ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)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 | |||
YTHDC1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
26 | 52 | |
HTN3 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh38 GRCh37 |
5 | 36 | |
ADGRL3 | - | - |
GRCh38 GRCh37 |
55 | 73 | |
AMBN | - | - |
GRCh38 GRCh37 |
52 | 81 | |
AMTN | - | - |
GRCh38 GRCh37 |
17 | 45 | |
CABS1 | - | - |
GRCh38 GRCh37 |
22 | 54 | |
CENPC | - | - |
GRCh38 GRCh37 |
49 | 75 | |
CSN1S1 | - | - |
GRCh38 GRCh37 |
14 | 45 | |
CSN2 | - | - |
GRCh38 GRCh38 GRCh37 |
19 | 50 | |
CSN3 | - | - |
GRCh38 GRCh37 |
14 | 44 |
There are 44 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) |
|
Jun 1, 2023 | RCV003485417.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024