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.853-1G>A	CTNS	Likely pathogenic	17	3563151	3563151	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.853-2A>G	CTNS	Pathogenic/Likely pathogenic	17	3563150	3563150	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397692891
Duplication	NM_004937.3(CTNS):c.829dup (p.Thr277fs)	CTNS	Pathogenic	17	3561445	3561446	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Likely pathogenic	17	3561424	3561426	TCTC	T	criteria provided, single submitter	ClinGen:CA278481
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