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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
MEGF10
(HGNC:29634)
 Moderate Moderate Strong Weak Strong Strong
IARS2
(HGNC:29685)
 Moderate Weak Moderate Strong Strong Moderate
LIPT1
(HGNC:29569)
 Weak Moderate Strong Weak Strong Strong
MTFMT
(HGNC:29666)
 Strong Weak Strong Weak Strong Strong
NEXMIF
(HGNC:29433)
 Moderate Moderate Strong Weak Strong Strong
PLPPR2
(HGNC:29566)
 Strong Moderate Strong Strong Strong Strong
DNASE1L3
(HGNC:2959)
 Strong Weak Moderate Strong Weak Strong
CCBE1
(HGNC:29426)
 Moderate Moderate Strong Strong Strong Strong
C12orf57
(HGNC:29521)
 Moderate Moderate Strong Strong Strong Strong
KIDINS220
(HGNC:29508)
 Moderate Weak Strong Strong Weak Moderate
DNAH9
(HGNC:2953)
 Weak Moderate Moderate Moderate Strong Strong
DNAH6
(HGNC:2951)
 Weak Weak Weak Moderate Weak Moderate
EARS2
(HGNC:29419)
 Moderate Moderate Strong Weak Strong Strong
TET1
(HGNC:29484)
 Weak Weak Weak Weak Weak Moderate
GPSM2
(HGNC:29501)
 Moderate Weak Weak Strong Strong Strong
ROGDI
(HGNC:29478)
 Moderate Strong Strong Strong Strong Strong
DNA2
(HGNC:2939)
 Weak Weak Strong Moderate Weak Moderate
ASXL3
(HGNC:29357)
 Moderate Moderate Strong Strong Strong Strong
DNAH1
(HGNC:2940)
 Weak Weak Strong Moderate Strong Strong
MYSM1
(HGNC:29401)
 Moderate Moderate Weak Moderate Strong Strong
Showing 541–560 of 1365