ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q36.2-36.3(chr7:152918472-159307523)x1
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 | |||
MNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
231 | 400 | |
SHH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
332 | 569 | |
DPP6 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
249 | 298 | |
RNF32 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
8 | 112 | |
DNAJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
439 | 530 | |
EN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
30 | 113 | |
BLACE | - | - | GRCh38 | - | 40 | |
CNPY1 | - | - |
GRCh38 GRCh37 |
6 | 91 | |
DYNC2I1 | - | - |
GRCh38 GRCh37 |
465 | 592 | |
EN2-DT | - | - | - | GRCh38 | - | 41 |
There are 196 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054191.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023