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	NC_000017.11:g.(?_3657995)_(3660744_?)del	CTNS	Pathogenic	17	3561289	3564038	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.681+2T>C	CTNS	Likely pathogenic	17	3560091	3560091	T	C	criteria provided, single submitter	ClinGen:CA16041836
Deletion	NM_004937.3(CTNS):c.681+1del	CTNS	Likely pathogenic	17	3560089	3560089	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS	Pathogenic	17	3560089	3560089	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS	Pathogenic	17	3560053	3560054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041835
single nucleotide variant	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS	Pathogenic	17	3560021	3560021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342077,UniProtKB:O60931#VAR_010683
Deletion	NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)	CTNS	Likely pathogenic	17	3560000	3560000	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)	CTNS	Pathogenic/Likely pathogenic	17	3559997	3559997	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278463,UniProtKB:O60931#VAR_010682,OMIM:606272.0011
Deletion	NM_004937.3(CTNS):c.562-2_562-1del	CTNS	Likely pathogenic	17	3559968	3559969	CAG	C	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.561+1del	CTNS	Pathogenic/Likely pathogenic	17	3559880	3559880	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278484