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
HADHB
(HGNC:4803)
 Moderate Moderate Moderate Strong Strong Strong
AMT
(HGNC:473)
 Strong Strong Moderate Moderate Strong Strong
H3C2
(HGNC:4776)
 Weak Weak Weak Weak Weak Weak
GYS1
(HGNC:4706)
 Moderate Moderate Moderate Moderate Strong Strong
H1-4
(HGNC:4718)
 Strong Strong Moderate Weak Strong Strong
GYS2
(HGNC:4707)
 Strong Strong Moderate Strong Strong Strong
GYPA
(HGNC:4702)
 Moderate Moderate Weak Moderate Moderate Moderate
AMPD2
(HGNC:469)
 Strong Strong Moderate Moderate Strong Strong
AMPD1
(HGNC:468)
 Strong Moderate Moderate Moderate Strong Strong
GYG1
(HGNC:4699)
 Strong Strong Moderate Weak Strong Strong
GUCA1A
(HGNC:4678)
 Strong Strong Moderate Moderate Strong Strong
AMHR2
(HGNC:465)
 Strong Strong Moderate Strong Strong Strong
GTF2IRD1
(HGNC:4661)
 Moderate Moderate Moderate Weak Weak Moderate
GSS
(HGNC:4624)
 Moderate Strong Moderate Strong Strong Strong
GSN
(HGNC:4620)
 Strong Strong Moderate Strong Strong Strong
AMELX
(HGNC:461)
 Strong Strong Moderate Moderate Strong Strong
GRM1
(HGNC:4593)
 Moderate Strong Moderate Strong Moderate Strong
GRID2
(HGNC:4576)
 Strong Moderate Moderate Strong Moderate Strong
GRIA3
(HGNC:4573)
 Strong Moderate Moderate Moderate Moderate Strong
GRHPR
(HGNC:4570)
 Weak Moderate Moderate Strong Strong Strong
Showing 1021–1040 of 2035