LIM2-AS1
Basic information
Region (hg38): 19:51387085-51412636
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the LIM2-AS1 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 | 0 | |||||
Total | 0 | 0 | 0 | 0 | 0 |
Variants in LIM2-AS1
This is a list of pathogenic ClinVar variants found in the LIM2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-51387156-C-G | Cataract 19 multiple types | Uncertain significance (Jan 12, 2018) | ||
19-51387161-C-T | Inborn genetic diseases | Uncertain significance (Nov 09, 2021) | ||
19-51387182-T-C | Cataract 19 multiple types | Uncertain significance (Jul 21, 2020) | ||
19-51387186-T-C | Cataract 19 multiple types • LIM2-related disorder | Likely benign (Jun 14, 2023) | ||
19-51387192-A-G | Cataract 19 multiple types | Uncertain significance (Apr 27, 2017) | ||
19-51387213-G-A | Cataract 19 multiple types | Uncertain significance (Jan 13, 2018) | ||
19-51387219-C-T | Cataract 19 multiple types | Conflicting classifications of pathogenicity (Sep 26, 2023) | ||
19-51387223-C-T | Cataract 19 multiple types | Uncertain significance (Oct 13, 2023) | ||
19-51387238-G-A | Uncertain significance (Mar 06, 2024) | |||
19-51387239-C-T | Cataract 19 multiple types | Uncertain significance (Jan 13, 2018) | ||
19-51387240-G-A | LIM2-related disorder | Likely benign (Mar 19, 2021) | ||
19-51387241-C-T | Cataract 19 multiple types • Inborn genetic diseases | Uncertain significance (Jul 20, 2021) | ||
19-51387258-G-A | Cataract 19 multiple types | Benign/Likely benign (Jul 23, 2023) | ||
19-51387262-G-A | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | ||
19-51387270-G-A | Cataract 19 multiple types | Uncertain significance (Jan 13, 2018) | ||
19-51387286-A-G | LIM2-related disorder | Uncertain significance (Feb 09, 2023) | ||
19-51387300-G-A | Cataract 19 multiple types | Likely benign (Oct 06, 2023) | ||
19-51387303-C-G | Cataract 19 multiple types | Uncertain significance (Jan 13, 2018) | ||
19-51387313-C-T | Cataract 19 multiple types • Inborn genetic diseases | Uncertain significance (Apr 11, 2023) | ||
19-51387314-G-A | Inborn genetic diseases | Uncertain significance (Mar 13, 2023) | ||
19-51387336-G-A | Cataract 19 multiple types | Uncertain significance (Jan 12, 2018) | ||
19-51387344-A-T | Cataract 19 multiple types | Uncertain significance (Apr 27, 2017) | ||
19-51387350-G-A | Inborn genetic diseases | Uncertain significance (Apr 05, 2023) | ||
19-51387366-G-A | Likely benign (Nov 01, 2024) | |||
19-51387387-C-T | Cataract 19 multiple types • LIM2-related disorder • Inborn genetic diseases | Conflicting classifications of pathogenicity (Dec 27, 2023) |
GnomAD
Source:
dbNSFP
Source: