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.

Back to Open Access Summaries
Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us

Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
ASL
(HGNC:746)
 Moderate Weak Moderate Strong Strong Strong
MTMR2
(HGNC:7450)
 Weak Moderate Strong Strong Strong Strong
MSX2
(HGNC:7392)
 Moderate Weak Moderate Moderate Moderate Strong
MSN
(HGNC:7373)
 Moderate Moderate Strong Weak Moderate Strong
MRC1
(HGNC:7228)
 Weak Moderate Weak Strong Weak Strong
SEPTIN9
(HGNC:7323)
 Moderate Weak Moderate Strong Moderate Weak
MPI
(HGNC:7216)
 Moderate Moderate Weak Weak Strong Strong
MPP3
(HGNC:7221)
 Weak Moderate Moderate Weak Strong Strong
ARSL
(HGNC:719)
 Moderate Moderate Weak Strong Strong Strong
MOCS2
(HGNC:7193)
 Weak Moderate Strong Strong Strong Strong
MOCS1
(HGNC:7190)
 Weak Moderate Strong Strong Strong Strong
MMP13
(HGNC:7159)
 Moderate Moderate Strong Strong Weak Moderate
TRPM1
(HGNC:7146)
 Weak Weak Strong Weak Strong Strong
MLYCD
(HGNC:7150)
 Weak Moderate Strong Moderate Strong Strong
MKS1
(HGNC:7121)
 Weak Weak Strong Strong Strong Strong
MIP
(HGNC:7103)
 Weak Moderate Strong Moderate Strong Strong
MID1
(HGNC:7095)
 Weak Moderate Weak Weak Strong Strong
MGP
(HGNC:7060)
 Weak Moderate Strong Strong Strong Strong
MCM3AP
(HGNC:6946)
 Weak Weak Moderate Weak Weak Moderate
MEIS2
(HGNC:7001)
 Weak Moderate Strong Moderate Strong Strong
Showing 181–200 of 1365