ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3
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 | |||
FLG | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2 | 1072 | |
POGZ | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
612 | 629 | |
SF3B4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
104 | 123 | |
GJA5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
216 | 569 | |
GJA8 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
186 | 470 | |
CHD1L | No evidence available | No evidence available |
GRCh38 GRCh37 |
143 | 488 | |
ACP6 | - | - |
GRCh38 GRCh37 |
25 | 309 | |
ADAMTSL4 | - | - |
GRCh38 GRCh37 |
415 | 1225 | |
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
3 | 205 |
ANKRD35 | - | - | - |
GRCh38 GRCh37 |
43 | 240 |
There are 146 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 22, 2015 | RCV000223957.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023