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	NM_001114753.3(ENG):c.1410del (p.Gln471fs)	ENG	Pathogenic	9	130581013	130581013	GC	G	criteria provided, single submitter	ClinGen:CA645294054
single nucleotide variant	NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	ENG	Pathogenic	9	130587611	130587611	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618750
Deletion	NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	ENG	Pathogenic	9	130587601	130587605	GCAGCT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618749
Deletion	NM_001114753.3(ENG):c.895del (p.Leu299fs)	ENG	Pathogenic/Likely pathogenic	9	130587175	130587175	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618748
Insertion	NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs)	ENG	Pathogenic	9	130581059	130581060	T	TG	criteria provided, single submitter	ClinGen:CA16618746
Deletion	NM_001114753.3(ENG):c.1657del (p.Leu553fs)	ENG	Pathogenic/Likely pathogenic	9	130580428	130580428	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618745
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.219G>A (p.Thr73=)	ENG	Pathogenic/Likely pathogenic	9	130605373	130605373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5253209
single nucleotide variant	NM_001114753.3(ENG):c.360+5G>C	ENG	Pathogenic/Likely pathogenic	9	130591961	130591961	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612712
Indel	NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)	ENG	Pathogenic	9	130586657	130586688	GCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG	CCACCAT	criteria provided, single submitter	ClinGen:CA16612700