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	NC_000023.10:g.22256748_22370988del114241	PHEX	Pathogenic	X	22256748	22370988	na	na	criteria provided, single submitter	-
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	-
Deletion	NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)	PHEX	Pathogenic	X	22266059	22266072	CCGACTCTGGTAGCT	C	criteria provided, single submitter	ClinGen:CA645509401
Deletion	NC_000023.10:g.(22245729_22263449)_(22266070_?)del	PHEX	Pathogenic	X	22245729	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22239861_22244559)_(22266070_?)del	PHEX	Pathogenic	X	22239861	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22237221_22239729)_(22266070_?)del	PHEX	Pathogenic	X	22237221	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22208620_22231047)_(22266070_?)del	PHEX	Pathogenic	X	22208620	22266070	na	na	criteria provided, single submitter	-
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
single nucleotide variant	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX	Pathogenic/Likely pathogenic	X	22266059	22266059	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603470
single nucleotide variant	NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe)	PHEX	Likely pathogenic	X	22266057	22266057	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043228