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
|
|