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.-19-1G>A	CTNS	Likely pathogenic	17	3543481	3543481	G	A	criteria provided, single submitter	-
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.20del (p.Thr7fs)	CTNS	Likely pathogenic	17	3543520	3543520	AC	A	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.40del (p.Pro13_Leu14insTer)	CTNS	Pathogenic/Likely pathogenic	17	3543537	3543537	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004937.3(CTNS):c.61+1G>A	CTNS	Likely pathogenic	17	3543562	3543562	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.62-2A>G	CTNS	Likely pathogenic	17	3550736	3550736	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.62-1G>A	CTNS	Pathogenic	17	3550737	3550737	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.140+1G>T	CTNS	Pathogenic	17	3550817	3550817	G	T	criteria provided, single submitter	-
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
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