ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_127451420)_(129076137_?)del
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 | |||
AMMECR1L | - | - | - |
GRCh38 GRCh37 |
12 | 38 |
BIN1 | - | - |
GRCh38 GRCh37 |
700 | 750 | |
CYP27C1 | - | - | - |
GRCh38 GRCh37 |
28 | 57 |
ERCC3 | - | - |
GRCh38 GRCh37 |
554 | 584 | |
GPR17 | - | - |
GRCh38 GRCh37 |
- | 53 | |
GYPC | - | - |
GRCh38 GRCh37 |
42 | 73 | |
HS6ST1 | - | - |
GRCh38 GRCh37 |
118 | 151 | |
IWS1 | - | - | - |
GRCh38 GRCh37 |
34 | 60 |
LIMS2 | - | - |
GRCh38 GRCh37 |
312 | 366 | |
MAP3K2 | - | - |
GRCh38 GRCh37 |
19 | 48 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 20, 2021 | RCV003119332.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023