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.1033C>T (p.Gln345Ter)	PHEX	Pathogenic	X	22117223	22117223	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000444.6(PHEX):c.263G>A (p.Trp88Ter)	PHEX	Pathogenic	X	22065243	22065243	G	A	criteria provided, multiple submitters, no conflicts	-
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.501G>A (p.Trp167Ter)	PHEX	Pathogenic	X	22095658	22095658	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571357
single nucleotide variant	NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter)	PHEX	Pathogenic	X	22132620	22132620	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573392
single nucleotide variant	NM_000444.6(PHEX):c.663+1G>A	PHEX	Pathogenic	X	22095821	22095821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571717
single nucleotide variant	NM_000444.6(PHEX):c.436+1G>A	PHEX	Pathogenic	X	22094593	22094593	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571214
single nucleotide variant	NM_000444.6(PHEX):c.1899+1G>A	PHEX	Pathogenic	X	22239861	22239861	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573927
single nucleotide variant	NM_000444.6(PHEX):c.187+1G>A	PHEX	Pathogenic	X	22056656	22056656	G	A	criteria provided, single submitter	ClinGen:CA412566068
single nucleotide variant	NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)	PHEX	Pathogenic	X	22266065	22266065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575565