X染色体連鎖性低リン血症性くる病

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_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)	PHEX	Pathogenic	X	22263457	22263457	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575179
single nucleotide variant	NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg)	PHEX	Likely pathogenic	X	22263456	22263456	T	C	criteria provided, single submitter	ClinGen:CA16621339
single nucleotide variant	NM_000444.6(PHEX):c.2071-1G>A	PHEX	Pathogenic	X	22263449	22263449	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603657
Duplication	NC_000023.11:g.22130083_22232038dup	PHEX	Pathogenic	X	22148200	22250155	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000444.6(PHEX):c.2070+1G>A	PHEX	Pathogenic/Likely pathogenic	X	22245729	22245729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043248
single nucleotide variant	NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter)	PHEX	Pathogenic	X	22245722	22245722	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603655
single nucleotide variant	NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg)	PHEX	Likely pathogenic	X	22245719	22245719	T	G	criteria provided, single submitter	ClinGen:CA16621338
Duplication	NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)	PHEX	Pathogenic	X	22245716	22245717	G	GAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603468
Duplication	NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs)	PHEX	Pathogenic	X	22245705	22245706	C	CTCTT	criteria provided, single submitter	ClinGen:CA10603654
single nucleotide variant	NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)	PHEX	Pathogenic	X	22245702	22245702	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574455