Variants from ClinGen PAH Variant Curation Expert Panel

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)

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
321	290	172	4	17	804

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PAH	301	273	156	4	17	751
LOC126861615, PAH	20	17	16	0	0	53

Condition and significance breakdown #

Total conditions: 1

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Condition	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Phenylketonuria	321	290	172	4	17	804

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