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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
KLHL7
(HGNC:15646)
 Moderate Weak Moderate Strong Weak Moderate
ADNP
(HGNC:15766)
 Strong Moderate Strong Strong Strong Strong
ALG9
(HGNC:15672)
 Moderate Moderate Weak Moderate Weak Strong
LDB3
(HGNC:15710)
 Weak Weak Moderate Strong Weak Moderate
CHCHD10
(HGNC:15559)
 Moderate Weak Moderate Strong Strong Moderate
PDE4DIP
(HGNC:15580)
 Weak Weak Weak Strong Weak Weak
NBAS
(HGNC:15625)
 Moderate Weak Moderate Strong Strong Strong
JAM3
(HGNC:15532)
 Moderate Moderate Strong Strong Strong Strong
ARHGEF7
(HGNC:15607)
 Weak Moderate Strong Strong Strong Strong
TRIM8
(HGNC:15579)
 Strong Moderate Strong Strong Strong Strong
IL36RN
(HGNC:15561)
 Moderate Strong Moderate Strong Strong Strong
XYLT2
(HGNC:15517)
 Weak Moderate Strong Strong Strong Strong
CBFB
(HGNC:1539)
 Strong Moderate Weak Strong Moderate Strong
LPAR6
(HGNC:15520)
 Moderate Strong Moderate Strong Strong Strong
PUS1
(HGNC:15508)
 Weak Moderate Strong Strong Strong Strong
SERPINH1
(HGNC:1546)
 Weak Moderate Strong Moderate Strong Strong
ANKH
(HGNC:15492)
 Moderate Weak Weak Strong Strong Weak
XYLT1
(HGNC:15516)
 Weak Weak Moderate Strong Strong Strong
RUNX1T1
(HGNC:1535)
 Strong Moderate Weak Moderate Weak Strong
GPHN
(HGNC:15465)
 Weak Weak Strong Strong Weak Weak
Showing 1061–1080 of 1365