ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)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 | |||
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 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 202 | |
C16orf82 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
CACNG3 | - | - |
GRCh38 GRCh37 |
4 | 37 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 495 |
There are 279 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) |
|
Dec 10, 2012 | RCV000140235.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024