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.1218del (p.Lys406fs)	CBS	Pathogenic/Likely pathogenic	21	44479341	44479341	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274981
single nucleotide variant	NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	CBS	Pathogenic	21	44486430	44486430	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275291,UniProtKB:P35520#VAR_002175
single nucleotide variant	NM_000071.3(CBS):c.785C>T (p.Thr262Met)	CBS	Pathogenic/Likely pathogenic	21	44484053	44484053	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275440,UniProtKB:P35520#VAR_008072
single nucleotide variant	NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	CBS	Pathogenic/Likely pathogenic	21	44486442	44486442	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275933,UniProtKB:P35520#VAR_008056
single nucleotide variant	NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	CBS	Likely pathogenic	21	44479336	44479336	C	T	criteria provided, single submitter	ClinGen:CA320559
single nucleotide variant	NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	CBS	Pathogenic/Likely pathogenic	21	44480561	44480561	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320740,UniProtKB:P35520#VAR_046936
single nucleotide variant	NM_000071.3(CBS):c.1111G>A (p.Val371Met)	CBS	Pathogenic/Likely pathogenic	21	44480585	44480585	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA320805,UniProtKB:P35520#VAR_002190
single nucleotide variant	NM_000071.3(CBS):c.1051G>C (p.Gly351Arg)	CBS	Likely pathogenic	21	44480645	44480645	C	G	criteria provided, single submitter	ClinGen:CA320282
single nucleotide variant	NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	CBS	Pathogenic/Likely pathogenic	21	44482468	44482468	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323703,UniProtKB:P35520#VAR_008079
single nucleotide variant	NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	CBS	Pathogenic	21	44482491	44482491	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321445