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.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.559_561+24del	CTNS	Pathogenic/Likely pathogenic	17	3559867	3559893	GTGCCCTACATCAAGGTACGGCCTTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342080
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
single nucleotide variant	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	CTNS	Likely pathogenic	17	3559863	3559863	T	C	criteria provided, single submitter	ClinGen:CA8291771,UniProtKB:O60931#VAR_010681
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
Duplication	NM_004937.3(CTNS):c.516dup (p.Tyr173fs)	CTNS	Pathogenic	17	3559833	3559834	G	GC	criteria provided, single submitter	ClinGen:CA658658523
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