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
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.5365C>T (p.Arg1789Ter)	F5	Pathogenic	1	169498900	169498900	G	A	criteria provided, single submitter	-
Duplication	NM_000130.5(F5):c.5037dup (p.Ser1680fs)	F5	Pathogenic	1	169500194	169500195	A	AT	criteria provided, single submitter	ClinGen:CA1233584
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
single nucleotide variant	NM_000130.5(F5):c.5189A>G (p.Tyr1730Cys)	F5	Pathogenic	1	169500043	169500043	T	C	criteria provided, single submitter	ClinGen:CA251551,UniProtKB:P12259#VAR_032700,OMIM:612309.0007
single nucleotide variant	NM_000130.5(F5):c.1674C>A (p.Tyr558Ter)	F5	Likely pathogenic	1	169515768	169515768	G	T	criteria provided, single submitter	-
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	-
Deletion	NM_000130.5(F5):c.2539del (p.Ile847fs)	F5	Likely pathogenic	1	169511789	169511789	AT	A	criteria provided, single submitter	-