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
SMARCAD1
(HGNC:18398)
 Strong Strong Moderate Moderate Strong Strong
HPSE2
(HGNC:18374)
 Strong Strong Moderate Strong Strong Strong
IMPG2
(HGNC:18362)
 Moderate Strong Moderate Strong Moderate Moderate
IL17RC
(HGNC:18358)
 Moderate Moderate Weak Moderate Moderate Moderate
WDR19
(HGNC:18340)
 Moderate Moderate Moderate Strong Strong Strong
ATP6AP2
(HGNC:18305)
 Strong Moderate Moderate Weak Strong Strong
ALG1
(HGNC:18294)
 Moderate Strong Moderate Strong Strong Strong
SEC61A1
(HGNC:18276)
 Moderate Moderate Weak Moderate Strong Moderate
HHAT
(HGNC:18270)
 Strong Strong Moderate Moderate Strong Strong
ELP2
(HGNC:18248)
 Strong Strong Moderate Moderate Strong Moderate
RCBTB1
(HGNC:18243)
 Moderate Strong Moderate Moderate Moderate Moderate
SOX7
(HGNC:18196)
 Moderate Moderate Moderate Moderate Moderate Moderate
TMCO1
(HGNC:18188)
 Strong Strong Moderate Weak Strong Strong
VPS33A
(HGNC:18179)
 Strong Strong Moderate Moderate Strong Strong
TXNRD2
(HGNC:18155)
 Moderate Moderate Moderate Moderate Moderate Moderate
A4GALT
(HGNC:18149)
 Strong Strong Moderate Moderate Strong Strong
ZNRF3
(HGNC:18126)
 Moderate Weak Weak Weak Moderate Weak
P2RY12
(HGNC:18124)
 Moderate Strong Moderate Weak Moderate Strong
SOX17
(HGNC:18122)
 Moderate Moderate Weak Weak Moderate Moderate
MFRP
(HGNC:18121)
 Strong Strong Moderate Strong Strong Strong
Showing 401–420 of 2035