ClinVar Genomic variation as it relates to human health
GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1
Germline
Classification
(1)
Pathogenic
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 | |||
EFNB1 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
152 | 286 | |
AR | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
811 | 1022 | |
ARHGEF9 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
440 | 572 | |
EDA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
577 | 717 | |
OPHN1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
404 | 546 | |
ZC4H2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
168 | 298 | |
AMER1 | - | - |
GRCh38 GRCh37 |
438 | 572 | |
ASB12 | - | - |
GRCh38 GRCh37 |
23 | 155 | |
EDA2R | - | - |
GRCh38 GRCh37 |
42 | 182 | |
HEPH | - | - |
GRCh38 GRCh37 |
74 | 202 |
There are 11 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) |
|
Nov 14, 2017 | RCV000849932.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022