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.728-1G>A	PROS1	Likely pathogenic	3	93617414	93617414	C	T	criteria provided, single submitter	ClinGen:CA233399
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.1543C>T (p.Arg515Cys)	PROS1	Likely pathogenic	3	93598108	93598108	G	A	criteria provided, single submitter	-
Deletion	NM_000313.4(PROS1):c.1514del (p.Gly505fs)	PROS1	Likely pathogenic	3	93598137	93598137	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1405G>T (p.Glu469Ter)	PROS1	Likely pathogenic	3	93603659	93603659	C	A	criteria provided, single submitter	-
Deletion	NM_000313.4(PROS1):c.1284del (p.Gly429fs)	PROS1	Likely pathogenic	3	93605219	93605219	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1126G>A (p.Asp376Asn)	PROS1	Likely pathogenic	3	93611806	93611806	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.970T>C (p.Ser324Pro)	PROS1	Likely pathogenic	3	93611962	93611962	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.913C>T (p.Gln305Ter)	PROS1	Likely pathogenic	3	93615472	93615472	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.353C>T (p.Pro118Leu)	PROS1	Likely pathogenic	3	93624981	93624981	G	A	criteria provided, single submitter	-