ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q36.2-36.3(chr7:154963758-157582526)x3
Germline
Classification
(1)
Likely 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 |
237 | 409 | |
SHH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
363 | 606 | |
RNF32 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
7 | 117 | |
DNAJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
444 | 536 | |
EN2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
37 | 120 | |
CNPY1 | - | - |
GRCh38 GRCh37 |
6 | 91 | |
INSIG1 | - | - |
GRCh38 GRCh37 |
6 | 102 | |
LMBR1 | - | - |
GRCh38 GRCh37 |
218 | 562 | |
NOM1 | - | - |
GRCh38 GRCh37 |
78 | 171 | |
PTPRN2 | - | - |
GRCh38 GRCh37 |
140 | 253 |
There are 2 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Sep 9, 2015 | RCV000510598.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024