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.325T>C (p.Cys109Arg)	CBS	Pathogenic	21	44486479	44486479	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA324303,UniProtKB:P35520#VAR_021792
single nucleotide variant	NM_000071.3(CBS):c.341C>T (p.Ala114Val)	CBS	Pathogenic/Likely pathogenic	21	44486463	44486463	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA113878,UniProtKB:P35520#VAR_002174,OMIM:613381.0003
single nucleotide variant	NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	CBS	Pathogenic/Likely pathogenic	21	44486458	44486458	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273957,UniProtKB:P35520#VAR_008053
single nucleotide variant	NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	CBS	Pathogenic/Likely pathogenic	21	44486443	44486443	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321269,UniProtKB:P35520#VAR_008054
single nucleotide variant	NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	CBS	Pathogenic/Likely pathogenic	21	44486442	44486442	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275933,UniProtKB:P35520#VAR_008056
single nucleotide variant	NM_000071.3(CBS):c.362G>A (p.Arg121His)	CBS	Pathogenic/Likely pathogenic	21	44486442	44486442	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274172,UniProtKB:P35520#VAR_008055
single nucleotide variant	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS	Pathogenic/Likely pathogenic	21	44486431	44486431	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10644742,UniProtKB:P35520#VAR_008057
single nucleotide variant	NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	CBS	Pathogenic	21	44486430	44486430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275291,UniProtKB:P35520#VAR_002175
Duplication	NM_000071.3(CBS):c.371_374dup (p.Met126fs)	CBS	Likely pathogenic	21	44486429	44486430	C	CCGCA	criteria provided, single submitter	-