ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3
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 | |
AQP8 | - | - |
GRCh38 GRCh37 |
25 | 57 | |
ARHGAP17 | - | - |
GRCh38 GRCh38 GRCh37 |
48 | 80 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
770 | 969 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
46 | 204 | |
C16orf82 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
CACNG3 | - | - |
GRCh38 GRCh37 |
5 | 38 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 495 | |
CDR2 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 154 |
There are 56 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) |
|
Nov 1, 2022 | RCV001006786.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024