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.532-2A>G	CBS	Pathogenic	21	44485633	44485633	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.572C>A (p.Thr191Lys)	CBS	Likely pathogenic	21	44485591	44485591	G	T	criteria provided, single submitter	ClinGen:CA410601079
single nucleotide variant	NM_000071.3(CBS):c.572C>T (p.Thr191Met)	CBS	Pathogenic/Likely pathogenic	21	44485591	44485591	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P35520#VAR_008068,OMIM:613381.0016,ClinGen:CA113904
Duplication	NM_000071.3(CBS):c.452-153_624dup	CBS	Pathogenic	21	44485538	44485539	G	GCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTT	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.667-14_667-7del	CBS	Pathogenic/Likely pathogenic	21	44485389	44485396	TAGAAAGAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274115
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.689del (p.Leu230fs)	CBS	Pathogenic/Likely pathogenic	21	44485360	44485360	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274011
single nucleotide variant	NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	CBS	Pathogenic	21	44485349	44485349	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324489,UniProtKB:P35520#VAR_008071
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.736+2T>G	CBS	Pathogenic	21	44485311	44485311	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321112