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
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
single nucleotide variant	NM_004937.3(CTNS):c.734G>A (p.Trp245Ter)	CTNS	Likely pathogenic	17	3561351	3561351	G	A	criteria provided, single submitter	ClinGen:CA16041838
Duplication	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	17	3561312	3561313	G	GC	criteria provided, single submitter	ClinGen:CA342079
single nucleotide variant	NM_004937.3(CTNS):c.682-1G>T	CTNS	Pathogenic/Likely pathogenic	17	3561298	3561298	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.682-1G>A	CTNS	Likely pathogenic	17	3561298	3561298	G	A	criteria provided, single submitter	ClinGen:CA16041837
Deletion	NC_000017.11:g.(?_3636418)_(3656815_?)del	CTNS	Pathogenic	17	3539712	3560109	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.681+2T>C	CTNS	Likely pathogenic	17	3560091	3560091	T	C	criteria provided, single submitter	ClinGen:CA16041836
Deletion	NM_004937.3(CTNS):c.681+1del	CTNS	Likely pathogenic	17	3560089	3560089	AG	A	criteria provided, single submitter	-
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	-
Duplication	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS	Pathogenic	17	3560053	3560054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041835