ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1q41(chr1:221979950-223007060)x3
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 | |||
DISP1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
335 | 369 | |
AIDA | - | - |
GRCh38 GRCh37 |
10 | 42 | |
BROX | - | - | - |
GRCh38 GRCh37 |
17 | 49 |
FAM177B | - | - | - |
GRCh38 GRCh37 |
4 | 36 |
HHIPL2 | - | - |
GRCh38 GRCh37 |
65 | 96 | |
LINC02474 | - | - | - | GRCh38 | - | 13 |
LOC120807610 | - | - | - | GRCh38 | - | 9 |
LOC126806023 | - | - | - | GRCh38 | - | 10 |
LOC126806024 | - | - | - | GRCh38 | - | 10 |
LOC126806025 | - | - | - | GRCh38 | - | 10 |
There are 26 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
|
Uncertain significance (1) |
|
Oct 7, 2011 | RCV000137718.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024