ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3
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 | |||
KMT2C | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1757 | 1908 | |
MNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
236 | 408 | |
SHH | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
360 | 603 | |
DPP6 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 |
268 | 317 | |
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 | |
ACTR3B | - | - | - |
GRCh38 GRCh37 |
11 | 100 |
BLACE | - | - | GRCh38 | - | 40 | |
CNPY1 | - | - |
GRCh38 GRCh37 |
6 | 91 |
There are 217 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 21, 2012 | RCV000139725.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024