1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT

Variant summary

Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2 PP5_Moderate

The NM_000530.8(MPZ):c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT variant causes a 3 prime UTR change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★).

• Frequency: Genomes: not found (cov: 31)
• Consequence: MPZ NM_000530.8 3_prime_UTR
• Clinical Significance: Likely pathogenic criteria provided, single submitter P:1
• Conservation: PhyloP100: 4.14

Genes affected

MPZ (HGNC:7225): (myelin protein zero) This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]

ACMG classification

Verdict is Uncertain_significance. Variant got 4 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• PP5: Variant 1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is Pathogenic according to our data. Variant chr1-161305807-G-GACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGGGCAACTGTAGACCTTTTTGTTCTACAGGAGGGGGAGGTGGCAACCAAACAAAGTTCCATTGTCTGACCAACGCTGGGGGGCTCATGCCACCCCTACTCCCACCCCAACTGTCCTGAATCTCTCACCTCAGCATGCAATACCATGTACTTACCTTCTGGAACTTCCACCTTAGAACCTTCTTGGGAATCCCCCTTGTTTAACAAGGGAGATAATTCACTGGCTCTAACTTCTATTCCTCCTGTTACAATATCAACCATTGCCCTTCTCAGCTGTGCTCAATGGTTCTATGAGTGGAACAAGTGTTGAGACACAACTCTCCCTCTTCCTTATACATCAAGATTCCTTCCCCCTATTTCCCTCACTATGCCCTTCTCCAACTCTCTATCTTTAACATTTTCTCAGGGTACCCCCAAATAGCCCAGTACAACCCAGAAGAGTCTAGGGCTCAAGCAGCTGACAGCAGAGAACCCTGGGCATTCTGGCCAGCCCCCTTTCCCTTGATGTCCTCCCCACCACCCCCACTTGCCTATGGCTCACTCATTGCACTAGGATTCAGGGCAGTTCAGAGAAGGGAAGGGGCCATTCCAATAATCCTGCTTTGACCTCTTACTCACCCAACATCTGCCAGGGGGCAAGGAAAGGGCTGGTCAGCTTATGAAGGAAGACAGCTTTAGAGGGATAAGATCCCAGAATCTCATAGAACCTCACTCCATTCACCCACACAACAGGTGAGGAGCCATAGAGAGACAAAAAATCTGAGGAGCTGAGACCACAAACCTGGGCTCCTTACTTAGATCGCACTCTCTTTTTCCTTCTGGGAAACTAAGGTTAAGGCACCTCCTGCACTGCTAGGGGACGAGTGGGAACCAAACCCAGGTGTTTGAGCCTATTTCTTTATGTAATCTAACACTGCTTCCCACCAGGCTGTTAGCATGGCTCTGGGGGCATGCTACTATTTCCAACCTGGGTCCAGCCATGGCCACCACTCAGGGAAGCTTGCTACACTCTCTTTTACCCTTTCTTTTAAAATAAAACCTCTACTTCCTCCCTCTAAATGCATATTTTTTTCTTTTCATATATATATATATATATTTTTTTTTTTTTTGAATTTTACAGATGGAGTCTGGTTATGTTGTCCAGGCTGGTCTCCAACTCCTGGGGCTCAAATAATTATCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCGCATATTTTTTCTTTCTGAATATAATGTCACCTTCCTGCTCCTGCTTGTTCTTTCTTTGGTTGCAGTGGGGAGTGCAGCAAAGGCTGTGGGGATTGCTGAGAGACACCTGAGTCCCAAGACTCCCAGAGTAGAGTGGCTCCACTTACCCAAAGAAGAGAAGAGCAGCACAGCCAGGATAGGGCTGGGGCTGGATGAGGGAGCCCCAGGAGCCATAGCTGGGGCAGGGGCAGGGGCCCGGAGCATCTGTGGGGTTGAGAAAGTGGGGGACCAGGAACTGAACGGGGGGTTCCT is described in ClinVar as [Likely_pathogenic]. Clinvar id is 243058.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MPZ	NM_000530.8	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR_variant	6/6	ENST00000533357.5
