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
Deletion	NM_000071.3(CBS):c.1087del (p.Glu363fs)	CBS	Likely pathogenic	21	44480609	44480609	TC	T	criteria provided, single submitter	ClinGen:CA16621013
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.1358+2T>C	CBS	Likely pathogenic	21	44478942	44478942	A	G	criteria provided, single submitter	-
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.1009_1012del (p.Arg336_Met337insTer)	CBS	Likely pathogenic	21	44482448	44482451	AGCAT	A	criteria provided, single submitter	-
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.829-1G>C	CBS	Likely pathogenic	21	44483189	44483189	C	G	criteria provided, single submitter	-
Indel	NM_000071.3(CBS):c.403_404delinsG (p.Thr135fs)	CBS	Likely pathogenic	21	44486400	44486401	GT	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000071.3(CBS):c.371_374dup (p.Met126fs)	CBS	Likely pathogenic	21	44486429	44486430	C	CCGCA	criteria provided, single submitter	-
Deletion	NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	CBS	Likely pathogenic	21	44474042	44474043	GGT	G	criteria provided, single submitter	-