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
Duplication	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	17	3561312	3561313	G	GC	criteria provided, single submitter	ClinGen:CA342079
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
Deletion	NM_004937.3(CTNS):c.18_21del (p.Thr7fs)	CTNS	Pathogenic	17	3543516	3543519	GCTGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278471,OMIM:606272.0004
Deletion	NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del)	CTNS	Likely pathogenic	17	3552199	3552219	TATTACTATCCTTGAGCTCCCC	T	criteria provided, single submitter	ClinGen:CA278477
Indel	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Likely pathogenic	17	3552230	3552231	GT	CC	criteria provided, single submitter	ClinGen:CA278476
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.561+1del	CTNS	Pathogenic/Likely pathogenic	17	3559880	3559880	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278484
Deletion	NM_004937.3(CTNS):c.809_811del (p.Ser270del)	CTNS	Likely pathogenic	17	3561424	3561426	TCTC	T	criteria provided, single submitter	ClinGen:CA278481
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.323del (p.Gln108fs)	CTNS	Likely pathogenic	17	3558389	3558389	CA	C	criteria provided, single submitter	ClinGen:CA10586235