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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
TMEM106B
(HGNC:22407)
 Moderate Weak Weak Strong Weak Weak
COL10A1
(HGNC:2185)
 Weak Moderate Strong Strong Moderate Moderate
COCH
(HGNC:2180)
 Moderate Moderate Weak Strong Moderate Strong
COL9A2
(HGNC:2218)
 Weak Weak Moderate Strong Weak Moderate
COL4A6
(HGNC:2208)
 Moderate Moderate Moderate Strong Strong Strong
COL9A1
(HGNC:2217)
 Moderate Weak Moderate Moderate Weak Moderate
KCTD7
(HGNC:21957)
 Weak Weak Strong Strong Strong Strong
ANTXR2
(HGNC:21732)
 Moderate Strong Strong Strong Strong Strong
CNTN6
(HGNC:2176)
 Weak Weak Moderate Weak Weak Moderate
LHX4
(HGNC:21734)
 Weak Moderate Weak Strong Strong Strong
IRF2BP2
(HGNC:21729)
 Weak Weak Weak Weak Weak Weak
BRAT1
(HGNC:21701)
 Moderate Moderate Strong Strong Strong Strong
RNF216
(HGNC:21698)
 Moderate Moderate Strong Strong Strong Strong
ZNF462
(HGNC:21684)
 Weak Moderate Strong Weak Strong Strong
OSTM1
(HGNC:21652)
 Weak Moderate Strong Moderate Strong Strong
SATB2
(HGNC:21637)
 Moderate Moderate Strong Strong Strong Strong
CHCHD2
(HGNC:21645)
 Strong Moderate Moderate Strong Weak Moderate
NHLRC1
(HGNC:21576)
 Moderate Moderate Moderate Strong Strong Strong
RFX6
(HGNC:21478)
 Moderate Moderate Strong Strong Weak Moderate
MCM9
(HGNC:21484)
 Moderate Weak Moderate Weak Weak Moderate
Showing 801–820 of 1365