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
Duplication	NM_000071.3(CBS):c.371_374dup (p.Met126fs)	CBS	Likely pathogenic	21	44486429	44486430	C	CCGCA	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.153_165del (p.Arg51fs)	CBS	Pathogenic/Likely pathogenic	21	44492139	44492151	GCTGCCAGGTGCAC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	CBS	Likely pathogenic	21	44474042	44474043	GGT	G	criteria provided, single submitter	-
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.828+1G>A	CBS	Pathogenic/Likely pathogenic	21	44484009	44484009	C	T	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	-