皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15290279	15290279	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404512422
single nucleotide variant	NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15290914	15290914	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404513034
single nucleotide variant	NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15290984	15290984	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404513546
single nucleotide variant	NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys)	NOTCH3	Pathogenic	19	15291543	15291543	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514218
single nucleotide variant	NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe)	NOTCH3	Pathogenic	19	15291569	15291569	C	A	criteria provided, single submitter	ClinGen:CA404514274
single nucleotide variant	NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15291572	15291572	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514283
single nucleotide variant	NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys)	NOTCH3	Pathogenic	19	15291594	15291594	G	A	criteria provided, single submitter	ClinGen:CA404514328
single nucleotide variant	NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)	NOTCH3	Pathogenic	19	15291618	15291618	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514381
single nucleotide variant	NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr)	NOTCH3	Pathogenic	19	15291623	15291623	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404514396
single nucleotide variant	NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly)	NOTCH3	Pathogenic	19	15291777	15291777	A	C	criteria provided, single submitter	ClinGen:CA404514458