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.1645C>T (p.Arg549Ter)	PHEX	Pathogenic	X	22208619	22208619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603715
single nucleotide variant	NM_000444.6(PHEX):c.1806G>A (p.Trp602Ter)	PHEX	Pathogenic	X	22239767	22239767	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603716
Duplication	NM_000444.6(PHEX):c.1828_1829dup (p.Phe611fs)	PHEX	Pathogenic	X	22239786	22239787	G	GAA	criteria provided, single submitter	ClinGen:CA10603717
single nucleotide variant	NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)	PHEX	Pathogenic	X	22245637	22245637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603718
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.67del (p.Leu23fs)	PHEX	Pathogenic	X	22051188	22051188	GC	G	criteria provided, single submitter	ClinGen:CA10605687
single nucleotide variant	NM_000444.6(PHEX):c.1483-1G>A	PHEX	Pathogenic	X	22196389	22196389	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043203
single nucleotide variant	NM_000444.6(PHEX):c.1586+2T>A	PHEX	Pathogenic	X	22196495	22196495	T	A	criteria provided, single submitter	ClinGen:CA16043212
single nucleotide variant	NM_000444.6(PHEX):c.1736G>T (p.Gly579Val)	PHEX	Likely pathogenic	X	22237188	22237188	G	T	criteria provided, single submitter	ClinGen:CA16043217
Duplication	NM_000444.6(PHEX):c.2028_2032dup (p.Phe678fs)	PHEX	Pathogenic	X	22245682	22245683	G	GCATCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043219