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.681+2T>C	CTNS	Likely pathogenic	17	3560091	3560091	T	C	criteria provided, single submitter	ClinGen:CA16041836
Duplication	NM_004937.3(CTNS):c.646dup (p.Thr216fs)	CTNS	Pathogenic	17	3560053	3560054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041835
Deletion	NM_004937.3(CTNS):c.519_520del (p.Tyr173_Ser174delinsTer)	CTNS	Pathogenic	17	3559837	3559838	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291763
Deletion	NM_004937.3(CTNS):c.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833
single nucleotide variant	NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)	CTNS	Pathogenic	17	3563221	3563221	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8291955,UniProtKB:O60931#VAR_010692
single nucleotide variant	NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)	CTNS	Likely pathogenic	17	3559863	3559863	T	C	criteria provided, single submitter	ClinGen:CA8291771,UniProtKB:O60931#VAR_010681
single nucleotide variant	NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)	CTNS	Pathogenic/Likely pathogenic	17	3558567	3558567	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590106
Deletion	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS	Likely pathogenic	17	3558389	3558389	CA	C	criteria provided, single submitter	ClinGen:CA10586235
Duplication	NM_004937.3(CTNS):c.926dup (p.Ser310fs)	CTNS	Pathogenic/Likely pathogenic	17	3563220	3563221	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA278465
Deletion	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Likely pathogenic	17	3561424	3561426	TCTC	T	criteria provided, single submitter	ClinGen:CA278481