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.2118_2119del (p.Gln706fs)	PHEX	Pathogenic/Likely pathogenic	X	22263496	22263497	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621341
single nucleotide variant	NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)	PHEX	Pathogenic	X	22263483	22263483	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603719
Deletion	NM_000444.6(PHEX):c.2093del (p.Pro698fs)	PHEX	Pathogenic	X	22263471	22263471	AC	A	criteria provided, single submitter	ClinGen:CA645509398
single nucleotide variant	NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)	PHEX	Likely pathogenic	X	22263458	22263458	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621340
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
Deletion	NC_000023.10:g.22256748_22370988del114241	PHEX	Pathogenic	X	22256748	22370988	na	na	criteria provided, single submitter	-
Deletion	Single allele	PHEX	Pathogenic	X	22246947	22265379	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22245729_22263449)_(22266070_?)del	PHEX	Pathogenic	X	22245729	22266070	na	na	criteria provided, single submitter	-