ClinVar Genomic variation as it relates to human health
NC_000001.10:g.172652343_183538289del10885947
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 |
66 | 208 | |
ABL2 | - | - |
GRCh38 GRCh37 |
51 | 78 | |
ACBD6 | - | - |
GRCh38 GRCh37 |
26 | 163 | |
ANGPTL1 | - | - |
GRCh38 GRCh37 |
- | 62 | |
ANKRD45 | - | - |
GRCh38 GRCh37 |
13 | 50 | |
ASTN1 | - | - |
GRCh38 GRCh37 |
95 | 122 | |
AXDND1 | - | - | - |
GRCh38 GRCh37 |
70 | 283 |
BRINP2 | - | - |
GRCh38 GRCh37 |
39 | 69 | |
CACNA1E | - | - |
GRCh38 GRCh37 |
2021 | 2053 | |
CACYBP | - | - |
GRCh38 GRCh37 |
8 | 40 |
There are 53 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) |
|
Dec 6, 2018 | RCV000785662.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023