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
P3H1
(HGNC:19316)
 Strong Strong Moderate Strong Strong Strong
ATP6V0A2
(HGNC:18481)
 Strong Strong Moderate Moderate Strong Strong
CHD4
(HGNC:1919)
 Moderate Moderate Moderate Weak Moderate Moderate
CHD3
(HGNC:1918)
 Strong Strong Moderate Moderate Moderate Strong
SASH1
(HGNC:19182)
 Strong Strong Moderate Moderate Moderate Strong
FGD4
(HGNC:19125)
 Strong Strong Moderate Strong Strong Strong
CHD1
(HGNC:1915)
 Moderate Moderate Weak Weak Moderate Moderate
FRAS1
(HGNC:19185)
 Strong Strong Moderate Moderate Strong Strong
ASH1L
(HGNC:19088)
 Moderate Strong Moderate Strong Strong Strong
VPS13A
(HGNC:1908)
 Strong Strong Moderate Strong Moderate Strong
TTBK2
(HGNC:19141)
 Moderate Strong Moderate Moderate Strong Moderate
NPHP4
(HGNC:19104)
 Strong Moderate Moderate Strong Strong Strong
PSAT1
(HGNC:19129)
 Moderate Moderate Moderate Moderate Moderate Moderate
FIP1L1
(HGNC:19124)
 Weak Weak Weak Weak Weak Weak
NALCN
(HGNC:19082)
 Strong Strong Moderate Strong Strong Strong
RIGI
(HGNC:19102)
 Moderate Moderate Moderate Weak Moderate Strong
COQ8B
(HGNC:19041)
 Strong Strong Moderate Strong Strong Strong
RHOBTB2
(HGNC:18756)
 Moderate Moderate Weak Weak Strong Moderate
RIN2
(HGNC:18750)
 Strong Strong Moderate Strong Strong Strong
MAST1
(HGNC:19034)
 Moderate Strong Moderate Strong Strong Moderate
Showing 1581–1600 of 2035