ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p11.2(chr16:28615644-29042118)
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 |
205 | 359 | |
ATP2A1 | - | - |
GRCh38 GRCh37 |
764 | 960 | |
ATXN2L | - | - |
GRCh38 GRCh37 |
45 | 200 | |
CD19 | - | - |
GRCh38 GRCh37 |
342 | 492 | |
EIF3C | - | - |
GRCh38 GRCh37 |
3 | 106 | |
LAT | - | - |
GRCh38 GRCh37 |
173 | 320 | |
NFATC2IP | - | - |
GRCh38 GRCh37 |
17 | 167 | |
RABEP2 | - | - |
GRCh38 GRCh37 |
33 | 191 | |
SPNS1 | - | - |
GRCh38 GRCh37 |
22 | 169 | |
SULT1A1 | - | - |
GRCh38 GRCh37 |
28 | 123 |
There is 1 more gene 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) |
|
Oct 1, 2020 | RCV001291965.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 23, 2023