Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000152.5(GAA):c.276C>A (p.Cys92Ter) | GAA | Likely pathogenic | 17 | 78078661 | 78078661 | C | A | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) | GAA | Likely pathogenic | 17 | 78084626 | 78084626 | A | G | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) | GAA | Pathogenic | 17 | 78081616 | 78081616 | C | G | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.1195-19_2190-17del | GAA | Pathogenic | 17 | 78082476 | 78090749 | GGTCCCGTGTTGTGGCTGCAGGACGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGGACTTCACGTTCAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGGAGCTGCACCAGGGCGGCCGGCGCTACATGATGATCGTGGTGTGTGCCCCCACACTGTGGGTCTTTGGGAAGGGGGCCGCCCGGTGCCCAGTGGCTCCTTCTCTGTGCAGCGTCATCCTCGTGCCTGTGTGGTCGCCGAGGATGTTTTCTGAGGGTCTTTGTGATATCGAGGGAATATCAAGAAGTTTGCAGGCTTGGCCCCAGCTGTCCAGGGAGGTCGGGTTTGAGGGTCCCCAGAAATGGCCGGGTGCTACTCAGGGTTCTGTCAGATGTAGGTTACTTGAACTGCCTTAAAGCAAAAGGCCAGGGGCATGATAAACTGATGTCACCTGGTCCTGGAAAGTGGAGGGCCCGGTGGGCCTGGGCATGGGTATCGCTGGAACTGTGGAGGCTCCGTGTGCCTTCTGGCCGTGCCTCTCCTTCTGGCCGGCTCTGAATCCCTGGAAAGGACGGCGTGAGTGAGGGCAGCTTCCAGCCCTCATGCTGGCACCACAGAGCGGAGACTTCTTCCCATCAGCTCCCATAGAAAAGTCCCAAAGCAGGACTCTTGAGTCACCCAGCACAAAGAGGCCCTTCCCTGAGCCAGTCCCACAGCCAGAAGGATGCAGTTTGGGGGCTGGTCCAGCCCGAGTCTGGTGTCCGGCACGATGGCCAGAGGAGGAGGTGGGAGGCAGGGCGAGCTGAAAAGATCCAACAGTTCCTGCCCGGAAGATCCACTTCAGCAGAGGAAGCACAGATGAGATGTGGGGCTGTGCTGATGCTGCCTGTTTCCATCCCTGCCTTCTGCAGGCAGCAAACAGTAGTAGCCCTTAAGAGCAGGAGTGGAAACACAGACTTTTTTCTTTCTCACATTTTTTTAATTATAAAAGAAAAGTGATTACTGTAGAACACTTGGGAAACTCTAGAGGTTTAAAGAAAAGGTAAAGGTAAAGCTTCCATTCCGGCGCGCCCCTCATCAGCCAGCTGGTCCTGACTCGCCCGGCCCTGGCTCCTCTCCAGGCAGGCGTGTGCAGGCATGTGCAGGTACACAGGCAGGCATGCTGTACACACGCATGATGTCATCCCCAGCCTCATCCTCTCACTGTCTCAGTTTTCCCCGTGGCTGGCGCCAGGGCTCTGGGCCACCCTCACCTTGACAGGTTTCCCTCTTCCCAGGATCCTGCCATCAGCAGCTCGGGCCCTGCCGGGAGCTACAGGCCCTACGACGAGGGTCTGCGGAGGGGGGTTTTCATCACCAACGAGACCGGCCAGCCGCTGATTGGGAAGGTAGGGCGAGGGTCCAGGGGACGGGGGTTAGAAAGCAGAGGCCTCCAGCCAGGGGGAGCCGGCAGCTGCTCAGGAAGACGGTGGGATTTGAGGAGCCATCACGCCCAGTGGGACAGCTGAGAGGAATGGGCCACAGTGGCCCGTGACGATGGTGGCTCCTACAAGGAATGGCCCCGTGAGTTCTTCCATCAGCAGGCCTTTGACTTCATGGGCAGCTGGGCCTGGCCCAGGCACAAGCCCTGCAGACCCTCAGTGAGGCCTTAGGGTCCTCCTTGTCCTCCCAGCCCCCCAGGGGCCTCCAGGCAGGGCCCCCGCTGAGGGAGCAGCTAGGGAGGGTCTGGTGCGGATGTGAGGCTGCCTGGCAGGGCTTGCACGGGGCCGTCTCCGCTGCCCTTCTCCCTGACGCTCTCTGGTTCTGCAGCCCAGCCCCTGGGTGGACGTGTTGGGGGTGACCCCTCGTTTTCCCAGGGTTGAGGCCCCTTGGCCCCGCATCAGTGCCTTGTGGAGAAAGAGCTGCTCATTGACCTCCAGGGTGCAGGTCTCTCAGATTTGCAAATGTGGGCGTCCACTAAGAGTGAGGCTGCCCCTCTGCTCAGGCTGAGGCTCAGTGGGGCTTCCATGCAGGCCCTGGGTGGGGCCGGGTCTCCCCACTGCAGCCTCTCGTTGTCCAGGTATGGCCCGGGTCCACTGCCTTCCCCGACTTCACCAACCCCACAGCCCTGGCCTGGTGGGAGGACATGGTGGCTGAGTTCCATGACCAGGTGCCCTTCGACGGCATGTGGATTGTAAGTGTGGCCCCCTCCTGAGCATCCCCAAGGCCTCTGGGGACTACCCCACCCTCCTCACTCTGGGCAGAGTCACCTACCAGCAGCGCTTCTCTTGCAGGACATGAACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTGCCCCAACAATGAGCTGGAGAACCCACCCTACGTGCCTGGTCAGCTCGCCCCCCACCTACCCTGGGGACTTAATCAAATCAGAGACTCCCTTGTCTGGCCTGGGAGACTTAGCACCCTCATCTCTGAGAAGCAGATGGGCCAGCGGGGAAAGGGGCGGGGGGGGGATCCCCAGGAGAAAGGCTCAGGCTGGGAGACTCAGCCAAGCAGTGCAGACAGGGTGGGTGCAGAGGCACAGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGT | G | criteria provided, single submitter | - |
Deletion | NM_000152.5(GAA):c.148_859-11del | GAA | Pathogenic | 17 | 78078528 | 78081583 | GTCCTGGAGGAGACTCACCCAGCTCACCAGCAGGGAGCCAGCAGACCAGGGCCCCGGGATGCCCAGGCACACCCCGGCCGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCCTGACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTGTTGCTACATCCCTGCAAAGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAGCTACCCCAGCTACAAGCTGGAGAACCTGAGCTCCTCTGAAATGGGCTACACGGCCACCCTGACCCGTACCACCCCCACCTTCTTCCCCAAGGACATCCTGACCCTGCGGCTGGACGTGATGATGGAGACTGAGAACCGCCTCCACTTCACGGTGGGCAGGGCAGGGGCGGGGGCGGCGGCCAGGGCAGAGGGTGCGCGTGGACATCGACACCCACGCACCTCACAAGGGTGGGGTGCATGTTGCACCACTGTGTGCTGGGCCCTTGCTGGGAGCGGAGGTGTGAGCAGACAATGGCAGCGCCCCTCGGGGAGCAGTGGGGACACCACGGTGACAGGTACTCCAGAAGGCAGGGCTCGGGGCTCATTCATCTTTATGAAAAGGTGGGTCAGGTAGAGTAGGGCTGCCAGAGGTTGCGAATGAAAACAGGATGCCCAGTAAACCCGAATTGCAGATACCCCAGGCATGACTTTGTTTTTTTGTGTAAGGATGCAAAATTTGGGATGTATTTATACTAGAAAAGCTGCTTGTTGTTTATCTGAAATTCAGAGTTATCAGGTGTTCTGTATTTTACCTCCATCCTGGGGGAGGCGTCCTCCTCCTGGCTCTGCAGATGAGGGAGCCGAGGCTCAGAGAGGCTGAATGTGCTGCCCATGGTCCCACATCCATGTGTGGCTGCACCAGGACCTGACCTGTCCTTGGCGTGCGGGTTGTTCTCTGGAGAGTAAGGTGGCTGTGGGGAACATCAATAAACCCCCATCTCTTCTAGATCAAAGATCCAGCTAACAGGCGCTACGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCACCGTCCCCACTCTACAGCGTGGAGTTCTCCGAGGAGCCCTTCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTGTGAGTTCTGGGCTCTGTGCCAGCATGATGGGGAGGGCGACGCGCATTTCTCACACGGCAGGGAGGGCCACACGCGTTTGTTTCTCACACGATGGGCAGGGCGACACATGTTTGTTTCTCACACGGCGGGGAGGGCGACGGGCATTTCTCACAGGGCGCTCCCTGGGTCTTTTACTCACATAGGTCTAAATCCCATGTAAACACGTGTTCAGGACTCACCAAGCCCCTGCTTGTCATTTAACTCAGGAAAACTCTCAGGAACGACAGCACTTGGATTTGCCTTAATCTTAAGAGAAGTTGCCTTCGGAAATGCGTTTTTCTTTTTTTGCTCATTCATTTACTCAGTGTCCACGCACTGACCCTCCGTGCCGGGTGGTTTGGATCCTGCTCCCGGGGACAGACACACAGTGAGGGGAAGCCATAAGCAAGTCCATGCAGACACAGCGTCAGGGAGTGGTCATGCAGAGAGCACGCTAGAAGCCAGCTGTGCAGACACGGGGCAGGGAGGTCCCCTCTAGAAGCCAGCTGTGCAGACGCAGGGGACAGGGATGGCCTCTCTGGAAGCCAGCTGTGCAGATGTTGGGGGCAGGGGTGGCCTCTCTGGAAGCCAGCTGTGCAGGAGTGGGGGGTGGGGAGGCCACTCTGGAAACCAGCTGTGCAGATGCAGGGGACAGGGGTGGCCTCTCTGAGCTGACCTCTGAGTAGAGAGACCCAAGAGAAGTTTCTCAAAGCATCTTATCAAGCTAGGTATGGTGGTTCATGTCTGCAATTCCAGCACTTTGGGAGGCCAAGGCGAGAGGGTCACTTGAGCCCAGGAGTTCAAGACCATCCTGGGCAACATAGCAAGACCCCATCTCTTAAAAAATAAAAATAAAAAATTAGCTGGGAATTGTGGCACATGCCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGGATCCCTTGAGCCCAGGGGTTCGAGGTTGCAGTGAACCATGATTTTGCCACTGCACTTCAGCCTTGCTGAAGACCCCGTCTCAAAAAACAAACAACAAACAGGCATCTTATCAGATCTCGGTCTTGAAAGCACTCAGCGTAGTCTTGCCCAGGGGAGGGTGGGTGCGGTGTGAGCCCGTCCTGCGAAATTAGCTGTGCTGTGTTAACAGAGGACGCGTCTTCCTGTGGACCGGGTTTATCTGCGGCTTTCATTTCTCGGAGGTGCTGTTTGCCTTGCACTTGACCCCCAGCAAACCTCAGGGGTCCTTCTCAGGCATGGCTGGGCTGGGATCTGGGAGGACTTTGGCCACAAGCTCCTAGGCCTGGAAAGGTTCTGTTCAGCCCCTGCCCAGCCTTGCTTGGGGTCATGGGACAGGCATGTGTGCCAGTTCCGGTACCAGCCAGTTCCTGGAGGTCAGCCCCTTGGGGGCCCCTCAGGGGTGGTGTGGGCCCAGCCAGGCGGTGCGCCTCTTCTGATATGCCCTGAGAGTTGATCACGCTGGTGCCAGGGTGCCAAGGGCTGCAGGGCTCGGCACGGCCGCCTGTCCCAGGGTCAGTGTGCTGCAGGGCTGGCCAGGCCACTCCGCCCTCCCAGGGCACCAGGGCCCGGGGGTGCTCTCTGGGTGCTCTCAGGCTCGTGTGGCCCCTTGGGTGTGAGCAAGCCTGGCTGGCCTCTGTCCCGCAGGCTGAACACGACGGTGGCGCCCCTGTTCTTTGCGGACCAGTTCCTTCAGCTGTCCACCTCGCTGCCCTCGCAGTATATCACAGGCCTCGCCGAGCACCTCAGTCCCCTGATGCTCAGCACCAGCTGGACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGTACAGCGGCGGGCGGCGGGCGGGGGCACTGAGCTGGGGAGCGCAGGTGCTGAAGCGCCGTC | G | criteria provided, single submitter | - |
Indel | NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) | GAA | Pathogenic | 17 | 78086737 | 78086738 | GG | T | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.1952del (p.Gly651fs) | GAA | Pathogenic | 17 | 78086736 | 78086736 | TG | T | reviewed by expert panel | - |
single nucleotide variant | NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) | GAA | Pathogenic/Likely pathogenic | 17 | 78086691 | 78086691 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000152.5(GAA):c.1326+1G>A | GAA | Pathogenic | 17 | 78082628 | 78082628 | G | A | reviewed by expert panel | - |
Deletion | NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) | GAA | Likely pathogenic | 17 | 78082162 | 78082163 | TGG | T | reviewed by expert panel | - |