シスチノーシス

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
single nucleotide variant	NM_004937.3(CTNS):c.62-1G>A	CTNS	Pathogenic	17	3550737	3550737	G	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS	Pathogenic	17	3539712	3561479	na	na	criteria provided, single submitter	-
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	-
Deletion	NC_000017.11:g.(?_3657995)_(3660744_?)del	CTNS	Pathogenic	17	3561289	3564038	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Pathogenic	17	3550718	3552245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.140+1G>T	CTNS	Pathogenic	17	3550817	3550817	G	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Pathogenic	17	3550728	3552235	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	CTNS	Pathogenic	17	3558614	3558614	C	A	criteria provided, single submitter	-
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	-
Deletion	NM_004937.3(CTNS):c.423del (p.Phe142fs)	CTNS	Likely pathogenic	17	3558607	3558607	TC	T	criteria provided, single submitter	-