Variants from Institute for Human Genetics, University Medical Center Freiburg

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
228	1	1	0	0	230

Gene and significance breakdown #

Total genes and gene combinations: 13

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
ALOX12B	109	0	0	109
CYP4F22	43	0	0	43
ALOXE3	27	0	0	27
NIPAL4	24	0	0	24
ALOXE3, LOC130060198	8	0	0	8
ALOX12B, LOC130060196	5	0	0	5
SULT2B1	4	0	0	4
ALOXE3, LOC126862485	2	0	0	2
PORCN	1	0	1	2
SERPINA12	2	0	0	2
SYNJ1	2	0	0	2
LOC129995124, NIPAL4	1	0	0	1
MITF	0	1	0	1

Condition and significance breakdown #

Total conditions: 9

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Condition	pathogenic	likely pathogenic	uncertain significance	total
Autosomal recessive congenital ichthyosis 2	117	0	0	117
Autosomal recessive congenital ichthyosis 5	43	0	0	43
Autosomal recessive congenital ichthyosis 3	37	0	0	37
Autosomal recessive congenital ichthyosis 6	25	0	0	25
Early-onset Parkinson disease 20	2	0	0	2
Focal dermal hypoplasia	1	0	1	2
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	2	0	0	2
Autosomal recessive congenital ichthyosis 1	1	0	0	1
Waardenburg syndrome type 2	0	1	0	1

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