Basic information Region (hg38): 20:36507702-36573410
Links ENSG00000232907 NCBI:101926987 HGNC:51223 GenCC jax Sfari GnomAD Pubmed ClinVar Phenotypes GenCC Source: genCC
No genCC data.
ClinVar This is a list of variants' phenotypes submitted to ClinVar
Inborn genetic diseases (13 variants) not provided (4 variants) Visceral myopathy 1 (2 variants) Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (1 variants) Variants pathogenicity by type Statistics on ClinVar variants can assist in determining whether a specific variant type in the DLGAP4-AS1 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 15 2 1 19 Total 0 1 15 2 1
Variants in DLGAP4-AS1 This is a list of pathogenic ClinVar variants found in the DLGAP4-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position Type Phenotype Significance ClinVar 20-36524272-T-C Benign (Dec 31, 2019) 769088 20-36525995-G-C not specified Uncertain significance (Oct 03, 2023) 3082863 20-36526830-C-T Likely benign (Jun 15, 2018) 753648 20-36526831-C-A not specified Uncertain significance (Apr 14, 2022) 2225813 20-36526835-C-T not specified Uncertain significance (Jun 12, 2023) 2524571 20-36526837-G-T not specified Uncertain significance (Apr 25, 2023) 2540047 20-36526866-G-A Likely benign (Mar 01, 2022) 2652299 20-36526876-C-T not specified Uncertain significance (Jul 26, 2022) 2207694 20-36526885-G-A not specified Uncertain significance (Jan 25, 2023) 2470017 20-36545018-G-A not specified Uncertain significance (Jan 26, 2023) 2479893 20-36545063-CGCTGGGTGA-C Visceral myopathy 1 • Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 Uncertain significance (Feb 26, 2020) 818204 20-36548060-G-C not specified Uncertain significance (Dec 08, 2023) 3159626 20-36548137-C-T not specified Uncertain significance (Feb 27, 2023) 2456943 20-36548145-G-A not specified Uncertain significance (Jan 26, 2022) 2379836 20-36548163-G-A not specified Uncertain significance (Aug 13, 2021) 2351120 20-36548173-G-C not specified Uncertain significance (Nov 18, 2022) 2328036 20-36548178-G-A not specified Uncertain significance (Apr 15, 2024) 3297582 