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.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833
Duplication	NM_004937.3(CTNS):c.292dup (p.Thr98fs)	CTNS	Likely pathogenic	17	3558357	3558358	T	TA	criteria provided, single submitter	ClinGen:CA278469
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.323del (p.Gln108fs)	CTNS	Likely pathogenic	17	3558389	3558389	CA	C	criteria provided, single submitter	ClinGen:CA10586235
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
single nucleotide variant	NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)	CTNS	Pathogenic	17	3558599	3558599	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA340259,OMIM:606272.0003
single nucleotide variant	NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)	CTNS	Pathogenic/Likely pathogenic	17	3558601	3558601	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116861,UniProtKB:O60931#VAR_010678,OMIM:606272.0018
Deletion	NM_004937.3(CTNS):c.423del (p.Phe142fs)	CTNS	Likely pathogenic	17	3558607	3558607	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.422C>T (p.Ser141Phe)	CTNS	Pathogenic/Likely pathogenic	17	3558607	3558607	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.429C>A (p.Tyr143Ter)	CTNS	Pathogenic	17	3558614	3558614	C	A	criteria provided, single submitter	-