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.320_323del (p.Asn107fs)	CTNS	Likely pathogenic	17	3558384	3558387	CCAAT	C	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.20del (p.Thr7fs)	CTNS	Likely pathogenic	17	3543520	3543520	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.62-2A>G	CTNS	Likely pathogenic	17	3550736	3550736	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.-19-1G>A	CTNS	Likely pathogenic	17	3543481	3543481	G	A	criteria provided, single submitter	-
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
single nucleotide variant	NM_004937.3(CTNS):c.1102T>C (p.Ter368Gln)	CTNS	Likely pathogenic	17	3563661	3563661	T	C	criteria provided, single submitter	ClinGen:CA16041839
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
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
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.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833