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
single nucleotide variant	NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)	ENG	Pathogenic	9	130616612	130616612	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001114753.3(ENG):c.41_51del (p.Leu14fs)	ENG	Pathogenic	9	130616584	130616594	TGCAGCTGGCCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)	ENG	Pathogenic/Likely pathogenic	9	130616594	130616594	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989588
Deletion	NM_001114753.3(ENG):c.67del (p.Ser23fs)	ENG	Pathogenic	9	130616568	130616568	CT	C	criteria provided, single submitter	ClinGen:CA10582617
single nucleotide variant	NM_001114753.3(ENG):c.67+1G>A	ENG	Pathogenic	9	130616567	130616567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374989490,OMIM:131195.0008
Deletion	NC_000009.12:g.(?_127843088)_(127843251_?)del	ENG	Pathogenic	9	130605367	130605530	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.68-3C>G	ENG	Likely pathogenic	9	130605527	130605527	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.68-1G>A	ENG	Pathogenic/Likely pathogenic	9	130605525	130605525	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582616
Deletion	NC_000009.12:g.(?_127843094)_(127843245_?)del	ENG	Pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-
Duplication	NC_000009.11:g.(?_130605373)_(130605524_?)dup	ENG	Likely pathogenic	9	130605373	130605524	na	na	criteria provided, single submitter	-