Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.

Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
NDRG1
(HGNC:7679)
Strong Strong Strong Strong Strong Strong
NCOR1
(HGNC:7672)
Moderate Weak Strong Weak Weak Moderate
NCOA3
(HGNC:7670)
Weak Moderate Strong Weak Strong Strong
NCOA2
(HGNC:7669)
Weak Weak Weak Weak Weak Moderate
NAGLU
(HGNC:7632)
Weak Moderate Moderate Strong Weak Moderate
NAGA
(HGNC:7631)
Moderate Weak Weak Strong Strong Strong
NAB2
(HGNC:7627)
Strong Moderate Weak Moderate Strong Strong
MYT1L
(HGNC:7623)
Weak Weak Weak Moderate Strong Strong
MYOG
(HGNC:7612)
Moderate Weak Moderate Weak Strong Strong
MYOD1
(HGNC:7611)
Moderate Weak Strong Weak Weak Weak
MYO6
(HGNC:7605)
Moderate Strong Strong Strong Moderate Moderate
MYO5B
(HGNC:7603)
Weak Moderate Weak Strong Strong Strong
MYO5A
(HGNC:7602)
Weak Weak Moderate Strong Weak Moderate
MYO3A
(HGNC:7601)
Moderate Moderate Strong Strong Weak Strong
MYO1E
(HGNC:7599)
Weak Weak Weak Moderate Strong Strong
MYH3
(HGNC:7573)
Moderate Weak Moderate Strong Weak Moderate
ASPH
(HGNC:757)
Moderate Strong Strong Strong Moderate Strong
MYCL
(HGNC:7555)
Weak Weak Weak Weak Weak Moderate
TRIM37
(HGNC:7523)
Weak Moderate Strong Strong Strong Strong
MYBPC1
(HGNC:7549)
Weak Moderate Moderate Weak Weak Weak
Showing 161–180 of 1365