Variants from Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro

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
9	7	0	0	0	16

Gene and significance breakdown #

Total genes and gene combinations: 13

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Gene or gene combination	pathogenic	likely pathogenic	total
CDH3	3	0	3
MSH2	0	2	2
ABCC6	1	0	1
ACADVL	0	1	1
ATM, C11orf65	0	1	1
BRCA1	1	0	1
BRCA2	0	1	1
COL2A1	1	0	1
KRT5	0	1	1
PHEX	0	1	1
SLC12A3	1	0	1
SLC34A2	1	0	1
TP53	1	0	1

Condition and significance breakdown #

Total conditions: 12

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Condition	pathogenic	likely pathogenic	total
Congenital hypotrichosis with juvenile macular dystrophy	3	0	3
Familial cancer of breast	0	2	2
Lynch syndrome 1	0	2	2
Achondrogenesis type II	1	0	1
Autosomal recessive inherited pseudoxanthoma elasticum	1	0	1
Breast-ovarian cancer, familial, susceptibility to, 1	1	0	1
Epidermolysis bullosa simplex 2B, generalized intermediate	0	1	1
Familial X-linked hypophosphatemic vitamin D refractory rickets	0	1	1
Familial hypokalemia-hypomagnesemia	1	0	1
Li-Fraumeni syndrome 1	1	0	1
PULMONARY ALVEOLAR MICROLITHIASIS	1	0	1
Very long chain acyl-CoA dehydrogenase deficiency	0	1	1

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