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.829-1G>C	CBS	Likely pathogenic	21	44483189	44483189	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1553-2A>C	CBS	Likely pathogenic	21	44474095	44474095	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.1009_1012del (p.Arg336_Met337insTer)	CBS	Likely pathogenic	21	44482448	44482451	AGCAT	A	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.1219_1223+8del	CBS	Likely pathogenic	21	44479328	44479340	CGGTCTTACCAGGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1358+2T>C	CBS	Likely pathogenic	21	44478942	44478942	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	CBS	Pathogenic	21	44484063	44484063	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094274
single nucleotide variant	NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	CBS	Pathogenic	21	44485763	44485763	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA410601403
Deletion	NM_000071.3(CBS):c.1221del (p.Trp408fs)	CBS	Pathogenic/Likely pathogenic	21	44479338	44479338	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684242
single nucleotide variant	NM_000071.3(CBS):c.737-1G>C	CBS	Pathogenic/Likely pathogenic	21	44484102	44484102	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094412
Deletion	NC_000021.9:g.(?_43058125)_(43065715_?)del	CBS	Pathogenic	21	44478235	44485825	na	na	criteria provided, single submitter	-