X染色体連鎖性低リン血症性くる病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.2193del (p.Phe731fs)	PHEX	Pathogenic/Likely pathogenic	X	22266010	22266010	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603580
single nucleotide variant	NM_000444.6(PHEX):c.154G>T (p.Glu52Ter)	PHEX	Pathogenic	X	22056622	22056622	G	T	criteria provided, single submitter	ClinGen:CA10603623
single nucleotide variant	NM_000444.6(PHEX):c.448A>T (p.Lys150Ter)	PHEX	Pathogenic	X	22095605	22095605	A	T	criteria provided, single submitter	ClinGen:CA10603628
single nucleotide variant	NM_000444.6(PHEX):c.617T>A (p.Leu206Ter)	PHEX	Pathogenic	X	22095774	22095774	T	A	criteria provided, single submitter	ClinGen:CA10603631
single nucleotide variant	NM_000444.6(PHEX):c.941G>A (p.Trp314Ter)	PHEX	Pathogenic	X	22117131	22117131	G	A	criteria provided, single submitter	ClinGen:CA10603637
single nucleotide variant	NM_000444.6(PHEX):c.1080-2A>G	PHEX	Pathogenic	X	22129583	22129583	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603642
Deletion	NM_000444.6(PHEX):c.1241del (p.Leu414fs)	PHEX	Pathogenic	X	22132643	22132643	CT	C	criteria provided, single submitter	ClinGen:CA10603644
single nucleotide variant	NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter)	PHEX	Pathogenic	X	22186458	22186458	T	A	criteria provided, single submitter	ClinGen:CA10603645
single nucleotide variant	NM_000444.6(PHEX):c.1587-1G>A	PHEX	Pathogenic	X	22208560	22208560	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603648
single nucleotide variant	NM_000444.6(PHEX):c.1768+1G>C	PHEX	Pathogenic	X	22237221	22237221	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603649