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.869dup (p.Tyr290Ter)	CTNS	Likely pathogenic	17	3563167	3563168	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.890G>A (p.Trp297Ter)	CTNS	Pathogenic	17	3563189	3563189	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004937.3(CTNS):c.971-1dup	CTNS	Likely pathogenic	17	3563528	3563529	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.225+1G>A	CTNS	Pathogenic/Likely pathogenic	17	3552226	3552226	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004937.3(CTNS):c.562-2_562-1del	CTNS	Likely pathogenic	17	3559968	3559969	CAG	C	criteria provided, single submitter	-
Duplication	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS	Pathogenic	17	3561445	3561446	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_3647444)_(3658175_?)del	CTNS	Pathogenic	17	3550738	3561469	na	na	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.422C>T (p.Ser141Phe)	CTNS	Pathogenic/Likely pathogenic	17	3558607	3558607	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	CTNS	Pathogenic	17	3558614	3558614	C	A	criteria provided, single submitter	-