ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
DSP | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4725 | 4938 | |
NEDD9 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
42 | 82 | |
H1-4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
154 | 170 | |
JARID2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
190 | 223 | |
ABCF1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
48 | 54 | |
ABT1 | - | - |
GRCh38 GRCh38 GRCh37 |
15 | 32 | |
ACOT13 | - | - |
GRCh38 GRCh37 |
10 | 20 | |
ADTRP | - | - |
GRCh38 GRCh37 |
12 | 40 | |
ALDH5A1 | - | - |
GRCh38 GRCh37 |
615 | 831 | |
ARMH2 | - | - | - | GRCh38 | - | 5 |
There are 1332 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Jun 11, 2012 | RCV000138956.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024