ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)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 | |||
PAFAH1B1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
528 | 613 | |
ABR | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh38 GRCh37 |
54 | 183 | |
PITPNA | No evidence available | No evidence available |
GRCh38 GRCh37 |
8 | 114 | |
YWHAE | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
69 | 209 | |
ALOX15 | - | - |
GRCh38 GRCh37 |
45 | 87 | |
ANKFY1 | - | - |
GRCh38 GRCh37 |
128 | 185 | |
ARRB2 | - | - |
GRCh38 GRCh37 |
19 | 55 | |
ASPA | - | - |
GRCh38 GRCh37 |
18 | 489 | |
ATP2A3 | - | - |
GRCh38 GRCh37 |
112 | 154 | |
BHLHA9 | - | - |
GRCh38 GRCh37 |
59 | 186 |
There are 107 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Feb 15, 2018 | RCV001007429.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024