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.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
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.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
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.62-1G>A	CTNS	Pathogenic	17	3550737	3550737	G	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3636418)_(3658185_?)del	CTNS	Pathogenic	17	3539712	3561479	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3657995)_(3660744_?)del	CTNS	Pathogenic	17	3561289	3564038	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Pathogenic	17	3550718	3552245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.140+1G>T	CTNS	Pathogenic	17	3550817	3550817	G	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Pathogenic	17	3550728	3552235	na	na	criteria provided, single submitter	-