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
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	-
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	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	-
Deletion	NM_004937.3(CTNS):c.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833
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.320_323del (p.Asn107fs)	CTNS	Likely pathogenic	17	3558384	3558387	CCAAT	C	criteria provided, single submitter	-
Deletion	NM_004937.3(CTNS):c.323del (p.Gln108fs)	CTNS	Likely pathogenic	17	3558389	3558389	CA	C	criteria provided, single submitter	ClinGen:CA10586235
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