RAB23 Chromosome 6

RAB23, member RAS oncogene family

33 variants 33 Health Risk

Upload your DNA to see your personal genotypes for variants in RAB23.

What This Gene Does

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Gene Info

Gene Group

RAB, member RAS oncogene GTPases

Locus Type

gene with protein product

Location

6p12.1-p11.2

Ensembl

ENSG00000112210

Associated Conditions (6)

RAB23-related Carpenter syndrome

Carpenter syndrome

RAB23-related disorder

Inborn genetic diseases

See cases

Clear cell carcinoma of kidney

Key Variants

RS1380069219

Conflicting classifications of pathogenicity

Health Risk

RS142290596

Conflicting classifications of pathogenicity

Health Risk

RS150440590

Conflicting classifications of pathogenicity

Carpenter syndrome, RAB23-related disorder, Inborn genetic diseases

Health Risk

RS201735614

Conflicting classifications of pathogenicity

Health Risk

RS376839366

Conflicting classifications of pathogenicity

Health Risk

RS556931606

Conflicting classifications of pathogenicity

Carpenter syndrome, RAB23-related Carpenter syndrome, Carpenter syndrome

Health Risk

RS751619487

Conflicting classifications of pathogenicity

Carpenter syndrome, RAB23-related Carpenter syndrome, See cases

Health Risk

RS759408401

Conflicting classifications of pathogenicity

Health Risk

RS767442221

Conflicting classifications of pathogenicity

Carpenter syndrome, RAB23-related Carpenter syndrome, RAB23-related disorder

Health Risk

Health Risk

Carpenter syndrome, Carpenter syndrome

Health Risk

RS2127998544

Likely pathogenic

Carpenter syndrome, Carpenter syndrome

Health Risk

All Variants (33)

RSID	Category	Clinical Significance	Conditions
RS1380069219	Health Risk	Conflicting classifications of pathogenicity	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related Carpenter syndrome
RS142290596	Health Risk	Conflicting classifications of pathogenicity	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related Carpenter syndrome
RS150440590	Health Risk	Conflicting classifications of pathogenicity	Carpenter syndrome, RAB23-related disorder, Inborn genetic diseases
RS201735614	Health Risk	Conflicting classifications of pathogenicity	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related Carpenter syndrome
RS376839366	Health Risk	Conflicting classifications of pathogenicity	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related disorder
RS556931606	Health Risk	Conflicting classifications of pathogenicity	Carpenter syndrome, RAB23-related Carpenter syndrome, Carpenter syndrome
RS751619487	Health Risk	Conflicting classifications of pathogenicity	Carpenter syndrome, RAB23-related Carpenter syndrome, See cases
RS759408401	Health Risk	Conflicting classifications of pathogenicity	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related disorder
RS767442221	Health Risk	Conflicting classifications of pathogenicity	Carpenter syndrome, RAB23-related Carpenter syndrome, RAB23-related disorder
RS2127997645	Health Risk	Likely pathogenic	RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome
RS2127997697	Health Risk	Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS2127998544	Health Risk	Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS2533178301	Health Risk	Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS2533214937	Health Risk	Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS373724159	Health Risk	Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS1060505026	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS121908171	Health Risk	Pathogenic	RAB23-related Carpenter syndrome, Inborn genetic diseases, Carpenter syndrome
RS1438138090	Health Risk	Pathogenic	RAB23-related Carpenter syndrome, RAB23-related disorder, Carpenter syndrome
RS1593223800	Health Risk	Pathogenic	RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome
RS1593223920	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS1765602287	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS1765608519	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2127997677	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2127998022	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2127998616	Health Risk	Pathogenic	RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome
RS2128004184	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2533178365	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2533178474	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS2533178501	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS762512079	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS780393504	Health Risk	Pathogenic	Carpenter syndrome, Carpenter syndrome
RS1049674573	Health Risk	Pathogenic/Likely pathogenic	Carpenter syndrome, Carpenter syndrome
RS765443042	Health Risk	Pathogenic/Likely pathogenic	RAB23-related Carpenter syndrome, Carpenter syndrome, RAB23-related disorder