ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p11.2(chr16:28814284-29129367)x3
Germline
Classification
(1)
not provided
no classification 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 | 359 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
764 | 960 | |
ATP2A1-AS1 | - | - | - | GRCh38 | - | 97 |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 200 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 492 | |
LAT | - | - |
GRCh38 GRCh37 |
173 | 320 | |
LOC112340393 | - | - | - | GRCh38 | - | 58 |
LOC129390780 | - | - | - | GRCh38 | - | 58 |
LOC129390781 | - | - | - | GRCh38 | - | 56 |
LOC129390782 | - | - | - | GRCh38 | - | 30 |
There are 28 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
not provided (1) |
|
- | RCV001786532.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023