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_005359.6(SMAD4):c.69del (p.Met24fs)	SMAD4	Pathogenic	18	48573485	48573485	TG	T	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.153dup (p.Asp52fs)	SMAD4	Pathogenic	18	48573563	48573564	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA197041
Deletion	NM_005359.6(SMAD4):c.153del (p.Asp52fs)	SMAD4	Pathogenic	18	48573564	48573564	GA	G	criteria provided, single submitter	ClinGen:CA10580972
single nucleotide variant	NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter)	SMAD4	Pathogenic	18	48573663	48573663	C	T	criteria provided, single submitter	-
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
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_005359.6(SMAD4):c.263_267del (p.Lys88fs)	SMAD4	Pathogenic	18	48575066	48575070	CGGAAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615823
Deletion	NM_005359.6(SMAD4):c.275_276del (p.His92fs)	SMAD4	Pathogenic	18	48575081	48575082	CAT	C	criteria provided, single submitter	ClinGen:CA658658740
single nucleotide variant	NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973
Indel	NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)	SMAD4	Pathogenic	18	48575132	48575132	T	AAATATGAAC	criteria provided, single submitter	ClinGen:CA234927