ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p13.3(chr16:46766-1997582)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 | |||
NPRL3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
161 | 1043 | |
TPSD1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 95 | |
SOX8 | No evidence available | No evidence available |
GRCh38 GRCh37 |
68 | 132 | |
ANTKMT | - | - |
GRCh38 GRCh37 |
24 | 93 | |
ARHGDIG | - | - |
GRCh38 GRCh37 |
20 | 86 | |
AXIN1 | - | - |
GRCh38 GRCh37 |
83 | 155 | |
BAIAP3 | - | - |
GRCh38 GRCh37 |
136 | 196 | |
C1QTNF8 | - | - |
GRCh38 GRCh37 |
17 | 79 | |
CACNA1H | - | - |
GRCh38 GRCh37 |
3421 | 3485 | |
CAPN15 | - | - |
GRCh38 GRCh38 GRCh37 |
195 | 264 |
There are 245 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053253.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024