ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p21.2-21.1(chr1:100146136-106580074)x1
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 | |||
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2617 | 2714 | |
AGL | - | - |
GRCh38 GRCh37 |
2668 | 2688 | |
AMY1A | - | - |
GRCh38 GRCh37 |
9 | 41 | |
AMY1B | - | - |
GRCh38 GRCh37 |
5 | 32 | |
AMY1C | - | - |
GRCh38 GRCh37 |
3 | 30 | |
AMY2A | - | - |
GRCh38 GRCh37 |
25 | 59 | |
AMY2B | - | - |
GRCh38 GRCh37 |
52 | 86 | |
CDC14A | - | - |
GRCh38 GRCh37 |
210 | 225 | |
DBT | - | - |
GRCh38 GRCh37 |
803 | 816 | |
DPH5 | - | - |
GRCh38 GRCh37 |
5 | 30 |
There are 15 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) |
|
Dec 19, 2022 | RCV003483238.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024