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.736+2T>G	CBS	Pathogenic	21	44485311	44485311	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321112
single nucleotide variant	NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	CBS	Pathogenic	21	44485349	44485349	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324489,UniProtKB:P35520#VAR_008071
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.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.253G>A (p.Gly85Arg)	CBS	Pathogenic	21	44488682	44488682	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA319849,UniProtKB:P35520#VAR_008051
single nucleotide variant	NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	CBS	Pathogenic/Likely pathogenic	21	44492158	44492158	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325105,UniProtKB:P35520#VAR_008049
Deletion	NM_000071.3(CBS):c.28del (p.Val10fs)	CBS	Pathogenic/Likely pathogenic	21	44492276	44492276	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603779
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.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