ClinVar Genomic variation as it relates to human health
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)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 | |||
COL1A1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2683 | 2880 | |
ABCC3 | - | - |
GRCh38 GRCh37 |
87 | 101 | |
ABI3 | - | - |
GRCh38 GRCh37 |
23 | 38 | |
ACSF2 | - | - |
GRCh38 GRCh37 |
28 | 56 | |
ANKRD40 | - | - | - |
GRCh38 GRCh37 |
16 | 26 |
ANKRD40CL | - | - | - | GRCh38 | - | 4 |
B4GALNT2 | - | - |
GRCh38 GRCh37 |
39 | 53 | |
CA10 | - | - |
GRCh38 GRCh37 |
15 | 26 | |
CACNA1G | - | - |
GRCh38 GRCh37 |
975 | 1012 | |
CACNA1G-AS1 | - | - | - | GRCh38 | - | 32 |
There are 195 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 | RCV000053432.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023