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.1007G>A (p.Arg336His)	CBS	Pathogenic/Likely pathogenic	21	44482453	44482453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041997
single nucleotide variant	NM_000071.3(CBS):c.959T>C (p.Val320Ala)	CBS	Pathogenic/Likely pathogenic	21	44482501	44482501	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041998
single nucleotide variant	NM_000071.3(CBS):c.954+1G>A	CBS	Pathogenic/Likely pathogenic	21	44483062	44483062	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041999
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
Deletion	NM_000071.2(CBS):c.738delG	CBS	Pathogenic	21	44484100	44484100	TC	T	criteria provided, single submitter	ClinGen:CA16042001
Indel	NM_000071.3(CBS):c.707_708delinsGGTG (p.Thr236fs)	CBS	Likely pathogenic	21	44485341	44485342	GG	CACC	criteria provided, single submitter	ClinGen:CA16042002
single nucleotide variant	NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	CBS	Pathogenic/Likely pathogenic	21	44485373	44485373	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042003
Deletion	NM_000071.3(CBS):c.467del (p.Leu156fs)	CBS	Likely pathogenic	21	44485790	44485790	CA	C	criteria provided, single submitter	ClinGen:CA16042004
single nucleotide variant	NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	CBS	Pathogenic/Likely pathogenic	21	44486362	44486362	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042005
Deletion	NM_000071.3(CBS):c.402del (p.Thr135fs)	CBS	Pathogenic/Likely pathogenic	21	44486402	44486402	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042006