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
Duplication	NM_000444.6(PHEX):c.1768+2dup	PHEX	Likely pathogenic	X	22237221	22237222	G	GT	criteria provided, single submitter	ClinGen:CA16043312
Duplication	NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)	PHEX	Pathogenic	X	22265985	22265986	G	GTAAC	criteria provided, single submitter	ClinGen:CA16043586
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
single nucleotide variant	NM_000444.6(PHEX):c.617T>G (p.Leu206Trp)	PHEX	Pathogenic	X	22095774	22095774	T	G	criteria provided, single submitter	ClinGen:CA16608395
single nucleotide variant	NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu)	PHEX	Likely pathogenic	X	22237188	22237188	G	A	criteria provided, single submitter	ClinGen:CA16608397
single nucleotide variant	NM_000444.6(PHEX):c.565C>T (p.Gln189Ter)	PHEX	Pathogenic	X	22095722	22095722	C	T	criteria provided, single submitter	ClinGen:CA16608814
single nucleotide variant	NM_000444.6(PHEX):c.849+1G>A	PHEX	Pathogenic	X	22112218	22112218	G	A	criteria provided, single submitter	ClinGen:CA16608815
single nucleotide variant	NM_000444.6(PHEX):c.1739A>G (p.His580Arg)	PHEX	Likely pathogenic	X	22237191	22237191	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608818
single nucleotide variant	NM_000444.6(PHEX):c.1700+1G>T	PHEX	Pathogenic	X	22231076	22231076	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608867
single nucleotide variant	NM_000444.6(PHEX):c.1717G>C (p.Ala573Pro)	PHEX	Pathogenic	X	22237169	22237169	G	C	criteria provided, single submitter	ClinGen:CA16609166