ClinVar Genomic variation as it relates to human health
NC_000007.13:g.(?_152617597)_(158500659_?)del
Germline
Classification
(2)
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 | |||
MNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
232 | 402 | |
SHH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
342 | 579 | |
RNF32 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
7 | 117 | |
DNAJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
443 | 535 | |
EN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
37 | 120 | |
CNPY1 | - | - |
GRCh38 GRCh37 |
6 | 91 | |
HTR5A | - | - |
GRCh38 GRCh37 |
15 | 109 | |
INSIG1 | - | - |
GRCh38 GRCh37 |
6 | 102 | |
LMBR1 | - | - |
GRCh38 GRCh37 |
217 | 553 | |
NCAPG2 | - | - |
GRCh38 GRCh37 |
99 | 227 |
There are 5 more genes 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) |
|
Jun 29, 2022 | RCV003122160.2 | |
no classifications from unflagged records (1) |
|
- | RCV003122159.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023