SNHG22

small nucleolar RNA host gene 22, the group of Small nucleolar RNA non-coding host genes

Basic information

Region (hg38): 18:49813944-49851059

Links

ENSG00000267322 ∙ NCBI:103091864 ∙ ∙ HGNC:50285 ∙ ∙ ∙ 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 SNHG22 gene.

• not provided (203 variants)
• Congenital microvillous atrophy (183 variants)
• Inborn genetic diseases (17 variants)
• Diarrhea with Microvillus Atrophy (12 variants)
• MYO5B-related condition (3 variants)
• not specified (2 variants)
• Congenital microvillous atrophy;Cholestasis, progressive familial intrahepatic, 10 (1 variants)
• Cholestasis, progressive familial intrahepatic, 10;Congenital microvillous atrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG22 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	5	1	250	79	50	385
Total	5	1	250	79	50

Variants in SNHG22

This is a list of pathogenic ClinVar variants found in the SNHG22 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-49822831-T-C		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49822927-G-A		Congenital microvillous atrophy	Uncertain significance (Mar 30, 2018)
18-49823043-A-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823048-C-A		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823080-T-C		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823090-C-G		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823092-T-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823103-C-G		Congenital microvillous atrophy	Benign (Jan 13, 2018)
18-49823106-A-G		Congenital microvillous atrophy	Uncertain significance (Jan 15, 2018)
18-49823107-T-C		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823114-C-T		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823120-T-G		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823129-G-C		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823130-A-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823132-A-ACTTT		Diarrhea with Microvillus Atrophy	Uncertain significance (Jun 14, 2016)
18-49823154-G-A		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823156-A-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823171-T-C		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823176-A-AT		Diarrhea with Microvillus Atrophy	Uncertain significance (Jun 14, 2016)
18-49823179-A-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823189-C-T		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823198-C-G		Congenital microvillous atrophy	Uncertain significance (Jan 12, 2018)
18-49823198-C-T		Congenital microvillous atrophy	Benign (Jan 12, 2018)
18-49823232-T-C		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)
18-49823251-G-A		Congenital microvillous atrophy	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP