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 |
385 | 528 | |
GPHN | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
740 | 1743 | |
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
174 | 220 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
24 | 46 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 140 | |
ACTR10 | - | - |
GRCh38 GRCh37 |
14 | 30 | |
AKAP5 | - | - |
GRCh38 GRCh37 |
- | 36 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
ARID4A | - | - |
GRCh38 GRCh37 |
34 | 56 | |
ARMH4 | - | - | - |
GRCh38 GRCh37 |
3 | 20 |
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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051521.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023