ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3
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 | |||
GLMN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
109 | 143 | |
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2630 | 2727 | |
ABCA4 | - | - |
GRCh38 GRCh37 |
3700 | 4057 | |
ABCD3 | - | - |
GRCh38 GRCh37 |
120 | 132 | |
AGL | - | - |
GRCh38 GRCh37 |
2634 | 2656 | |
ALG14 | - | - |
GRCh38 GRCh37 |
77 | 157 | |
ALG14-AS1 | - | - | - | GRCh38 | - | 38 |
AMY1A | - | - |
GRCh38 GRCh37 |
7 | 54 | |
AMY1B | - | - |
GRCh38 GRCh37 |
2 | 42 | |
AMY1C | - | - |
GRCh38 GRCh37 |
2 | 42 |
There are 540 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) |
|
Feb 18, 2011 | RCV000135654.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023