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.919G>A (p.Gly307Ser)	CBS	Pathogenic	21	44483098	44483098	C	T	criteria provided, multiple submitters, no conflicts	OMIM:613381.0001,ClinGen:CA113874,UniProtKB:P35520#VAR_002186
single nucleotide variant	NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	CBS	Pathogenic/Likely pathogenic	21	44486370	44486370	G	A	criteria provided, multiple submitters, no conflicts	OMIM:613381.0002,ClinGen:CA113876,UniProtKB:P35520#VAR_002178
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.833T>C (p.Ile278Thr)	CBS	Pathogenic	21	44483184	44483184	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA113880,UniProtKB:P35520#VAR_002184,OMIM:613381.0004
single nucleotide variant	NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	CBS	Pathogenic/Likely pathogenic	21	44486374	44486374	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA113885,UniProtKB:P35520#VAR_002177,OMIM:613381.0006
single nucleotide variant	NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	CBS	Pathogenic/Likely pathogenic	21	44484041	44484041	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA113891,UniProtKB:P35520#VAR_008074,OMIM:613381.0009
single nucleotide variant	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS	Pathogenic/Likely pathogenic	21	44478972	44478972	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P35520#VAR_002192,OMIM:613381.0010,ClinGen:CA113893
single nucleotide variant	NM_000071.3(CBS):c.1224-2A>C	CBS	Pathogenic	21	44479080	44479080	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA113897,OMIM:613381.0012
single nucleotide variant	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS	Pathogenic/Likely pathogenic	21	44480638	44480638	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA113902,UniProtKB:P35520#VAR_008082,OMIM:613381.0015
single nucleotide variant	NM_000071.3(CBS):c.572C>T (p.Thr191Met)	CBS	Pathogenic/Likely pathogenic	21	44485591	44485591	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P35520#VAR_008068,OMIM:613381.0016,ClinGen:CA113904