ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_103175204)_(111410059_?)del
Germline
Classification
(1)
Likely 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 | |||
TAF13 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
11 | 44 | |
GNAI3 | No evidence available | No evidence available |
GRCh38 GRCh37 |
43 | 71 | |
AHCYL1 | - | - |
GRCh38 GRCh37 |
7 | 29 | |
AKNAD1 | - | - | - |
GRCh38 GRCh37 |
59 | 88 |
ALX3 | - | - |
GRCh38 GRCh37 |
64 | 83 | |
AMIGO1 | - | - |
GRCh38 GRCh37 |
20 | 39 | |
AMPD2 | - | - |
GRCh38 GRCh37 |
291 | 426 | |
AMY1A | - | - |
GRCh38 GRCh37 |
9 | 41 | |
AMY1B | - | - |
GRCh38 GRCh37 |
5 | 32 | |
AMY1C | - | - |
GRCh38 GRCh37 |
3 | 30 |
There are 234 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754122.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023