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.97C>T (p.Gln33Ter)	ENG	Pathogenic	9	130605495	130605495	G	A	criteria provided, single submitter	-
Deletion	NM_001114753.3(ENG):c.98_101del (p.Gln33fs)	ENG	Pathogenic	9	130605491	130605494	AGGCT	A	criteria provided, single submitter	ClinGen:CA658656053
Deletion	NM_001114753.3(ENG):c.119del (p.Gly40fs)	ENG	Pathogenic	9	130605473	130605473	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	ENG	Pathogenic	9	130605447	130605447	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	ENG	Pathogenic/Likely pathogenic	9	130605437	130605437	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)	ENG	Pathogenic	9	130605426	130605426	G	A	criteria provided, multiple submitters, no conflicts	-
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.219+1G>A	ENG	Pathogenic	9	130605372	130605372	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA374988833
Deletion	Single allele	ENG	Pathogenic	9	130577648	130605372	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001114753.3(ENG):c.219+5G>C	ENG	Pathogenic/Likely pathogenic	9	130605368	130605368	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656052