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
Duplication	NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs)	ACVRL1	Pathogenic	12	52312844	52312845	T	TGG	criteria provided, single submitter	ClinGen:CA658656296
Deletion	NM_000020.3(ACVRL1):c.573del (p.Phe192fs)	ACVRL1	Pathogenic	12	52307802	52307802	TC	T	criteria provided, single submitter	ClinGen:CA658656301
Deletion	NM_000020.3(ACVRL1):c.641del (p.Gly214fs)	ACVRL1	Pathogenic	12	52308237	52308237	TG	T	criteria provided, single submitter	ClinGen:CA658656304
single nucleotide variant	NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)	ACVRL1	Pathogenic	12	52309160	52309160	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901042
Deletion	NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs)	ACVRL1	Pathogenic	12	52312770	52312789	GCATCGTGGAGGACTATAGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656295
single nucleotide variant	NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	ACVRL1	Likely pathogenic	12	52306969	52306969	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897700
Insertion	NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)	ACVRL1	Pathogenic	12	52307772	52307773	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656300
Deletion	NM_000020.3(ACVRL1):c.625+1del	ACVRL1	Pathogenic	12	52307856	52307856	TG	T	criteria provided, single submitter	ClinGen:CA658656303
single nucleotide variant	NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser)	ACVRL1	Pathogenic	12	52309228	52309228	T	C	criteria provided, single submitter	ClinGen:CA384901479
single nucleotide variant	NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)	ACVRL1	Pathogenic	12	52314578	52314578	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384905493