ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:28490480-29379768)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 |
211 | 367 | |
APOBR | - | - |
GRCh38 GRCh37 |
43 | 131 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
770 | 969 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
46 | 204 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 495 | |
CLN3 | - | - |
GRCh38 GRCh37 |
1118 | 1201 | |
EIF3C | - | - |
GRCh38 GRCh37 |
3 | 107 | |
IL27 | - | - |
GRCh38 GRCh37 |
17 | 105 | |
LAT | - | - |
GRCh38 GRCh37 |
175 | 325 | |
NFATC2IP | - | - |
GRCh38 GRCh37 |
18 | 171 |
There are 7 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) |
|
May 10, 2022 | RCV002472918.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022