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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
MYORG
(HGNC:19918)
 Weak Moderate Moderate Strong Strong Strong
TTC8
(HGNC:20087)
 Weak Moderate Moderate Strong Strong Moderate
ZNF408
(HGNC:20041)
 Weak Weak Moderate Strong Weak Moderate
POMT2
(HGNC:19743)
 Weak Weak Strong Strong Strong Strong
TTC7A
(HGNC:19750)
 Weak Weak Strong Strong Strong Strong
ISCA2
(HGNC:19857)
 Weak Moderate Strong Strong Strong Strong
ADAMTSL4
(HGNC:19706)
 Moderate Strong Weak Strong Strong Strong
CANT1
(HGNC:19721)
 Moderate Weak Strong Strong Strong Strong
CHST3
(HGNC:1971)
 Weak Moderate Moderate Strong Strong Strong
KCNV2
(HGNC:19698)
 Weak Moderate Strong Strong Strong Strong
DDHD1
(HGNC:19714)
 Moderate Weak Moderate Moderate Strong Strong
CNKSR2
(HGNC:19701)
 Moderate Moderate Moderate Strong Strong Strong
COQ4
(HGNC:19693)
 Moderate Weak Moderate Moderate Moderate Strong
EIF2AK4
(HGNC:19687)
 Strong Moderate Moderate Strong Strong Strong
NECTIN4
(HGNC:19688)
 Moderate Moderate Strong Strong Strong Strong
CHRNG
(HGNC:1967)
 Moderate Weak Strong Moderate Moderate Moderate
CHRNE
(HGNC:1966)
 Weak Moderate Strong Strong Weak Strong
TNNI3K
(HGNC:19661)
 Weak Moderate Moderate Moderate Strong Strong
CHRND
(HGNC:1965)
 Weak Moderate Strong Moderate Weak Moderate
CHRNA2
(HGNC:1956)
 Weak Moderate Strong Moderate Strong Moderate
Showing 881–900 of 1365