ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2503 | 2673 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
248 | 367 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
300 | 371 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
879 | 1080 | |
APRT | - | - |
GRCh38 GRCh37 |
131 | 250 | |
BANP | - | - |
GRCh38 GRCh37 |
31 | 99 | |
CA5A | - | - |
GRCh38 GRCh37 |
184 | 251 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
54 | 158 | |
CDK10 | - | - |
GRCh38 GRCh37 |
85 | 166 | |
CDT1 | - | - |
GRCh38 GRCh37 |
394 | 500 |
There are 260 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
|
Likely pathogenic (1) |
|
Feb 14, 2012 | RCV000138161.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024