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
single nucleotide variant	NM_000444.6(PHEX):c.1966-1G>C	PHEX	Pathogenic/Likely pathogenic	X	22245623	22245623	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621336
single nucleotide variant	NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser)	PHEX	Pathogenic/Likely pathogenic	X	22237166	22237166	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621331
single nucleotide variant	NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)	PHEX	Pathogenic/Likely pathogenic	X	22231033	22231033	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621328
single nucleotide variant	NM_000444.6(PHEX):c.1482+1G>A	PHEX	Pathogenic/Likely pathogenic	X	22186507	22186507	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621324
single nucleotide variant	NM_000444.6(PHEX):c.1900-1G>A	PHEX	Pathogenic/Likely pathogenic	X	22244559	22244559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609168
single nucleotide variant	NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp)	PHEX	Pathogenic/Likely pathogenic	X	22237167	22237167	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043311
single nucleotide variant	NM_000444.6(PHEX):c.1715G>T (p.Gly572Val)	PHEX	Pathogenic/Likely pathogenic	X	22237167	22237167	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043263
single nucleotide variant	NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro)	PHEX	Pathogenic/Likely pathogenic	X	22231075	22231075	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043260
single nucleotide variant	NM_000444.6(PHEX):c.2070+1G>A	PHEX	Pathogenic/Likely pathogenic	X	22245729	22245729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043248
Deletion	NM_000444.6(PHEX):c.1727_1738del (p.Val576_His580delinsAsp)	PHEX	Pathogenic/Likely pathogenic	X	22237179	22237190	GTAATTGTCGGAC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043234