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.253T>C (p.Cys85Arg)	PHEX	Pathogenic	X	22065233	22065233	T	C	criteria provided, single submitter	ClinGen:CA412567630
single nucleotide variant	NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)	PHEX	Pathogenic	X	22065210	22065210	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412567578
single nucleotide variant	NM_000444.6(PHEX):c.187+1G>A	PHEX	Pathogenic	X	22056656	22056656	G	A	criteria provided, single submitter	ClinGen:CA412566068
single nucleotide variant	NM_000444.6(PHEX):c.187+1G>T	PHEX	Pathogenic	X	22056656	22056656	G	T	criteria provided, single submitter	ClinGen:CA412566073
Deletion	NM_000444.6(PHEX):c.187+1del	PHEX	Pathogenic	X	22056654	22056654	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509370
single nucleotide variant	NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)	PHEX	Pathogenic	X	22056649	22056649	G	T	criteria provided, single submitter	ClinGen:CA412566013
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
Deletion	NM_000444.6(PHEX):c.152_162del (p.Gln51fs)	PHEX	Pathogenic	X	22056619	22056629	ACAGGAGTACTG	A	criteria provided, single submitter	ClinGen:CA16621306
single nucleotide variant	NM_000444.6(PHEX):c.151C>T (p.Gln51Ter)	PHEX	Pathogenic	X	22056619	22056619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621305
single nucleotide variant	NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)	PHEX	Pathogenic	X	22056610	22056610	C	T	criteria provided, single submitter	ClinGen:CA412564842