SNHG14

small nucleolar RNA host gene 14, the group of Small nucleolar RNA non-coding host genes

Basic information

Region (hg38): 15:24978583-25420336

Previous symbols: [ "UBE3A-AS1" ]

Links

ENSG00000224078 ∙ NCBI:104472715 ∙ OMIM:616259 ∙ HGNC:37462 ∙ ∙ ∙ 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 SNHG14 gene.

• Angelman syndrome (547 variants)
• not provided (257 variants)
• Inborn genetic diseases (67 variants)
• not specified (65 variants)
• UBE3A-related condition (10 variants)
• Intellectual disability (6 variants)
• See cases (4 variants)
• - (2 variants)
• Epileptic encephalopathy (1 variants)
• Developmental disorder (1 variants)
• Neurodevelopmental disorder (1 variants)
• Developmental delay;Intellectual disability (1 variants)
• Autism (1 variants)
• 6 conditions (1 variants)
• Normal pregnancy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG14 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	172	63	282	206	32	755
Total	172	63	282	206	32

Variants in SNHG14

This is a list of pathogenic ClinVar variants found in the SNHG14 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-24986947-T-A			Uncertain significance (Oct 01, 2023)
15-25175830-CTAGCTGTTGGACTCGTGGGCTTTGGGCCAGTGGGGCAGCCTGCATCCCTCTGGAAGTCACCCCTTCCCTGTGGCTGGAAGTTACCCCTTCCCAGTGGGCGAATGTGGGGAAGGGTCACCTCCTGAAGTGAGAAGGCCCACTATTGAGGGTCCTGTCCTGGCAATTTGCTGCCCATGCTGCTTCTGAGCCATGGAGACACCTCCAGTGTGGTGGGATCTTGGGCCCAAGGAAGGGAGAAGACACTGTGCCCCCCGATTAGCTGAGTGTGGCCAGGCTGTGTGTTTATGAGGTGTGAGGGGCATGGATGGAAACTCACCAGAGAAAGCATGTGGCCCTGGGACCCCAGGTCGTGGTTTCCAGTATGTGCCCAGATACAGCACATGGGTGGGTGCCCACCATGCACAGGGACTGGCTATGTGACTGCCAGCTGTGCAGCAGCATCAGGCATATGGGCCAGCCTCCTTGGTTGACAATGAACTGGTTGCTGGCCCTGGCCTGTGCCCAGTAGTCCTGGGGTGACCCTGGTGTCATACAGGGGAGCTGGCATGTGTAGTGGAGGTGCTTGTGGGGCTTGCAGTAGGGCACAGCCCTGGCTTCTAGCCTGAGCCCAGTGACCTGCCTGTCCTATCCTTTCGGTGTTCAGTGGCGGAGAGAGCATTGGGTGCCCTGCATCCATGATGGGTAAGTATTCCACATGGATCTCATCACATGGGTCCATGGAAGGTGAGCATCCCTGAGCTGGCACACCACACCTTCTGTCCACATGGAGGGGTGAGGTTGTGTTTGGGCACTTGTCCTCTTCCTGTTCCTTGAGATGGTGACCCCAGAGGAGGACATGCGTTGGGCCCGCTGTCCCTGGCCAGTGGCCATCAGCCAAGTGCCTAGCCCCTATTGCACTGAAACTCGGGCCCTTCCTGTCACCTTGGTCTCCTGCGTTGAGCTTGGGTGAGCCCATCCGGGTGCCACTGGATGCCTAGGCAGGGAGGGGGGTGCCCTGGGTTGGGTCGATGATGAGAACTTTATATTGTTCTGAAGAGAGGTGATGACTTAAAAATCATGCTCAATAGGATTACGCTGAGGCCCAGCCTAGGTGAGAATTTTGGAAGGGGACACTAGAATCCCGAGGTCCCCAGCAGGGCTGCTGTATTTTAGGCTGGATACCTCGAGGCCCTGAAGGGCACCTCATGGAGGGGCCCAATCCTGTCTGTGCTCCTCTATTAGGCACACCAGACTTTCTGTGTGGGCTTGGTGTCCACGCTCAGCTTCCCTGGGGTGGGACACGTTGGCGGCTCCTCCGTGAGCCCCATTATCCTCTGTGTCTTTCAGTGAGCTCTTCCCCCCAGCAGACCCCTGGGATTGACGAGCATAGGTGAGTGGAGACTGCTGGTGTCATGGGCCATGAGCCAAGCTGCGTGGGGTCCCCAAGGGTCAGCCCTCGGGCCACCTGGGTTTCCTCAGGAGCTGATCTGAATCCCAACTGGGGATGTGTTCTCCAGGAGGGCAGCTTCCTTGGGAATCAGACATAAGGAGGAGGCCTTCTCTGAAGCCCCGCAGGGGTGGCAGTTGTCCAGGCAGGAAAGGGTTTCCTCAGCCCCACGCAGGGCAGTGCTCAGCTCAGACTTGGTGCTTGGGTCAGGCCTCTAACATGGCCAGGCCACATGAGGGGGGCAACAAGGGCTCCGGGGAGCCAAGGGCATCTCACGGGGGCTCTCCAACCCTGGAGAAGGGTGGGTGATTCGGTCCATGGGGTCAGGCCATGGAGATTCATGGATTGCAGCAAACCCAGGACCCTCAATGGGACTGACCCTATAAGCAGTGGGCCCTCCCAGTGGCACCTCTTTGAGCCATTTGTGGGGCGGCGCTGTTTCTCTGAGGTTGGGTCAAGACTAGCTCTGGCCAGTGCCTGATGGTGGTGCAATCCACTCCTGGGACTCGTGGGCTCTGGGCCAAGGCTGCAGCCCATGTCCCGCTGGGGGTCACCCCTTCATTGTGGGCGAGTGGCAGTAATGGCCTCCTGAGTTGGGAAGGCCCGCAGTGGAAGGACCTTTCCTGGAAATTTGCAGTCCAGGCTGCTTCTCAGCCATTAGGACAACTCCAGCGGGTTGGGGGGCAGGGGCGGGTCTTAGGCCCAAAGAAAGGAGAAGATACCATATGTCTCCCGGTTGGCTGAGTGTGGCCCTGCTGTGTGTGTGGGAGGTGTTGTGTGGGGCATGGATTGGGACACACCAGAGAAAGCTTGTGGCCCTGGAGCCCCAGGCTGCGATTTCCAGTGCACCTTGAGGAAAGGAGGGTGGGTGCCCTCCATGCACAGGGCAGACTGTGCAACTGCCAGGTAGGCAACAGCACGTGGTGTCCGGGCCAGGGTCCTTGGTTTGCTGTGAGCTCTTTGGTGTCCGTGGCCCCTACCCAAGGATCCAGATACCACCCGGGGTCATGCAGGGGAGCTAGCATGGGCAATGGAGGTGCTCAAGGGGCCTGCAGTAGGGCACAGCCCAGGTGTCTTGCCTGAGCCCAGGAACCCACCTGCCCTGTCCTTCCATGGTTCAGTGGCTGGGAGAGCAAAGGGTTCCGCTGATCTATGACACATCAGTGTTTCCCATGGATCCCATCACATGGGTCCACGGAGAGAGAGCATGTGTGAGCTGGCACCCCCAACCCCATTCCCTGTATGGAGGCGTGAGCCCATGGTTGGACACATGTCCTCCTCCTGTCCCCCCAGATGGTGACTGTGGAAGAAGACTTGCTTTGGGACCGCTGGCCCCAGGCCAGTGGTTGTCATCCAGGTGCCCAGCCCTTGGTGCACTTGAGCTCAAGCCCTTCCTGGTGCCCTGGCCTCCTGCCCTAAGCTGTGGTGAGCCCATCCAGGTCCCACTGGATGCATGCATGGGGAGGAGGGTGCCCTGGGTTGGATCGATGATGAGAACCTTATATTGTCCTGAAGAGAGGTGATGACTTAAAAATCATGCTCAATAGGATTACGCTGAGGCCCAGCCTTGGTGAGAATTTTGGAAGAGGATGCTGAGATCCCAAGGTCTCTGGCAGGGCCACTGTATTTTGGGCTGGAGACCTGGAGGCCCTGAAGGGCATCTTAGGGGTGCCCGACCCCATCTCTGCGCTCCTCCTTGAGGCAGCCCAGGCTCCCTTGCGGGCTTGGTGTCAGCCCTCCAGTTCCCTGGGGTTGAGGCACATTGGAGGCTCCTTCCTGAGCCCCCATTCTCCCCTGTGTCTTTCAGCGAGCTCTTCTGCCCAGGGGGACCCCTGGCCTTAAGTGGGATAGGTAAGTGGATCCTGCTGGGGTCGTGGACCATGAGCCAGGTCGCTTTGGGTCACTGAGAGTCACCCTTCAGGCCACGAGGGATTCCTCAGGGAGCCCATCTGAAACCCACCAGGGACGGATGGTTTCTCCAGGAGGACAGCTTCCTTGGAAGTCGGTCCCAAGAAGGATGCCTTCCCTGAAGCCGTGCAGAGATGATGGACGTCCAAGCAGGAAGGGCTTCCTTCAACTCAATGCAGTGCACATCCTAGCTGAGACTCAGTGCACAAGTCAGGCCTGGAGGACTTCCCAGGCCACATGAGGGGGTCCACAGGGTCTCCAGGGGCCACGGGTGTTATGAGGGTGCTCTCTGTCCCCGAGGCTTGCAGAGGGGCAGGGTGTGGGTGATCGGACTTATGGAGTCAGGCCGTGAAGATTCAAGGATTGGGCCCAACCCATGGCCCAGCATGGGCCGAACCTGTAGAGCAATGGGCCATCCCGGTGGTGCATCCTTGAGCCTTGTGGGGGTGGTGTGACCTTAGTGGGGTTGGGTCAAGCCTGAGCTCTGGCCTTCACCTGGTGGTGCTGCAGGCTGGCCCTGGGAATTTGGGCTTTGGGCCAAGGGTGCAGTCTGTGTCCCGCTAAAGGTCACCCCTCCCCAAAGTGGAGTGGCCAGAAGGATGGCATCCTGTGGTAGAAGTCCCACTGTCAAGGGTCCTGTCCTGGCAATTTGTTGCCCAGGCTGCTTCTAAGCCATGGGTTCACCTCCAAAGTGGCGGGGTCTTGAGCCGAAGGAAAGGGGAAGACATCATGTGTTCCCTGATTGACTGAGCATGGCCTGGCTCTGCATTTGGAGGTGTGCGGTGCACGAATGGGGACCCATCAGAGAAGGCATGTGGCCCTGGGGCTCCAGGATTTGATTTCTGGTGTGAGCTTTTACAGGGGGTCTGTAGTGGCACGTAGCATTCAGGTCAGCCTACTTGGTTTGCTCTGAGCTTGTTGGTGGTCCTGGCCCTGCCCAGTGGTCCCATTGTGGCATAGAGTCATGTGAGGGAGCTGTGGCAAGGAGGGCCAAGGGTTCCCCACATTCATGATCGTTACTGTTTACATGGATCCCATCTCTTGAGTCCATGGAGGGACAGCATGTGTGAGCCAGCACCCCCTGCCCACTTTCCTGCATGGAGGCGTGAGGCCGTATTTCTATACGTGTCCCCCACCCCTCCAGATGGTGACCCCAGAGGAAGACGTGCATTGGGTCCGCTGGCCCCAGGCCAGTGTCTCTCAGCCATGTGCTCAACACCTGGTGAGCTGAAGCTCAGGCCCTTCCTGGCATCCTGGTCTCCTGCACTGAGCTGTGGTGAGCACATCTGGGTTCCTCTGGATACGTGTGCAGGGAGGGGGATGCACTGGGTCGGGTCAATGATGAGAACCTTATATTGTTCTGAAGAGAGGTGATGACTTAAAAATCATGCTCAATAGGATTACGCTGAGGCCCAGCCTAGGTGAGAATTTTGGAAGAGGATGCTGGGATCCCAAGTTCCCCAGCATGGCCAGTATATTTTAGGCAGGAGACCCTGAGGCTCTGAACGGCATCTCCGGGGGGCACAACCCTGGCTCTGGGCTCCTCTGGGAGGCAGCCCAGGTTCCCTGTGCAGGCTTGGGCTCTGGTTCCCTGAGCCCCCATTCTCCCTCGTGTGTTTCAGTGAGCTCGTCCTCCTAGGTGGGGCCCCCAGGCATTGACCGGCATAGGTGAGTGGTCCTGCTGGGGTCATGGGTCATCAGCAGGTTGGAGTCACCAAGGGTCAGCCTTTGAGACAGGAGGGTTTCCACAGGCAGCCGACCTGAATCCACACCATGGAGGGATAGATTGGTCCTCCAAGAGGGCTGTTTTTTTTCGGAATCAGACCCAAGGAGGATACCTTCCCTGCAGCCCTGCGGGGATGACGGTGGTCCAGGCAGGGAAGGGTTCCTTCAGTCTCACGCAGGTCAGCTCCCAGCTGAGTCTCAGTGCATTGGTCTGGCCTCCAGGACTGACCAGGCCACGTGAGGGGGGCAACAGGGGCTTCGGGATGCAGTGGGGTCACACAGGATCTCTCCATCCCCAGAGAAAGGTGGGCATAGAACCCATGGATTCGAGCTGCAGAGATTCAAGAATCGCACACGAATTATTGCCCTGAATGGGACCCACCCTGTTGAGCAATGTCCCATCCCAGGGCACCTCTTTGAGCCTGAAGGGGGTGGTGCTGTTTCCCTAGGTTTGGGTCAAGGCTGAGCTCTGGCCAGTGCCTGGTGGTGCTGTAGTCCTGTCATGGACTCGTTAGCTTTACGCCAAGGGGTCAGCCCACGTCCTACTGGGGATCTCCCCTTCCCTGTGGCTGGAAGTCACCCCTTCCCCATTGGCAAGTGTCAGGAAGGGTGACCTCCTGAGGTGGAAGTCCTGTTGAGGGTCTTGTCCCTGGAATATGCCACGCATGCTGCTTCTGAGCCATGGGGTCACCTCCAGGGTAGCGGGTCTTGGGCCCAAGGAAAGGAGAAGTCACCATGTGTCCCCCGATTAGCCAAGTGCGGCCCTGCTCTGTGTTTAGGAGGTGTGTGGGGCATGGATGGGGACCCACCAGAGAAAGCATGTGGCCCAGGGACCCCAGGTTGCAATTTCTAGGACATGCTGGGATAGGGCACCTGTGTGGGTGTCCACAGTGCACAGGGATAGGCTATGTGACTTGCAGGTCTGCAGCGGCATCTGGCATCCAGGCCAGCCTCCTTGGTGGGCCGTGAACTGAATGGTGGCGCTGGCCTGTGCCCAGTATATCTGGTATGACCCTGGGGTCGTGTGGGGGAGCCGGCATGGGCAGTGGAGGTGCTTATGGGACCTGCAGTAGGACACAGTCGGGGCTTCTTGCCCAAGCCCAGTGACCCGCTTGCCCTGTCCTTCCAGGGTTCGGTGGCTGAGAGAGCTTTTGTTGCCCTGTGTCCGTGACGGGCCAGTGTTCTGCATGCATCCCATCACATGGATCCATGGAGGGTGAGCATCCCTGGGCTGACACACCCCACCTTCTGCCCCCATGGAGGGGTGAGGTTGTGTTTTCACACCTGTCTTACTCCTGTTTCCCCAGATGTTGAGCCCAGAGGAAGACTTGCACTGGGCCCAATGGCCCCAGGTCAGCGTCCATCAGCCAGGTGTCCAGCCCCTGGTGCACTGAAGATCGGGCCCTTCCTGGTGCCCTGGTCTCCTGCATTGAGCTGTGGTGAGCACATCCGGATCCTGCTGGATGCGTGTGCGGGGAAGGGGGTGCCCTGGGTTGGGTCAATGAGAACCTTATATTGTCCTGAAGAGAGGTGATAACTTAAAAATCATGCTCAATAATAGGATTACGCTGAGGCCCAGTCTAGGTGAGAGGTTTGGAAGAGGATGCTGGGATTCCGAGGTCCCCAGGAGGGCCCCTGTATTTTTGGCTGGAGACCTGGAGGCCCTGAAGGGCATCTTGTGGGTGCCCAACCCTGTCTCTGCGCTCCTCCTTGAGGCAGCCCAGGCTCCCTGTGCAGGCTTGGTGTCAGCCCTCCAGTTCCCTGGGTTTGAGGCACATGGGAAGCTCCTTTCTGAGCCCCGTTCTCCTCTTGTGTCTTTCAGTGAGCTCTTCCACATGGAAGACCCCTGTCATTGACTGGCATAGGTGAGTGGCTGGCATCATGGGCCATGAGCCAGGCCGCGTGAGGTCGCCAAGGGTCAGCCTTCGGGAAAGAAGGGTTTCCTCAGGGAGCCAACCTGAATCCCCACTGGGAAGATATGGGTTCTCCAGGAGGGCGACTTCCTGGGAAACAAGAACCAAGGAGGTCCCCTTCCCTGAAGCCCTGCAGGGGTGACGGTGGTCCAGGCAGGAAAGGGTTCCTTCAGTTCCACCCAGGGCAGCTCCCAGCTGAGGCTCGGTGCTTGCGTCTGGACTTAAGGACTGCCCTGGCCATATGAGGGGTGCCACAGTGGCTCTGGGGTGCCATGGGGTCACACAGGCACTCTCTGTCCCTGGAGAAAGGTGGGTGATTGGGCCCATGGAGTTGAGCTGTTGAGATGCAAGTTTTGCACCTGACACATGGCCCTGAATGGGACCCACCCTGTTGAGCAATGGGCCATCCCATGGGCCTCTTCGAGCCTGAAGGGGGGCGGTGCTGTTTCACTGGGTTTAGGTCAAAGCTGACCTCTGGCCGCCACCTGGTGGTGCTGCAGTCCAGCCCTTGGACTCGTGGGCTTTGGGCCAAGGGGGCAGCCTGCATCCCACTGAAAGTCACCCCTTCCCTGTGGCTGGAAGTTATCCCTTCCTCATGGGCGAGTGTTGGGAAGGGTGGCCTCCTGAAGTGGGAAGGCCCGCTATTGAGGGTCTGCTCCTGGCAATTTGCTGCCCATGCTGCTTCTGAGCCATGGAGTCACCACCAGTGTGGTGGGGTCTTGGACCCGAAGAAAGGAGAAGACACTGTGCCCCCCGATTAGCTGAGTGTGGCCAGGCTGTGTGTTTGCGAGGTGTGAAGGGCATGGATGGAGACTCACCAGAGAAAGCATGTGGCCCTGGGGCCCCAGGTTGTGGTTTCCAGTATGTGCTTGGATATGGCATATGGGTGGGTGCCTACCATGCACAGGGACTGGCTATGTGACTGCCAGCTGTGCAGCAGCATCAGGCATACGGGCCAGCCTCCTTGGTTGACCATGAACTGGTTGCTGGCCCTGGCCTGTGCCCAGTAGTCCTGGGGTGACCCTGGTGTCATGTAGGGGAGCTGGCATGTGTAGTGGAGGTGCTCGTGTGGTCTGCAGTAGGGAGCAGCCCTGGCTTCTAGCCTGAGCCCAGTGACCTGCCTGTCCTGTCCTTTCAGGGTTCAGTGGCGGAGAGAGCATCAGGTGGCCCACGTCTGTGATGGGCCAGTATTCCACATGGATCTCATCACATGGGTCCATGGAAGGCGAGCATCCCTGAGCTGGCACACCCCACCTTCTGCCAGCATGGAAGGGTGAGGTTGCATTTGGCACCTGTCCTCTTCCTGTTCCTCGAGATGGTGACCCCAGAGGAGGACTTGCATTGGGCCCACTGTCCCCGGGCCAGTGGCCATCAGCCGGGTGCCTAGCCCCTGTTGCACTGAAGCTCAGGCCCTTCCTGTTGCCCTGGTCTCCTGCATTGAGCTTGGGTGAGCCCATCCGGTTGCCACTGGATGCCTAAGCAGGGAGGGGGGTTCCCTGGGTTGGGTCAATGATGAGAACCTTACATTGTTCTGAAGAGAGATGATGACTTAAAAATCATGCTCAATAGGATTACGCTGAGGCCCAGCCTAGGTGAGAATTTTGGAAGAGGACGCTGGGATCCCTAGGTCCCTGACAGGGCCACTGTATTTTGGGCTGGAGACCTGGAGTCCTTGAAGGGCATCTGGAGGGGGCCCAAACCTGTCTCTACGTTCCTCCATGAGGCAGTCCAGGCTCCCTGTGCGAGCTTCGTGTCGGTGCTCAGATTCCCCTTGGTGGTGCATGTGGGTGGCTCATCCCTGAGCCCCTGTTCTCCCCTTGTGTCTTTCAGTGAACTCGTTTGCCCAGGAGGACCCCTGGCCTTGAGCAGCATAGGTCAGTGGATCCTACTGGGGTCATGGGCCATGGACCAGGCCACGTGGGGTCACTGAGGGTCAGCTATCAGGACAGGAGGGATTCCTCAGGGAGACAACCTGAATCCCCACTGGTGAGGGATTGGTTCTCCAGAAGGGCCGCCTCCTTGGGAATCTGACCCAAGGAGGACACCTTCCCTGAAGTGCTACAGGAGTGACATTGGTCCAGGCAGGAAAGGGTTCCATTAGTCCCATGCAGGTCAGCTCCCAGCTGAGACTTGGTGCTAGGGTCTGGCCTTGAGGACTGCCCAAGCCACATGAAGGTGGCCCCAGGCTGTGATTTTTGGTGCGTGCTTGGAGAGGGAGTCTGGGCACCCTCCCTGCACAGGGGCAGGCTGTGCGTCTGCCAGGTCTACAGTGGCGCCTAGCTTCAGAGCAAGCT-C		Normal pregnancy	not provided (-)
15-25278417-C-T			Likely benign (Mar 01, 2024)
15-25338938-T-C			Likely benign (Sep 15, 2019)
15-25339053-A-ATCCC		Angelman syndrome	Pathogenic (Jun 15, 2004)
15-25339090-CT-C		Angelman syndrome	Uncertain significance (Feb 14, 2014)
15-25339101-CTTCCTTTTTTTTGT-C			Likely benign (Aug 01, 2024)
15-25339114-G-T			Benign (Mar 06, 2020)
15-25339119-ATTTTG-A		Angelman syndrome	Likely benign (Jul 14, 2017)
15-25339119-ATTTTGTTTTG-A			Conflicting classifications of pathogenicity (May 30, 2018)
15-25339119-ATTTTGTTTTGTTTTG-A			Likely benign (Dec 03, 2021)
15-25339124-GT-G			Likely benign (Jan 30, 2018)
15-25339124-GTTTTGTTTTGTTTTA-G			Likely pathogenic (Oct 23, 2020)
15-25339130-TTTTGTTTTAC-T		Angelman syndrome	Pathogenic (Feb 22, 2016)
15-25339133-T-C		Angelman syndrome	Uncertain significance (Jun 15, 2023)
15-25339138-T-A		Angelman syndrome	Pathogenic (Feb 14, 2014)
15-25339138-T-C		not specified • Angelman syndrome • UBE3A-related disorder • Inborn genetic diseases	Benign (Aug 01, 2024)
15-25339141-AGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG-A		Angelman syndrome	Pathogenic (Feb 14, 2014)
15-25339142-G-A		Angelman syndrome	Likely benign (Aug 06, 2021)
15-25339147-C-T		Angelman syndrome	Conflicting classifications of pathogenicity (Jan 15, 2014)
15-25339148-C-CA		Angelman syndrome	Pathogenic (Feb 08, 2013)
15-25339152-T-A		Angelman syndrome	Likely benign (Aug 05, 2022)
15-25339151-A-ATCCTT		Angelman syndrome	Likely pathogenic (Sep 01, 2021)
15-25339158-G-A		Inborn genetic diseases	Likely benign (May 31, 2017)
15-25339159-GC-G			Likely pathogenic (Nov 30, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP