ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q11.2(chr17:28387597-30812008)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 | |||
NF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
13560 | 13967 | |
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 | |
ADAP2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 80 | |
ATAD5 | - | - |
GRCh38 GRCh37 |
120 | 179 | |
BLMH | - | - |
GRCh38 GRCh37 |
17 | 30 | |
C17orf75 | - | - | - |
GRCh38 GRCh37 |
2 | 16 |
COPRS | - | - | - |
GRCh38 GRCh37 |
4 | 57 |
CPD | - | - |
GRCh38 GRCh37 |
76 | 86 |
There are 18 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 19, 2023 | RCV003483317.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024