FLICR
Basic information
Region (hg38): X:49262866-49270521
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Insulin-dependent diabetes mellitus secretory diarrhea syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FLICR gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 32 | 42 | ||||
Total | 1 | 0 | 32 | 2 | 7 |
Variants in FLICR
This is a list of pathogenic ClinVar variants found in the FLICR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-49264507-C-CTAT | not specified | Benign (Jan 24, 2024) | ||
X-49264509-A-ATTT | not specified | Benign (Jan 24, 2024) | ||
X-49264512-A-ATTT | not specified | Benign (Jan 24, 2024) | ||
X-49264508-TATTATT-TATTATT | Benign (Nov 11, 2018) | |||
X-49264657-T-C | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Uncertain significance (Feb 08, 2022) | ||
X-49264658-C-T | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Uncertain significance (May 06, 2022) | ||
X-49264660-C-A | Insulin-dependent diabetes mellitus secretory diarrhea syndrome | Pathogenic (Feb 27, 2017) | ||
X-49264666-T-C | FOXP3-related disorder | Likely benign (Aug 28, 2019) | ||
X-49264711-G-A | Uncertain significance (Aug 06, 2021) | |||
X-49264716-G-A | not specified | Benign (Dec 01, 2017) | ||
X-49264839-G-A | not specified | Uncertain significance (Mar 06, 2020) | ||
X-49264991-C-G | not specified | Uncertain significance (Apr 18, 2016) | ||
X-49269874-C-T | Uncertain significance (Jun 17, 2024) | |||
X-49269909-T-C | not specified | Likely benign (Apr 07, 2023) | ||
X-49269927-G-A | not specified | Uncertain significance (Jun 22, 2021) | ||
X-49269946-C-T | not specified | Uncertain significance (Feb 22, 2023) | ||
X-49269958-C-T | not specified | Uncertain significance (Apr 07, 2023) | ||
X-49269997-C-A | not specified | Uncertain significance (Apr 17, 2024) | ||
X-49270036-C-G | not specified | Uncertain significance (Feb 12, 2025) | ||
X-49270040-G-T | not specified | Uncertain significance (Dec 07, 2023) | ||
X-49270053-GCGGGCAAGATGGCGGCGGCGGC-G | Pathogenic (Dec 03, 2024) | |||
X-49270071-G-A | not specified | Uncertain significance (Aug 04, 2021) | ||
X-49270072-C-T | not specified | Uncertain significance (Feb 26, 2024) | ||
X-49270077-G-C | not specified | Uncertain significance (Nov 18, 2022) | ||
X-49270093-G-A | not specified | Uncertain significance (Apr 28, 2022) |
GnomAD
Source:
dbNSFP
Source: