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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
EED
(HGNC:3188)
 Weak Weak Strong Weak Moderate Strong
AFG3L2
(HGNC:315)
 Moderate Weak Moderate Strong Weak Moderate
SAMD12
(HGNC:31750)
 Moderate Weak Weak Moderate Moderate Strong
ECM1
(HGNC:3153)
 Moderate Moderate Strong Strong Strong Strong
ECHS1
(HGNC:3151)
 Moderate Moderate Strong Moderate Strong Strong
TYMP
(HGNC:3148)
 Weak Strong Strong Strong Strong Strong
ECEL1
(HGNC:3147)
 Weak Moderate Strong Moderate Strong Moderate
E2F4
(HGNC:3118)
 Weak Weak Weak Moderate Weak Weak
GREB1L
(HGNC:31042)
 Weak Weak Weak Strong Moderate Strong
SECISBP2
(HGNC:30972)
 Weak Moderate Strong Strong Strong Strong
ALG13
(HGNC:30881)
 Strong Weak Moderate Strong Strong Moderate
LINS1
(HGNC:30922)
 Weak Moderate Strong Strong Strong Strong
HUWE1
(HGNC:30892)
 Weak Moderate Strong Weak Strong Moderate
POC1B
(HGNC:30836)
 Moderate Weak Strong Strong Strong Strong
YY1AP1
(HGNC:30935)
 Weak Moderate Strong Weak Strong Strong
EFTUD2
(HGNC:30858)
 Strong Moderate Strong Strong Strong Strong
PNPLA2
(HGNC:30802)
 Weak Weak Moderate Strong Strong Strong
TUBB2B
(HGNC:30829)
 Weak Weak Strong Weak Weak Moderate
TRAPPC9
(HGNC:30832)
 Weak Moderate Strong Strong Strong Strong
TARS2
(HGNC:30740)
 Moderate Moderate Strong Moderate Strong Strong
Showing 481–500 of 1365