TIALD

Basic information

Region (hg38): 12:121856253-121881238

Links

ENSG00000256811 ∙ ∙ ∙ HGNC:56938 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TIALD gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIALD 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 TIALD

This is a list of pathogenic ClinVar variants found in the TIALD region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-121856304-C-A		Hawkinsinuria;Tyrosinemia type III	Likely benign (Nov 14, 2023)
12-121856304-C-T		Hawkinsinuria;Tyrosinemia type III	Benign (Jan 29, 2024)
12-121856305-C-T		Hawkinsinuria;Tyrosinemia type III	Likely benign (Apr 28, 2023)
12-121856312-G-A		Hawkinsinuria;Tyrosinemia type III	Likely benign (Feb 10, 2022)
12-121856315-C-G		Hawkinsinuria;Tyrosinemia type III	Likely benign (Dec 09, 2023)
12-121856315-C-T		Hawkinsinuria;Tyrosinemia type III	Likely benign (Dec 21, 2022)
12-121856316-T-C		Hawkinsinuria;Tyrosinemia type III	Likely benign (Sep 18, 2019)
12-121856333-G-A		Hawkinsinuria;Tyrosinemia type III	Likely benign (Mar 08, 2023)
12-121856347-C-T		Inborn genetic diseases	Uncertain significance (Oct 29, 2021)
12-121856351-C-T		Hawkinsinuria;Tyrosinemia type III	Likely benign (Jun 20, 2023)
12-121856353-C-G		Hawkinsinuria;Tyrosinemia type III	Uncertain significance (Jul 12, 2021)
12-121856354-G-A		Tyrosinemia type III • Hawkinsinuria • Hawkinsinuria;Tyrosinemia type III	Conflicting classifications of pathogenicity (Jan 28, 2024)
12-121856357-C-T		Hawkinsinuria;Tyrosinemia type III	Benign/Likely benign (Mar 01, 2024)
12-121856358-G-A		Inborn genetic diseases	Uncertain significance (Mar 25, 2022)
12-121856360-A-G		Hawkinsinuria;Tyrosinemia type III	Likely benign (Dec 23, 2022)
12-121856362-T-C		Inborn genetic diseases	Uncertain significance (Oct 28, 2021)
12-121856374-C-T		Hawkinsinuria;Tyrosinemia type III	Uncertain significance (Sep 01, 2021)
12-121856375-G-A		Tyrosinemia type III;Hawkinsinuria	Likely benign (Nov 20, 2023)
12-121856381-G-A		Hawkinsinuria;Tyrosinemia type III	Likely benign (Oct 23, 2023)
12-121856387-C-G		Hawkinsinuria;Tyrosinemia type III	Likely benign (Aug 29, 2023)
12-121856391-AG-A		Hawkinsinuria;Tyrosinemia type III	Pathogenic (Oct 24, 2023)
12-121856394-T-TGATC		Hawkinsinuria;Tyrosinemia type III	Pathogenic (Feb 22, 2023)
12-121856399-G-A		Hawkinsinuria;Tyrosinemia type III	Likely benign (Jan 25, 2024)
12-121856399-GC-G		Tyrosinemia type III • Hawkinsinuria;Tyrosinemia type III	Pathogenic/Likely pathogenic (Jun 14, 2023)
12-121856401-C-T		Hawkinsinuria;Tyrosinemia type III • HPD-related disorder	Uncertain significance (Dec 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP