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.1204G>T (p.Glu402Ter)	PROS1	Pathogenic	3	93605299	93605299	C	A	criteria provided, single submitter	ClinGen:CA353670171
single nucleotide variant	NM_000313.4(PROS1):c.1998T>A (p.Cys666Ter)	PROS1	Likely pathogenic	3	93593122	93593122	A	T	criteria provided, single submitter	-
Deletion	NM_000313.4(PROS1):c.252del (p.Lys84fs)	PROS1	Pathogenic	3	93643091	93643091	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000313.4(PROS1):c.77-1G>C	PROS1	Pathogenic	3	93646252	93646252	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000313.4(PROS1):c.1996T>C (p.Cys666Arg)	PROS1	Pathogenic	3	93593124	93593124	A	G	criteria provided, single submitter	-
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.1680T>A (p.Tyr560Ter)	PROS1	Pathogenic/Likely pathogenic	3	93596000	93596000	A	T	criteria provided, multiple submitters, no conflicts	-
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	-