single nucleotide variant | NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) | ABCA4 | Likely pathogenic | 1 | 94473253 | 94473253 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602412 |
single nucleotide variant | NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94471067 | 94471067 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602410 |
single nucleotide variant | NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94467466 | 94467466 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602409 |
Indel | NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG | ABCA4 | Pathogenic | 1 | 94466663 | 94466664 | TG | CT | criteria provided, single submitter | ClinGen:CA10602408 |
single nucleotide variant | NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94466618 | 94466618 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602407 |
single nucleotide variant | NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) | ABCA4 | Pathogenic | 1 | 94463499 | 94463499 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10602405,UniProtKB:P78363#VAR_012614 |
single nucleotide variant | NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) | ABCA4 | Likely pathogenic | 1 | 94463433 | 94463433 | T | C | criteria provided, single submitter | ClinGen:CA10602404 |
Deletion | NM_000350.3(ABCA4):c.6148-698_6670del | ABCA4 | Likely pathogenic | 1 | 94463476 | 94468246 | GAGAGGAGGAGCTGGAAGATCCTCGCCAGGGAGGAGGAGGAGACCTGGAACTGGAGCATGTTGTAGTGCCTCTCCCTCTGCACACTGCCTGGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCAGGTCAGGAAGCAGGTCGTCCTTCGGGGATTTGATCTTCATTGTGACGATATAGCCATCTCCAAATCTAGGGGATGCACACAGTGCAGGACAGGCCTCTGTTAGTGGTTGGGCCTAAGGTAATCCCAAAATAAGGAGTAGACTCATCAGAAATTTTGGGGATTAAGCTCAGCTTGGTGGCTCACACCTGAAATCCCAGCAATTTGGGAGGTAGAGGTGGGAGGATCACTTGAGCTCAGGAATGTAAGATAAGCCTGGGCAACAAGAAAGACCCTGTCTCTACGAAAATTAGCAGGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCATAGGAGGTCAAGGCTACAGTGAGCCATGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAACCGAAAAACAAGAAACAAACCCAAACAAGAACAACAAAAAAAGAAATACTGGGGATTAAAGGCCCATACCATAGACCTGTGTACATACTGAAAACTAGGAGAGAAAAACCATGGTAGTCCCTGGAGAAATCATTTGATACCAGTTTTTAGAGATCAAATGTCTGCATGGTAATGTGGGATAATCGTACTTGCTGAAGTCAAAGGTAGTTTTATTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTGAGACAGTCTCACCGTTGCCCAGGCTGGAGTACAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGGGGATCCCAAGACTGCCCATAAAGACACGTGGACCAGTGCATACTGAGTGGTGGTAAGGGCTGATGGGCCAGGTGGGAGCAAAGGCTCGGGAAGGCAGCACTTCCCTGAGGAAGCTTCCTGAAACAATGGAGCTGCTAGGGCTTGGGCCATTGGTGCTTTCTTTCTCCTTCAGCAGGATGGCTGGTTACCCTCTCTTGGATGAGTGATGGTCCACCAGAGAGTGTGTGCACGGCTAGCGGGTGTCAGTACCCTATGCCCTGGTATCCTGTGTCAGTCATAACTGACTCCAAAGCTTCCTCCACAGTCTAGGGCTGTTCTCCTCTGCAGTAAGATGCAGAGGAGAAAGGCTGTTTACCTTTCAGCTCCAGAAAACTCACCATCCCTCCACACAGGGAACACTCCCCTCTCACCCCCTCTATCATGGAGATATTAAGGAGCTGGAGGGAAAGGAATAGGAGACTTCCCTTTCTCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAATGAGCACGGCAATATGCTGATAATCTTAAACTGTTAGCTTTGGCATGCAAACTCTTAATAATAAGGAATTATCTACAATAGTTTACAATGTGTGGGTACAGGATAAGGATAATCCTATTCAAGATTACTGCCATTGTTGGTTTGTCATATAACATATGGTCTTTTTTCAAACTCAAAAGCATACAATATTCTAAAAACAAAGATGGGTCCTCAAGTCAGTTGGTCTCCTAACCATTCCTACATTGGAGTGGACTCTTAGTAAATAGGCCACAGGTCCCGGATCTGTTGAGATAAGTGGTGAAATATTGAGGCAGTGGTAGCAGCCCTCCCTCATCCCAGCCAGGCTCTGCATGCATCCTGATCAGATGCCCCATCCAGAGACTTGGGCGAGTCTTCGACCACAGGAAATTAGGCCAATATAGAGGAGTTTCTTATCAGCATGATGGCCTTCTCCATCTGCTGCTGGAGAATGAGGCCCAGCCACCACCTGCCTCTGCCCCAGGGGATGACGGAGCAGCAGGACTCTTCCAAGTGTCAATGGAGAACACAGGATCCAGGTGGATCCACAGAAGGCAACAAGGGGCACGCCCCACCATCTGCTTACTTGGACTTGAGATGCTGAATGGTGCCCATACATCGAAAGGCGCCCTTTACCATGATGGCCAGCCGGGTACACAGTGCCTCACATTCTTCCATGCTGTGGGGCAGGAGAGAGGAGGTGAGCAGGAGAGGATTCCCACCCACCTTCCCCAGCCCTGGGAATCTCTTGCCTGTGGGATGTGAGGACCACAGCCCTCCCTTCTCTGATGATGCTCACGATGACGTTCCACAGCATGCGGCGTGCCTGGGGGTCCATCCCTGTGGTGGGCTCATCCTGGGGGGTGGAGAGAAGGTTGGGGGCACAGGCTGGGAGCTGGCCCTTCTGATTACTGCTTCCCCCTGGGCTGGCTCCCCTGTGGAGGATGAGCTGACAGAAGGCGCACACAGTCACTCCCCTCACTTGAGCAAGACAGGGGTACCCTGGTGTAGGGTAGGGAAGGCAGGAGGTGGATCCAAGAGTAAAGAAGCGTGGCGTCCATCCTGGGCCCATTTCAGCCCACGAGGGGATTAAAGTGGATTAAGGCAATGACAGAATTCTCCTCAAAAAAAGAAAATCCTGCAAATACATTTGTCAGAAGGCAGGGAGGTCACTCAGGTCACTTCCTTGGTTCCCGCTATGTCCTGTGCCCTCATGATCCTTGGGCTGCGTGGGCATGGCCTCAGGCCTGGCCTGGCTCAGCTCAGGAGCCTTTGACCCAGCTCAGTGCTCCTGTATGGGGACCAGACACCGACAGGCCGCAGAGTGGGCTGAACTTCCCGGCTGTGAGCCGATGGCCCCACAGGAGACATCCTGGGAACGCAGGATGTGCGCAGTCCCAAGTCAAGGCTGTGCCGTGACTTGTTTTTCTCCGGAGCTGTGTGAACCAAACACTGGGCTGATCGCTCAAAATGAGCAACACAGGAAACAGTCCAGACTAAAGCCAAACTGCTGCAGTTTCTAAATCTGCCGACCCAGAACCTATTTCCCCAACCCAAGAGACCCAGCACTTGGTTTAAGCCCTTGGTGCGGCCCAAGCCCGCAGTTACCAGCAGCACCAGCGGTGGGCAGCCAATGAGTGCGATGGCTGTGGAGAGTTTCCGCTTGTTGCCCCCACTGTACGTGCCAGCCAGGCAGTCGGCGTAGACAGTCAGGCCCAGGCTCTTAATACTCCAGTTTGCAACCTAGGGAAGAGAAAGAAATGCCATTTGGAGAAGACAAGCAAACACCCCAAACCTCCCCCAGTTCAAAGCCTTGGGCTCCCAGATCTCACGCCTCCAGAATGAAATCCCCAGCTAGGCTGAAACAGGCTCCTGCTGGCTCCTGTCCTCTGGCATGTGCTTCAGGCGCCAGACAGGGGCTCTTTCTCTCTGTGTCTTGGATCCCAGGGTGGCCCAGCCTGCTCAGCATCTGTTGGGTGTAGCCGCCTGGGAAATGGACTTCAGCCTTACAAAGAGCAAGACAGTGGGTCTCGCCCAGCGTCCTGGACCATGGCTAGCAGTGGAGGAGGAAGGCTCTGTTTGAGAAGATGGTGAGTCCCAGACCTGTTGATCCCACCCGTCAAGAGGGTTACACCCAAAGCCTTGTGCATCCGACACATACCTATGGAGCACTGACCATACGCCAGGCACTGAACCAGGCACTGGAGAACAATGTGAACACAGCCATTGCTGCTATCCTCAGACTGCGGGGAGGTGGCAGTCAAAATAAACAGAATACTGGCAGATCGTGACAGTGCTGTGAGGGAACGATGACAGAGACACCAGGTGTGTGTGCACATGCGCAGGAGGGGATCTAGGGAAGCCACTGGAGACAAGCTCACCATGCTTCTGCCTTCTATACTAGTCCCCCGTGCCTGGAATGTTCCTCCCTAGGTGTGCAC | G | criteria provided, single submitter | ClinGen:CA10576058 |
Deletion | NM_000350.3(ABCA4):c.2713del (p.Glu905fs) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94514454 | 94514454 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA353614 |
single nucleotide variant | NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) | ABCA4 | Pathogenic/Likely pathogenic | 1 | 94526289 | 94526289 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA347415 |