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
NARS2
(HGNC:26274)
 Strong Moderate Moderate Strong Strong Strong
LOXHD1
(HGNC:26521)
 Moderate Strong Moderate Strong Strong Strong
CTC1
(HGNC:26169)
 Strong Moderate Moderate Strong Moderate Strong
SCLT1
(HGNC:26406)
 Moderate Moderate Moderate Moderate Strong Strong
PIEZO2
(HGNC:26270)
 Strong Strong Moderate Strong Strong Strong
TMEM70
(HGNC:26050)
 Strong Strong Moderate Strong Strong Strong
MARVELD2
(HGNC:26401)
 Strong Strong Moderate Strong Strong Strong
PDZD7
(HGNC:26257)
 Moderate Moderate Moderate Strong Moderate Moderate
CCDC40
(HGNC:26090)
 Strong Strong Moderate Strong Strong Strong
NSUN2
(HGNC:25994)
 Strong Strong Moderate Moderate Strong Strong
TTC19
(HGNC:26006)
 Strong Strong Moderate Strong Strong Strong
RETREG1
(HGNC:25964)
 Moderate Strong Moderate Moderate Strong Strong
SRD5A3
(HGNC:25812)
 Strong Strong Moderate Strong Strong Strong
ABRAXAS1
(HGNC:25829)
 Weak Weak Weak Strong Moderate Weak
CLIP2
(HGNC:2586)
 Strong Moderate Weak Weak Moderate Weak
ORAI1
(HGNC:25896)
 Strong Strong Moderate Moderate Moderate Strong
WDR73
(HGNC:25928)
 Strong Strong Moderate Strong Strong Strong
ADK
(HGNC:257)
 Moderate Moderate Moderate Strong Moderate Moderate
DCAF17
(HGNC:25784)
 Strong Strong Moderate Strong Strong Strong
USB1
(HGNC:25792)
 Strong Strong Moderate Strong Moderate Strong
Showing 1321–1340 of 2035