Variants from Unité médicale des maladies autoinflammatoires, CHRU Montpellier

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
0	0	0	0	0	638	638

Gene and significance breakdown #

Total genes and gene combinations: 14

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Gene or gene combination	not provided	total
MEFV	101	101
NLRP3	98	98
MVK	91	91
TNFRSF1A	86	86
NOD2	77	77
NCR1, NLRP7	69	69
LOC126862264, MEFV	49	49
NLRP7	41	41
NLRP12	8	8
LPIN2	7	7
IL1RN	4	4
CYLD, NOD2	3	3
PSTPIP1	3	3
KIR3DL1, NLRP7	1	1

Condition and significance breakdown #

Total conditions: 9

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Condition	not provided	total
Familial Mediterranean fever	150	150
Hydatidiform mole, recurrent, 1	111	111
Familial cold autoinflammatory syndrome 1	98	98
Hyperimmunoglobulin D with periodic fever	91	91
TNF receptor-associated periodic fever syndrome (TRAPS)	85	85
Blau syndrome	80	80
not provided	13	13
Majeed syndrome	7	7
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	3	3

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