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
SLC34A3
(HGNC:20305)
 Moderate Moderate Moderate Strong Strong Strong
SCARF2
(HGNC:19869)
 Strong Strong Moderate Moderate Strong Strong
NUBPL
(HGNC:20278)
 Moderate Moderate Moderate Weak Strong Strong
B3GLCT
(HGNC:20207)
 Strong Strong Moderate Moderate Strong Strong
CACNA2D4
(HGNC:20202)
 Strong Strong Moderate Weak Strong Strong
POLR1C
(HGNC:20194)
 Moderate Moderate Moderate Strong Strong Moderate
FLVCR2
(HGNC:20105)
 Strong Strong Moderate Weak Strong Strong
SLC35C1
(HGNC:20197)
 Moderate Moderate Moderate Weak Moderate Moderate
HFM1
(HGNC:20193)
 Strong Strong Moderate Weak Moderate Strong
KIAA0586
(HGNC:19960)
 Strong Moderate Moderate Moderate Strong Strong
MYORG
(HGNC:19918)
 Strong Strong Moderate Strong Strong Strong
TTC8
(HGNC:20087)
 Moderate Moderate Moderate Strong Strong Strong
ZNF408
(HGNC:20041)
 Moderate Moderate Moderate Strong Moderate Moderate
POMT2
(HGNC:19743)
 Weak Weak Strong Strong Strong Strong
TTC7A
(HGNC:19750)
 Strong Strong Moderate Moderate Strong Strong
ISCA2
(HGNC:19857)
 Moderate Strong Moderate Strong Strong Strong
ADAMTSL4
(HGNC:19706)
 Strong Strong Moderate Strong Strong Strong
CANT1
(HGNC:19721)
 Strong Strong Moderate Strong Strong Strong
CHST3
(HGNC:1971)
 Strong Strong Moderate Strong Strong Strong
KCNV2
(HGNC:19698)
 Strong Strong Moderate Strong Strong Strong
Showing 1541–1560 of 2035