ClinVar Genomic variation as it relates to human health
GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)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 | |||
ABHD18 | - | - | - |
GRCh38 GRCh37 |
16 | 61 |
HSPA4L | - | - |
GRCh38 GRCh37 |
43 | 73 | |
INTU | - | - |
GRCh38 GRCh37 |
270 | 338 | |
LOC123480929 | - | - | - | GRCh38 | - | 8 |
LOC123480930 | - | - | - | GRCh38 | - | 21 |
LOC126807151 | - | - | - | GRCh38 | - | 34 |
LOC129993049 | - | - | - | GRCh38 | - | 9 |
LOC129993050 | - | - | - | GRCh38 | - | 9 |
LOC129993051 | - | - | - | GRCh38 | - | 9 |
LOC129993052 | - | - | - | GRCh38 | - | 9 |
There are 14 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 14, 2011 | RCV000137400.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024