ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria 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 | |||
ANO7 | - | - |
GRCh38 GRCh37 |
154 | 294 | |
ATG4B | - | - |
GRCh38 GRCh37 |
26 | 142 | |
BOK | - | - |
GRCh38 GRCh37 |
10 | 126 | |
D2HGDH | - | - |
GRCh38 GRCh37 |
321 | 491 | |
DTYMK | - | - |
GRCh38 GRCh37 |
17 | 136 | |
FARP2 | - | - |
GRCh38 GRCh37 |
81 | 206 | |
GAL3ST2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 138 | |
HDLBP | - | - |
GRCh38 GRCh37 |
40 | 182 | |
ING5 | - | - |
GRCh38 GRCh37 |
9 | 125 | |
NEU4 | - | - |
GRCh38 GRCh38 GRCh37 |
40 | 154 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV000448540.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022