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.870C>G (p.Tyr290Ter)	CTNS	Pathogenic/Likely pathogenic	17	3563169	3563169	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397692982
Duplication	NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)	CTNS	Likely pathogenic	17	3563167	3563168	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.853-1G>A	CTNS	Likely pathogenic	17	3563151	3563151	G	A	criteria provided, single submitter	-
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
Deletion	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS	Pathogenic	17	3539712	3561489	na	na	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.(?_3647444)_(3658175_?)del	CTNS	Pathogenic	17	3550738	3561469	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
Duplication	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS	Pathogenic	17	3561445	3561446	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Likely pathogenic	17	3561424	3561426	TCTC	T	criteria provided, single submitter	ClinGen:CA278481