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.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.1126G>A (p.Asp376Asn)	CBS	Pathogenic	21	44480570	44480570	C	T	criteria provided, multiple submitters, no conflicts	-
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.1109G>A (p.Cys370Tyr)	CBS	Likely pathogenic	21	44480587	44480587	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621012
Deletion	NM_000071.3(CBS):c.1087del (p.Glu363fs)	CBS	Likely pathogenic	21	44480609	44480609	TC	T	criteria provided, single submitter	ClinGen:CA16621013
single nucleotide variant	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS	Pathogenic/Likely pathogenic	21	44480638	44480638	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA113902,UniProtKB:P35520#VAR_008082,OMIM:613381.0015
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.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.1009_1012del (p.Arg336_Met337insTer)	CBS	Likely pathogenic	21	44482448	44482451	AGCAT	A	criteria provided, single submitter	-
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