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.451A>G (p.Arg151Gly)	CTNS	Likely pathogenic	17	3558636	3558636	A	G	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	-
Duplication	NM_004937.3(CTNS):c.869dup (p.Tyr290Ter)	CTNS	Likely pathogenic	17	3563167	3563168	T	TA	criteria provided, single submitter	-
Duplication	NM_004937.3(CTNS):c.971-1dup	CTNS	Likely pathogenic	17	3563528	3563529	A	AG	criteria provided, single submitter	-
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.423del (p.Phe142fs)	CTNS	Likely pathogenic	17	3558607	3558607	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS	Pathogenic	17	3558599	3558599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340259,OMIM:606272.0003
Deletion	NC_000017.11:g.3600934_3658165del	CTNS	Pathogenic	17	3504228	3561459	na	na	criteria provided, single submitter	dbVar:nssv3761567,OMIM:606272.0005
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
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