Duplication | NM_014714.4(IFT140):c.3454-488_4182+2588dup | IFT140 | Pathogenic | 16 | 1565628 | 1565629 | C | CCTCAAGAAATCCTCCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCTGGCCTCAGAATTCTCTATCTGATGAGAACAACCTTGAAGAATACAGGCAAAATAAATACATTTCAGATTAACGAAAAGTAAGAAAATTCATCATCAGGAGATCTGAACTAGAAGAAATGTTAAAGGGAGCTCAGGCTGAAGAGGAGTGATACCACATGCAAATCGGAATCATAGGGAAGAAGTAAGAACACCAGAAATGACGCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCCCCTAAAAATACAAAATTAGCCAGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAGGGTAGAGGTTGTGGTGAGCTGAGGTTTGTTGCCCACTCCAGCCTGGGCTACAAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCAGAAATGGATGGTAAATATGTAGGTAAATGTAAAAGACTATTTCTTTCCTTTTAATTTCTTCAAAATACATATGACTGTTGAAAGCAACAATTATAACACTATACTGTGTTTATAATACATGTACATGTTACACATACGACAAATACAGGTGGGGACACGGGTGGGAAATGGACCTACCTGCTAACTCTAGTGTGGTAAGTATGTTTATGGTAATCTCCAGGGCAAACACTAGAAATACAATGCAAAGAGGAGTAGAGATAAAAAGCTGATAGCTAAAATGAAATTATAAAAAATAGTCCACTAAGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTATCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACCGCACTCCAGCCTGGGCGACAGAGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAATCAACTAAAAAGAAGGCAGGAAAAAAGGTTTAAAGTAACAATAATAAAAACTGGTAGAAAAAGTTGACTGGTAGAAAACTGACATGAAAAAGATGGATGGGATTACCATCAGAGTGAGACACTGCAGAAGGAAAGCTGGTAAACTTGAAGCAACAGAAATGGCAAATCCCTAAAATGAAAAACAGAAAAAGTCCTTGGGGGAGAAAAGAAGAGCATCAGTTGAGCTAGGGGATGGTACTGTATATACAAGTCATTGGAATTTCAGAAGCAGAGGAAAAAAGGAATAGAAGGGAACTTCGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGAGGCGGGTGGATCACTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAAATGGTGAAACCCCATCTCTACAGGCATGCTGATGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGTACAATAATAAGAAAACCCAATAAAATGATGAGAAGAGACTTGAAGCCTTCACAGAAGGTGTGTAAATGGATAATAAGCACATGAGAAGGAGCTGCACATCACTACTCATCCAGAAAATGTGAATTTAAACCTCAGCAAGGTACTGTTCACCCCCTAGGATGGCTACAGTTCGAAAGAATGATCAAATGTTGGTGGGGATGAGGAAAACGCTAGAACACTGCGGCTGAATAAGTGATTAGCTGGTCACTTTAAAGTGACTACACGCTGTCTCTAAAATTAAAAAATAAGCGACTAAAAAATGGAACACCATTTTCTTTTTTTGTGAAAATCCCTGAAAAAGAAATCGTGGTTATTCAGACTCGGGTACATGCAGACATTTCTTCACAAATAAAGTAAGTCTGTCGCTTTCCTGCGACACTGCTAGTAACAGCCAGTAACAGCGTGAGACTGTTACTTTTTGCTACCGACAGATTTTTTTTTTCTTTTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCAGATCTCACTGCAGCCTCAACCTCCTGGGCTCAAGGGATCCTCCCACCTCAGCCTCCCAAGCAGCTGGGACCCCAGGTGTGAGCCACCATGCCTGGCTAATTTTTCCCCTTTTTGTAGAGATGGGGTTTCACCATGTCGCCCAGGCTGCTCTTGAACTCCTGGGCTCAAGTCATTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCGCCACACACAGCCTCAGTTTGAGCCGTTAAGCCTTCGTTTCAGGAGCCTTGTGTGGCGGGATGCTGCTAGTGAGCAGCACTCAGGCCTCACCGTCTGGTATTCCTCCTTCCGCACGTAGTGCTCCACCAGGAAGCCATAGACGTCCCCGATGCGGATGGTGCTGTCCAGGTCTGGTTCCTCCAGGAGCAGCTCACACTGCTTGATGGACTCCTTGGGGTCCTCTGTGTACGTCCTGCCGAGAGCAGAGATGAGGCCTGGGCCCCGAAGCCCTGAACACCTACTGCTATCAGAGGTCAGAGGAGACTCTTGGCCTGTAAGAGGAGCTCTCCGGAATGGCAGGAGGAAACTTTCTATGAAGTTAAATTCATTAATTCCTTAATTTGTTCATTCATAAATTAACTCATCCATGTAACATTCTTACTGATCACTTGAATGCTGGGTCCTATGCTTGGACTGAAGACCAAAGACTTCCGACCCCTAGTTCCTGCTCTATGGAACAGTCCAGAGGGGGCTAGAAACCTCTGCACAAAGCGTGACCCAGAGGGGATGTGGTGCATGTGGACAGGGTACACGGAGAGGCGCACGGCACCCCTTGCCCAAGGCCGCTGGGAAGAACCCTCCAAGCAGAGAGGCTGCCCGCACACAGGCTGCGTGTGTGACCTGGCGTGAGGGTCTGTGGCAGAGCAGGGTGTGTGGCCTGTGAGCTGGGGTGACACCAGGGAGGTGAGCCTGCTGGAACACAACATGGTCCAGGGCAGGTGACTGGAGCCGTGTGGAGCTCAGGCTCCCATGTCAGGAGGGTCCAGGGCCCATCTGGCCACCCACTGACTCGGCCATTCCAGACAGGCGCCTGGCCTGCCCTCTGACCCCTGGCCCATAGAAGGTTGCCCACCCTGGCCCTCACACGTCGTCTCCCCTCCACCCACGTCCTGTGCTATCCCTGATGACCAGCTGCTATCGATTCTCCTCCGCTCCTGCCCTGTGGCCTCAGCTCAGCAGACATCTGTGAGACGCTGATACCCCAGAATCGACACGTGCAGGTGGACCGTGCCCTTCCAAGGGGCACCGCTTTGTACGACCTTGTTCAAAGGACTTCTGGAACTCTTGTTTTGGAAAAGGTTCTCCGATAAGGAAAACAGCCCTGCCAGCTGAGACAGAAGCTGGGCCCTGAAGCGCACAGGCGAGTGCCCACCGTGGTGGCCACACAGCAGCTCTCTGAAAAGCTGAGTCACCTGCCCATAATAAAGATGGGGAGGTGTTCAAATAAACTTAGCATCTTGGCCTCTCCTGAAAACCGAGACCATCGGCTGGCTGCCTGGGTCTCCTCTCCACAAGCTTGGAGCTGGTGGCAGTTGACCTGTGGAGAGGCATGAGCCCTCTGGTCACCATGGTCCCCCAACCCCAGGTCACACAGCGGCACTCACTCAGGACTCCCCTGCCCGGCCCCTGCACACCCTCAGCAGGTCTGTGGCTCCCCAGACACACCCTCTCCTGCTCCACATCTGCCTCCTCCTCCCACTCCCCCACCAGGTTTCTCTCTCAGCGTCTCTGGTGTTTCCAGAACACCTTCCCAAGGCTGTGCCCGGGCTCTGAGGGCTCCCAGGAGGAGGTGGGGTGTGTCTTCAGCAGTAGTGCTGTCCCAAGTGAGCTCCCATCTGCTGTCCTGCCCTTTTGCTGGCTGGGGTTTCTCGTGGTCAGCCCCGGCCCTGTAGTCACATCTGCCCTGGCCTGTCCCCGCTGGCCCCGGGGGCACACCTGCGGGCCTGGATGAACCTCTTCACCAGTGCCATCCTGCTCTGCAGCTGCGCCAGCCTGGTCTCCTGGTCCAGGGGGCTCTTGGCCTTGGCCTTGGCCAGGCACTTGTAGGCCTCGGTCAGCGCCCCGTGGGCTTTGTCGTAGTTCTGGTATTCATCAATCTCCACCTGTACAGATGAAACCCGTCAAGACCTGCCGGGCTCCACAGCCCTCCCCGGGGCCCCGCTGGCATGCCAGGGAGGGCCTGCACCTGGGCACAAGCGTCATAAAAGCCAGCCAGGAGGTCCAGGGCCCGCCCCTTGGTGTAGAAGCCGATGATGTTCTTCATGATCTCCGGCTCCTTCCGCCAGTCCAGGGACTGCAGGTAGTTAGCAGCCATGATGTAGATTTCCTTCTGCCTGGACACGCTCGCGAAGAACGTGATTTTCTCCGTGTCTCCGGATTTGAGCAGCGCCCTCATGGCCTAGGCAGAGAGACAGCGGGGCTCAGGCAAGCAGGGGCTGGGCCGGGACAAGCACAAGGGACCCCGAGCAGGAGCTCTCACAAGAAGAGTGGCTCAGGGCTGCCCGGTAGAGAGAGATCTTAGTGGTTGTGCTCTTCCTGGCCAGAAAGGCTCAGCCCTAGCTTGGGGTCATCACGAAGGCAAATGGAGATGCGTGCAGGGGGCCCGCAGCCTAACTGCCTGTGAGGTAGCCGCGGGCTGGGGCCGGGAGAGGCTCACCTTCAGCTTGTTGCCGGCCTGCGTGTACTTCTTGGTGGCCAGGTGGTAGCTGCCCTGGCGCATGCAGCAGTCTGCTATCTGCTCCAGCAGCTCCCGCCGCGACTCCTCAGGCAGGTCCGAGGAGTCCTTGGCCACGGTCATCTTTTCCGCCATCTCCTCGGTGATGCTCATGTTCTGCCCCAGGCACAGCTGCAGGGCTTCCTGATACTGCAAAGGTGCAGAAATGGGACGGGGCTGCCGAGGGGGCCGGGAACTGAAGTGCGCCCCTCATCTGCCACCGCTTCAGAGGAAACCAGGCCCCTCGGCTCAGCGGCGGCTTCTGTCTAGCTGGGGTGGGTATGGAGGGGACAAGGATGTCTCCCCTGCCTCACCAACCTACAATCATTCACGTTACTTTCTCACGCTGTTAACATTCCAGAATGGAACGAAGGAAACAATAGTCTCAAGTGATATATGCTCAAGAGAATATTACGTTTGGGAGAAAAGGAAATTGGTAATTTTCTTCTATAATTCTGAATTTTTAAAGTTAAATTTTTGAGACAGGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGGTGCAGTCACGGCAGCCTCCACCTCCCCAGGGTCAGGTGATCTTCCTACCTCAGTTTTTGTATTTTCAGTAGAGACGGGGTTTTGCAATGTTGCCCAGGCTGGTCTTGAACTCCTGGG | criteria provided, single submitter | - |
single nucleotide variant | NM_006445.4(PRPF8):c.3890C>A (p.Thr1297Lys) | PRPF8 | Likely pathogenic | 17 | 1565332 | 1565332 | G | T | criteria provided, single submitter | ClinGen:CA397579112 |
single nucleotide variant | NM_006445.4(PRPF8):c.4733G>A (p.Arg1578Gln) | PRPF8 | Likely pathogenic | 17 | 1563778 | 1563778 | C | T | criteria provided, single submitter | ClinGen:CA16620336 |
single nucleotide variant | NM_006445.4(PRPF8):c.5353G>A (p.Val1785Ile) | PRPF8 | Likely pathogenic | 17 | 1561843 | 1561843 | C | T | criteria provided, single submitter | ClinGen:CA397572647 |
Duplication | NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs) | IFT140 | Pathogenic | 16 | 1561094 | 1561095 | A | AGTAG | criteria provided, single submitter | ClinGen:CA658798458 |
single nucleotide variant | NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) | PRPF8 | Pathogenic/Likely pathogenic | 17 | 1558827 | 1558827 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_006445.4(PRPF8):c.6379dup (p.Tyr2127fs) | PRPF8 | Pathogenic | 17 | 1555072 | 1555073 | T | TA | criteria provided, single submitter | ClinGen:CA658798674 |
single nucleotide variant | NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) | PRPF8 | Likely pathogenic | 17 | 1554203 | 1554203 | G | T | criteria provided, single submitter | ClinGen:CA252743,UniProtKB:Q6P2Q9#VAR_022626,OMIM:607300.0004 |
single nucleotide variant | NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) | PRPF8 | Pathogenic/Likely pathogenic | 17 | 1554192 | 1554192 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA252744,UniProtKB:Q6P2Q9#VAR_022627,OMIM:607300.0005 |
single nucleotide variant | NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) | PRPF8 | Pathogenic/Likely pathogenic | 17 | 1554178 | 1554178 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA252741,UniProtKB:Q6P2Q9#VAR_022628,OMIM:607300.0002 |