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.316+1G>A	CBS	Likely pathogenic	21	44488618	44488618	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042007
single nucleotide variant	NM_000071.3(CBS):c.209+1G>C	CBS	Pathogenic/Likely pathogenic	21	44492094	44492094	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042008
Deletion	NM_000071.3(CBS):c.18_36del (p.Glu9fs)	CBS	Likely pathogenic	21	44492268	44492286	TGGGCCCCACTTCTGCCTGG	T	criteria provided, single submitter	ClinGen:CA16042009
Duplication	NM_000071.3(CBS):c.19dup (p.Gln7fs)	CBS	Pathogenic	21	44492284	44492285	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042010
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
Deletion	NM_000071.3(CBS):c.1087del (p.Glu363fs)	CBS	Likely pathogenic	21	44480609	44480609	TC	T	criteria provided, single submitter	ClinGen:CA16621013
Indel	NM_000071.3(CBS):c.1005_1006delinsTT (p.Arg336Cys)	CBS	Pathogenic	21	44482454	44482455	GG	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621014
single nucleotide variant	NM_000071.3(CBS):c.572C>A (p.Thr191Lys)	CBS	Likely pathogenic	21	44485591	44485591	G	T	criteria provided, single submitter	ClinGen:CA410601079
single nucleotide variant	NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	CBS	Pathogenic/Likely pathogenic	21	44484022	44484022	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094214
Deletion	NC_000021.9:g.(?_43058125)_(43065715_?)del	CBS	Pathogenic	21	44478235	44485825	na	na	criteria provided, single submitter	-