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.1242del (p.Asp415fs)	SMAD4	Pathogenic	18	48593491	48593491	TA	T	criteria provided, single submitter	ClinGen:CA259233
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
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.1529G>T (p.Gly510Val)	SMAD4	Likely pathogenic	18	48604707	48604707	G	T	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.1587dup (p.His530fs)	SMAD4	Pathogenic	18	48604764	48604765	T	TA	criteria provided, single submitter	ClinGen:CA259264
single nucleotide variant	NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro)	SMAD4	Likely pathogenic	18	48604776	48604776	T	C	criteria provided, single submitter	-
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
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.1139G>A (p.Arg380Lys)	SMAD4	Pathogenic/Likely pathogenic	18	48591976	48591976	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA259219
single nucleotide variant	NM_005359.6(SMAD4):c.424+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48575231	48575231	G	A	criteria provided, multiple submitters, no conflicts	-