シスチノーシス

小児・神経疾患

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_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS	Pathogenic/Likely pathogenic	17	3558567	3558567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590106
single nucleotide variant	NM_004937.3(CTNS):c.853-2A>G	CTNS	Pathogenic/Likely pathogenic	17	3563150	3563150	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397692891
single nucleotide variant	NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)	CTNS	Pathogenic/Likely pathogenic	17	3563169	3563169	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397692982
Deletion	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Pathogenic/Likely pathogenic	17	3543537	3543537	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.225+1G>A	CTNS	Pathogenic/Likely pathogenic	17	3552226	3552226	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	CTNS	Pathogenic/Likely pathogenic	17	3558607	3558607	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.682-1G>T	CTNS	Pathogenic/Likely pathogenic	17	3561298	3561298	G	T	criteria provided, multiple submitters, no conflicts	-