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.5037dup (p.Ser1680fs)	F5	Pathogenic	1	169500194	169500195	A	AT	criteria provided, single submitter	ClinGen:CA1233584
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.6304C>T (p.Arg2102Cys)	F5	Likely pathogenic	1	169487691	169487691	G	A	criteria provided, single submitter	ClinGen:CA251559,UniProtKB:P12259#VAR_032701,OMIM:612309.0012
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