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.1142T>A (p.Leu381Ter)	SMAD4	Pathogenic	18	48593391	48593391	T	A	criteria provided, single submitter	ClinGen:CA339552
Deletion	NM_005359.6(SMAD4):c.1515del (p.Phe505fs)	SMAD4	Pathogenic/Likely pathogenic	18	48604690	48604690	GT	G	criteria provided, single submitter	ClinGen:CA349749
Deletion	NM_005359.5(SMAD4):c.(?_-538)_1139+?del	SMAD4	Pathogenic	18	48556583	48591976	na	na	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)	SMAD4	Pathogenic	18	48584805	48584814	GCCGCCCCATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353499
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.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973
single nucleotide variant	NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)	SMAD4	Pathogenic	18	48586262	48586262	C	T	criteria provided, single submitter	ClinGen:CA10580984
single nucleotide variant	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4	Likely pathogenic	18	48591925	48591925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580985
Duplication	NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs)	SMAD4	Pathogenic/Likely pathogenic	18	48603038	48603039	A	ATGCAGCAGCAGGCGGCTACTGCACAAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580987
Duplication	NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs)	SMAD4	Pathogenic	18	48604762	48604763	C	CTT	criteria provided, single submitter	ClinGen:CA10580992