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.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.506G>A (p.Gly169Asp)	CTNS	Likely pathogenic	17	3559825	3559825	G	A	criteria provided, single submitter	ClinGen:CA278065,UniProtKB:O60931#VAR_010286,OMIM:606272.0006
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
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
single nucleotide variant	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS	Pathogenic/Likely pathogenic	17	3558601	3558601	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116861,UniProtKB:O60931#VAR_010678,OMIM:606272.0018
Deletion	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Pathogenic/Likely pathogenic	17	3552198	3552218	ATATTACTATCCTTGAGCTCCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342073
single nucleotide variant	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS	Pathogenic/Likely pathogenic	17	3559792	3559792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342075,UniProtKB:O60931#VAR_010680
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