遺伝性出血性末梢血管拡張症 (オスラー病)

小児・神経疾患

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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	NC_000009.12:g.(?_127815012)_(127854773_?)del	ENG	Pathogenic	9	130577291	130617052	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127854279)_(127854482_?)del	ENG	Pathogenic	9	130616558	130616761	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127824284)_(127854482_?)del	ENG	Pathogenic	9	130586563	130616761	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127854269)_(127854482_?)del	ENG	Pathogenic	9	130616548	130616761	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.-127C>T	ENG	Pathogenic/Likely pathogenic	9	130616761	130616761	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612603
Deletion	NM_001114753.3(ENG):c.-8_8del (p.Met1fs)	ENG	Pathogenic	9	130616627	130616642	GCGGTCCATGCTGTCCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1A>C (p.Met1Leu)	ENG	Pathogenic	9	130616634	130616634	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.1A>G (p.Met1Val)	ENG	Pathogenic	9	130616634	130616634	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612719
single nucleotide variant	NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	ENG	Pathogenic	9	130616633	130616633	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989708
single nucleotide variant	NM_001114753.3(ENG):c.2T>C (p.Met1Thr)	ENG	Pathogenic	9	130616633	130616633	A	G	criteria provided, single submitter	ClinGen:CA257569,OMIM:131195.0006