VPS33B-DT

VPS33B divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 15:90994657-91036611

Links

ENSG00000214432 ∙ NCBI:101926911 ∙ ∙ HGNC:51413 ∙ ∙ ∙ 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 VPS33B-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VPS33B-DT 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 VPS33B-DT

This is a list of pathogenic ClinVar variants found in the VPS33B-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
15-90998629-T-A		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 13, 2018)
15-90998713-A-C		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 12, 2018)
15-90998714-A-T		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Apr 27, 2017)
15-90998820-T-C		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 12, 2018)
15-90998850-G-A		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 12, 2018)
15-90998862-C-T		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 13, 2018)
15-90998965-G-A		Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (Jan 12, 2018)
15-90998976-C-T			Likely benign (May 06, 2024)
15-90998978-G-A			Uncertain significance (Aug 15, 2017)
15-90998988-TC-AG		Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12	Uncertain significance (Feb 01, 2024)
15-90999009-C-T		Inborn genetic diseases	Uncertain significance (Apr 15, 2024)
15-90999013-C-T		VPS33B-related disorder • Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12	Uncertain significance (Mar 18, 2024)
15-90999014-G-A			Likely benign (Jul 10, 2024)
15-90999015-C-T		Inborn genetic diseases	Uncertain significance (Jun 07, 2023)
15-90999023-G-T			Likely benign (Feb 28, 2018)
15-90999032-C-G		Cholestasis, progressive familial intrahepatic, 12;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Arthrogryposis, renal dysfunction, and cholestasis 1	Uncertain significance (May 07, 2024)
15-90999032-C-T			Likely benign (Jun 27, 2023)
15-90999033-G-A		Inborn genetic diseases	Uncertain significance (Aug 15, 2023)
15-90999047-C-T			Likely benign (Jul 17, 2023)
15-90999048-C-T			Uncertain significance (Sep 24, 2024)
15-90999049-T-C		Arthrogryposis, renal dysfunction, and cholestasis 1 • not specified • Arthrogryposis, renal dysfunction, and cholestasis 1;Keratoderma-ichthyosis-deafness syndrome, autosomal recessive;Cholestasis, progressive familial intrahepatic, 12	Conflicting classifications of pathogenicity (Feb 23, 2024)
15-90999061-A-G			Likely benign (May 20, 2024)
15-90999068-T-C		Arthrogryposis, renal dysfunction, and cholestasis 1 • not specified	Conflicting classifications of pathogenicity (Jan 14, 2025)
15-90999107-C-T			Benign (Nov 12, 2018)
15-90999183-G-GC			Likely benign (Jan 13, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP