ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3
Germline
Classification
(1)
Uncertain significance
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 |
211 | 367 | |
APOBR | - | - |
GRCh38 GRCh37 |
43 | 131 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
770 | 969 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
46 | 204 | |
BOLA2 | - | - |
GRCh38 GRCh37 |
- | 87 | |
BOLA2-SMG1P6 | - | - | - | GRCh38 | - | 29 |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 495 | |
CLN3 | - | - |
GRCh38 GRCh37 |
1118 | 1201 | |
EIF3C | - | - |
GRCh38 GRCh37 |
3 | 107 |
There are 70 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053118.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023