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.429C>A (p.Tyr143Ter)	CTNS	Pathogenic	17	3558614	3558614	C	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647444)_(3658175_?)del	CTNS	Pathogenic	17	3550738	3561469	na	na	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	-
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	-
single nucleotide variant	NM_004937.3(CTNS):c.681G>A (p.Glu227=)	CTNS	Pathogenic	17	3560089	3560089	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.971-12G>A	CTNS	Pathogenic	17	3563518	3563518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291997
Deletion	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS	Pathogenic	17	3539712	3560109	na	na	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.771_793del (p.Gly258fs)	CTNS	Pathogenic	17	3561376	3561398	TCGTGGCTGCAGTGGGAGTGACCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291885
Deletion	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS	Pathogenic	17	3552206	3552210	ATCCTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA287009070,OMIM:606272.0010
Deletion	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS	Pathogenic	17	3539712	3561489	na	na	criteria provided, single submitter	-