ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)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 | |||
ABHD8 | - | - | - |
GRCh38 GRCh37 |
- | 36 |
ANKLE1 | - | - |
GRCh38 GRCh37 |
75 | 93 | |
ANO8 | - | - |
GRCh38 GRCh37 |
78 | 105 | |
AP1M1 | - | - |
GRCh38 GRCh37 |
13 | 30 | |
BABAM1 | - | - |
GRCh38 GRCh37 |
15 | 32 | |
BST2 | - | - |
GRCh38 GRCh37 |
5 | 22 | |
C19orf44 | - | - | - |
GRCh38 GRCh37 |
7 | 33 |
CALR3 | - | - |
GRCh38 GRCh37 |
295 | 314 | |
CHERP | - | - |
GRCh38 GRCh37 |
26 | 49 | |
CIB3 | - | - |
GRCh38 GRCh37 |
16 | 33 |
There are 38 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) |
|
Feb 6, 2017 | RCV000487468.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023