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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
HINT1
(HGNC:4912)
 Moderate Moderate Strong Strong Strong Strong
HIBCH
(HGNC:4908)
 Moderate Moderate Strong Strong Strong Strong
HERC2
(HGNC:4868)
 Weak Weak Weak Moderate Weak Moderate
HGD
(HGNC:4892)
 Moderate Moderate Strong Moderate Strong Strong
HCN1
(HGNC:4845)
 Moderate Weak Strong Moderate Strong Moderate
HCCS
(HGNC:4837)
 Moderate Weak Strong Moderate Strong Strong
HARS1
(HGNC:4816)
 Moderate Weak Moderate Weak Weak Moderate
HBZ
(HGNC:4835)
 Weak Moderate Weak Strong Strong Moderate
HSD17B10
(HGNC:4800)
 Moderate Moderate Strong Strong Strong Strong
HAND2
(HGNC:4808)
 Weak Weak Moderate Weak Moderate Moderate
HADHB
(HGNC:4803)
 Moderate Weak Strong Strong Strong Strong
AMT
(HGNC:473)
 Weak Moderate Strong Strong Strong Strong
H3C2
(HGNC:4776)
 Weak Moderate Moderate Strong Strong Strong
GYS1
(HGNC:4706)
 Weak Weak Moderate Weak Strong Strong
H1-4
(HGNC:4718)
 Strong Moderate Strong Moderate Strong Strong
GYS2
(HGNC:4707)
 Moderate Moderate Moderate Strong Strong Strong
GYPA
(HGNC:4702)
 Weak Weak Moderate Strong Moderate Strong
AMPD2
(HGNC:469)
 Weak Moderate Strong Moderate Strong Strong
AMPD1
(HGNC:468)
 Moderate Weak Weak Strong Strong Strong
GYG1
(HGNC:4699)
 Moderate Moderate Strong Weak Strong Strong
Showing 341–360 of 1365