MPZ	NM_001315491.2	c.815_816insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT	p.Ile272_Glu273insGlyThrProArgSerValProGlyProProLeuSerGlnProHisArgCysSerGlyProLeuProLeuProGlnLeuTrpLeuLeuGlyLeuProHisProAlaProAlaLeuSerTrpLeuCysCysSerSerLeuLeuTrpValSerGlyAlaThrLeuLeuTrpGluSerTrpAspSerGlyValSerGlnGlnSerProGlnProLeuLeuHisSerProLeuGlnProLysLysGluGlnAlaGlyAlaGlyArgTer	stop_gained, inframe_insertion	6/6
MPZ	XM_017001321.3	c.675+300_675+301insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MPZ	ENST00000533357.5	c.*68_*69insAGGAACCCCCCGTTCAGTTCCTGGTCCCCCACTTTCTCAACCCCACAGATGCTCCGGGCCCCTGCCCCTGCCCCAGCTATGGCTCCTGGGGCTCCCTCATCCAGCCCCAGCCCTATCCTGGCTGTGCTGCTCTTCTCTTCTTTGGGTAAGTGGAGCCACTCTACTCTGGGAGTCTTGGGACTCAGGTGTCTCTCAGCAATCCCCACAGCCTTTGCTGCACTCCCCACTGCAACCAAAGAAAGAACAAGCAGGAGCAGGAAGGTGACATTATATTCAGAAAGAAAAAATATGCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGATAATTATTTGAGCCCCAGGAGTTGGAGACCAGCCTGGACAACATAACCAGACTCCATCTGTAAAATTCAAAAAAAAAAAAAATATATATATATATATATGAAAAGAAAAAAATATGCATTTAGAGGGAGGAAGTAGAGGTTTTATTTTAAAAGAAAGGGTAAAAGAGAGTGTAGCAAGCTTCCCTGAGTGGTGGCCATGGCTGGACCCAGGTTGGAAATAGTAGCATGCCCCCAGAGCCATGCTAACAGCCTGGTGGGAAGCAGTGTTAGATTACATAAAGAAATAGGCTCAAACACCTGGGTTTGGTTCCCACTCGTCCCCTAGCAGTGCAGGAGGTGCCTTAACCTTAGTTTCCCAGAAGGAAAAAGAGAGTGCGATCTAAGTAAGGAGCCCAGGTTTGTGGTCTCAGCTCCTCAGATTTTTTGTCTCTCTATGGCTCCTCACCTGTTGTGTGGGTGAATGGAGTGAGGTTCTATGAGATTCTGGGATCTTATCCCTCTAAAGCTGTCTTCCTTCATAAGCTGACCAGCCCTTTCCTTGCCCCCTGGCAGATGTTGGGTGAGTAAGAGGTCAAAGCAGGATTATTGGAATGGCCCCTTCCCTTCTCTGAACTGCCCTGAATCCTAGTGCAATGAGTGAGCCATAGGCAAGTGGGGGTGGTGGGGAGGACATCAAGGGAAAGGGGGCTGGCCAGAATGCCCAGGGTTCTCTGCTGTCAGCTGCTTGAGCCCTAGACTCTTCTGGGTTGTACTGGGCTATTTGGGGGTACCCTGAGAAAATGTTAAAGATAGAGAGTTGGAGAAGGGCATAGTGAGGGAAATAGGGGGAAGGAATCTTGATGTATAAGGAAGAGGGAGAGTTGTGTCTCAACACTTGTTCCACTCATAGAACCATTGAGCACAGCTGAGAAGGGCAATGGTTGATATTGTAACAGGAGGAATAGAAGTTAGAGCCAGTGAATTATCTCCCTTGTTAAACAAGGGGGATTCCCAAGAAGGTTCTAAGGTGGAAGTTCCAGAAGGTAAGTACATGGTATTGCATGCTGAGGTGAGAGATTCAGGACAGTTGGGGTGGGAGTAGGGGTGGCATGAGCCCCCCAGCGTTGGTCAGACAATGGAACTTTGTTTGGTTGCCACCTCCCCCTCCTGTAGAACAAAAAGGTCTACAGTTGCCCCTCCCTGGGGCCAGCCCACACACATAGTCTCTCTGGAATGACCTTCCTTGTGTGGGTAAGTCTTGGGGATGGCACTGGGCCACAGTGGCCAAGAGGAAGGTGAGGACAGTTGAACCATAGAGGGCTCACATGTAGGGTCATCTGAGCTGTAGGCTTGGGGTGTTGCTCTGCACCCAGCTGAGAGGGGTATGAGGCCCTTCCCTTCCTGACTCTCCAGTCAAGAGCAAGCTGTATGGCAACCAGGGATTCAGCAATGAGGACAGTTGTGCCAGGGAAGAAGACTTATATTTTCTAGTTATCTTCATTTTTTTCTGCAAGAAATCTGAGTTTGCTGTATTGTGAAATCCAATGCAGCTGTTAAAATAAGATTGATATCTATGAATCAACAGGGAAAGCTCCTCCAGATACGTAAGTTCTTAAGCAAAAAGACACTAGAATACAATGCAATATGTATGTGGAAAAAAAAACTCCACAAAACTATTTGTTGTAAGTATGTGTATATCTTGAGTTTATTGAGTTTATACTGAGTTTGATTCATATTAAATGGATAACTTGTTACATCTTGGAAGGGAATACAGGAAAGGAATTTGTTGGGCTAAGTGTCAAAGGAGACTTTTGTTTTATTTCTATTGCTTGAATAGTTTATAAGAAGAGTACAATATGTATTACCTGTATAATTTATAATAAATTTTAAAAATTTAGAACACTGCATCTAAAGGATAGCTTAAAAGTTAGATACTGACCCAAAGGAGAAGTGAGACTTAAAGACAGAACCCAATCTCTGGAAGTCCTCAAGAGAATTCTGTTACTGCTGATTTCATCTTCTCTACAGACATGCTAAAGAGCTTGACAGACACAGCATTTATGCTCATCTGTTCAGTTAGTCCCCAGAGACTTGGGGCTCAGAATTTGTTGTTTCTTTTCCAAATTGGCCTCTGACCTGTGACTCAGCACTTGATTTCCTACTGATCTCACTTCCTCTGTATCCCTTACTGGGCCCATAGGTGCATCTGATTCCCCACTTTGTGCTTGCAGTGCTGTCCCCGGCCCAGGCCATCGTGGTTTACACCGACAGGGAGGTCCATGGTGCTGTGGGCTCCCGGGTGACCCTGCACTGCTCCTTCTGGTCCAGTGAGTGGGTCTCAGATGACATCTCCTTCACCTGGCGCTACCAGCCCGAAGGGGGCAGAGATGCCATTTCGGTGAGTGCCTGGGGGAATCCTGGGGTTGGATAACAGAAAGTGCTTCAAAGAACAACAAAAAAGATAACTTGGGCTAAGGAGGGGGAAATCCTTTTTGAGCCATAACCCCAACTTTGGCAAGGTAAATGACAGTCTTTGTCACCCTGACTACATTGTCCTCCCTTCTCCAGCACTACCCTTTCCAGCCCAAGATCCCTTACCCTGAGGCTGGAGCGAAGCTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTCTTTCTGTAACAAATTATGGAGCTAAGCTTTGACAGCTGTGTTCTCATTAGGGTCCTCTCACATGCTTCCCCTCATTCCTCATAGATCTTCCACTATGCCAAGGGACAACCCTACATTGACGAGGTGGGGACCTTCAAAGAGCGCATCCAGTGGGTAGGGGACCCTCGCTGGAAGGATGGCTCCATTGTCATACACAACCTAGACTACAGTGACAATGGCACGTTCACTTGTGACGTCAAAAACCCTCCAGACATAGTGGGCAAGACCTCTCAGGTCACGCTGTATGTCTTTGAAAAAGGTGTGAGAAGGGATGGGGACAAGGGTATGGGAAGCAGTTTGGGAGGGGATCAGGGAGGACTGATAGGTTGGGGGAAGAGGCAAAAAGCCCGGCCTAAGGACCTTTATTCAGGCTCTGGGAGCGTGGGCAGAAGGCAGTTTTAGCTGGGAGTCCTACATCCTCAATGCAGGGCATACACTCGGACTAGGAACCACAGATACAGGGCCCTGCTCATTCTCCCACTTCTTTTCCCACCCCTCCTAGTGCCAACTAGGTACGGGGTCGTTCTGGGAGCTGTGATCGGGGGTGTCCTCGGGGTGGTGCTGTTGCTGCTGCTGCTTTTCTACGTGGTTCGGTACTGCTGGCTACGCAGGCAGGCGGCCCTGCAGAGGAGGCTCAGGTAAGGGGCGGAGCCTAGCTCCCCTCCCCCTCTCCCCACTATCCCCCATCTGGGCGGAGACTACTCCAGTGGGTGGGAGGGCCAAGGGGAAGAGGAAGCTGTGTCCGCGGTGCAAGGGGTTCCGGCGAGGCCAAACGTACAGCAGTCTCTCTTCTTGCAGTGCTATGGAGAAGGGGAAATTGCACAAGCCAGGAAAGGACGCGTCGAAGCGCGGGCGGCAGGTTAGCGGGACTTGGGGCCTAGACAAGATGGGAAGGAGAACCCTGGGAGCCGCCGGGCAGCAGTGAGGGGTGGGATGGGAACAGTCAAGCCCCAGTCGCTCGGTGACTGATGTGTGCGCCCCTCCCCCAGACGCCAGTGCTGTATGCAATGCTGGACCACAGCAGAAGCACCAAAGCTGTCAGTGAGAAGAAGGCCAAGGGGCTGGGGGAGTCTCGCAAGGATAAGAAATAGCGGTTAGCGGGCCGGGCGGGGGATCGGGGGTTAGGGGTGGAGTCCGCCAAAGGCCCAAAGGTGATGGT		3_prime_UTR_variant	6/6	1	NM_000530.8	P1

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome Cov.: 13

GnomAD4 genome Cov.: 31

ClinVar

Significance: Likely pathogenic

Submissions summary: Pathogenic:1

Revision: criteria provided, single submitter

Submissions by phenotype

Charcot-Marie-Tooth disease type 1B Pathogenic:1

Likely pathogenic, criteria provided, single submitter

research

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Sep 17, 2015

This duplication was identified in a patient with peripheral neuropathy. There is a report in the literature of MPZ duplication in an individual with peripheral neuropathy (PMID:21787890). -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr1-161275597;