ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1
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 | |||
SIX1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
171 | 220 | |
SIX4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
24 | 50 | |
SIX6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
- | 143 | |
ACTR10 | - | - |
GRCh38 GRCh37 |
14 | 37 | |
ARID4A | - | - |
GRCh38 GRCh37 |
36 | 65 | |
ARMH4 | - | - | - |
GRCh38 GRCh37 |
4 | 24 |
C14orf39 | - | - |
GRCh38 GRCh37 |
12 | 151 | |
CCDC175 | - | - | - |
GRCh38 GRCh37 |
30 | 52 |
CCDC198 | - | - | - |
GRCh38 GRCh37 |
2 | 22 |
DAAM1 | - | - |
GRCh38 GRCh37 |
52 | 72 |
There are 24 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 24, 2021 | RCV002472446.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023