ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)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 | |||
MAX | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
402 | 549 | |
GPHN | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
756 | 1927 | |
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
180 | 226 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
38 | 61 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 142 | |
ACTR10 | - | - |
GRCh38 GRCh37 |
25 | 41 | |
AKAP5 | - | - |
GRCh38 GRCh37 |
- | 46 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ARID4A | - | - |
GRCh38 GRCh37 |
54 | 78 | |
ARMH4 | - | - | - |
GRCh38 GRCh37 |
11 | 28 |
There are 336 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) |
|
Aug 12, 2011 | RCV000051521.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024