先天性第V因子欠乏症

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_000130.5(F5):c.1297-2A>G	F5	Likely pathogenic	1	169519979	169519979	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000130.5(F5):c.1498T>G (p.Cys500Gly)	F5	Likely pathogenic	1	169519152	169519152	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000130.5(F5):c.1671G>C (p.Trp557Cys)	F5	Likely pathogenic	1	169515771	169515771	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)	F5	Likely pathogenic	1	169515768	169515768	G	T	criteria provided, single submitter	-
Duplication	NM_000130.5(F5):c.1830_1831dup (p.His611fs)	F5	Pathogenic/Likely pathogenic	1	169513677	169513678	T	TGC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000130.5(F5):c.2218C>T (p.Arg740Ter)	F5	Likely pathogenic	1	169512110	169512110	G	A	criteria provided, single submitter	ClinGen:CA10608192
single nucleotide variant	NM_000130.5(F5):c.2401C>T (p.Gln801Ter)	F5	Pathogenic	1	169511927	169511927	G	A	criteria provided, single submitter	ClinGen:CA251553,OMIM:612309.0008
Deletion	NM_000130.5(F5):c.2539del (p.Ile847fs)	F5	Likely pathogenic	1	169511789	169511789	AT	A	criteria provided, single submitter	-
Deletion	NM_000130.5(F5):c.2862del (p.Ser955fs)	F5	Likely pathogenic	1	169511466	169511466	TA	T	criteria provided, single submitter	OMIM:612309.0010
Deletion	NM_000130.5(F5):c.3170_3174del (p.Asn1057fs)	F5	Likely pathogenic	1	169511154	169511158	ATGTGT	A	criteria provided, single submitter	-