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
SALL4
(HGNC:15924)
 Moderate Moderate Moderate Strong Moderate Moderate
MYH7B
(HGNC:15906)
 Moderate Moderate Moderate Weak Moderate Moderate
ABHD12
(HGNC:15868)
 Strong Strong Moderate Strong Strong Strong
PRPF6
(HGNC:15860)
 Moderate Strong Weak Weak Moderate Moderate
RBCK1
(HGNC:15864)
 Strong Moderate Moderate Strong Strong Strong
HPS4
(HGNC:15844)
 Strong Strong Moderate Strong Strong Strong
CCNC
(HGNC:1581)
 Moderate Moderate Moderate Strong Moderate Weak
OBSCN
(HGNC:15719)
 Moderate Weak Weak Strong Moderate Weak
CCND3
(HGNC:1585)
 Weak Weak Weak Weak Weak Weak
PHIP
(HGNC:15673)
 Weak Weak Moderate Weak Strong Moderate
KLHL7
(HGNC:15646)
 Moderate Moderate Moderate Strong Moderate Strong
ADNP
(HGNC:15766)
 Strong Strong Moderate Strong Strong Strong
ALG9
(HGNC:15672)
 Moderate Moderate Weak Moderate Moderate Strong
LDB3
(HGNC:15710)
 Weak Weak Moderate Strong Weak Moderate
CHCHD10
(HGNC:15559)
 Moderate Moderate Moderate Strong Strong Moderate
PDE4DIP
(HGNC:15580)
 Weak Weak Weak Moderate Weak Weak
NBAS
(HGNC:15625)
 Strong Moderate Moderate Strong Strong Strong
JAM3
(HGNC:15532)
 Strong Strong Moderate Moderate Strong Strong
ARHGEF7
(HGNC:15607)
 Weak Weak Weak Weak Weak Weak
TRIM8
(HGNC:15579)
 Strong Moderate Moderate Moderate Strong Strong
Showing 1721–1740 of 2035