Deletion | NM_001035511.2(SDHC):c.242-408_*4118del | SDHC | Pathogenic | 1 | 161331710 | 161336447 | TTTTTTTTTTTTGGCCCATACAATGGCTTTCAACATTCTGAGAGCAAGTGTTTGGAAGAATACACCTTGAGAAACATTAATCTAGATGTGTGGTCCTGAGGAAAAGTTGTATCTATTCATTCTGGAAGCTTTTGTATACCGTATGGGGCCTGTGGCATTCTAGAGAACATTCCTCCTACCATCACCACACAATAGAACCTGATTTTCTGTCATTGGAATAAGTGGATAATAGGTTCCATACTGTGGGTTTTGAGAAGGGTAAAGGTGGGGCATAAGGGTAGAAGCGCTTTTCTCTAGAATCATGCTGAGAGGAGATATCTATTCCTTTAGGTAGAATTACTTTCTGAGACAGGAACTGTTAATGTCCTATTTACTGAAATTCCTTTTTTTTTTTTTTGCTTTGTCCACAGATGTGGGACCTAGGAAAAGGCCTGAAGATTCCCCAGCTATACCAGTCTGGAGTGGTTGTCCTGGTTCTTACTGTGTTGTCCTCTATGGGGCTGGCAGCCATGTGAAGAAAGGAGGCTCCCAGCATCATCTTCCTACACATTATTACATTCACCCATCTTTCTGTTTGTCATTCTTATCTCCAGCCTGGGAAAAGTTCTCCTTATTTGTTTAGATCCTTTTGTATTTTCAGATCTCCTTGGAGCAGTAGAGTACCTGGTAGACCATAATAGTGGAAAAGGGTCTAGTTTTCCCCTTGTTTCTAAAGATGAGGTGGCTGCAAAAACTCCCCTTTTTTGCCCACAGCTTGCCTACTCTCGGCCTAGAAGCAGTTATTCTCTCTCCATATTGGGCTTTGATTTGTGCTGAGGGTCAGCTTTTGGCTCCTTCTTCCTGAGACAGTGGAAACAATGCCAGCTCTGTGGCTTCTGCCCTGGGGATGGGCCGGGTTGGGGGGTGGGTTGGTGAGGCTTTGGGTGCCACTGCCTGTGGGTTGCTGGCTTAAAGGACAATTCTCTTCATTGGTGAGAGCCCAGGCCATTAACACCTACACAGTGTTATTGAAAGAAGAGAGGTGGGGGTGGAGGGGAATTAGTCTGTCCCAGCTAGAGGGAGATAAAGAGGGCTAGTTAGTTCTTGGAGCAGCTGCTTTTGAGGAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAATTATCATTGAACATATTAATGGTTATTTCTTTTTCTTGGATTTCCAGAAAAGCCTCTTAATTTTATGCTTTCTCATCGAAGTAATGTACCCTTTTTTTCTGAAACTGAATTAAATACTCATTTTATCTTTGACTCTCCTTGAAATCTAGAGAAACCAAGAAAATGGCTGTTGGGAAGGAACCAATTTCCTCCTCTTCCCTCGGGTCTCAGGCATTTACATCCTCCCTCTCCCCGCAATCTGACCTTTACCAGGAGGGAAACAGTTCTCCTACATCTCATCATTGGAAAAGTTTTCAGGGAATCAGATAGAACTTAGCCAGAGATTTAAATATCACAGAAAAGCCTCAGAGAAGGAAGGAGAAAAAGAAAAGAAGTGACGCATGTAGAGTGCTTTTGGGTTATAGGCACCAAAATCCCATTAAGGACTGATTATAAGCTTCATGGTACAGTTCAGCAAATTATGATTCATTGAGGGGCACAGAGGACCAGTGTTGGTGACAGCTAGGGGATGATGACCTGAGGTTATAGGCTTGGGGTGAATGAAGCATAGAGTTTTTTTTTAAAAAAGAAGGGATTGTTGAAAACCTGGCAAAAATGTATAATTTAATGAGAAAACTTGCTGCTTTTAAAATCCATATAGGCCAGGCTTTAGCAGGCATGCTGTTTTGATAGTTTTTGGGAACTCTGGAATAAGAGACTTATCTCATCTGTCACTTCGAGTTGTTGGCCAGCCAGTTAAAGCTGTGGGTCGAAGAGGGGAAATGTTAACTGGCTGGTGTCAATTGGATAGGAAGACCTTAGTTAAGGTGGGGACCCGCTGTTTTAACAGTCTTCATTCAGGGTCCCAAATAGTATTTGGCTTTAAGTAATGATTGGTTTTCCCTTTTTACTAGAGGGGCCCTGGGAAGTCCTTGTACCTTTCCTCCATTTTAAACCAGCTGTTCTCTACTTTGTCCTTGGAATGAGGGACAAGTGATCATGACAGAACACTTTGTCATTGGGACTGGGAAAGGTTTGGCAAGGGCATTAAATTTAACAGCCAGTGCCAGGAAAATATAAAATGGGGTCAATGATAAACAGCTGTTAGAGGCTGGAAAATGGGTAGGGCAGTTGAATTTTTTGGTGGTTTCGTACCATTTGGGTGATTGAAGCATGGTAGTGGGTGGGTGGGGGGTGTGACAGAGCATCATGTTTGTTATTCTGCCTTAAATTTCTACTTACTGTCTTTTTCTTCTCTGTCTTCCAATCACTTTAATATCTTCAATTTTCAAACTATATTTGTACTTGGGCTTAGATAGAAAGTCTTACACAAGCATAGTATCTTCTACTTTGGTTTTCCCTACCTTTTCTTCCCCACCTTCTCCAAACACACATATACATACTCTACTCAATTCTATTTCTGATTTTGTAGTTGTTAGTTGTCCATGCTCAGGATAAAAAATGAGTGGGTAGGGTTGAGGGACTGGTTCTTTGAGGTTCTGCCCTTTTTCCATGATTCAGACCAACTTTCTCTTGGTCATTTCTGGAGTATAACTGACTCAATTCTTGTAAAAATGTGTTCCACCCAAACCACTGTATGTTCTTTTCCCTACTTTATTTTCTCCTACCTTCCTTCTCCTAATTGTGTTACAAGAGGCAGCCATAGCAAGAATGGAAAATCCAGATCAGTAAAAGATTCAACAAAAAAAAGTTTATTTTCCAAATTTGCTTTTACTCCCACCCCAAAATTTCCCTGTTTCACAGTTCTGACTGGGGGCTCTTGTTTATTTCACTGAGTCGCTATACGGGTTTTTCAGTGTGTGGCCACTTGGTCCATATGAAGTTCCAGGTTTGTATTTCTGGACCTCAGCTAGATTAGGCCCTGCCCAGAGTTCTAGCATACGTGGACTTCCAGGTGGGCTCTTAGGATTTGGCTGGTCTTTGGGGACCTGGAGTATGACCTGCAGAGGGGTGTGAGCTTTGGAGTTCATCTGGGGAATTGAGGTTGGCAGCTGGGGAGCTTGGAATTATGGTTGGACTTCGTGCTTGTTGTACAGTCTTTGTGATAGACTTCTTTCTGAGTTTCTTCTGACTGTCTGGATCATGGGGCTGTCAGTGATAAGAGTGGGAGAGATAGTCATGTCTCTGGTCAGGCCCGGATCATTCCTAATGCACCTCAGGATTCTAACTCCCTTTCTCCCCATACCATGGGCAGTAGATCAAGTTTCAAATAAGAAAAGTTAAATTTGATTTCTCTAACCACCCTCCCCCACCTTGAGATTAGATCATTTTCTACTGTTGGGGGTATGATGTCCTTAGCCCATCCCTTCAGGCCTCAGAAGGTGATTAAGGACTAGTCAAGATAAGACAAATTGGTTAGAGGTCCCCCATGCTGGGATAGTGGTGGCATAACAATAGACATTTTTTGAGGTTGAAAAGAAATTGAGACTACAGGGTTTTGGGTTAGATGGGAAGAATAGATACCTTGCCTAAGATTTCAGGACACAGCCCATTGGAGGCCTTGAGTAAATCAGGATTTTTCTGTATCCATTTGGTGAGGGAGGCAGCACCAGCAGTTGTACGGGAGGTCAGGGTCACCCGAGCAGGGGGTATCTTCAGAGGCATTTGCCAGGTGCCCATGAAGGAACCCCAAGGATTTGCCTAAAAATGAAAAGGGATTCCTCAGTAGGGCTTCTCACTCCCAGTAACTGACTTAGACCTCTGTATTATTTCCTTTCTTTACCTTTAGGAATGCATGGTTATGAAACAAGACTGAAAGCATAATCTTCCCACCCTTCCTTATCCCCCTCCCTCATTTAGGCTTTGCAGGCCTAATTTTTTCATCCCCTTTACTCTGCCAACTTAAATTCCACATCCTTAGGCCGAGTGTGGCAAAGGAGTACCCACTGCACAAATGTCATCACCTGAAGGCTTTCATTTATACAGATCATTGATCAATTTAAGAACTTCTGAAGGGTGCTAAACACAACTCTATCCTGCTGGGTAAGCTGGCCGGAAGTTCAGGGGCTCTCACATTACAACATGAATTAGATTAAACTTTAATTTTCCCGATAATGGCTGTGAGAGACTGCACATCTCCCAGTTCTGTGCCTTAATTATTTGACTTTCTTGATAGGAGTGAAGATAGTATCTCACCTTGGAACGGGGCACAGAAGGCAGTAGATGACCACGATCGTTGGCAATAATTTGAGTGTAGCCTTCATGAGAAGAGATGCTCTGGGGTACAAGTGGGAGAGATAAAGGTTTGTGAGGGGAAAAAGGGAAGTATTTGGGGAGCTTGGTCAGAGAAGGATATGGGAGTTTAGAGAATGCTAAAAGGAGTTAATTGACAGGGAGAGCATGAGGCTATCTTGTAGGTGCACTGAACATGGAATACCTCTTTTGTTGGCTTAGTGGGAGACCAGTTCTGCAGATACTTGGATGAGAAAGCCTTTTCATACTGTGGAGAGAAAGATAAGTAGCCCTATGAGACTTCAAGGCCCCAAACCCAGGAAATGAAGACTAGGCACAATTCTTTAGATTTGAAGACCAAAGGCCTGACCAACCATGTAGGCTTTAAGTCACTATGACAAGGGTGTAATTTGTTTGGTCTAGA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_003001.5(SDHC):c.405+1G>C | SDHC | Pathogenic | 1 | 161326631 | 161326631 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA343456782 |
single nucleotide variant | NM_003001.5(SDHC):c.405+1G>A | SDHC | Pathogenic | 1 | 161326631 | 161326631 | G | A | criteria provided, single submitter | ClinGen:CA011395,OMIM:602413.0004 |
single nucleotide variant | NM_003001.5(SDHC):c.405+1G>T | SDHC | Pathogenic | 1 | 161326631 | 161326631 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011403,OMIM:602413.0002 |
Deletion | NM_003001.5(SDHC):c.405+1del | SDHC | Likely pathogenic | 1 | 161326630 | 161326630 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) | SDHC | Pathogenic | 1 | 161326622 | 161326622 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011426 |
single nucleotide variant | NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) | SDHC | Pathogenic/Likely pathogenic | 1 | 161326612 | 161326612 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA31433613 |
single nucleotide variant | NM_003001.5(SDHC):c.380A>G (p.His127Arg) | SDHC | Pathogenic/Likely pathogenic | 1 | 161326605 | 161326605 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA011435 |
single nucleotide variant | NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) | SDHC | Pathogenic/Likely pathogenic | 1 | 161326602 | 161326602 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA31433576 |
Duplication | NM_003001.5(SDHC):c.376dup (p.Tyr126fs) | SDHC | Pathogenic | 1 | 161326600 | 161326601 | G | GT | criteria provided, single submitter | ClinGen:CA10577666 |