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.2140C>T (p.Gln714Ter)	PHEX	Likely pathogenic	X	22263519	22263519	C	T	criteria provided, single submitter	-
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.1805G>A (p.Trp602Ter)	PHEX	Pathogenic	X	22239766	22239766	G	A	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.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	-
Deletion	NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)	PHEX	Likely pathogenic	X	22265990	22265991	CTT	C	criteria provided, single submitter	-
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
copy number loss	GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1	PHEX	Likely pathogenic	X	22108547	22108570	na	na	criteria provided, single submitter	-