ClinVar Genomic variation as it relates to human health
NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup
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 | |||
PLP1 | Sufficient evidence for dosage pathogenicity | Sufficient evidence for dosage pathogenicity |
GRCh38 GRCh37 |
17 | 605 | |
ESX1 | - | - |
GRCh38 GRCh37 |
40 | 202 | |
FAM199X | - | - | - |
GRCh38 GRCh37 |
6 | 171 |
H2BW1 | - | - |
GRCh38 GRCh37 |
31 | 208 | |
H2BW2 | - | - | - |
GRCh38 GRCh37 |
26 | 198 |
IL1RAPL2 | - | - |
GRCh38 GRCh37 |
33 | 220 | |
LINC02589 | - | - | - | GRCh38 | - | 81 |
LL0XNC01-250H12.3 | - | - | - | GRCh38 | - | 103 |
LOC113845781 | - | - | - | GRCh38 | - | 83 |
LOC126863296 | - | - | - | GRCh38 | - | 81 |
There are 24 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 2003 | RCV000011842.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 14, 2024
NCBI staff provided an HGVS expression for allelic variant 300401.0021 based on mapping locations of the probes reported in Figure 1 of the paper by Woodward et al., 1998 (PubMed 9634530).