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_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
Deletion	NM_000020.3(ACVRL1):c.916del (p.Ala306fs)	ACVRL1	Pathogenic	12	52309152	52309152	CG	C	criteria provided, single submitter	ClinGen:CA16619569
single nucleotide variant	NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52312858	52312858	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619571
Deletion	NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG	SMAD4	Pathogenic	18	48584494	48584516	AGGTCAGCCTGCCAGTATACTGGG	A	criteria provided, single submitter	ClinGen:CA16620702
single nucleotide variant	NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter)	SMAD4	Pathogenic	18	48584825	48584825	C	G	criteria provided, single submitter	ClinGen:CA16620705
Deletion	NM_001114753.3(ENG):c.1410del (p.Gln471fs)	ENG	Pathogenic	9	130581013	130581013	GC	G	criteria provided, single submitter	ClinGen:CA645294054
Deletion	NM_001114753.3(ENG):c.1334del (p.Met445fs)	ENG	Pathogenic	9	130581089	130581089	CA	C	criteria provided, single submitter	ClinGen:CA645293878
single nucleotide variant	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52307020	52307020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897887
single nucleotide variant	NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)	ACVRL1	Pathogenic	12	52309054	52309054	T	C	criteria provided, single submitter	ClinGen:CA384900434
single nucleotide variant	NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309089	52309089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900562