ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3
Germline
Classification
(1)
Likely 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 |
404 | 551 | |
GPHN | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
757 | 1928 | |
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
184 | 231 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
38 | 61 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 143 | |
ACTR10 | - | - |
GRCh38 GRCh37 |
25 | 41 | |
AKAP5 | - | - |
GRCh38 GRCh37 |
- | 46 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
30 | 48 | |
ARG2 | - | - |
GRCh38 GRCh37 |
- | 51 | |
ARID4A | - | - |
GRCh38 GRCh37 |
54 | 78 |
There are 63 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Dec 28, 2022 | RCV003485034.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024