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.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	-
Deletion	NM_000313.4(PROS1):c.785del (p.Gly262fs)	PROS1	Pathogenic	3	93617356	93617356	AC	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	-
Duplication	NM_000313.4(PROS1):c.49dup (p.Leu17fs)	PROS1	Likely pathogenic	3	93692544	93692545	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000313.3(PROS1):c.-168C>T	PROS1	Likely pathogenic	3	93692761	93692761	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000313.4(PROS1):c.1155+5G>A	PROS1	Pathogenic/Likely pathogenic	3	93611772	93611772	C	T	criteria provided, multiple submitters, no conflicts	-