ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)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 | |||
SH2B1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
205 | 361 | |
APOBR | - | - |
GRCh38 GRCh37 |
36 | 124 | |
AQP8 | - | - |
GRCh38 GRCh37 |
20 | 52 | |
ARHGAP17 | - | - |
GRCh38 GRCh38 GRCh37 |
46 | 78 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
764 | 963 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 202 | |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 87 | |
C16orf82 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
CACNG3 | - | - |
GRCh38 GRCh37 |
4 | 37 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 495 |
There are 59 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 24, 2021 | RCV001795549.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023