ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_127806102)_(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 |
13 | 39 |
BIN1 | - | - |
GRCh38 GRCh37 |
704 | 754 | |
CYP27C1 | - | - |
GRCh38 GRCh37 |
34 | 63 | |
ERCC3 | - | - |
GRCh38 GRCh37 |
563 | 593 | |
GPR17 | - | - |
GRCh38 GRCh37 |
- | 55 | |
HS6ST1 | - | - |
GRCh38 GRCh37 |
122 | 155 | |
IWS1 | - | - | - |
GRCh38 GRCh37 |
39 | 65 |
LIMS2 | - | - |
GRCh38 GRCh37 |
314 | 370 | |
MAP3K2 | - | - |
GRCh38 GRCh37 |
24 | 53 | |
MYO7B | - | - |
GRCh38 GRCh37 |
233 | 283 |
There are 6 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) |
|
Jun 8, 2022 | RCV003110990.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024