ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)
Germline
Classification
(1)
Likely 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 | |||
ARHGAP15 | - | - |
GRCh38 GRCh37 |
19 | 51 | |
GTDC1 | - | - |
GRCh38 GRCh37 |
11 | 51 | |
HNMT | - | - |
GRCh38 GRCh37 |
33 | 58 | |
KYNU | - | - |
GRCh38 GRCh37 |
59 | 84 | |
LRP1B | - | - |
GRCh38 GRCh37 |
321 | 349 | |
NXPH2 | - | - |
GRCh38 GRCh37 |
8 | 26 | |
SPOPL | - | - | - |
GRCh38 GRCh37 |
18 | 37 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053235.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022