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.561+1del	CTNS	Pathogenic/Likely pathogenic	17	3559880	3559880	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278484
Duplication	NM_004937.3(CTNS):c.292dup (p.Thr98fs)	CTNS	Likely pathogenic	17	3558357	3558358	T	TA	criteria provided, single submitter	ClinGen:CA278469
Indel	NM_004937.3(CTNS):c.225+5_225+6delinsCC	CTNS	Likely pathogenic	17	3552230	3552231	GT	CC	criteria provided, single submitter	ClinGen:CA278476
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
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.559_561+24del	CTNS	Pathogenic/Likely pathogenic	17	3559867	3559893	GTGCCCTACATCAAGGTACGGCCTTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342080
Duplication	NM_004937.3(CTNS):c.696dup (p.Val233fs)	CTNS	Pathogenic	17	3561312	3561313	G	GC	criteria provided, single submitter	ClinGen:CA342079
single nucleotide variant	NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)	CTNS	Pathogenic	17	3560021	3560021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342077,UniProtKB:O60931#VAR_010683
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
Deletion	NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)	CTNS	Pathogenic/Likely pathogenic	17	3552198	3552218	ATATTACTATCCTTGAGCTCCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342073