	0	0	0	0	2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	2	0	0	2
Genomic Medicine Lab, University of California San Francisco	0	0	2	0	0	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Institute of Human Genetics, University of Wuerzburg	0	0	1	0	0	1
Center for Personalized Medicine, Children's Hospital Los Angeles	0	1	0	0	0	1
Rossjohn lab, Monash University	1	0	0	0	0	1

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