ホモシスチン尿症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.954+1G>A	CBS	Pathogenic/Likely pathogenic	21	44483062	44483062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041999
single nucleotide variant	NM_000071.3(CBS):c.959T>C (p.Val320Ala)	CBS	Pathogenic/Likely pathogenic	21	44482501	44482501	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041998
single nucleotide variant	NM_000071.3(CBS):c.1007G>A (p.Arg336His)	CBS	Pathogenic/Likely pathogenic	21	44482453	44482453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041997
single nucleotide variant	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS	Pathogenic/Likely pathogenic	21	44486431	44486431	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10644742,UniProtKB:P35520#VAR_008057
Deletion	NM_000071.3(CBS):c.28del (p.Val10fs)	CBS	Pathogenic/Likely pathogenic	21	44492276	44492276	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603779
single nucleotide variant	NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	CBS	Pathogenic/Likely pathogenic	21	44492158	44492158	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325105,UniProtKB:P35520#VAR_008049
single nucleotide variant	NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	CBS	Pathogenic/Likely pathogenic	21	44486443	44486443	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321269,UniProtKB:P35520#VAR_008054
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.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.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