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.426C>A (p.Cys142Ter)	PHEX	Pathogenic	X	22094582	22094582	C	A	criteria provided, single submitter	ClinGen:CA16043220
single nucleotide variant	NM_000444.6(PHEX):c.500G>A (p.Trp167Ter)	PHEX	Pathogenic	X	22095657	22095657	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043223
single nucleotide variant	NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter)	PHEX	Pathogenic	X	22132582	22132582	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043225
single nucleotide variant	NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr)	PHEX	Pathogenic/Likely pathogenic	X	22266018	22266018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043226
single nucleotide variant	NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe)	PHEX	Likely pathogenic	X	22266057	22266057	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043228
single nucleotide variant	NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)	PHEX	Likely pathogenic	X	22151650	22151650	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043231
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
single nucleotide variant	NM_000444.6(PHEX):c.663+2T>A	PHEX	Pathogenic	X	22095822	22095822	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043246
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
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