20-36548743-GTGGAACTCCAGAGCTCACGCTTAAAACAGGGCACACCCAACACCATCTGTGTGCACAGCCTCAAGTTCCCCAAGTGACACCTCGGAGACAGTCCCACTGCACAACTCCTCCCCTCAGGACCCTGGCACCCCTTCACGTGGGATCCGACACCCCTTCACGTGCACCCCCACACCCCTCCTGCCACGTCCTCATTCCTCAGACTGACCAGAGACTAAGATTGTATCTTCCCAGCCCCTCTAGGTCTGCAAGAGCTGCCAGGGGGCTGAGGGATGGGGCTGCTGTGTATGTCTCAGCCCAAGTTCCTGCTCTCACCCACCCTGCCCCTGCCCGCAGGTTTCATCCATGAGGACCACCTCCGGGAGCTGCTCACCACCATGGGTGACCGCTTCACAGATGAGGAAGTGGACGAGATGTACCGGGAGGCACCCATTGATAAGAAAGGCAACTTCAACTACGTGGAGTTCACCCGCATCCTCAAACATGGCGCCAAGGATAAAGACGACTAGGCCACCCCAGCCCCCTGACACCCCAGCCCCCGCCAGTCACCCCTCCCCGCACACACCCGTCCATACCAGCTCCCTGCCCATGACCCTCGCTCAGGGATCCCCCTTTGAGGGGTTAGGGTCCCAGTTCCCAGTGGAAGAAACAGGCCAGGAGAAGTGCGTGCCGAGCTGAGGCAGATGTTCCCACAGTGACCCCAGAGCCCTGGGCTATAGTCTCTGACCCCTCCAAGGAAAGACCACCTTCTGGGGACATGGGCTGGAGGGCAGGACCTAGAGGCACCAAGGGAAGGCCCCATTCCGGGGCTGTTCCCCGAGGAGGAAGGGAAGGGGCTCTGTGTGCCCCCCAGGAGGAAGAGGCCCTGAGTCCTGGGATCAGACACCCCTTCACGTGTATCCCCACACAAATGCAAGCTCACCAAGGTCCCCTCTCAGTCCCCTTCCCTACACCCTGACCGGCCACTGCCGCACACCCACCCAGAGCACGCCACCCGCCATGGGAGTGTGCTCAGGAGTCGCGGGCAGCGTGGACATCTGTCCCAGAGGGGGCAGAATCTCCAATAGAGGACTGAGCACTGCTTCTGGTCTGTGTGTCTGTGGCTGGGGTGAAGTAAGGGGACCCCGGGCCTGAAACCCTCTCCCACCTTCTCCTGCCATCTCCAGTTACTGCCCTGCTCCTCCCACCCTGGCCCAGGGAAGGACTGGGTGTCCTCCGGCCATATGGTCCCTGAAGCCTCTAGGGACCAGAGTCCCTAGTAAGTGGGCTCTGTGCTCAGCTGAGACCAGCAGGGGACAGGGGACGGAGGGAATGGGCCTCATGGCCTTCTCAGGGCTTGTGGGAAAGGGAGGACCATGGGAATCACCACAGCCAATCCCGTGGAGGGTTCCAGGCCTCTTGGGGGGCAGAGGTCAGGCCACACAGCCCTCAGGACTAAAGCTCCGGGTTCCAGAAGAACAGGGAGGCTCCAACAGTGATGAGGCAGGCGTCCCAGCAGCTCAGGGTTGGAGGTGGGAATGAGGGGTTTCCCAGCCCCAGGCAGGTGGAGGGCGAGTTCAGCCCCAGGACCAACAGCATGGGGGCCACAGCTTTCCATGTCCCTGTGTACGCAGGGCAGGCAGGGCCGGGACCCCTGCTACTGGTGGATGATGGGGACACTGATGGCAGTGCCTGGGGCCTAAGAGGGGCAGAAAGAGCGCTGAATGACTGAGCAGAGAGTCCAGAGGGGCATGGACTGCCTGGGTCACCCAATAGGCCTAGGGAAGAGTGAGGGCCGGACCCACCCCACCTGACCCCAGCGAGTGGACCCAGCTTGGTCCTGAGGCCTTCTCCAGAGGTCACCCAGCGCAGGCAGCCGCAGCACTCAGCAAAGGTCCCAGATCAGGGCCAAGGGGGAGCTGAGCACCAGGGGACCCTGTGCCTGACCAGGAGGCCCTAACCTCCTGCAGGCCTCAACGCCAGGCCCTGCTCAGAGCTCGGCTGAAACTCCTCATCCTGGCTCCAAACAGAGGCCCAAAAGTCCCTGGTATCAACTCCAGAAGGGGCGAGACCCGAACAAGTTCCAAACCAGGCCCAAATAGTATCCCAAACTCAGTCCCAAACACATTCTCACCCCCGGCAGCAGGCTGCAGGCCTCCAGCTACACACACGGCCCTGGGCAACTCTCAGTCTGGCCACCCATTCGATGCTGCCAGCCCCAAGGGTGTGGGAGGGGGGTCTCAGAGTGTCCCAGGGTACTGGCCACACATGCCCGACACCAGGGTCATAAGGTCCTCTCAGCAGAGCCACTGCAGCACCAAAGGCATTTCTGGAAGGAGGCAAGGACGCGTCATCTAGATGTCAAGCCCCAGCGTGCGATTCTGTCACAGTTCACCCCACCTTCACCCCGAGACGGAAGACGGAAGAGCTTCGCACACAGGCGGGAAGAGGTCAGGACCAGTCCAGCCTCACTGGCTTCAGAACTGGCCTGGGGGCTACCTTGACCCACAGGAAGGGAAGAGGAACGTGCTCTGGGCAGGGCAAGGCAGGACCTGCAGCACCCACAGACCAGCAGTAAAGGACCCCCGGAACTTTCCAAGTCTAGCACAAAACCCAGAAGCCACAAAGGAAAATACTGGCAGATTTAAATGCATGAAGTCAACATTCTTTTTGTAGAGCTAAAGAAACCATAAGCAAAATTAAAAGCCAAATGCATTCTGGGAGGAAATACCTGCAGCATATTTAACAAAACAAGAGTTAACACTAATCTATATAAAGCTTCAGTAATTGAATCAGAAAAAGACAACGCCGTAGGAAAAAAATGGTAACATGAAAAGGAATCTCAGAAGAAATGCATATACTTATTTTTTTCTTTTTTTTTTGAGACAGAGTCTCGCTCTTTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGTGTGCGCCACCACGCCCAGCTAATTTTTGTATATTTAGTAGAGACAGGGTTTCACCATGTTCGCCAGATGGTCTCCATCTCTTGACCTTGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGGGTGGGCCACCACGCCCGGCCAAAATACATACACTTAATAAGAACATTTTAAATACTCACCAAATACATTTTTAAGTGCTCAACATCATTGTAAAACTGTAAAATTTTCTATTTTTTCCTAGTATTTGTCTAGCTTTTTCAGACTGGGTCTTTCTGTTGCTCAGGCTGGAGTGCAGTGGTGTGATCATAGGTCCCTGCAGCCTAGAACTCCTGGGCTCAAGCAATTCTCCCACCTCAGCCTCCTGAGCAGCTGCTACTACAGACCTGTGCCACCACGCCTGACTAATTTTTTATTTTTTGTAGAGAGAGGATCTTGCTATGTTGCCCAGGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGGTGAGATTACAAGTGTGAACCACCACACCTGGCCTTAATTTTTTAATTTTTGTGGTTTTTCTCTTTTGAGACAGAGTTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACGATCTCAGCTCACGGCAACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATCACAGGCAGCCGCCACCACGCCTGGATAACTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACATCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGTGCCACTGCACCTAGCCAATTTTTAAATTTTTGGTAGAGATGGGGTCTCGCTTTGTTGCCTGGGCTGGCCTCAAACTCTTGGCCTCAAGTGATCCTTCTGCCTCAGCCTCCCAAGTAGCTAAGACTACAAACACATACCACCACACCTGACAGAGTCCTTTTTTTAAATTCCTCCAAAGGCTAGCACTTTTAAAACATTAGAAATTCCATTTATTTTCTGAAAATTTTTGTGTTTCCTTATCTTTCTGGCAGCCTCATTAGACCTTATAATAGAATCAAAATGAATCTTAAACTTTTTTTTTTGAGACTCAGTTTCACTCTGTCACCCAGAATGGAGTACAGTGGTGTGATCTCAGTTCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCTCCCCAAGTAGCTGGGATTACAGGCACGCACCACCATGTTCAGCTAATTTTGTATTTTTAGTAGAGCTGGGGTTTCACCATGTTGGTCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCTACCCACCTCTGCCTCCCAAAGTGCTTGGGATTACAGGCGTGAGCCACAGCAACCGGCCTAGATCTTAAAATTTAAGAGACATTATAATTTAATTTGATATACTATGGTGGTAGAAAAACATTTCAAACTCATATAGATACAGAAACTTGGAAGCTTCAGTTCTACAGTCTTTCATACATCAAGTTAAACCAAAAAACACAAAAACTCACTGATCCACATCTCAATGGGCTTTCTCCTTTCAGTGTTTCCTTAAGTGACTTGAGATCACAAACATGCAAAATAACGACCAAAAAAACCTAACAAATCAGGTTTCCTGTCATCTCTCTCTAGATAAAAAACAGACCCCCACCGTCCTGATGGAGATAAACTAAGAGATCATAAAATCATTGTTGCCAGCTATGAGAAACAGCTTGGTCAAGAGCCAGAAACAAAACAGAGAATCAGGCCAGCCTCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACACGAGGTCAGGAGTTCGAGGCTAGCCTGGCCAACATGGTGAAACCTCATCTCCACTAAACATACAAAAATTAGCCAGGTGTGGTGGGGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGACTACAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATGCCGTCTCAAAAAAAGAAAAGAGGCTGGGGCGGGAGGATCGCTGGAAACCAGAAGTTCAAGGCTACACTGAGCTATGATTGCACCACTGCACACCAGCCTGGGTGACAGAGGGAGACTCTGTCTCTAAAAGTATATAAATAAATAAATAAACAAAAAAGGAAAGATAGACAGATGGGGGAAAACACCAGAGTCCGTGAAAGTATTTTGTTGTTGTTGTTGTTGTTGTTCTTTTTTGAGACAAAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAATGTCCACCTCCTGGGTTCAAACGATTCTCCTGCCTCAGCCTCCAGACTAGCTGGGATTATAGGCACACACCACCACACCCACCTAACTTTTATATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTTCTGACCTCAGGTGATCTACCCACCTCGTCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCACACCTGGCCTTACTGTATTGTTTTTTGGTGGTATTGTTATTTTTATTGGTTTTTTCTTTTTTTGTGATGGAGTTTCGCTCTTGCTGCCCAGGCAGGAGTGCAATGGCGAAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTTAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCTGGCTAATTTTGTATTTTAAGTAGAGACGGGGTTTTACCATGTTGATCAGACTGGTCTCAAACTCCCAACCTCAGGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCGCTCATTTTTTTTTTTTTCTGTAGAGGCAGTCTCCCTATGTTGCCCAGACTAGTCTCAAATTCCTGGGCTCAAGTGATCCTCCTGCCTCATGATATTTTCTATCTGAAGTTGGTTGAATCCATGGATGCAGAACCTGCAGATATGAAGGGACAACTGCAGTCAGAAAGAAAAGCAAATTAAAAATAAGAAGCCACTTTATGCCCATCAGATTGTCAAAATTTGGAGAGAGGGATGATACCATTGGAAAAGATGCAGAGAATCCTAAGGCGATGAGAGGACAGACTGGCGCACCAGTGCAGGACAGCAACCACGCAGCACCTGTGAGCAAGCAAATCCCTTCTGATGCAGCAACTCCACACTTGGAAACGTATACCAGAGGAATTGTGCATAGGCCCAGAAGGGGCAGGAACAGTTCACTGAGGCAGCACTGACAGTAACAGGGAACTGGAGGGGACCTACTTATCTATCAAGAGGAAAATCAGTAAGTGAAACGTGATGAATGCATACTGTGGATACCATGCAGGACTCAATGTCCATACCTCAACAGGGCTGCATATCAAAAGCAATATGAGGGAGAAAAGACATGGGATGAGAGTATCGCCCAAGAACTTCAGTGTAATTTTAAAACATGCAGACTTAACCACTGCAGAATTGCCCAGGGGACTCTTCATACATAGCCAAGGACCCATTCAAAACCCTCAAGAGTGGATTCCTAGGGTGAGGTGGGGCTTAGAGGTAGTGCCTGGGGACATATTGATGGCCTTGTGTCCTGAATGCAGTGTGTCATATGCAAGTGAGGAGGACAAGGAAGAGATGGGGCCACGCTGACTGGGAAGAGAGAAAGAGTGAAGCTTATATAAGATAGTACCTGAAATTAACAGGGTCCTACCTGATGAATAAACCTCAATAAGGACAAGCATGGATGGAGAAAGGACACAAGAACTGATTGAGGTCTATCTGGAATTCAGGAGGAACCCTGGTCATTACCTTTAACTGATGAAAAAACAAAGCCAATCGCCCAGGCGCAGGGGCTCATGCCTGTA-G Visceral myopathy 1 Likely pathogenic (Aug 31, 2017) 437907 20-36549091-G-T not specified Uncertain significance (Sep 04, 2024) 3401063 20-36549109-C-T not specified Uncertain significance (Nov 13, 2024) 3401062 20-36549127-C-T not specified Uncertain significance (May 29, 2024) 3297581 20-36549156-G-A not specified Uncertain significance (May 24, 2024) 3297579 20-36549161-G-A not specified Uncertain significance (Dec 28, 2022) 2213404 20-36549175-G-C Uncertain significance (Aug 08, 2021) 1677428 20-36549240-A-C not specified Uncertain significance (Aug 04, 2021) 2241405
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GnomAD Source: gnomAD
dbNSFP Source: dbNSFP