GNAO1-DT

GNAO1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:55984009-56194518

Links

ENSG00000246379 ∙ NCBI:283856 ∙ ∙ HGNC:27543 ∙ ∙ ∙ 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 GNAO1-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNAO1-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				1	1	2
Total	0	0	0	1	1

Variants in GNAO1-DT

This is a list of pathogenic ClinVar variants found in the GNAO1-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
16-56191028-G-A			Likely benign (Sep 29, 2018)
16-56191113-G-A			Benign (Jul 21, 2018)
16-56191124-G-A			Benign (Jul 31, 2018)
16-56191213-G-C			Likely benign (Aug 21, 2019)
16-56191219-G-T			Benign (Jul 26, 2018)
16-56192239-G-C		Neurodevelopmental disorder with involuntary movements	Likely pathogenic (Aug 17, 2023)
16-56192243-G-A		Developmental and epileptic encephalopathy	Uncertain significance (Aug 11, 2024)
16-56192244-T-C		Developmental and epileptic encephalopathy	Likely benign (Feb 27, 2023)
16-56192252-G-T		Developmental and epileptic encephalopathy, 17	Pathogenic (-)
16-56192256-A-G		Developmental and epileptic encephalopathy	Likely benign (Jan 27, 2025)
16-56192256-AGAG-A		Developmental and epileptic encephalopathy	Uncertain significance (Sep 23, 2024)
16-56192259-G-A		Developmental and epileptic encephalopathy	Likely benign (Apr 24, 2020)
16-56192262-G-A		Developmental and epileptic encephalopathy • Inborn genetic diseases • GNAO1-related disorder	Likely benign (Jun 01, 2025)
16-56192268-C-T		Developmental and epileptic encephalopathy	Likely benign (Oct 22, 2024)
16-56192271-C-T		Developmental and epileptic encephalopathy	Likely benign (Dec 06, 2022)
16-56192273-T-C			Likely pathogenic (Jul 01, 2020)
16-56192289-G-A		Developmental and epileptic encephalopathy	Conflicting classifications of pathogenicity (Oct 16, 2023)
16-56192291-T-A		Developmental and epileptic encephalopathy	Uncertain significance (Nov 11, 2024)
16-56192292-T-G		Neurodevelopmental disorder with involuntary movements;Developmental and epileptic encephalopathy, 17 • Developmental and epileptic encephalopathy, 17	Likely pathogenic (Feb 09, 2023)
16-56192293-G-A		Developmental and epileptic encephalopathy • Inborn genetic diseases	Conflicting classifications of pathogenicity (Aug 22, 2022)
16-56192301-C-T		Developmental and epileptic encephalopathy	Likely benign (Sep 12, 2017)
16-56192302-C-T		Developmental and epileptic encephalopathy	Uncertain significance (Oct 07, 2022)
16-56192310-G-A		Developmental and epileptic encephalopathy	Likely benign (Oct 30, 2024)
16-56192311-G-A		Developmental and epileptic encephalopathy	Uncertain significance (Aug 16, 2022)
16-56192319-C-T		Developmental and epileptic encephalopathy	Likely benign (Feb 05, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP