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
Deletion	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS	Likely pathogenic	17	3543520	3543520	AC	A	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS	Pathogenic	17	3543516	3543519	GCTGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278471,OMIM:606272.0004
single nucleotide variant	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Likely pathogenic	17	3543481	3543481	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	-
Deletion	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS	Pathogenic	17	3539712	3560109	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS	Pathogenic	17	3539712	3561489	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.3600934_3658165del	CTNS	Pathogenic	17	3504228	3561459	na	na	criteria provided, single submitter	dbVar:nssv3761567,OMIM:606272.0005