ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1
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 | |
ACSF3 | - | - |
GRCh38 GRCh37 |
858 | 1052 | |
APRT | - | - |
GRCh38 GRCh37 |
130 | 243 | |
CBFA2T3 | - | - |
GRCh38 GRCh37 |
44 | 142 | |
CDT1 | - | - |
GRCh38 GRCh37 |
388 | 489 | |
CTU2 | - | - |
GRCh38 GRCh37 |
236 | 327 | |
GALNS | - | - |
GRCh38 GRCh37 |
1054 | 1341 | |
HSALR1 | - | - | - | GRCh38 | - | 590 |
LINC00304 | - | - | - | GRCh38 | - | 30 |
There are 105 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053381.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023