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.1358+1G>A	CBS	Pathogenic/Likely pathogenic	21	44478943	44478943	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274355
single nucleotide variant	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS	Pathogenic/Likely pathogenic	21	44478972	44478972	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P35520#VAR_002192,OMIM:613381.0010,ClinGen:CA113893
single nucleotide variant	NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	CBS	Likely pathogenic	21	44478981	44478981	T	A	criteria provided, single submitter	ClinGen:CA16041996
single nucleotide variant	NM_000071.3(CBS):c.1224-2A>C	CBS	Pathogenic	21	44479080	44479080	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA113897,OMIM:613381.0012
single nucleotide variant	NM_000071.3(CBS):c.1223+1G>T	CBS	Pathogenic	21	44479335	44479335	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1223G>A (p.Trp408Ter)	CBS	Likely pathogenic	21	44479336	44479336	C	T	criteria provided, single submitter	ClinGen:CA320559
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
Deletion	NM_000071.3(CBS):c.1219_1223+8del	CBS	Likely pathogenic	21	44479328	44479340	CGGTCTTACCAGGG	C	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.1218del (p.Lys406fs)	CBS	Pathogenic/Likely pathogenic	21	44479341	44479341	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274981
single nucleotide variant	NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	CBS	Pathogenic/Likely pathogenic	21	44480560	44480560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274005,UniProtKB:P35520#VAR_021801