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
Deletion	NM_000444.6(PHEX):c.15_16del (p.Gly6fs)	PHEX	Pathogenic	X	22051138	22051139	CAG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)	PHEX	Pathogenic	X	22051181	22051181	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608388
Deletion	NM_000444.6(PHEX):c.67del (p.Leu23fs)	PHEX	Pathogenic	X	22051188	22051188	GC	G	criteria provided, single submitter	ClinGen:CA10605687
Duplication	NM_000444.6(PHEX):c.78dup (p.Val27fs)	PHEX	Pathogenic	X	22051198	22051199	G	GT	criteria provided, single submitter	ClinGen:CA645509368
single nucleotide variant	NM_000444.6(PHEX):c.118+1G>T	PHEX	Pathogenic	X	22051242	22051242	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412564385
single nucleotide variant	NM_000444.6(PHEX):c.119-3C>G	PHEX	Pathogenic	X	22056584	22056584	C	G	criteria provided, single submitter	ClinGen:CA645509369
Deletion	NC_000023.10:g.(?_22051124)_(22051242_22056586)del	PHEX	Pathogenic	X	22051124	22056586	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000444.6(PHEX):c.134T>A (p.Leu45Ter)	PHEX	Pathogenic	X	22056602	22056602	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588755
single nucleotide variant	NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)	PHEX	Pathogenic	X	22056610	22056610	C	T	criteria provided, single submitter	ClinGen:CA412564842
single nucleotide variant	NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)	PHEX	Pathogenic	X	22056619	22056619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621305