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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
TTBK2
(HGNC:19141)
 Weak Moderate Moderate Moderate Strong Moderate
NPHP4
(HGNC:19104)
 Weak Weak Strong Strong Strong Strong
PSAT1
(HGNC:19129)
 Weak Weak Moderate Weak Moderate Strong
FIP1L1
(HGNC:19124)
 Strong Moderate Moderate Strong Strong Strong
NALCN
(HGNC:19082)
 Moderate Moderate Strong Strong Weak Moderate
RIGI
(HGNC:19102)
 Weak Weak Weak Weak Moderate Moderate
COQ8B
(HGNC:19041)
 Moderate Moderate Moderate Strong Strong Strong
RHOBTB2
(HGNC:18756)
 Moderate Weak Strong Weak Strong Moderate
RIN2
(HGNC:18750)
 Moderate Moderate Strong Strong Strong Strong
MAST1
(HGNC:19034)
 Weak Weak Strong Strong Strong Moderate
RTTN
(HGNC:18654)
 Moderate Weak Strong Strong Strong Strong
GBA2
(HGNC:18986)
 Weak Weak Moderate Moderate Strong Strong
SLURP1
(HGNC:18746)
 Moderate Weak Strong Strong Moderate Moderate
NAA10
(HGNC:18704)
 Moderate Weak Moderate Moderate Strong Strong
CREB3L1
(HGNC:18856)
 Weak Weak Moderate Weak Weak Strong
MMAA
(HGNC:18871)
 Weak Moderate Weak Strong Strong Strong
POGZ
(HGNC:18801)
 Moderate Moderate Strong Strong Strong Strong
RNPC3
(HGNC:18666)
 Weak Moderate Strong Moderate Strong Strong
HPS6
(HGNC:18817)
 Moderate Moderate Strong Moderate Strong Strong
CDK5RAP2
(HGNC:18672)
 Weak Moderate Strong Strong Strong Strong
Showing 921–940 of 1365