ClinVar Genomic variation as it relates to human health
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CLDN17 | - | - |
GRCh38 GRCh37 |
16 | 85 | |
CLDN8 | - | - |
GRCh38 GRCh37 |
19 | 87 | |
GRIK1 | - | - |
GRCh38 GRCh37 |
65 | 148 | |
KRTAP13-1 | - | - |
GRCh38 GRCh37 |
15 | 83 | |
KRTAP13-2 | - | - | - |
GRCh38 GRCh37 |
14 | 81 |
KRTAP13-3 | - | - | - |
GRCh38 GRCh37 |
10 | 78 |
KRTAP13-4 | - | - | - |
GRCh38 GRCh37 |
9 | 77 |
KRTAP15-1 | - | - | - |
GRCh38 GRCh37 |
6 | 74 |
KRTAP19-1 | - | - | - |
GRCh38 GRCh37 |
9 | 76 |
KRTAP19-2 | - | - | - |
GRCh38 GRCh37 |
3 | 70 |
There are 18 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 28, 2018 | RCV000847078.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022