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
single nucleotide variant	NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter)	BMPR2	Pathogenic	2	203407105	203407105	C	T	criteria provided, single submitter	ClinGen:CA64034679
Deletion	NM_001204.7(BMPR2):c.1342del (p.Asp448fs)	BMPR2	Pathogenic	2	203407098	203407098	AG	A	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_001204.7(BMPR2):c.1276+1G>A	BMPR2	Likely pathogenic	2	203397456	203397456	G	A	criteria provided, single submitter	ClinGen:CA2061325
single nucleotide variant	NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg)	BMPR2	Likely pathogenic	2	203397455	203397455	G	C	criteria provided, single submitter	ClinGen:CA351929
single nucleotide variant	NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr)	BMPR2	Pathogenic	2	203397438	203397438	G	A	criteria provided, single submitter	ClinGen:CA350341979
single nucleotide variant	NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)	BMPR2	Likely pathogenic	2	203397420	203397420	G	A	criteria provided, single submitter	ClinGen:CA350341931
single nucleotide variant	NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter)	BMPR2	Pathogenic	2	203397386	203397386	C	T	criteria provided, single submitter	ClinGen:CA64029555
Deletion	NM_001204.7(BMPR2):c.1148del (p.Met383fs)	BMPR2	Pathogenic	2	203397327	203397327	AT	A	criteria provided, single submitter	ClinGen:CA658655725
Duplication	NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs)	BMPR2	Pathogenic	2	203397319	203397320	C	CAG	criteria provided, single submitter	ClinGen:CA658796144