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.209+1G>A	CBS	Pathogenic/Likely pathogenic	21	44492094	44492094	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.828+1G>A	CBS	Pathogenic/Likely pathogenic	21	44484009	44484009	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.153_165del (p.Arg51fs)	CBS	Pathogenic/Likely pathogenic	21	44492139	44492151	GCTGCCAGGTGCAC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.1221del (p.Trp408fs)	CBS	Pathogenic/Likely pathogenic	21	44479338	44479338	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684242
single nucleotide variant	NM_000071.3(CBS):c.737-1G>C	CBS	Pathogenic/Likely pathogenic	21	44484102	44484102	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094412
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
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.402del (p.Thr135fs)	CBS	Pathogenic/Likely pathogenic	21	44486402	44486402	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042006
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.676G>A (p.Ala226Thr)	CBS	Pathogenic/Likely pathogenic	21	44485373	44485373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042003