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
Deletion	NM_000020.3(ACVRL1):c.190del (p.Gln64fs)	ACVRL1	Pathogenic	12	52307007	52307007	AC	A	criteria provided, single submitter	ClinGen:CA16614036
single nucleotide variant	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1	Pathogenic	12	52307011	52307011	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52307020	52307020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897887
single nucleotide variant	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
single nucleotide variant	NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307027	52307027	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897900
Duplication	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)	ACVRL1	Pathogenic	12	52307053	52307054	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)	ACVRL1	Pathogenic	12	52307085	52307085	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52307086	52307086	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384898033
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.267C>G (p.Cys89Trp)	ACVRL1	Likely pathogenic	12	52307088	52307088	C	G	criteria provided, single submitter	-