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_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter)	SMAD4	Pathogenic	18	48593488	48593488	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299967
Indel	NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)	SMAD4	Pathogenic	18	48575132	48575132	T	AAATATGAAC	criteria provided, single submitter	ClinGen:CA234927
Duplication	NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)	SMAD4	Pathogenic	18	48604724	48604725	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270878
Deletion	NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)	SMAD4	Pathogenic	18	48593491	48593494	TAGAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259232,OMIM:600993.0005
single nucleotide variant	NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter)	SMAD4	Pathogenic	18	48603044	48603044	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA163884
single nucleotide variant	NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SMAD4	Pathogenic	18	48604676	48604676	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA128979,UniProtKB:Q13485#VAR_067604,UniProtKB/Swiss-Prot:VAR_067604,OMIM:600993.0016
single nucleotide variant	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4	Pathogenic	18	48604677	48604677	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA128977,UniProtKB:Q13485#VAR_067603,UniProtKB/Swiss-Prot:VAR_067603,OMIM:600993.0015
Duplication	NM_005359.6(SMAD4):c.1587dup (p.His530fs)	SMAD4	Pathogenic	18	48604764	48604765	T	TA	criteria provided, single submitter	ClinGen:CA259264
Deletion	NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs)	SMAD4	Pathogenic	18	48603060	48603063	GCACA	G	criteria provided, single submitter	ClinGen:CA259239
single nucleotide variant	NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)	SMAD4	Pathogenic	18	48603032	48603032	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA189448,OMIM:600993.0014