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.1223+1G>T	CBS	Pathogenic	21	44479335	44479335	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	CBS	Pathogenic	21	44480570	44480570	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.209+1G>A	CBS	Pathogenic/Likely pathogenic	21	44492094	44492094	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	CBS	Pathogenic	21	44485731	44485731	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	CBS	Pathogenic	21	44485764	44485764	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.532-2A>G	CBS	Pathogenic	21	44485633	44485633	T	C	criteria provided, single submitter	-
Duplication	NM_000071.3(CBS):c.452-153_624dup	CBS	Pathogenic	21	44485538	44485539	G	GCCAGGCCACCCCCACGTGTGACTCCGGGGAGTCGAACCTGGCATTGGTGGGCGTCCTCACAATCTCAGCCCCCAGTGCCCGCAGCACGTCCACCTGCAGGAGGGAAAGCGGTGGCCTGCACCTTCCGCCTGGCCCAGGCACCCTCATCCCCTGCCCTATGACCCCGCCCCTGGCCACGCCCACCCACCTTCTCGGAGCTCATCTTCTCTGGCATCACGATGATGCAGCGATAGCCCCTCACTGCCGCAGCCAGGGCCAGCCCGATCCCTGAGGGCACACAGAGGGTGAGAGGGGCCCAGTGACCCCCCAAGCCCTGCCCCGCCCCTGCCTGGGACACAGGGGCACACCCCGATGCCGGTTCCCTTAGGGCCCAGGGAAGAGGGTTCTGTGGGATTCCAAAATTGCCCAACATGGCTGCTT	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.209+2T>C	CBS	Likely pathogenic	21	44492093	44492093	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1359-1G>C	CBS	Likely pathogenic	21	44478364	44478364	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000071.3(CBS):c.1545del (p.Ile516fs)	CBS	Likely pathogenic	21	44476920	44476920	TC	T	criteria provided, single submitter	-