ClinVar Genomic variation as it relates to human health
NC_000004.11:g.(?_38765721)_(41750627_?)dup
Germline
Classification
(1)
Uncertain significance
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 | |||
PHOX2B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
768 | 1111 | |
APBB2 | - | - |
GRCh38 GRCh37 |
48 | 67 | |
CHRNA9 | - | - |
GRCh38 GRCh37 |
40 | 59 | |
FAM114A1 | - | - | - |
GRCh38 GRCh37 |
33 | 54 |
KLB | - | - |
GRCh38 GRCh37 |
137 | 179 | |
KLHL5 | - | - |
GRCh38 GRCh37 |
36 | 58 | |
LIAS | - | - |
GRCh38 GRCh37 |
373 | 443 | |
LIMCH1 | - | - |
GRCh38 GRCh37 |
83 | 102 | |
N4BP2 | - | - |
GRCh38 GRCh37 |
106 | 127 | |
NSUN7 | - | - |
GRCh38 GRCh37 |
52 | 71 |
There are 14 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 3, 2022 | RCV003107887.11 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024