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.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
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.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
Deletion	NM_004937.3(CTNS):c.320_323del (p.Asn107fs)	CTNS	Likely pathogenic	17	3558384	3558387	CCAAT	C	criteria provided, single submitter	-
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.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833
Indel	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Likely pathogenic	17	3552230	3552231	GT	CC	criteria provided, single submitter	ClinGen:CA278476
single nucleotide variant	NM_004937.3(CTNS):c.225+1G>A	CTNS	Pathogenic/Likely pathogenic	17	3552226	3552226	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004937.3(CTNS):c.206_210del (p.Ile69fs)	CTNS	Pathogenic	17	3552206	3552210	ATCCTT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA287009070,OMIM:606272.0010