ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
SPEN | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
539 | 573 | |
ARHGEF19 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 87 | |
CLCNKA | - | - |
GRCh38 GRCh37 |
26 | 226 | |
CLCNKB | - | - |
GRCh38 GRCh37 |
29 | 533 | |
CPLANE2 | - | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 58 |
EPHA2 | - | - |
GRCh38 GRCh37 |
306 | 340 | |
FAM131C | - | - | - |
GRCh38 GRCh37 |
23 | 62 |
FBLIM1 | - | - |
GRCh38 GRCh37 |
37 | 67 | |
FBXO42 | - | - |
GRCh38 GRCh38 GRCh37 |
34 | 58 | |
HSPB7 | - | - |
GRCh38 GRCh37 |
22 | 51 |
There are 4 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) |
|
Aug 11, 2017 | RCV000847705.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023