ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)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 | |||
LHX4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
64 | 204 | |
ABL2 | - | - |
GRCh38 GRCh37 |
50 | 77 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
25 | 160 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 62 | |
APOBEC4 | - | - |
GRCh38 GRCh37 |
- | 45 | |
ARPC5 | - | - |
GRCh38 GRCh37 |
5 | 36 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
95 | 122 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
67 | 277 |
BRINP2 | - | - |
GRCh38 GRCh37 |
39 | 69 | |
C1orf21 | - | - | - |
GRCh38 GRCh37 |
4 | 29 |
There are 339 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) |
|
Aug 12, 2011 | RCV000051221.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024