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_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	T	criteria provided, single submitter	ClinGen:CA384903729
single nucleotide variant	NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)	ENG	Likely pathogenic	9	130582231	130582231	C	T	criteria provided, single submitter	ClinGen:CA374978426
Duplication	NC_000009.11:g.(?_130586563)_(130592126_?)dup	ENG	Likely pathogenic	9	130586563	130592126	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	ACVRL1	Likely pathogenic	12	52306969	52306969	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897700
single nucleotide variant	NM_005359.6(SMAD4):c.905-1G>A	SMAD4	Likely pathogenic	18	48586235	48586235	G	A	criteria provided, single submitter	ClinGen:CA402463631
single nucleotide variant	NM_005359.6(SMAD4):c.250-2A>G	SMAD4	Likely pathogenic	18	48575054	48575054	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458160
Deletion	NM_001114753.3(ENG):c.896_991+90del	ENG	Likely pathogenic	9	130586989	130587174	GCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA	G	criteria provided, single submitter	ClinGen:CA658797291
Deletion	NM_001114753.3(ENG):c.408del (p.Glu137fs)	ENG	Likely pathogenic	9	130588904	130588904	CT	C	criteria provided, single submitter	ClinGen:CA658797296
single nucleotide variant	NM_005359.6(SMAD4):c.250-1G>C	SMAD4	Likely pathogenic	18	48575055	48575055	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458163
Deletion	NM_001114753.3(ENG):c.583del (p.Glu195fs)	ENG	Likely pathogenic	9	130588080	130588080	TC	T	criteria provided, single submitter	ClinGen:CA658797294