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.506G>A (p.Gly169Asp)	CTNS	Likely pathogenic	17	3559825	3559825	G	A	criteria provided, single submitter	ClinGen:CA278065,UniProtKB:O60931#VAR_010286,OMIM:606272.0006
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.809_811del (p.Ser270del)	CTNS	Likely pathogenic	17	3561424	3561426	TCTC	T	criteria provided, single submitter	ClinGen:CA278481
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.544T>C (p.Trp182Arg)	CTNS	Likely pathogenic	17	3559863	3559863	T	C	criteria provided, single submitter	ClinGen:CA8291771,UniProtKB:O60931#VAR_010681
Deletion	NM_004937.3(CTNS):c.251del (p.Asn84fs)	CTNS	Likely pathogenic	17	3558315	3558315	CA	C	criteria provided, single submitter	ClinGen:CA16041833
single nucleotide variant	NM_004937.3(CTNS):c.681+2T>C	CTNS	Likely pathogenic	17	3560091	3560091	T	C	criteria provided, single submitter	ClinGen:CA16041836
single nucleotide variant	NM_004937.3(CTNS):c.682-1G>A	CTNS	Likely pathogenic	17	3561298	3561298	G	A	criteria provided, single submitter	ClinGen:CA16041837