先天性プロテインS欠乏症

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_000313.4(PROS1):c.586A>G (p.Lys196Glu)	PROS1	Pathogenic	3	93624643	93624643	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123032,UniProtKB:P07225#VAR_005566,OMIM:176880.0003
single nucleotide variant	NM_000313.4(PROS1):c.1063C>T (p.Arg355Cys)	PROS1	Pathogenic/Likely pathogenic	3	93611869	93611869	G	A	criteria provided, multiple submitters, no conflicts	OMIM:176880.0009,ClinGen:CA128688
single nucleotide variant	NM_000313.4(PROS1):c.728-1G>A	PROS1	Likely pathogenic	3	93617414	93617414	C	T	criteria provided, single submitter	ClinGen:CA233399
Indel	NM_000313.4(PROS1):c.967delinsGG (p.Phe323fs)	PROS1	Pathogenic	3	93611965	93611965	A	CC	criteria provided, single submitter	ClinGen:CA337130
single nucleotide variant	NM_000313.4(PROS1):c.1681C>T (p.Arg561Trp)	PROS1	Pathogenic	3	93595999	93595999	G	A	criteria provided, single submitter	ClinGen:CA350250
Deletion	NC_000003.12:g.(?_93879163)_(93879314_?)del	PROS1	Pathogenic	3	93598007	93598158	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1156-1G>A	PROS1	Pathogenic	3	93605348	93605348	C	T	criteria provided, single submitter	ClinGen:CA353670484
Deletion	NC_000003.12:g.(?_93874239)_(94053268_?)del	PROS1	Pathogenic	3	93593083	93772112	na	na	criteria provided, single submitter	-
Duplication	NM_000313.4(PROS1):c.1991dup (p.His664fs)	PROS1	Pathogenic	3	93593128	93593129	G	GT	criteria provided, single submitter	ClinGen:CA658657323
single nucleotide variant	NM_000313.4(PROS1):c.1351C>T (p.Arg451Ter)	PROS1	Pathogenic/Likely pathogenic	3	93603713	93603713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA78477958