single nucleotide variant | NM_000020.3(ACVRL1):c.1048+2T>G | ACVRL1 | Likely pathogenic | 12 | 52309286 | 52309286 | T | G | criteria provided, single submitter | ClinGen:CA384901886 |
single nucleotide variant | NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) | ACVRL1 | Likely pathogenic | 12 | 52312792 | 52312792 | C | T | criteria provided, single submitter | ClinGen:CA384903729 |
single nucleotide variant | NM_001204.7(BMPR2):c.621+1G>T | BMPR2 | Likely pathogenic | 2 | 203379703 | 203379703 | G | T | criteria provided, single submitter | ClinGen:CA350339202 |
single nucleotide variant | NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) | ACVRL1 | Likely pathogenic | 12 | 52306969 | 52306969 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA384897700 |
single nucleotide variant | NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) | ACVRL1 | Likely pathogenic | 12 | 52307086 | 52307086 | T | G | criteria provided, single submitter | ClinGen:CA384898032 |
single nucleotide variant | NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) | ACVRL1 | Likely pathogenic | 12 | 52312835 | 52312835 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA384904048 |
single nucleotide variant | NM_001127217.3(SMAD9):c.781+2T>A | SMAD9 | Likely pathogenic | 13 | 37441408 | 37441408 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA6950480 |
single nucleotide variant | NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro) | KCNK3 | Likely pathogenic | 2 | 26950616 | 26950616 | T | C | criteria provided, single submitter | - |
Indel | NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer) | BMPR2 | Likely pathogenic | 2 | 203397450 | 203407034 | TCCCAGGTAAAAACTACTGTCAAAAGTTGATATTTTTTGAAGTGAAGCAGTTATATCTTCTTTCTCTACCTATAGTACCTAACTCAACTTTTATGTAAGAATCTTTTTACTTTCATTTAAACCTTTAGTTCATTGCTATCTAGTGTTTAGAAACATTATTAGCAGCAGGATGCAAATTAGGAATTTTTTTTTTTAGAGTACTCCAGGTTTTCATCTGAGTGAAATTTAATTAATTGCCAGTAATAGCTTATCTAACTGTATTTTGTTTGGTCTCTGATTGCTTTAGCAGTAAACATTTTCCTTATGCACCATCTGAGTGTTTGAGACAAGGTACACTTACGATGTTTACTGAGTTGAACCCAGAAGGAATTAGAAGCAATGAATTATTTGTAAACACTTTTTCCTTTTCTTTTTTTTTCATGCTCCCTTTCTCCCTCCTTCCTTCTTTCCTTCTTTCTTCCTTCCTTCCTCTTCTCTCACCTTATCTCCTTCCCTTCCTCCTCTTTTCTCTTCTTCCTTCCTTTCAATGAAAGAATACTCATTGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGTGAGGCCGAGGCTTGCGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAATATGGTGAAACCCCGTTTCTACTAATAATATGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGATAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCGTTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAATAAAAAAAGGCCTGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATGTCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAGAGGAATTGCTTGAACCCAGTAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATGGCTCTCCAGCCTGGGTAACAGAGCAAGACTCCGTCTCAAAAAAAGGGAAAGAATACTCATTTAAGTGAATGTTTGTTTGAGGCTTACTTGAAATAGCCAAATGAATTTATAGTTTTCCCTTCTTAGGGATTACATCGTTGTAGTATCATCTAAAAACTTTAACTATAAATCTGGCATTGCATTCTTCTAGGTGCTATACAGATGATTTGATCTGTGTGGCCACTGTCTTTTAGGAGTAACACCATTAAAAGCATAGAAAAAGGAACTAGCATTGGACAAATTTATGAAATAGAGCTATTTAATTTAAAAAGATTAATAATGGAGTTGAATTGTTTGGCTTTAAAGACATTAGGCATTACACATTAGTTTATATATATCAAGTGTGTGTATATATATATACACACACACACACATATATATGTATCGTGTGTGTGTGTATATATATATATAAATAAAATTTTTATTTATTTATTTATTTATTTATTTATTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCTGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAAGTTTTCTTAGTACAGAACAAAATGGAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCTGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGAGGCTCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCTGGCCGGGCGGGTGGCTGACCCCCTGCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGACAGGTCGGCTGGCCTGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACACTCCTCACTTCCCAGACGGAGCGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCAGGAAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCCCACTTTCCAGACTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCAGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGGGCTGGAGACCGGCCTGGCCAACACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGCTAAATAAAATTTTTTTAAGAGACAGAGCCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCCCAGGCTCAGGTGATTCTCCCACCTCAGCCTCTGAGTAGCTGGGACTACAGGCATGCACCACCAAGCCTGGTTCATTTTTGTATTTTTTTGTAGAGACAAGGTTTCACCATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCACCCACTTCAGCCTCCAAAAGTGCCTGGATTACAGGAGTGAGCCACCGCACCAGGCCAAACATTAGTTTGTAATTCAAAAATATAATGAAATAAATCAGTGATTAGTAGATTAAGTACAGGTTAATCAGTTATCTAGAAGTATATTTTCTAGTTAATTAAAAGTACAGAGATTCAATTGAGGCATTTTTCTGAAAATAGCAGTAATTGCAGTAGTATCAACAAGTACTTTTTTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCGAGGCAAGTGTATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAAGGCTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTACTTTTTTTGTTTTGTTTTTAAGAGACAGGGTCTCACTCCTGCCCAGGCCGGAGTGCAGTAGTGCAATCATAGCTCACTGCAGCACTGAACTCTTGGGCTCAAGCAGTCCTCCTGCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCACCACGCCCGGCTAGTATTTTATTTTTTGTCGAGACAGTGTTTTGCTGTATTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAATGCTGTGATTGCAGGCATGAGCCACCACACCCAAACCCACAAGTATTGTATTATCAGAACTTTGACCACAGTTTGGTAATTTCTTTGTTAATAGTCTCATGTAGGATTTTTGTTTTAGAAGCATGTCTGACTGAAATGATTTTTTCATCAGATTAGTACACTGCTACAAACAATATATTTTGAAAAACTACTGTGTTCAAAGAATGACTATCGCTTTTGATCTGATAAATAATAAAGAATGATATTAAATGTTTGAATAGGGAAAGGCAATTAAATCTTGTTTTCAGAAGATTATTTTAGCAAATATGTAGGATTAATTAAAATAGAAATAGAACTAGAAGGGGCTTAAAAAGGAAAAAGAAATGGAGAGTTACTGTTTAATGGGTACAGAGTTTCAGTTTGGGAAGATAGAAACAGTTCTAGAAATGGTTAGTAGTAATGGTTGTACAATAGTGTGAATGTACTTAATACCACAGAATGGTGCACTTAAAAATGGTTAAAATGATCAGTTTTATGTTATGTATATTCTACCACGATAAAAAAAAAATAAAGGAATAAGAAGAGAGTTGCTTTAAAATACCCCGTAATCTTGGATATGGAAATGGGGAGAGGCAAATCTGGGAGAAAATGCAGAGAAGAAATCTGTACTTGTGGTTATCTGTTAAAAGAATGAGATGTCAGGCCAGGTGTGGCTCACGCCTGCAAACCCAGCACTTTAGGAGGCTGAGAGGGGTGGGGGTGGATCTCCAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCGCTCTACTACAAATACAAAAATTAGACAGGTGCAGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAAAACTAAAAAGAATGGGATTCAAAGGAATTGAGAAATATTCAGAGGTTGGCCGGGCACGGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGGTCAGGAGTTCGAAACCAGCCGGGCCAACATGGTGAAAGCCTATCTCTACTAAAAATATTTAAAAATCAGCTGGTCGTGGTGGCAGTCACCTGTAATTCTAGCTACTTGGGAGTCTGAGGCAGGAGAACTGCTTGAACTAGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCCTCCATTGCCCTCCATCCTGGGCAACAGAGCGAGACTCCATCTCTTAAAGAAAAAAAAGAAGGAACTATTCAGAGGTCTTAAAACACAGTGAGGGTGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGTGGTGAAACCCCAACTGTACTAAAAGTACAAAAAAATTAGCCGGGCTTGGTTGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCGGGACGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACCGCACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGGGTCAGAGTGGCAACCAGAAAGATGAGTTAATCCTGGAGACTGTTCGATGGGGTATTGACAGACAACTAAATAAATTTTTAAAGACAATTAAAAATAATAAATAAGATGGAAATTTAAGATTAAAATGGTTATTTGGGAGTTGTCTACATAGAGATGGTAACTGAGAAGTTATGAGTCGATGCACTCCTTTAACTGGAACATAAAAAGAAAGAAAAATAGGTGAATAATGACTGAATATTGGGGTACTACCCCCATGAAGTAGGTTAATTAAGAAGACAAATGATCAGAAAAGTAGTGAGAAAACTGAAAAATCCTAATGCCTTGTAAGTCAGTATTAGAAAACTTTAAGAACTAAGATTTCAGCCTGAGGAAGCTGATTAAAAAATAAAAATAAAAAACCACACCAAGATTGATGGCAATAGATGTAATTGAAAAGAGGAAACAGAACTGAGGAATGATTTTTGAATTTGAGTAGGAGGAGGTCATTGGTATTTTTAGAAGAGTTTCTGTGGAATACAGAACACAGAAATCATGTTACAGAGTGTATATAGGAGGGGAAAGTATTTAAAAAGCACAGTCAAGGGATACAGGGCACTCTTGAAAATTTTAACAATTAAATGAGGTGGAAGTAGAAAAGAAAAAAGGATCATATAAATATATTAATAAACCTAGAGAATAGTGTATACTAACTATAAAATTCTTATAAAACATTTTTTAAACTTTTATGATATACCTCAAAATGCAGTATGTGCTGTATTATTAAATGGAAACACTATGTAATGAAGGTTACTTCTCTATAAAATGTTAGTAAAATAAATGATTTATCTGTATTACAGAGGAAGAGTGAAATGCTACAAAGTTTAAATAGAAGGGGGAGAAGGAAGAAAAAAAGAAGAGATAGAAAAAGGAAGAAAGAATAAGTGTAATTTGAGAAGGGAGCTAAAAAAAGGTCTGTAACTGGTAGAGACATAGTTAACAAGTGGCACATGGGGTGAGAAGCAGGTAATGGTATCTGATAGTGCTAGATATTACTATAAGATATTTTGGGCAGTTCTAAAGAAAATGAGATTATAAAACTTTCCTTGAGCAATCCAGCGATAGTAAGGAAATTCAGTAAGGTTTTAAGGAAATCCAATAAGGTTATTATCTTCCATGATGATGATTTTTGTCATTAACATTCACCTTTGTATCTCTAATACCTAACACTAAGTTAGCACTAAACAAGTTTCTATTGAACAATTAGATTTTGAACTGTGAAGATTTAGTGGAAATTTATTTGGTAATTCTTAACCATTGCATTCATAAAAGATTGTGCTTCAATTTCCTTTAGCAACTTTTAAAATTATAATTTGGACCTAATTTTTTAAAAGAGTGAAATTGTGAATTTTTAGTTATTCTACTAAACCAGCATTTGAAAAAAAAATAATAAATAACACTTGGAAGGTATGTGTATGTGTTGTGTGTATGTCTCAGAGACAGATCAGATACATTAGTAAATACCTTGCAATTCACAGATGGTATAGGATAAGGTTTTATCACATGGGGTTTCAAGGAAGAAAGTGATATACTAACTGCCATGATTATTAAATCCTTTAATTTTATCTCTCAAGTTCAATGTTGATGTTATTGATCAACACTAAGTATCTGCTTAAATGTTTACAGTATGTGAAACTCACTTGTATTTATACATAAGGCAGTATTACAACAAACTTGGGCGATGCTGCACAGATAATAGAATTAATCTTTGTAAATCTTTTTTAATATTGGTGGAGGGCAAGTATTTATTAGTTGTTTTGAGTATTCAAATAGAAACAAAACTTAAATGAAACATAAACTTATTTGTAATGTGGTTTCCATCTGGGTCATTATAACTTTGTATTATCTCCATGTAAGTGATATAAGGAAGGCTGCAGACATTGCCATTTTGCTTACAGGAAGTCTGAAACACAGAATAGTTAAATGACTTTTCCAAGGTCAAGATGAAGTGAAGATTAGAACCTAAATGCCTTATCCTCTGTCTTGGCGTTCTTCCTTCTAATTTATCTTGTCATTTTAATAGGGTGGGAGGACGGGTAAAGAGACAGGAACAGTCTCTGTGTTCTTTGCCATGGTTTCTACTAGATCATTGAGTGTTGGTCCCAGGGGTCTTCTATGTGGTTCAATATATTATATACATAAACTTAATTTTATTATCATATTTTGTAAAAATCAAAAGCCTAACATCAGAGTTGATTGTGCTTATTGGCAATGAATAGGGTTATTAAATAGTGATAAAATAGTTAATAATATTTAAGTCCATGATCTAAATACTACCTGTTAGTTAAAAGGAATTTTTAGAGCTGGGCACAGTGGTTCACACCTGTAATCTCAGCACCTTGGGAGGCTGAGGCAGGAAAATCATTTGAGGGCAGAAGTATGAGACCAGCCTGGGCAACACGGCAAGACCTTATCTCTACAAAAATATTTTTAAAAATTAGCTGGGCATGGTGCCACACTCTTGTAGTCTTAGCTATTAGGGAGGCCACTTGAGTGCAGGAGTTCAAGTTACAGTGAGCTATGATAATGCCACCGTACTCCATCCTGGGCAACAAAGTGAGAGCGTTTCTTTGAAAAAAAATTTTTTTAAAGTATATTGATTTTTCTTTCAAATGACCATTATCATAAATATTTTTGTAACATTTGATACAGTCTGGCTGGACTATAATAGAACCAATGATGTAATGAGACATAGTGACTGTTCAACCCACCCACTTACATTTGGTTCTGTAGGCATATTTGTTGTACTAGGTCCTGGAGTTTTTCCTCATCTTTACCCGCCTCCATGGGATCAGTGTTCAGGCATGTTTTCAAGTATTAAGTATGCCTTATAAACATAATAGTCTTTTTTCCCTGAATTTAGTAATACCAGAAACCATTTAAAAATACCTATCCATCATTGAAACTACCATTTGACTTATCAACAAATATTTGAGACTATTCTAAGCAAAACATTCATTAATAATGCATTAGACTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCTGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAATATGAAAATTAGCTGGACGTGGTGGTGTGCGCCTGTAATCCAAGCTACTCGGGAGGCTGAGGCGAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTAAAAAAAAAAAAAGAAAAAAAAATCATTAAACCTACAGCAAGGTCTCTTTAGGATTTCCAAATGTGCCTGAAGGGGATGAAAAAATAAAAAGATTGTGACACAATTTTTTTTGCTTACTTGGTATCAGAAATACCCCTGTTATTCTATCATTTATGATAGTTAGAAATTTTATTCTGTCATTCTTTTCTACAAATCCACAGG | AGA | criteria provided, single submitter | - |
single nucleotide variant | NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) | ACVRL1 | Likely pathogenic | 12 | 52309991 | 52309991 | A | G | criteria provided, single submitter | - |