ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3
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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13560 | 13967 | |
CRYBA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 82 | |
RNF135 | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
87 | 147 | |
SLC6A4 | No evidence available | No evidence available |
GRCh38 GRCh37 |
124 | 144 | |
SUZ12 | No evidence available | No evidence available |
GRCh38 GRCh37 |
112 | 160 | |
ABHD15 | - | - |
GRCh38 GRCh37 |
24 | 45 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 80 | |
ALDOC | - | - |
GRCh38 GRCh37 |
21 | 32 | |
ANKRD13B | - | - |
GRCh38 GRCh37 |
26 | 37 | |
ASIC2 | - | - |
GRCh38 GRCh37 |
36 | 59 |
There are 72 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 3, 2018 | RCV000762776.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023