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
Duplication	NM_004937.3(CTNS):c.516dup (p.Tyr173fs)	CTNS	Pathogenic	17	3559833	3559834	G	GC	criteria provided, single submitter	ClinGen:CA658658523
Duplication	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS	Pathogenic	17	3560053	3560054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041835
Deletion	NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)	CTNS	Pathogenic	17	3559837	3559838	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291763
single nucleotide variant	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Pathogenic	17	3563221	3563221	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291955,UniProtKB:O60931#VAR_010692
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
Duplication	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	17	3561312	3561313	G	GC	criteria provided, single submitter	ClinGen:CA342079
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
single nucleotide variant	NM_004937.3(CTNS):c.969C>G (p.Asn323Lys)	CTNS	Pathogenic	17	3563268	3563268	C	G	criteria provided, single submitter	ClinGen:CA253164,UniProtKB:O60931#VAR_010288,OMIM:606272.0016
single nucleotide variant	NM_004937.3(CTNS):c.1015G>A (p.Gly339Arg)	CTNS	Pathogenic	17	3563574	3563574	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278067,UniProtKB:O60931#VAR_010695,OMIM:606272.0015
Deletion	NC_000017.11:g.3600934_3658165del	CTNS	Pathogenic	17	3504228	3561459	na	na	criteria provided, single submitter	dbVar:nssv3761567,OMIM:606272.0005