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.1576C>T (p.Gln526Ter)	CBS	Likely pathogenic	21	44474070	44474070	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1553-1G>C	CBS	Likely pathogenic	21	44474094	44474094	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.1552+1G>A	CBS	Likely pathogenic	21	44476912	44476912	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.954+2T>G	CBS	Likely pathogenic	21	44483061	44483061	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.451+1G>T	CBS	Likely pathogenic	21	44486352	44486352	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.1545del (p.Ile516fs)	CBS	Likely pathogenic	21	44476920	44476920	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1359-1G>C	CBS	Likely pathogenic	21	44478364	44478364	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.209+2T>C	CBS	Likely pathogenic	21	44492093	44492093	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	CBS	Pathogenic	21	44483098	44483098	C	T	criteria provided, multiple submitters, no conflicts	OMIM:613381.0001,ClinGen:CA113874,UniProtKB:P35520#VAR_002186
single nucleotide variant	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS	Pathogenic	21	44483184	44483184	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA113880,UniProtKB:P35520#VAR_002184,OMIM:613381.0004