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_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)	ACVRL1	Pathogenic	12	52307468	52307468	C	T	criteria provided, single submitter	ClinGen:CA384898875
Deletion	NM_000020.3(ACVRL1):c.525+1del	ACVRL1	Pathogenic	12	52307551	52307551	TG	T	criteria provided, single submitter	ClinGen:CA16613748
single nucleotide variant	NM_000020.3(ACVRL1):c.525+1G>A	ACVRL1	Pathogenic	12	52307555	52307555	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899370
Deletion	NC_000012.12:g.(?_51913954)_(51919135_?)del	ACVRL1	Pathogenic	12	52307738	52312919	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.526-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52307757	52307757	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs)	ACVRL1	Pathogenic	12	52307772	52307775	GTGAC	G	criteria provided, single submitter	ClinGen:CA658656299
Insertion	NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)	ACVRL1	Pathogenic	12	52307772	52307773	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656300
Deletion	NM_000020.3(ACVRL1):c.573del (p.Phe192fs)	ACVRL1	Pathogenic	12	52307802	52307802	TC	T	criteria provided, single submitter	ClinGen:CA658656301
single nucleotide variant	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1	Pathogenic	12	52307833	52307833	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899825
Deletion	NM_000020.3(ACVRL1):c.625+1del	ACVRL1	Pathogenic	12	52307856	52307856	TG	T	criteria provided, single submitter	ClinGen:CA658656303