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.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.198_218del (p.Ile67_Pro73del)	CTNS	Pathogenic/Likely pathogenic	17	3552198	3552218	ATATTACTATCCTTGAGCTCCC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342073
single nucleotide variant	NM_004937.3(CTNS):c.140+1G>T	CTNS	Pathogenic	17	3550817	3550817	G	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647444)_(3658175_?)del	CTNS	Pathogenic	17	3550738	3561469	na	na	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.62-2A>G	CTNS	Likely pathogenic	17	3550736	3550736	A	G	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647434)_(3648941_?)del	CTNS	Pathogenic	17	3550728	3552235	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_3647424)_(3648951_?)del	CTNS	Pathogenic	17	3550718	3552245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004937.3(CTNS):c.61+1G>A	CTNS	Likely pathogenic	17	3543562	3543562	G	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	-