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.970T>C (p.Ser324Pro)	PROS1	Likely pathogenic	3	93611962	93611962	A	G	criteria provided, single submitter	-
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.1126G>A (p.Asp376Asn)	PROS1	Likely pathogenic	3	93611806	93611806	C	T	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	-
single nucleotide variant	NM_000313.4(PROS1):c.1156-1G>A	PROS1	Pathogenic	3	93605348	93605348	C	T	criteria provided, single submitter	ClinGen:CA353670484
single nucleotide variant	NM_000313.4(PROS1):c.1204G>T (p.Glu402Ter)	PROS1	Pathogenic	3	93605299	93605299	C	A	criteria provided, single submitter	ClinGen:CA353670171
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.1351C>T (p.Arg451Ter)	PROS1	Pathogenic/Likely pathogenic	3	93603713	93603713	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA78477958
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.1514del (p.Gly505fs)	PROS1	Likely pathogenic	3	93598137	93598137	AC	A	criteria provided, single submitter	-