ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)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 | |||
OTX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
244 | 258 | |
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
174 | 220 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
33 | 56 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 140 | |
ACTR10 | - | - |
GRCh38 GRCh37 |
20 | 36 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
24 | 42 | |
ARID4A | - | - |
GRCh38 GRCh37 |
48 | 72 | |
ARMH4 | - | - | - |
GRCh38 GRCh37 |
11 | 28 |
ATG14 | - | - |
GRCh38 GRCh37 |
- | 45 | |
C14orf39 | - | - |
GRCh38 GRCh37 |
14 | 150 |
There are 39 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 12, 2022 | RCV003483204.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024