ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:28734571-29043450)
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 |
201 | 355 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
759 | 955 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
27 | 180 | |
CD19 | - | - |
GRCh38 GRCh37 |
338 | 488 | |
EIF3C | - | - |
GRCh38 GRCh37 |
2 | 105 | |
LAT | - | - |
GRCh38 GRCh37 |
171 | 318 | |
NFATC2IP | - | - |
GRCh38 GRCh37 |
14 | 163 | |
RABEP2 | - | - |
GRCh38 GRCh37 |
29 | 187 | |
SPNS1 | - | - |
GRCh38 GRCh37 |
19 | 166 | |
TUFM | - | - |
GRCh38 GRCh37 |
163 | 338 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 1, 2018 | RCV000767609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022