ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
KAT6A | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1421 | 1475 | |
ADAM2 | - | - |
GRCh38 GRCh38 GRCh37 |
38 | 96 | |
ANK1 | - | - |
GRCh38 GRCh37 |
958 | 1115 | |
AP3M2 | - | - |
GRCh38 GRCh37 |
17 | 69 | |
CEBPD | - | - |
GRCh38 GRCh37 |
27 | 65 | |
CHRNA6 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
CHRNB3 | - | - |
GRCh38 GRCh37 |
27 | 85 | |
CLXN | - | - |
GRCh38 GRCh37 |
10 | 37 | |
DKK4 | - | - |
GRCh38 GRCh37 |
18 | 71 | |
FNTA | - | - |
GRCh38 GRCh37 |
16 | 87 |
There are 176 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053649.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023