ホモシスチン尿症

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_000071.3(CBS):c.1223G>A (p.Trp408Ter)	CBS	Likely pathogenic	21	44479336	44479336	C	T	criteria provided, single submitter	ClinGen:CA320559
single nucleotide variant	NM_000071.3(CBS):c.1051G>C (p.Gly351Arg)	CBS	Likely pathogenic	21	44480645	44480645	C	G	criteria provided, single submitter	ClinGen:CA320282
single nucleotide variant	NM_000071.3(CBS):c.1468-1G>A	CBS	Likely pathogenic	21	44476998	44476998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041995
single nucleotide variant	NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	CBS	Likely pathogenic	21	44478981	44478981	T	A	criteria provided, single submitter	ClinGen:CA16041996
single nucleotide variant	NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	CBS	Likely pathogenic	21	44483114	44483114	G	C	criteria provided, single submitter	ClinGen:CA16042000
Indel	NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)	CBS	Likely pathogenic	21	44485341	44485342	GG	CACC	criteria provided, single submitter	ClinGen:CA16042002
Deletion	NM_000071.3(CBS):c.467del (p.Leu156fs)	CBS	Likely pathogenic	21	44485790	44485790	CA	C	criteria provided, single submitter	ClinGen:CA16042004
single nucleotide variant	NM_000071.3(CBS):c.316+1G>A	CBS	Likely pathogenic	21	44488618	44488618	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042007
Deletion	NM_000071.3(CBS):c.18_36del (p.Glu9fs)	CBS	Likely pathogenic	21	44492268	44492286	TGGGCCCCACTTCTGCCTGG	T	criteria provided, single submitter	ClinGen:CA16042009
single nucleotide variant	NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	CBS	Likely pathogenic	21	44480587	44480587	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621012