ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ARAP1 | - | - |
GRCh38 GRCh37 |
101 | 126 | |
ARAP1-AS2 | - | - | - |
GRCh38 GRCh37 |
- | 25 |
ARHGEF17 | - | - |
GRCh38 GRCh37 |
112 | 153 | |
ARHGEF17-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 33 |
ATG16L2 | - | - |
GRCh38 GRCh37 |
36 | 60 | |
C2CD3 | - | - |
GRCh38 GRCh37 |
859 | 927 | |
COA4 | - | - |
GRCh38 GRCh37 |
4 | 27 | |
DNAJB13 | - | - |
GRCh38 GRCh37 |
155 | 182 | |
FAM168A | - | - |
GRCh38 GRCh37 |
7 | 25 | |
FCHSD2 | - | - |
GRCh38 GRCh37 |
35 | 55 |
There are 17 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) |
|
Nov 9, 2022 | RCV003483128.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024