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.2171_2172del (p.Asn723_Phe724insTer)	PHEX	Likely pathogenic	X	22265990	22265991	CTT	C	criteria provided, single submitter	-
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.2159C>A (p.Ala720Glu)	PHEX	Likely pathogenic	X	22265979	22265979	C	A	criteria provided, single submitter	ClinGen:CA16043249
single nucleotide variant	NM_000444.6(PHEX):c.2148-2A>G	PHEX	Pathogenic	X	22265966	22265966	A	G	criteria provided, single submitter	ClinGen:CA412575338
single nucleotide variant	NM_000444.6(PHEX):c.2147+3A>T	PHEX	Pathogenic	X	22263529	22263529	A	T	criteria provided, single submitter	ClinGen:CA645509399
single nucleotide variant	NM_000444.6(PHEX):c.2147+1G>A	PHEX	Pathogenic	X	22263527	22263527	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603578
Deletion	NM_000444.6(PHEX):c.2147+2_2147+9del	PHEX	Pathogenic	X	22263526	22263533	AGGTAAATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621343
single nucleotide variant	NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)	PHEX	Likely pathogenic	X	22263519	22263519	C	T	criteria provided, single submitter	-
Deletion	NM_000444.6(PHEX):c.2138del (p.Pro713fs)	PHEX	Likely pathogenic	X	22263513	22263513	TC	T	criteria provided, single submitter	ClinGen:CA16621342
Duplication	NM_000444.6(PHEX):c.2138dup (p.Gln714fs)	PHEX	Pathogenic/Likely pathogenic	X	22263512	22263513	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603658