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
IL36RN
(HGNC:15561)
 Strong Strong Moderate Strong Moderate Strong
XYLT2
(HGNC:15517)
 Strong Strong Moderate Strong Strong Strong
CBFB
(HGNC:1539)
 Moderate Strong Moderate Weak Strong Strong
LPAR6
(HGNC:15520)
 Strong Strong Moderate Strong Strong Strong
PUS1
(HGNC:15508)
 Strong Strong Moderate Strong Strong Strong
SERPINH1
(HGNC:1546)
 Moderate Strong Moderate Strong Strong Strong
ANKH
(HGNC:15492)
 Strong Moderate Moderate Moderate Strong Strong
XYLT1
(HGNC:15516)
 Strong Strong Moderate Strong Strong Strong
RUNX1T1
(HGNC:1535)
 Moderate Strong Moderate Weak Strong Moderate
GPHN
(HGNC:15465)
 Moderate Moderate Weak Weak Weak Moderate
MICU1
(HGNC:1530)
 Strong Moderate Moderate Strong Strong Strong
GPR101
(HGNC:14963)
 Moderate Weak Weak Weak Moderate Moderate
CASP10
(HGNC:1500)
 Moderate Moderate Moderate Moderate Strong Moderate
POFUT1
(HGNC:14988)
 Strong Moderate Moderate Weak Moderate Strong
CASK
(HGNC:1497)
 Strong Strong Moderate Strong Strong Strong
SNX14
(HGNC:14977)
 Strong Strong Moderate Strong Strong Strong
GTPBP3
(HGNC:14880)
 Moderate Strong Moderate Moderate Strong Strong
NIN
(HGNC:14906)
 Moderate Moderate Moderate Weak Strong Moderate
SNX10
(HGNC:14974)
 Strong Strong Moderate Moderate Strong Strong
PIGT
(HGNC:14938)
 Strong Strong Moderate Strong Strong Strong
Showing 1741–1760 of 2035