ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q41(chr1:215447347-221971832)x3
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 | |||
BPNT1 | - | - |
GRCh38 GRCh37 |
11 | 47 | |
C1orf115 | - | - | - |
GRCh38 GRCh37 |
5 | 37 |
DUSP10 | - | - |
GRCh38 GRCh37 |
26 | 57 | |
EPRS1 | - | - |
GRCh38 GRCh37 |
341 | 386 | |
ESRRG | - | - |
GRCh38 GRCh37 |
19 | 55 | |
GPATCH2 | - | - |
GRCh38 GRCh37 |
22 | 60 | |
HLX | - | - |
GRCh38 GRCh37 |
21 | 55 | |
HLX-AS1 | - | - | - | GRCh38 | - | 17 |
IARS2 | - | - |
GRCh38 GRCh37 |
468 | 527 | |
KCTD3 | - | - |
GRCh38 GRCh37 |
38 | 65 |
There are 127 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051874.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023