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.1117G>T (p.Gly373Cys)	NOTCH3	Pathogenic	19	15300159	15300159	C	A	criteria provided, single submitter	ClinGen:CA404529256
single nucleotide variant	NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15302585	15302585	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA404532336
single nucleotide variant	NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr)	NOTCH3	Pathogenic	19	15302606	15302606	C	T	criteria provided, single submitter	ClinGen:CA404532528
single nucleotide variant	NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr)	NOTCH3	Pathogenic	19	15302779	15302779	C	T	criteria provided, single submitter	ClinGen:CA404533058
single nucleotide variant	NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302785	15302785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533082
single nucleotide variant	NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser)	NOTCH3	Pathogenic	19	15302816	15302816	A	T	criteria provided, single submitter	ClinGen:CA404533226
single nucleotide variant	NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	NOTCH3	Pathogenic/Likely pathogenic	19	15302831	15302831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9263848
single nucleotide variant	NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302848	15302848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533376
single nucleotide variant	NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr)	NOTCH3	Pathogenic/Likely pathogenic	19	15302896	15302896	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA404533592
single nucleotide variant	NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe)	NOTCH3	Pathogenic	19	15302929	15302929	C	A	criteria provided, single submitter	ClinGen:CA404533735