ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1
Germline
Classification
(1)
Pathogenic
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 |
2595 | 2689 | |
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10 | 43 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
40 | 66 | |
ADORA3 | - | - |
GRCh38 GRCh37 |
- | 25 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
5 | 26 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
46 | 75 |
ALX3 | - | - |
GRCh38 GRCh37 |
57 | 76 | |
AMIGO1 | - | - |
GRCh38 GRCh37 |
14 | 33 | |
AMPD2 | - | - |
GRCh38 GRCh37 |
284 | 419 | |
AMY1A | - | - |
GRCh38 GRCh37 |
7 | 39 |
There are 268 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) |
|
Aug 12, 2011 | RCV000053879.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023