Variants studied for combined immunodeficiency due to OX40 deficiency

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
1	0	152	111	20	282

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	uncertain significance	likely benign	benign	total
TNFRSF4	1	148	111	20	278
B3GALT6, SDF4, TNFRSF4	0	2	0	0	2
ACAP3, ACTRT2, AGRN, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73	0	1	0	0	1
LOC129929100, TNFRSF4	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 5

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Submitter	pathogenic	uncertain significance	likely benign	benign	total
Invitae	0	151	110	19	280
Fulgent Genetics, Fulgent Genetics	0	1	1	0	2
Genome-Nilou Lab	0	0	0	2	2
OMIM	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	1	0	0	1

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