ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)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 | |||
ADAMTS1 | - | - |
GRCh38 GRCh37 |
71 | 145 | |
ADAMTS5 | - | - |
GRCh38 GRCh37 |
63 | 133 | |
BACH1 | - | - |
GRCh38 GRCh37 |
43 | 108 | |
CCT8 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 91 | |
CLDN17 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
CLDN8 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
CYYR1 | - | - |
GRCh38 GRCh37 |
3 | 74 | |
GRIK1 | - | - |
GRCh38 GRCh37 |
65 | 148 | |
KRTAP11-1 | - | - |
GRCh38 GRCh37 |
10 | 68 | |
KRTAP13-1 | - | - |
GRCh38 GRCh37 |
15 | 83 |
There are 36 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 15, 2018 | RCV001007118.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022