ホモシスチン尿症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	CBS	Likely pathogenic	21	44474042	44474043	GGT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	CBS	Likely pathogenic	21	44474070	44474070	G	A	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS	Pathogenic/Likely pathogenic	21	44474080	44474080	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273951
single nucleotide variant	NM_000071.3(CBS):c.1553-1G>C	CBS	Likely pathogenic	21	44474094	44474094	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.1553-2A>C	CBS	Likely pathogenic	21	44474095	44474095	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000071.3(CBS):c.1552+1G>A	CBS	Likely pathogenic	21	44476912	44476912	C	T	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.1545del (p.Ile516fs)	CBS	Likely pathogenic	21	44476920	44476920	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000071.3(CBS):c.1468-1G>A	CBS	Likely pathogenic	21	44476998	44476998	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041995
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	-
single nucleotide variant	NM_000071.3(CBS):c.1358+2T>C	CBS	Likely pathogenic	21	44478942	44478942	A	G	criteria provided, single submitter	-