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
Deletion	NM_000071.3(CBS):c.402del (p.Thr135fs)	CBS	Pathogenic/Likely pathogenic	21	44486402	44486402	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042006
Indel	NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)	CBS	Likely pathogenic	21	44486400	44486401	GT	C	criteria provided, multiple submitters, no conflicts	-
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.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.442G>A (p.Gly148Arg)	CBS	Pathogenic/Likely pathogenic	21	44486362	44486362	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042005
single nucleotide variant	NM_000071.3(CBS):c.451+1G>T	CBS	Likely pathogenic	21	44486352	44486352	C	A	criteria provided, multiple submitters, no conflicts	-
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.493T>G (p.Cys165Gly)	CBS	Pathogenic	21	44485764	44485764	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	CBS	Pathogenic	21	44485763	44485763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA410601403
single nucleotide variant	NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	CBS	Pathogenic	21	44485731	44485731	C	T	criteria provided, multiple submitters, no conflicts	-