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
ERLIN2
(HGNC:1356)
 Moderate Strong Moderate Strong Moderate Moderate
ATP11C
(HGNC:13554)
 Moderate Moderate Weak Moderate Moderate Moderate
CLIC5
(HGNC:13517)
 Moderate Strong Moderate Strong Strong Moderate
SAMD9L
(HGNC:1349)
 Strong Moderate Moderate Moderate Strong Strong
SAMD9
(HGNC:1348)
 Strong Strong Moderate Strong Moderate Moderate
UBE3B
(HGNC:13478)
 Strong Strong Moderate Strong Strong Strong
NEK8
(HGNC:13387)
 Moderate Moderate Moderate Weak Moderate Moderate
KDM3B
(HGNC:1337)
 Strong Moderate Moderate Strong Strong Strong
MS4A6A
(HGNC:13375)
 Weak Weak Moderate Weak Moderate Weak
LMBR1
(HGNC:13243)
 Strong Strong Moderate Strong Strong Strong
ATP2C1
(HGNC:13211)
 Strong Strong Moderate Strong Strong Strong
ZP3
(HGNC:13189)
 Strong Strong Moderate Moderate Moderate Strong
IKZF2
(HGNC:13177)
 Moderate Moderate Moderate Weak Moderate Moderate
PCGF2
(HGNC:12929)
 Moderate Moderate Weak Weak Moderate Moderate
ZFX
(HGNC:12869)
 Moderate Moderate Moderate Weak Strong Moderate
XPR1
(HGNC:12827)
 Moderate Strong Moderate Moderate Moderate Strong
WNT11
(HGNC:12776)
 Moderate Weak Moderate Weak Moderate Moderate
NSD2
(HGNC:12766)
 Strong Strong Moderate Moderate Strong Strong
FOXN1
(HGNC:12765)
 Strong Moderate Moderate Strong Moderate Strong
VRK2
(HGNC:12719)
 Weak Weak Moderate Weak Moderate Weak
Showing 521–540 of 2035