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_000118.3(ENG):c.-127C>T	ENG	Pathogenic	9	130616761	130616761	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000118.3(ENG):c.1A>C (p.Met1Leu)	ENG	Pathogenic	9	130616634	130616634	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000118.3(ENG):c.1A>G (p.Met1Val)	ENG	Pathogenic/Likely pathogenic	9	130616634	130616634	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000118.3(ENG):c.2T>G (p.Met1Arg)	ENG	Pathogenic	9	130616633	130616633	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000118.3(ENG):c.23T>C (p.Leu8Pro)	ENG	Likely pathogenic	9	130616612	130616612	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000118.3(ENG):c.41T>C (p.Leu14Pro)	ENG	Pathogenic	9	130616594	130616594	A	G	criteria provided, single submitter	-
deletion	NM_000118.3(ENG):c.41_51del (p.Leu14fs)	ENG	Pathogenic	9	130616584	130616594	TGCAGCTGGCCA	T	criteria provided, single submitter	-
deletion	NM_000118.3(ENG):c.67del (p.Ser23fs)	ENG	Pathogenic	9	130616568	130616568	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000118.3(ENG):c.67+1G>A	ENG	Pathogenic	9	130616567	130616567	C	T	criteria provided, single submitter	OMIM Allelic Variant:131195.0008
deletion	NC_000009.12:g.(?_127854269)_(127854482_?)del	ENG	Pathogenic	9	130616548	130616761	na	na	criteria provided, single submitter	-