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.944A>G (p.Gln315Arg)	CTNS	Likely pathogenic	17	3563243	3563243	A	G	criteria provided, single submitter	ClinGen:CA16620398
Duplication	NM_004937.3(CTNS):c.516dup (p.Tyr173fs)	CTNS	Pathogenic	17	3559833	3559834	G	GC	criteria provided, single submitter	ClinGen:CA658658523
Deletion	NC_000017.11:g.(?_3636418)_(3658195_?)del	CTNS	Pathogenic	17	3539712	3561489	na	na	criteria provided, single submitter	-
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
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
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.870C>G (p.Tyr290Ter)	CTNS	Pathogenic/Likely pathogenic	17	3563169	3563169	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397692982
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.971-12G>A	CTNS	Pathogenic	17	3563518	3563518	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291997
single nucleotide variant	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Likely pathogenic	17	3543481	3543481	G	A	criteria provided, single submitter	-