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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
CHN1
(HGNC:1943)
 Moderate Moderate Weak Strong Strong Strong
CHRNA1
(HGNC:1955)
 Moderate Moderate Moderate Strong Weak Strong
CHL1
(HGNC:1939)
 Weak Weak Weak Moderate Weak Moderate
CHKB
(HGNC:1938)
 Moderate Moderate Strong Strong Strong Strong
ALG12
(HGNC:19358)
 Moderate Weak Strong Weak Strong Strong
HYDIN
(HGNC:19368)
 Moderate Weak Moderate Strong Strong Strong
SIN3A
(HGNC:19353)
 Moderate Weak Strong Weak Strong Moderate
KIF21A
(HGNC:19349)
 Strong Moderate Strong Strong Moderate Strong
SPART
(HGNC:18514)
 Moderate Moderate Moderate Strong Strong Strong
DOCK6
(HGNC:19189)
 Moderate Moderate Strong Weak Strong Strong
P3H1
(HGNC:19316)
 Strong Moderate Strong Strong Strong Strong
ATP6V0A2
(HGNC:18481)
 Moderate Moderate Strong Strong Strong Strong
CHD4
(HGNC:1919)
 Weak Weak Moderate Weak Weak Moderate
CHD3
(HGNC:1918)
 Weak Weak Moderate Moderate Weak Moderate
SASH1
(HGNC:19182)
 Weak Moderate Moderate Moderate Weak Moderate
FGD4
(HGNC:19125)
 Weak Moderate Strong Strong Strong Strong
CHD1
(HGNC:1915)
 Weak Weak Moderate Weak Weak Weak
FRAS1
(HGNC:19185)
 Moderate Moderate Strong Strong Strong Strong
ASH1L
(HGNC:19088)
 Weak Weak Moderate Strong Moderate Strong
VPS13A
(HGNC:1908)
 Moderate Weak Weak Strong Weak Moderate
Showing 901–920 of 1365