ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)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 | |||
CD40LG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
275 | 452 | |
FRMD7 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
402 | 578 | |
GPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
935 | 1114 | |
HPRT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
226 | 420 | |
PHF6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
188 | 361 | |
SLC9A6 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
451 | 673 | |
ARHGEF6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 253 | |
ADGRG4 | - | - |
GRCh38 GRCh37 |
159 | 331 | |
ARHGAP36 | - | - |
GRCh38 GRCh37 |
23 | 206 | |
BRS3 | - | - |
GRCh38 GRCh37 |
19 | 194 |
There are 38 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) |
|
Dec 5, 2022 | RCV003483932.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024