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.40del (p.Pro13_Leu14insTer)	CTNS	Pathogenic/Likely pathogenic	17	3543537	3543537	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.62-2A>G	CTNS	Likely pathogenic	17	3550736	3550736	A	G	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	-
Deletion	NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	CTNS	Likely pathogenic	17	3558384	3558387	CCAAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.61+1G>A	CTNS	Likely pathogenic	17	3543562	3543562	G	A	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.592del (p.Gly197_Val198insTer)	CTNS	Likely pathogenic	17	3560000	3560000	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	-
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.451A>G (p.Arg151Gly)	CTNS	Likely pathogenic	17	3558636	3558636	A	G	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	-