シスチノーシス

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.559_561+24del	CTNS	Pathogenic/Likely pathogenic	17	3559867	3559893	GTGCCCTACATCAAGGTACGGCCTTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342080
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
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
Duplication	NM_004937.3(CTNS):c.516dup (p.Tyr173fs)	CTNS	Pathogenic	17	3559833	3559834	G	GC	criteria provided, single submitter	ClinGen:CA658658523
single nucleotide variant	NM_004937.3(CTNS):c.506G>A (p.Gly169Asp)	CTNS	Likely pathogenic	17	3559825	3559825	G	A	criteria provided, single submitter	ClinGen:CA278065,UniProtKB:O60931#VAR_010286,OMIM:606272.0006
single nucleotide variant	NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)	CTNS	Pathogenic/Likely pathogenic	17	3559792	3559792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342075,UniProtKB:O60931#VAR_010680
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.429C>A (p.Tyr143Ter)	CTNS	Pathogenic	17	3558614	3558614	C	A	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	-
Deletion	NM_004937.3(CTNS):c.423del (p.Phe142fs)	CTNS	Likely pathogenic	17	3558607	3558607	TC	T	criteria provided, single submitter	-