Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

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Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
AFG2A
(HGNC:18119)
 Moderate Strong Moderate Weak Strong Moderate
TRPV3
(HGNC:18084)
 Strong Strong Moderate Strong Strong Strong
PKD1L1
(HGNC:18053)
 Moderate Strong Moderate Moderate Strong Moderate
CDSN
(HGNC:1802)
 Strong Strong Moderate Strong Strong Strong
NUP160
(HGNC:18017)
 Strong Strong Moderate Weak Strong Strong
TRPM6
(HGNC:17995)
 Strong Strong Moderate Strong Strong Strong
TRPM4
(HGNC:17993)
 Moderate Moderate Moderate Strong Moderate Moderate
TRPM3
(HGNC:17992)
 Moderate Moderate Moderate Weak Moderate Moderate
PSMC3IP
(HGNC:17928)
 Strong Strong Moderate Moderate Strong Strong
AFF4
(HGNC:17869)
 Moderate Strong Moderate Moderate Strong Moderate
AMOTL1
(HGNC:17811)
 Weak Moderate Moderate Weak Strong Moderate
THSD1
(HGNC:17754)
 Moderate Moderate Moderate Weak Moderate Moderate
PMFBP1
(HGNC:17728)
 Strong Strong Moderate Weak Strong Strong
SARS2
(HGNC:17697)
 Moderate Moderate Moderate Moderate Strong Strong
NDE1
(HGNC:17619)
 Strong Strong Moderate Weak Strong Strong
HOMER2
(HGNC:17513)
 Moderate Strong Moderate Moderate Strong Strong
ACVR2A
(HGNC:173)
 Weak Weak Weak Weak Weak Weak
CDC42BPB
(HGNC:1738)
 Weak Weak Moderate Moderate Weak Weak
RXFP2
(HGNC:17318)
 Strong Strong Moderate Weak Strong Strong
ADAMTS18
(HGNC:17110)
 Moderate Strong Moderate Moderate Strong Moderate
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