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
DDHD1
(HGNC:19714)
 Strong Moderate Moderate Moderate Strong Strong
CNKSR2
(HGNC:19701)
 Strong Strong Moderate Strong Strong Strong
COQ4
(HGNC:19693)
 Moderate Moderate Moderate Moderate Moderate Moderate
EIF2AK4
(HGNC:19687)
 Strong Strong Moderate Strong Moderate Strong
NECTIN4
(HGNC:19688)
 Strong Strong Moderate Strong Strong Strong
CHRNG
(HGNC:1967)
 Strong Strong Moderate Strong Strong Strong
CHRNE
(HGNC:1966)
 Weak Moderate Strong Strong Weak Strong
TNNI3K
(HGNC:19661)
 Moderate Moderate Moderate Moderate Strong Moderate
CHRND
(HGNC:1965)
 Moderate Moderate Moderate Moderate Moderate Moderate
CHRNA2
(HGNC:1956)
 Moderate Strong Moderate Weak Strong Moderate
CHN1
(HGNC:1943)
 Strong Strong Moderate Moderate Strong Strong
CHRNA1
(HGNC:1955)
 Moderate Strong Moderate Strong Moderate Strong
CHL1
(HGNC:1939)
 Moderate Moderate Weak Weak Moderate Moderate
CHKB
(HGNC:1938)
 Strong Strong Moderate Strong Strong Strong
ALG12
(HGNC:19358)
 Strong Moderate Moderate Moderate Strong Strong
HYDIN
(HGNC:19368)
 Strong Moderate Moderate Strong Moderate Strong
SIN3A
(HGNC:19353)
 Strong Strong Moderate Moderate Strong Strong
KIF21A
(HGNC:19349)
 Strong Moderate Strong Strong Strong Moderate
SPART
(HGNC:18514)
 Strong Strong Moderate Strong Strong Strong
DOCK6
(HGNC:19189)
 Strong Strong Moderate Moderate Strong Strong
Showing 1561–1580 of 2035