肺動脈性肺高血圧症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309043	52309044	G	GAGCACGCAGCTGT	criteria provided, single submitter	ClinGen:CA658797917
single nucleotide variant	NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter)	ACVRL1	Pathogenic	12	52309918	52309918	G	T	criteria provided, single submitter	ClinGen:CA384902589
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	-
single nucleotide variant	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Pathogenic/Likely pathogenic	2	203378553	203378553	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001204.7(BMPR2):c.1271_1277delinsAGA (p.Phe424_Gly426delinsTer)	BMPR2	Likely pathogenic	2	203397450	203407034	TCCCAGGTAAAAACTACTGTCAAAAGTTGATATTTTTTGAAGTGAAGCAGTTATATCTTCTTTCTCTACCTATAGTACCTAACTCAACTTTTATGTAAGAATCTTTTTACTTTCATTTAAACCTTTAGTTCATTGCTATCTAGTGTTTAGAAACATTATTAGCAGCAGGATGCAAATTAGGAATTTTTTTTTTTAGAGTACTCCAGGTTTTCATCTGAGTGAAATTTAATTAATTGCCAGTAATAGCTTATCTAACTGTATTTTGTTTGGTCTCTGATTGCTTTAGCAGTAAACATTTTCCTTATGCACCATCTGAGTGTTTGAGACAAGGTACACTTACGATGTTTACTGAGTTGAACCCAGAAGGAATTAGAAGCAATGAATTATTTGTAAACACTTTTTCCTTTTCTTTTTTTTTCATGCTCCCTTTCTCCCTCCTTCCTTCTTTCCTTCTTTCTTCCTTCCTTCCTCTTCTCTCACCTTATCTCCTTCCCTTCCTCCTCTTTTCTCTTCTTCCTTCCTTTCAATGAAAGAATACTCATTGGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGTGAGGCCGAGGCTTGCGGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGACCAATATGGTGAAACCCCGTTTCTACTAATAATATGCACCTGTAATCCCAGCTGCTCAGGAGGCTGAGATAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCTTGCCGTTGCACCCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAATAAAAAAAGGCCTGGCGCGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGAAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCCATGTCTACTAATAATACAAAAATTAGCCAGGCGTGGTGGCGAGCACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCAGAGGAATTGCTTGAACCCAGTAGGCGGAGGTTGCAGTGAGCTGAGATCACGCCATGGCTCTCCAGCCTGGGTAACAGAGCAAGACTCCGTCTCAAAAAAAGGGAAAGAATACTCATTTAAGTGAATGTTTGTTTGAGGCTTACTTGAAATAGCCAAATGAATTTATAGTTTTCCCTTCTTAGGGATTACATCGTTGTAGTATCATCTAAAAACTTTAACTATAAATCTGGCATTGCATTCTTCTAGGTGCTATACAGATGATTTGATCTGTGTGGCCACTGTCTTTTAGGAGTAACACCATTAAAAGCATAGAAAAAGGAACTAGCATTGGACAAATTTATGAAATAGAGCTATTTAATTTAAAAAGATTAATAATGGAGTTGAATTGTTTGGCTTTAAAGACATTAGGCATTACACATTAGTTTATATATATCAAGTGTGTGTATATATATATACACACACACACACATATATATGTATCGTGTGTGTGTGTATATATATATATAAATAAAATTTTTATTTATTTATTTATTTATTTATTTATTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCTGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGCAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAAGTTTTCTTAGTACAGAACAAAATGGAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCTGATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGAGGCTCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCTGGCCGGGCGGGTGGCTGACCCCCTGCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGTGGCTGACCCCCCCACCTCCCTCCCGGACAGGTCGGCTGGCCTGGCTGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACACTCCTCACTTCCCAGACGGAGCGGCTGCTGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCTCGGCTGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCGGCCAGGAAGAGGTGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCGGAGACGCTCCCCACTTTCCAGACTGGGCAGCCGGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGGCAGAGACGCTCCTCACTTCCCAGACGGGGTGGCGGCCGGGCAGAGGCTGCAATCTCAGCACTTTGGGAGGCCAAGGCAGGCGGCTGGGAGGTGGAGGTTGTAGCGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCACCATTGAGCACTGAGTGAACGAGACTCCGTCTGCAATCCCGGCACCTCGGGAGGCCGAGGCTGGCGGATCACTCGCGGTTAGGGGCTGGAGACCGGCCTGGCCAACACAGCGAAACCCCGTCTCCACCAAAACCAGTCAGGCGTGGCGGCGCGTGCCTGCAATCGCAGGCACTCGGCAGGCTGAGGCAGGAGAATCAGGCAGGGAGGTTGCAGTGAGCTGAGATGGCAGCAGTACAGTCCAGCTTCGGCTCGGCATGAGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGCTAAATAAAATTTTTTTAAGAGACAGAGCCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGTGATCACAGCTCACTGCAGCCTTGACCTCCCCAGGCTCAGGTGATTCTCCCACCTCAGCCTCTGAGTAGCTGGGACTACAGGCATGCACCACCAAGCCTGGTTCATTTTTGTATTTTTTTGTAGAGACAAGGTTTCACCATGTTGCTCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCACCCACTTCAGCCTCCAAAAGTGCCTGGATTACAGGAGTGAGCCACCGCACCAGGCCAAACATTAGTTTGTAATTCAAAAATATAATGAAATAAATCAGTGATTAGTAGATTAAGTACAGGTTAATCAGTTATCTAGAAGTATATTTTCTAGTTAATTAAAAGTACAGAGATTCAATTGAGGCATTTTTCTGAAAATAGCAGTAATTGCAGTAGTATCAACAAGTACTTTTTTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACCTTAGGAGGCCGAGGCAAGTGTATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGATGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAAGGCTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCAAAAAAAAAAAAAAAAAAAAGAAGTACTTTTTTTGTTTTGTTTTTAAGAGACAGGGTCTCACTCCTGCCCAGGCCGGAGTGCAGTAGTGCAATCATAGCTCACTGCAGCACTGAACTCTTGGGCTCAAGCAGTCCTCCTGCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGCATGCCACCACGCCCGGCTAGTATTTTATTTTTTGTCGAGACAGTGTTTTGCTGTATTGCCCAGGCTGGCCTCGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAATGCTGTGATTGCAGGCATGAGCCACCACACCCAAACCCACAAGTATTGTATTATCAGAACTTTGACCACAGTTTGGTAATTTCTTTGTTAATAGTCTCATGTAGGATTTTTGTTTTAGAAGCATGTCTGACTGAAATGATTTTTTCATCAGATTAGTACACTGCTACAAACAATATATTTTGAAAAACTACTGTGTTCAAAGAATGACTATCGCTTTTGATCTGATAAATAATAAAGAATGATATTAAATGTTTGAATAGGGAAAGGCAATTAAATCTTGTTTTCAGAAGATTATTTTAGCAAATATGTAGGATTAATTAAAATAGAAATAGAACTAGAAGGGGCTTAAAAAGGAAAAAGAAATGGAGAGTTACTGTTTAATGGGTACAGAGTTTCAGTTTGGGAAGATAGAAACAGTTCTAGAAATGGTTAGTAGTAATGGTTGTACAATAGTGTGAATGTACTTAATACCACAGAATGGTGCACTTAAAAATGGTTAAAATGATCAGTTTTATGTTATGTATATTCTACCACGATAAAAAAAAAATAAAGGAATAAGAAGAGAGTTGCTTTAAAATACCCCGTAATCTTGGATATGGAAATGGGGAGAGGCAAATCTGGGAGAAAATGCAGAGAAGAAATCTGTACTTGTGGTTATCTGTTAAAAGAATGAGATGTCAGGCCAGGTGTGGCTCACGCCTGCAAACCCAGCACTTTAGGAGGCTGAGAGGGGTGGGGGTGGATCTCCAGGTCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTGAAACCCCGCTCTACTACAAATACAAAAATTAGACAGGTGCAGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCATGTCAAAAACTAAAAAGAATGGGATTCAAAGGAATTGAGAAATATTCAGAGGTTGGCCGGGCACGGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGTGGGTGGATCATTTGAGGTCAGGAGTTCGAAACCAGCCGGGCCAACATGGTGAAAGCCTATCTCTACTAAAAATATTTAAAAATCAGCTGGTCGTGGTGGCAGTCACCTGTAATTCTAGCTACTTGGGAGTCTGAGGCAGGAGAACTGCTTGAACTAGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCCTCCATTGCCCTCCATCCTGGGCAACAGAGCGAGACTCCATCTCTTAAAGAAAAAAAAGAAGGAACTATTCAGAGGTCTTAAAACACAGTGAGGGTGGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCTAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACGTGGTGAAACCCCAACTGTACTAAAAGTACAAAAAAATTAGCCGGGCTTGGTTGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATTGCTTGAACCCGGGACGCAGAGGTTGCAGTGAGCAGAGATCGCGCCACCGCACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGGGTCAGAGTGGCAACCAGAAAGATGAGTTAATCCTGGAGACTGTTCGATGGGGTATTGACAGACAACTAAATAAATTTTTAAAGACAATTAAAAATAATAAATAAGATGGAAATTTAAGATTAAAATGGTTATTTGGGAGTTGTCTACATAGAGATGGTAACTGAGAAGTTATGAGTCGATGCACTCCTTTAACTGGAACATAAAAAGAAAGAAAAATAGGTGAATAATGACTGAATATTGGGGTACTACCCCCATGAAGTAGGTTAATTAAGAAGACAAATGATCAGAAAAGTAGTGAGAAAACTGAAAAATCCTAATGCCTTGTAAGTCAGTATTAGAAAACTTTAAGAACTAAGATTTCAGCCTGAGGAAGCTGATTAAAAAATAAAAATAAAAAACCACACCAAGATTGATGGCAATAGATGTAATTGAAAAGAGGAAACAGAACTGAGGAATGATTTTTGAATTTGAGTAGGAGGAGGTCATTGGTATTTTTAGAAGAGTTTCTGTGGAATACAGAACACAGAAATCATGTTACAGAGTGTATATAGGAGGGGAAAGTATTTAAAAAGCACAGTCAAGGGATACAGGGCACTCTTGAAAATTTTAACAATTAAATGAGGTGGAAGTAGAAAAGAAAAAAGGATCATATAAATATATTAATAAACCTAGAGAATAGTGTATACTAACTATAAAATTCTTATAAAACATTTTTTAAACTTTTATGATATACCTCAAAATGCAGTATGTGCTGTATTATTAAATGGAAACACTATGTAATGAAGGTTACTTCTCTATAAAATGTTAGTAAAATAAATGATTTATCTGTATTACAGAGGAAGAGTGAAATGCTACAAAGTTTAAATAGAAGGGGGAGAAGGAAGAAAAAAAGAAGAGATAGAAAAAGGAAGAAAGAATAAGTGTAATTTGAGAAGGGAGCTAAAAAAAGGTCTGTAACTGGTAGAGACATAGTTAACAAGTGGCACATGGGGTGAGAAGCAGGTAATGGTATCTGATAGTGCTAGATATTACTATAAGATATTTTGGGCAGTTCTAAAGAAAATGAGATTATAAAACTTTCCTTGAGCAATCCAGCGATAGTAAGGAAATTCAGTAAGGTTTTAAGGAAATCCAATAAGGTTATTATCTTCCATGATGATGATTTTTGTCATTAACATTCACCTTTGTATCTCTAATACCTAACACTAAGTTAGCACTAAACAAGTTTCTATTGAACAATTAGATTTTGAACTGTGAAGATTTAGTGGAAATTTATTTGGTAATTCTTAACCATTGCATTCATAAAAGATTGTGCTTCAATTTCCTTTAGCAACTTTTAAAATTATAATTTGGACCTAATTTTTTAAAAGAGTGAAATTGTGAATTTTTAGTTATTCTACTAAACCAGCATTTGAAAAAAAAATAATAAATAACACTTGGAAGGTATGTGTATGTGTTGTGTGTATGTCTCAGAGACAGATCAGATACATTAGTAAATACCTTGCAATTCACAGATGGTATAGGATAAGGTTTTATCACATGGGGTTTCAAGGAAGAAAGTGATATACTAACTGCCATGATTATTAAATCCTTTAATTTTATCTCTCAAGTTCAATGTTGATGTTATTGATCAACACTAAGTATCTGCTTAAATGTTTACAGTATGTGAAACTCACTTGTATTTATACATAAGGCAGTATTACAACAAACTTGGGCGATGCTGCACAGATAATAGAATTAATCTTTGTAAATCTTTTTTAATATTGGTGGAGGGCAAGTATTTATTAGTTGTTTTGAGTATTCAAATAGAAACAAAACTTAAATGAAACATAAACTTATTTGTAATGTGGTTTCCATCTGGGTCATTATAACTTTGTATTATCTCCATGTAAGTGATATAAGGAAGGCTGCAGACATTGCCATTTTGCTTACAGGAAGTCTGAAACACAGAATAGTTAAATGACTTTTCCAAGGTCAAGATGAAGTGAAGATTAGAACCTAAATGCCTTATCCTCTGTCTTGGCGTTCTTCCTTCTAATTTATCTTGTCATTTTAATAGGGTGGGAGGACGGGTAAAGAGACAGGAACAGTCTCTGTGTTCTTTGCCATGGTTTCTACTAGATCATTGAGTGTTGGTCCCAGGGGTCTTCTATGTGGTTCAATATATTATATACATAAACTTAATTTTATTATCATATTTTGTAAAAATCAAAAGCCTAACATCAGAGTTGATTGTGCTTATTGGCAATGAATAGGGTTATTAAATAGTGATAAAATAGTTAATAATATTTAAGTCCATGATCTAAATACTACCTGTTAGTTAAAAGGAATTTTTAGAGCTGGGCACAGTGGTTCACACCTGTAATCTCAGCACCTTGGGAGGCTGAGGCAGGAAAATCATTTGAGGGCAGAAGTATGAGACCAGCCTGGGCAACACGGCAAGACCTTATCTCTACAAAAATATTTTTAAAAATTAGCTGGGCATGGTGCCACACTCTTGTAGTCTTAGCTATTAGGGAGGCCACTTGAGTGCAGGAGTTCAAGTTACAGTGAGCTATGATAATGCCACCGTACTCCATCCTGGGCAACAAAGTGAGAGCGTTTCTTTGAAAAAAAATTTTTTTAAAGTATATTGATTTTTCTTTCAAATGACCATTATCATAAATATTTTTGTAACATTTGATACAGTCTGGCTGGACTATAATAGAACCAATGATGTAATGAGACATAGTGACTGTTCAACCCACCCACTTACATTTGGTTCTGTAGGCATATTTGTTGTACTAGGTCCTGGAGTTTTTCCTCATCTTTACCCGCCTCCATGGGATCAGTGTTCAGGCATGTTTTCAAGTATTAAGTATGCCTTATAAACATAATAGTCTTTTTTCCCTGAATTTAGTAATACCAGAAACCATTTAAAAATACCTATCCATCATTGAAACTACCATTTGACTTATCAACAAATATTTGAGACTATTCTAAGCAAAACATTCATTAATAATGCATTAGACTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGCTGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACTAAAATATGAAAATTAGCTGGACGTGGTGGTGTGCGCCTGTAATCCAAGCTACTCGGGAGGCTGAGGCGAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCCGTCTAAAAAAAAAAAAAGAAAAAAAAATCATTAAACCTACAGCAAGGTCTCTTTAGGATTTCCAAATGTGCCTGAAGGGGATGAAAAAATAAAAAGATTGTGACACAATTTTTTTTGCTTACTTGGTATCAGAAATACCCCTGTTATTCTATCATTTATGATAGTTAGAAATTTTATTCTGTCATTCTTTTCTACAAATCCACAGG	AGA	criteria provided, single submitter	-
Duplication	NM_001204.7(BMPR2):c.1513dup (p.Met505fs)	BMPR2	Pathogenic	2	203417537	203417538	T	TA	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_202513699)_(202542467_?)del	BMPR2	Pathogenic	2	203378422	203407190	na	na	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)	ACVRL1	Pathogenic	12	52309270	52309274	TGCATC	T	criteria provided, multiple submitters, no conflicts	-