USP34-DT

USP34 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 2:61470077-61495188

Links

ENSG00000270820 ∙ NCBI:105377633 ∙ ∙ HGNC:55262 ∙ ∙ ∙ 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 USP34-DT gene.

• not provided (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the USP34-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			2	1	1	4
Total	0	0	2	1	1

Variants in USP34-DT

This is a list of pathogenic ClinVar variants found in the USP34-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
2-61478844-C-A		not specified	Uncertain significance (Mar 28, 2025)
2-61478848-T-C		not specified	Uncertain significance (Apr 15, 2025)
2-61478944-G-A		not specified	Uncertain significance (Oct 26, 2021)
2-61481235-CTTGAT-C		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61481268-G-C		not specified	Uncertain significance (Dec 02, 2021)
2-61482950-T-A			Likely benign (Jul 31, 2018)
2-61483031-C-A		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61484076-C-T			Benign (Dec 31, 2019)
2-61484077-G-A		not specified	Uncertain significance (Mar 01, 2025)
2-61484089-G-C		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61485919-A-T		not specified	Uncertain significance (Sep 27, 2024)
2-61486689-CCTCGTGATCCACCCAACTCAGACTAATGTTTTAATCTAATGAATGCTAACTGGTGAGTATTTTCACAAGCAGAAATAACATCAATCAATTACTCTCAGAAAATAAGAAAGACTATGGATTTCTATTATTTTTTTGAAACTGAATCTTGCCATGTTGCCTAAACTGGACTTGAGCTGGGGTGATTCGCCTGCCTTACCCTCCCTGGTGGTTGGGATTACAGGTGCATGCTACAATGCCCAGTAAGATTTTCATGATTCTAAGTAAACTGAGTTATACTTAAAGAGTAACTTCTTGTTCTTTTTTTTTTTTTGAGACGAAGTTTCCCACTTGTGGCCCAGACTGGGGTGCAATGGCGCAATCTTGGCTCACTGTCACCTCCACCTCTGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGACTTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGAAAAGCCAAGACAAGGAAAATAAACACAATGTTTCATGTGAACAAATATCCCAAACTTTAACATTAATGTTACAAAAGATGATACCCTTTGTATTATTCCCACTGTGCTCCCGACACGTGCTCAAGCTTCTTGTAAATTACAAACATCACAATTCCTTCAATACATCTTACTTTCTGCTTTCAAATTTTAAATACAGTTCTGTTCACATAATACGCATGTTCAGAACCTTTCGATATTTAGGTTAGCCAACTTAAGTATTCCACAAGAATTATATTCAGAACAAGTTTACTGAAAAGTATTTCCTTAACAAGAAACAATACTGAAATTTCAAAACTATGAAAATAACTAGCACACTTGTAAAAAAAAAAACCAAAAAACAAAAAACCAACACTATTCCAAGTAATAGTAGTATTAGAATTTTTTGGACTCTCCCAAGGCTCAATTGAATAACAAGAATGAAACGATACAGTTAAAACCTAAAACTAATTCACAATTTTACAAGTTGAGGCATACGCAGCTGGTTTTTATTACTGAAAATGATTTCCTTTTCTGCAAATCATTTAGGAAAAAGGGTGTAAAAAAGACTTTCAGGCCTTTAATCTGGGAAGCAATCACTTTGCTAAAGAGGTAAAGTAATGACAACTTTGTAGCTCTAGCAATTGTTCTAAAAATCAAGAGGAATGCAAAAACTGCACCGGTACTCCATTAATTAAATCCTCCTAACCTATCTATGGAAACATAAAATGACCCAATTTTCTTAGCTATCTTGTTACATATCACCACCCTTCGCTACTGATTAACAGCAGTTTCTTTTGAAGATGGAATACAGCTATTAGTATATTAACGTAAGGACTACAATAAATAAAATGCCATAAAATAACCACAAAGTTGATATGCTTTAAATTAGCAAAATGCACATAATAGAGTATAGCATATTCCATAAAACACAGCATCAACACTAGAAATCAAAAGCAAAGCATCTCTCACTTACCATCTGTGGATCATTGGATCGGCTCACCCAACCAGATATTAACTTTAAAGTTTCCCTTTTTACAGTTCGCATACTTCTAATCAATGGTTGCTTTGTAACCATTTCACCTACAAAACAGAATCAAATGGAATCTAATTTTACCACTAAACTTATACAGTGGTACTCAGGTGTACATTAGATGCAATTCCATTTTACCATTAAAAAGTTTAAAGCCAAAAGTTCACAAAATTTATTGGGAAAATAAGCTTTAAGACTAATTTTAAAAGGGAAAGGTACACTTAACTGTTTTAAATATGTCTAGGGTCATTTGGGAAATGGGAGGTCTGATTTAAATCTGTAAAAAACATCAAATGTTTGACTTAAGGCAGTAGAAGAGAAGTGGTTTGTTTATACTGCATTGTGTAAGAAATCAGAATCACCTACCATTAGCTTGGATAGCTGCAGAAATATTTTCACTGAGGCACTTGTATACATTAAGCATATCTAAATAAATTCTTCCAAGCTGAATTACAAAGGGGTGTCCAACAGCTTTGCAGGCTCTCACATTTGTTTTCAAAATGCTACCAAGCTGCTTGACTGTTTCAGGATCTTTCAGTATATCCACATTCTTGGAGGAAAAAAAGCAAATTCCATTTATCATATAAGAATTATCCACGGCTGGGAACAGTGGCTCACGCCTGTAATCCCAGCACTCTGAGAGGCCGAGGCGGGCGGATGATGAGTTCAGGAGATCGGGACCATCCTGGATAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATAGCCAGGCGTGGTGGCAGCCGCCTGTAGTCCCACCTACTCGGGAGGTTGAGGCAGGAGAACGGCGTGAACGCTAGAGATGGAGTTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGAAAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAGAATTATCCATCATAATGGCCAGGCGAGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGTCGGGTGCATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCACAATGGTGCTTGCTTGTAATCCCAGCCACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCTCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCCGGGCACCAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAATCCACATAATTACCAAAGCAAAAGCCATTACGCTTCCCTTACCCTAAACCATATTTATAATCCCAAATGGTAAAAACGAACACAAACGCCTTTTTGTCTACATCTACTTAAGAATGAAGTAATATAGTTCTATTTTTTTTTTTTTGGGACGGAGTCTCGTTCTGTTGCCCAGGCTAGAGTGCAGCGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTTACAGGCGCCCGCCGCCACACTCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTG-C		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61488185-G-A		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61488207-C-T			Likely benign (Apr 01, 2022)
2-61488243-A-C		not specified	Uncertain significance (Jan 23, 2024)
2-61488631-G-A			Benign (Jun 13, 2018)
2-61488644-A-C		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61488648-C-A		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61490643-T-G		not specified	Uncertain significance (May 19, 2025)
2-61490664-C-T		not specified	Uncertain significance (Apr 05, 2025)
2-61490712-T-A		Seizure	Uncertain significance (Apr 20, 2023)
2-61490715-T-G		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61492034-C-A		XPO1-associated Neurodevelopmental Disorder	Pathogenic (Jul 21, 2025)
2-61492047-A-C			Likely benign (Dec 31, 2019)
2-61492336-T-A		Prostate adenocarcinoma • Breast neoplasm • B-cell chronic lymphocytic leukemia • Malignant neoplasm of body of uterus • Neoplasm of the large intestine	Likely pathogenic (May 31, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP