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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
IQSEC2
(HGNC:29059)
 Moderate Moderate Strong Strong Strong —
IFT140
(HGNC:29077)
 Weak Weak Moderate Weak Weak Strong
DLL1
(HGNC:2908)
 Weak Weak Weak Weak Weak Moderate
DLK1
(HGNC:2907)
 Weak Weak Moderate Strong Weak Strong
SPECC1L
(HGNC:29022)
 Weak Weak Moderate Moderate Weak Moderate
DSTYK
(HGNC:29043)
 Weak Weak Weak Moderate Weak Weak
SZT2
(HGNC:29040)
 Moderate Moderate Strong Moderate Strong Strong
DLD
(HGNC:2898)
 Moderate Weak Moderate Strong Strong Strong
DLAT
(HGNC:2896)
 Weak Weak Moderate Weak Strong Strong
WASHC5
(HGNC:28984)
 Weak Moderate Strong Strong Weak Moderate
CYB5R3
(HGNC:2873)
 Weak Moderate Strong Strong Strong Strong
LEMD3
(HGNC:28887)
 Weak Weak Moderate Strong Strong Strong
EMC1
(HGNC:28957)
 Weak Moderate Strong Strong Moderate Strong
NUP93
(HGNC:28958)
 Moderate Moderate Strong Weak Strong Strong
GPD1L
(HGNC:28956)
 Weak Moderate Weak Strong Strong Moderate
DNAJC12
(HGNC:28908)
 Weak Strong Strong Strong Strong Strong
IQCB1
(HGNC:28949)
 Moderate Moderate Strong Moderate Strong Strong
DHH
(HGNC:2865)
 Moderate Moderate Strong Moderate Strong Strong
PPA2
(HGNC:28883)
 Moderate Strong Moderate Moderate Strong Strong
MAGT1
(HGNC:28880)
 Moderate Moderate Strong Strong Strong Strong
Showing 581–600 of 1365