Variant · Deletion

VHL NM_000551.4(VHL):c.341-1406_*3377del

CI-VAR-00170513Explore in graph →NM_000551.4:c.341-1406_*3377delClinVar 997730

Curated evidence

Evidence by cancer (0 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

Data not yet available

No curated evidence item references this variant yet.

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
997730	Pathogenic	criteria provided, single submitter	1	Von Hippel-Lindau syndrome	germline	1	Jun 01, 2020	clinvar

Nomenclature

Record

Gene: VHL
Type: Deletion
HGVS c.: NM_000551.4:c.341-1406_*3377del
Assembly: GRCh38
Position: chr3:10145103-10153338
Ref / Alt: AGAATTGCTTGAACCTGGGAGGCGGAGGTGGCAGTGAGCCAAGATCACACCACTACACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCTAAATAATAAATAAAATGGTAACTTTTATGTATATTTTACCAAAATTTAAAAAATTACAAGTTTACATTTCTTAAAATTTCCCATCAAATCTGTAAGTAAATTTATGCCCCGAGGAACAAGTGCTATATTTATTCTAAGACAACCTCCTCCTTCCTTAAACAGAATCTTAGGGCTGGAGGATTGCTTCCTGCCCTCTTTTGTTTGTGATGTATGCATTTTGAAAATTCTGGGCCAGGCGCAGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATAAGATCAGGAGATTGAGACCATCCTGGCTAATACGGTGAAACCCTGTCTCTACTGAAAATAACAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTGGTCCCAGCTATTTGGGAGGCTGTGGCAGGAGAATGGCATAAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGCATCTCAAAAAAAAAAAAAAGAAAAAGAAAAGAAAATTCTGGTATAATTTACATACAGTAAAATGCACAGATCTTAGGGTTTGATGAGTTTTCTCTCGACATGTTTTTGCACTTCCTTGTTTTTGAGAAGCACTGATTTGAGAAGTCAGTGGCTTTTTCTCTTTAGTTTGCAGGGTTTGCTGTGATTTGTAATCACGTACTTGACCTAGGCTTCCCTTTTCCACCATGGTAGCAGAAAGGGCATGGGATTGAGAGCTTTAAGTACGCGCTCTTTGCTTACTGTCTTATACCTTGAGCATGTCACTTCTCTCAGACTTGTTTTCTCATCTGTAAATGGATCTGTTGTGAGGACTGACTGAGATAATGTTACTAGAAGGGCTTTGTATAATATTTAAGCAGAGTGAGAGGTAAGCTTTTTGTGTAGGTCAGGGGAAATGGAGAAAATAGGTGCCCTGACTCAGACCAGTCTGGCTCTTTTTTTTTTTTTTTTTGGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACGGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCTCGCCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCACGTTAGCCAGGACGGTCTTGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGGCCACCGTGCCCAGCCACCGGTGTGGCTCTTTAACAACCTTTGCTTGTCCCGATAGGTCACCTTTGGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTTAACCAAACTGAATTATTTGTGCCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATATCACACTGCCAGGTACTGACGTTTTACTTTTTAAAAAGATAAGGTTGTTGTGGTAAGTACAGGATAGACCACTTGAAAAATTAAGCCCAGTTCTCAATTTTTGCCTGATGTCAGGCACGTTATCCAATCTTTTTGTATCCTATTCTCTACCATAAATAAAATGGAAGTGATGTATTTGTACGTTATGTGTTAAAGGTGTTATGGTGTCTCAAAAGCACTTTGGGCTCTTAAGAGACAAGCGAAATTAAAGTATCATATCATAGGTTAGTTTTGTAGAATTGTAGAATTACGAATGCCTTTTGTTTCCCTGGCCAAATTGTGCCCTGGAGTTCCAGGAGAACAATGTGTAGAGCATGAGATATTTTGGCTTATTTGTTGCTGACTTCTAATTTTTTTTATTTTTTTGAGACAGAATCTCGCTGTGTTAGCTAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTACTGGGTTCCAGTGATTCTCTTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCCACTCTGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTACGCCTCCCAAAGTGCTGGGATTACAGGCATCAGCCACAGCACCTGGCCTATGTATTTTCAATTTAACACAATCAAGCTCACAGTGCCAATCAGAGGTGTTTTTTTTTTTTTTATTTTTATTTTTAGAGAGTCTCACAGTGTCATCCAGGCTGGAGTGCAGTGGTGCGATTTCAGCTCACTGCAACCTCTGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGGTTATAGGTGCCTGTCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCAGCCTGTTTTTTTTTTTTTTTAAATCATTGAAGATTGGTATAATACTTCACTATTTGTTTGAAGCTCAAATGATTTTATCAGGGTAAACCCTAATAAACTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCCAAATACATGGGTTTCATAGGATTCAAACTACTATGTGTGTATAGATCCTGTTTTAAGGAAGTAGATATATAAAAATGAGCATTGCTAAGTTAAATTTGGTAAATTTGCCTTATAGAATACCCTCGAGTACGTTTCCAGTGAGTGTAAAATAGGAATTGGGATACCCAATTCAGTTGTACTAGATTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTTCTAAGTACACATTGTTTTGGTTATGTGTTTTGTGACTACCACCCCAAAACTAATAACCACCTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCGTGTGATCTTGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCAGCTGGGACTACAGGTGTGCACCACCAAGCCTGGCTAATTTTTTGCATTTTAGTGGAGACGGGGGTTTCACCATGTTGACCAGGCTGATCTTGAACTCTTGAGCTCAGGCAGTCTGCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCAGCCCACCATTTTATTTGTTCATAATTCTGTAGTCCAGGCTGGGCTCAGCTAGGCAGTTACTCTGCTGGTGGTAGTCGTTGGTGTGGCTGCCTTTTGCTGGCAGCTGGGGGCTGGGCCTGTCCCTCTTTTTTTTTTTTCTCTTTTCTTTTTTCTTTTTTTTCAAGATAGGGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGCATGATCTTAGCTCACTGCAACCTCTGCCTCCAGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCCAGTCGCTGGGACCACAGGCATGTGCCACCATGCCTGGCTAATTTTTTGTGTATTTTGTAGAGACGGGGTTTCGCCATGTTGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGCGATCTACTGACGTTGGCCTCCCAAAGTGTTGGGATCACAGGCATGAACCACCATGCCTGGCCAGGGCCTGTTCCTCTTTATGTGGTCTCTCTAGCAGGGTAGCTCAGGGCTTTCAAAAGTATAAAAGCAGAAGTCAGCAGGCCTTTTTAAGGCTTCGGCCTAGAATTGCCAGTGTCGCTTCATCCACATTCAGTTAGTTAAAGCAATCACAAGCCCAGCCCATTTCAAGGTGAAATTACTACAGAGGCATGAACACCATGAGGTGTCCATAGGGGGCCATCAGCATAACACACTGCCACATACATGCACTCACTTTTTTTCTTTAACCTAAAGTGAGATCCATCAGTAGTACAGGTAGTTGTTGGCAAAGCCTCTTGTTCGTTCCTTGTACTGAGACCCTAGTCTGCCACTGAGGATTTGGTTTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTAGTCAAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTCTACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGGAGCGCATTGCACATCAACGGATGGGAGATTGAAGATTTCTGTTGAAACTTACACTGTTTCATCTCAGCTTTTGATGGTACTGATGAGTCTTGATCTAGATACAGGACTGGTTCCTTCCTTAGTTTCAAAGTGTCTCATTCTCAGAGTAAAATAGGCACCATTGCTTAAAAGAAAGTTAACTGACTTCACTAGGCATTGTGATGTTTAGGGGCAAACATCACAAAATGTAATTTAATGCCTGCCCATTAGAGAAGTATTTATCAGGAGAAGGTGGTGGCATTTTTGCTTCCTAGTAAGTCAGGACAGCTTGTATGTAAGGAGGTTTGTATAAGTAATTCAGTGGGAATTGCAGCATATCGTTTAATTTTAAGAAGGCATTGGCATCTGCTTTTAATGGATGTATAATACATCCATTCTACATCCGTAGCGGTTGGTGACTTGTCTGCCTCCTGCTTTGGGAAGACTGAGGCATCCGTGAGGCAGGGACAAGTCTTTCTCCTCTTTGAGACCCCAGTGCCTGCACATCATGAGCCTTCAGTCAGGGTTTGTCAGAGGAACAAACCAGGGGACACTTTGTTAGAAAGTGCTTAGAGGTTCTGCCTCTATTTTTGTTGGGGGGTGGGAGAGGGGACCTTAAAATGTGTACAGTGAACAAATGTCTTAAAGGGAATCATTTTTGTAGGAAGCATTTTTTATAATTTTCTAAGTCGTGCACTTTCTCGGTCCACTCTTGTTGAAGTGCTGTTTTATTACTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAATAGCATTTTTGTAACTTGCCATCCGCACAGAAAATACGAGAAAATCTGCATGTTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAATGTGAGTATTTCTGTTCCTTTTTGTAAATATGTGACATTCCTGATTGATTTGGGTTTTTTTGTTGTTGTTGTTTTGTTTTGTTTTGTTTTTTTGAGATGGAGTCTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCTGGCCAATTTTTGTACTTTTAGTAGAGACAGTGTTTCGTCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAATGGTGGGATTACAGGTGTGTGGGCCACCGTGCCTGGCTGATTCAGCATTTTTTATCAGGCAGGACCAGGTGGCACTTCCACCTCCAGCCTCTGGTCCTACCAATGGATTCATGGAGTAGCCTGGACTGTTTCATAGTTTTCTAAATGTACAAATTCTTATAGGCTAGACTTAGATTCATTAACTCAAATTCAATGCTTCTATCAGACTCAGTTTTTTGTAACTAATAGATTTTTTTTTCCACTTTTGTTCTACTCCTTCCCTAATAGCTTTTTAAAAAAATCTCCCCAGTAGAGAAACATTTGGAAAAGACAGAAAACTAAAAAGGAAGAAAAAAGATCCCTATTAGATACACTTCTTAAATACAATCACATTAACATTTTGAGCTATTTCCTTCCAGCCTTTTTAGGGCAGATTTTGGTTGGTTTTTACATAGTTGAGATTGTACTGTTCATACAGTTTTATACCCTTTTTCATTTAACTTTATAACTTAAATATTGCTCTATGTTAGTATAAGCTTTTCACAAACATTAGTATAGTCTCCCTTTTATAATTAATGTTTGTGGGTATTTCTTGGCATGCATCTTTAATTCCTTATCCTAGCCTTTGGGCACAATTCCTGTGCTCAAAAATGAGAGTGACGGCTGGCATGGTGGCTCCCGCCTGTAATCCCAGTACTTTGGAAAGCCAAGGTAAGAGGATTGCTTGAGCCCAGAACTTCAAGATGAGCCTGGGCTCATAGTGAGAACCCATCTATACAAAAAATTTTTAAAAATTAGCATGGCGGCACACATCTGTAATCCTAGCTACTTGGCAGGCTGAGGTGAGAAGATCATTGGAGTTTAGGAATTGGAGGCTGCAGTGAGCCATGAGTATGCCACTGCACTCCAGCCTGGGGGACAGAGCAAGACCCTGCCTCAAAAAAAAAAAAAAAAAAAAAATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATTTCTACTAAAAAATACAAGAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGATTGCAGTGAGCTGATATCGCACCATTGTACTCCAGCCTGTGTGACAGAGCAATACTCTTGTCTCAAAAAAAAAAAAAAATTCAAATCAGAGTGAAGTGAATGAGACACTCCAGTTTTCCTTCTACTCCGAATTTCAACTGATTTTAGCTCCTCCTTTCAACATTCAACAAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGGCTCACCCTCCTGAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTGTGTTTTTAGTGGAGACGGGGTTTCACCATGTTGTCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGTCCAGCCAGCTTTATTATTTTTTTTAAGCTGTCTTTGTGTCAAAATGATAGTTCATGCTCCTCTTGTTAAAACCTGCAGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGACCAAGGCGGATGGATCACCTGAGGTCAGGAGCTGAAGACCAGCCTGGCTAACATGGTGAAACCTCATCTCCACTTAAAATACAAAAATTGCCGGCCGCGGCGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGTGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGGGTGAAACCCCGTCTCTATTAAAAAATAGAAAAAATTAGGCGGGCGTGGTGGTGAGCGCCTGTAGTCCCAGCTACTCGAGAGCCTGAGGCAGGAGAATGGCATGAACCTGGAAGGCGGAGCTTGCAGTGAGCTGAGATGGTGCCACTGCACTCTAACCTGGGCGACAGAGTGAGACACCGTCTCAAAAAAAAAAACAAAAAACAAAAATTATCCAGGTGTGGCGGTGGGCGCCTGTGAGGCAGGC 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