ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1
Germline
Classification
(1)
Pathogenic
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 | |||
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2601 | 2695 | |
AGL | - | - |
GRCh38 GRCh37 |
2646 | 2665 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
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 |
209 | 224 | |
DBT | - | - |
GRCh38 GRCh37 |
794 | 807 |
There are 186 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000135333.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023