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
FBXO11
(HGNC:13590)
 Moderate Moderate Moderate Weak Strong Moderate
IFT122
(HGNC:13556)
 Moderate Moderate Moderate Moderate Strong Moderate
ATP8A2
(HGNC:13533)
 Moderate Strong Moderate Strong Strong Strong
C7
(HGNC:1346)
 Strong Strong Moderate Strong Strong Strong
MCOLN1
(HGNC:13356)
 Strong Strong Moderate Strong Strong Strong
SLC2A10
(HGNC:13444)
 Strong Strong Moderate Strong Strong Strong
ARL6
(HGNC:13210)
 Moderate Moderate Moderate Moderate Strong Moderate
ROBO3
(HGNC:13433)
 Strong Strong Moderate Strong Strong Strong
ACTB
(HGNC:132)
 Moderate Moderate Strong Moderate Strong Moderate
NSDHL
(HGNC:13398)
 Strong Strong Strong Strong Strong Strong
PRUNE1
(HGNC:13420)
 Strong Strong Moderate Strong Strong Strong
PCLO
(HGNC:13406)
 Moderate Moderate Weak Moderate Moderate Moderate
LPIN1
(HGNC:13345)
 Strong Strong Moderate Strong Moderate Strong
AICDA
(HGNC:13203)
 Strong Strong Moderate Strong Moderate Strong
ADAMTS10
(HGNC:13201)
 Strong Strong Moderate Moderate Strong Strong
CNBP
(HGNC:13164)
 Strong Strong Moderate Strong Strong Strong
ZP1
(HGNC:13187)
 Strong Strong Moderate Strong Moderate Strong
SCAPER
(HGNC:13081)
 Strong Strong Moderate Moderate Strong Strong
ZBTB18
(HGNC:13030)
 Moderate Moderate Moderate Moderate Strong Moderate
ZMYM2
(HGNC:12989)
 Weak Weak Weak Weak Moderate Moderate
Showing 1821–1840 of 2035