ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)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 | |||
ANKRD11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2416 | 2580 | |
CDH15 | No evidence available | No evidence available |
GRCh38 GRCh37 |
235 | 349 | |
TUBB3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
288 | 354 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
858 | 1052 | |
APRT | - | - |
GRCh38 GRCh37 |
130 | 243 | |
BANP | - | - |
GRCh38 GRCh37 |
28 | 93 | |
CA5A | - | - |
GRCh38 GRCh37 |
178 | 241 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
44 | 142 | |
CDK10 | - | - |
GRCh38 GRCh37 |
83 | 159 | |
CDT1 | - | - |
GRCh38 GRCh37 |
388 | 489 |
There are 259 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 | RCV000052428.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024