ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q25.3(chr17:77641336-79465235)
Germline
Classification
(1)
Uncertain significance
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 | |||
CARD14 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
717 | 1170 | |
AATK | - | - |
GRCh38 GRCh37 |
123 | 144 | |
BAHCC1 | - | - |
GRCh38 GRCh38 GRCh37 |
14 | 34 | |
BAIAP2 | - | - |
GRCh38 GRCh37 |
46 | 67 | |
CBX2 | - | - |
GRCh38 GRCh37 |
112 | 139 | |
CBX4 | - | - |
GRCh38 GRCh37 |
34 | 54 | |
CBX8 | - | - |
GRCh38 GRCh37 |
14 | 34 | |
CCDC40 | - | - |
GRCh38 GRCh38 GRCh37 |
946 | 988 | |
CEP131 | - | - |
GRCh38 GRCh37 |
106 | 125 | |
CHMP6 | - | - |
GRCh38 GRCh37 |
17 | 38 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002052607.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023