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
CYB5R3
(HGNC:2873)
 Strong Strong Moderate Strong Strong Strong
LEMD3
(HGNC:28887)
 Strong Strong Moderate Strong Strong Strong
EMC1
(HGNC:28957)
 Moderate Moderate Moderate Moderate Moderate Moderate
NUP93
(HGNC:28958)
 Strong Strong Moderate Strong Strong Strong
GPD1L
(HGNC:28956)
 Moderate Moderate Weak Strong Strong Moderate
DNAJC12
(HGNC:28908)
 Strong Strong Moderate Strong Strong Strong
IQCB1
(HGNC:28949)
 Strong Strong Moderate Strong Strong Strong
DHH
(HGNC:2865)
 Strong Strong Moderate Strong Strong Strong
PPA2
(HGNC:28883)
 Strong Strong Moderate Moderate Strong Strong
MAGT1
(HGNC:28880)
 Strong Moderate Moderate Strong Strong Strong
P4HTM
(HGNC:28858)
 Strong Strong Moderate Moderate Strong Strong
SYCE1
(HGNC:28852)
 Strong Strong Strong Strong Strong Strong
B3GALNT2
(HGNC:28596)
 Strong Moderate Moderate Strong Strong Strong
DHCR24
(HGNC:2859)
 Strong Strong Moderate Moderate Strong Strong
DIAPH1
(HGNC:2876)
 Strong Moderate Moderate Strong Strong Strong
ILDR1
(HGNC:28741)
 Strong Strong Moderate Strong Strong Strong
DIS3L2
(HGNC:28648)
 Strong Moderate Moderate Moderate Moderate Strong
NDUFAF6
(HGNC:28625)
 Strong Strong Moderate Moderate Strong Strong
RICTOR
(HGNC:28611)
 Moderate Weak Weak Weak Moderate Moderate
DGKE
(HGNC:2852)
 Strong Strong Moderate Strong Strong Strong
Showing 1261–1280 of 2035