ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1
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 | |||
ATM | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10007 | 16113 | |
FZD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
75 | 492 | |
SDHD | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
642 | 778 | |
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
64 | 89 | |
TMEM135 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 | |
AASDHPPT | - | - |
GRCh38 GRCh37 |
17 | 43 | |
ACAT1 | - | - |
GRCh38 GRCh37 |
716 | 739 | |
ALG9 | - | - |
GRCh38 GRCh37 |
282 | 328 | |
ALKBH8 | - | - |
GRCh38 GRCh37 |
78 | 97 | |
AMOTL1 | - | - |
GRCh38 GRCh37 |
49 | 69 |
There are 175 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2021 | RCV001832892.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023