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.1875T>G (p.Tyr625Ter)	PHEX	Pathogenic/Likely pathogenic	X	22239836	22239836	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000444.6(PHEX):c.*231A>G	PHEX	Pathogenic/Likely pathogenic	X	22266301	22266301	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	PHEX	Pathogenic/Likely pathogenic	X	22117227	22117227	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412572957
single nucleotide variant	NM_000444.6(PHEX):c.1936G>C (p.Asp646His)	PHEX	Pathogenic/Likely pathogenic	X	22244596	22244596	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574202
single nucleotide variant	NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)	PHEX	Pathogenic/Likely pathogenic	X	22237205	22237205	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575822
single nucleotide variant	NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)	PHEX	Pathogenic/Likely pathogenic	X	22237170	22237170	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575749
single nucleotide variant	NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	PHEX	Pathogenic/Likely pathogenic	X	22186430	22186430	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573942
single nucleotide variant	NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)	PHEX	Pathogenic/Likely pathogenic	X	22151741	22151741	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10368231
single nucleotide variant	NM_000444.6(PHEX):c.591A>G (p.Gln197=)	PHEX	Pathogenic/Likely pathogenic	X	22095748	22095748	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA515429669
Deletion	NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs)	PHEX	Pathogenic/Likely pathogenic	X	22263496	22263497	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621341