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.737-1G>C	CBS	Pathogenic/Likely pathogenic	21	44484102	44484102	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094412
Deletion	NM_000071.2(CBS):c.738delG	CBS	Pathogenic	21	44484100	44484100	TC	T	criteria provided, single submitter	ClinGen:CA16042001
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.785C>T (p.Thr262Met)	CBS	Pathogenic/Likely pathogenic	21	44484053	44484053	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275440,UniProtKB:P35520#VAR_008072
single nucleotide variant	NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	CBS	Pathogenic/Likely pathogenic	21	44484041	44484041	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA113891,UniProtKB:P35520#VAR_008074,OMIM:613381.0009
single nucleotide variant	NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	CBS	Pathogenic/Likely pathogenic	21	44484022	44484022	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321094214
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.829-1G>C	CBS	Likely pathogenic	21	44483189	44483189	C	G	criteria provided, single submitter	-
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
single nucleotide variant	NM_000071.3(CBS):c.903C>G (p.Tyr301Ter)	CBS	Likely pathogenic	21	44483114	44483114	G	C	criteria provided, single submitter	ClinGen:CA16042000