ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3
Germline
Classification
(1)
Likely 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 | |||
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
61 | 190 | |
ABL2 | - | - |
GRCh38 GRCh37 |
47 | 74 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
18 | 142 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 57 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
12 | 48 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 43 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
88 | 115 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
57 | 264 |
BRINP2 | - | - |
GRCh38 GRCh37 |
38 | 67 |
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) |
|
Jul 14, 2015 | RCV000512520.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024