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
Deletion	Single allele	PROS1	Likely pathogenic	3	93591831	93692960	na	na	criteria provided, single submitter	-
Deletion	NC_000003.12:g.(?_93874239)_(94053268_?)del	PROS1	Pathogenic	3	93593083	93772112	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)	PROS1	Likely pathogenic	3	93593122	93593122	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg)	PROS1	Pathogenic	3	93593124	93593124	A	G	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.1916G>A (p.Cys639Tyr)	PROS1	Pathogenic	3	93593204	93593204	C	T	criteria provided, single submitter	-
Deletion	NM_000313.4(PROS1):c.1908del (p.Phe635_Tyr636insTer)	PROS1	Pathogenic	3	93593212	93593212	TA	T	criteria provided, single submitter	-
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
single nucleotide variant	NM_000313.4(PROS1):c.1680T>A (p.Tyr560Ter)	PROS1	Pathogenic/Likely pathogenic	3	93596000	93596000	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000003.12:g.(?_93879163)_(93879314_?)del	PROS1	Pathogenic	3	93598007	93598158	na	na	criteria provided, single submitter	-