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_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
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_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9	Pathogenic	13	37439797	37439797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211296,OMIM:603295.0003
single nucleotide variant	NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)	KCNK3	Likely pathogenic	2	26950616	26950616	T	C	criteria provided, single submitter	-
Deletion	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	CAV1	Pathogenic	7	116199282	116199283	CTT	C	criteria provided, single submitter	ClinGen:CA204643,OMIM:601047.0006
Indel	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	CAV1	Pathogenic	7	116199205	116199206	TT	A	criteria provided, single submitter	ClinGen:CA211312
single nucleotide variant	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	CAV1	Pathogenic	7	116166660	116166660	G	T	criteria provided, single submitter	ClinGen:CA277955,OMIM:601047.0001
Deletion	NC_000002.12:g.(?_202513699)_(202530974_?)del	BMPR2	Pathogenic	2	203378422	203395697	na	na	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_202513709)_(202520211_?)del	BMPR2	Pathogenic	2	203378432	203384934	na	na	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.2216del (p.Pro739fs)	BMPR2	Pathogenic	2	203420603	203420603	GC	G	criteria provided, multiple submitters, no conflicts	-