ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.11(chr19:16857649-17423590)x3
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 | |||
ABHD8 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
ANKLE1 | - | - |
GRCh38 GRCh37 |
80 | 98 | |
BABAM1 | - | - |
GRCh38 GRCh37 |
17 | 34 | |
CPAMD8 | - | - |
GRCh38 GRCh37 |
476 | 495 | |
DDA1 | - | - | - |
GRCh38 GRCh37 |
2 | 20 |
F2RL3 | - | - |
GRCh38 GRCh37 |
40 | 57 | |
HAUS8 | - | - |
GRCh38 GRCh37 |
36 | 57 | |
MRPL34 | - | - |
GRCh38 GRCh37 |
15 | 53 | |
MYO9B | - | - |
GRCh38 GRCh37 |
211 | 227 | |
NR2F6 | - | - |
GRCh38 GRCh37 |
23 | 47 |
There are 5 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) |
|
- | RCV003986116.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024