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.1006C>T (p.Arg336Cys)	CBS	Pathogenic	21	44482454	44482454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274154,UniProtKB:P35520#VAR_002188
Deletion	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS	Pathogenic/Likely pathogenic	21	44474080	44474080	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273951
single nucleotide variant	NM_000071.3(CBS):c.1358+1G>A	CBS	Pathogenic/Likely pathogenic	21	44478943	44478943	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274355
single nucleotide variant	NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	CBS	Pathogenic/Likely pathogenic	21	44480560	44480560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274005,UniProtKB:P35520#VAR_021801
single nucleotide variant	NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	CBS	Pathogenic/Likely pathogenic	21	44482421	44482421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273978
Deletion	NM_000071.3(CBS):c.689del (p.Leu230fs)	CBS	Pathogenic/Likely pathogenic	21	44485360	44485360	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274011
Deletion	NM_000071.3(CBS):c.667-14_667-7del	CBS	Pathogenic/Likely pathogenic	21	44485389	44485396	TAGAAAGAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274115
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.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.302T>C (p.Leu101Pro)	CBS	Pathogenic/Likely pathogenic	21	44488633	44488633	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274473,UniProtKB:P35520#VAR_021791