ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q36.3(chr7:155574967-159335866)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |
RNF32 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
8 | 112 | |
DNAJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
439 | 530 | |
DYNC2I1 | - | - |
GRCh38 GRCh37 |
465 | 592 | |
ESYT2 | - | - |
GRCh38 GRCh37 |
38 | 174 | |
LINC00244 | - | - | - | GRCh38 | - | 45 |
LINC00689 | - | - | - | GRCh38 | - | 55 |
LINC01022 | - | - | - | GRCh38 | - | 53 |
LMBR1 | - | - |
GRCh38 GRCh37 |
212 | 545 |
There are 140 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) |
|
Jan 9, 2013 | RCV000141247.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024