TILAM

Basic information

Region (hg38): 17:50199876-50215922

Links

ENSG00000249406 ∙ ∙ ∙ HGNC:52795 ∙ ∙ ∙ 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 TILAM gene.

Variants pathogenicity by type

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

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

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

Position	Type	Phenotype	Significance	ClinVar
17-50199879-AG-A		Osteogenesis imperfecta type I	Pathogenic (Oct 02, 2024)
17-50199882-G-A		Osteogenesis imperfecta type I	Uncertain significance (Feb 19, 2022)
17-50199882-G-C		Osteogenesis imperfecta type I	Likely benign (Nov 13, 2023)
17-50199883-C-T		Osteogenesis imperfecta type I • Cardiovascular phenotype	Likely benign (Jan 12, 2024)
17-50199882-G-GCTCGGGT		Osteogenesis imperfecta	Pathogenic (Nov 08, 2023)
17-50199886-G-A		not specified	Likely benign (Oct 24, 2016)
17-50199887-G-T		Osteogenesis imperfecta type I	Uncertain significance (Nov 08, 2023)
17-50199887-GGTTTCCACAC-G		Osteogenesis imperfecta type I	Pathogenic (Apr 06, 2021)
17-50199888-GT-G			Pathogenic (Sep 15, 2015)
17-50199892-C-T		Osteogenesis imperfecta type I • Ehlers-Danlos syndrome, arthrochalasia type	Pathogenic/Likely pathogenic (Jul 27, 2023)
17-50199893-C-T		Osteogenesis imperfecta type I	Pathogenic (Nov 28, 2023)
17-50199895-C-T		Osteogenesis imperfecta type I	Likely benign (Aug 28, 2021)
17-50199903-G-A			Pathogenic (Oct 01, 2019)
17-50199903-G-T		Osteogenesis imperfecta type I	Likely benign (Aug 02, 2021)
17-50199903-GGT-G		Osteogenesis imperfecta type I	Pathogenic (Dec 28, 2020)
17-50199907-A-G		Osteogenesis imperfecta type I	Benign (Aug 09, 2023)
17-50199907-A-T		Osteogenesis imperfecta type I • Ehlers-Danlos syndrome • Osteogenesis imperfecta • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Jan 29, 2024)
17-50199908-T-A		Osteogenesis imperfecta type I	Uncertain significance (Sep 23, 2022)
17-50199908-T-C		Osteogenesis imperfecta type I	Benign (Jul 07, 2023)
17-50199910-G-C		Osteogenesis imperfecta type I	Likely pathogenic (-)
17-50199912-AC-A		Osteogenesis imperfecta type I	Pathogenic (Jul 28, 2021)
17-50199917-AG-C			Likely pathogenic (Mar 01, 2020)
17-50199918-G-C		Osteogenesis imperfecta type I	Benign/Likely benign (Jul 16, 2023)
17-50199920-C-T		COL1A1-related disorder	Uncertain significance (Jul 18, 2024)
17-50199925-C-G		Osteogenesis imperfecta type I	Likely benign (Sep 28, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP