Table 2.

Evaluation of variants reported or predicted to have strong phenotype effects

Variant (heterozygous unless otherwise noted)	Predicted phenotype	Allele frequency (%)	Prioritization score	Evidence assessment in GET-Evidence	Clinical importance assessment in GET-Evidence
SERPINA1-E366K/SERPINA1-E288V (compound het)	Moderate α-1 antitrypsin deficiency	1.2 and 3.0	5	Well-established/well-established	High/low
WFS1-C426Y	Familial depression	0.1	5	Uncertain	Moderate
FLG-S761fs	Palmar hyperlinearity and keratosis pilaris (ichthyosis vulgaris in recessive manner)	Unknown	4	Uncertain	Moderate (for ichthyosis vulgaris)
PKD1-R4276W	Autosomal dominant polycystic kidney disease	0.2	4	Uncertain	High
MYL2-A13T	Hypertrophic cardiomyopathy	0.02	5	Uncertain	High
SCN5A-G615E	Long-QT Syndrome	0.03	4	Uncertain	High
PKD2-S804N	Autosomal dominant polycystic kidney disease	0.3	5	Uncertain	High
SLC9A3R1-R153Q	Kidney stones	0.3	4	Uncertain	Moderate
RHO-G51A	Autosomal dominant retinitis pigmentosa	0.2	4	Uncertain	Moderate
EVC-R443Q	Ellis-van Creveld syndrome	7.9	3	Reevaluated as benign	Reevaluated as benign

Additional data regarding these variants, including PGP participant identifiers and Pubmed identifiers for related literature, are available in SI Appendix, Table S4.