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
Duplication	NM_000444.6(PHEX):c.682dup (p.Ser228fs)	PHEX	Pathogenic	X	22108564	22108565	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369750
single nucleotide variant	NM_000444.6(PHEX):c.1302+1G>T	PHEX	Likely pathogenic	X	22132705	22132705	G	T	criteria provided, single submitter	ClinGen:CA412573820
single nucleotide variant	NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg)	PHEX	Likely pathogenic	X	22237175	22237175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575758
Duplication	NM_000444.6(PHEX):c.1828_1832dup (p.Phe611fs)	PHEX	Pathogenic	X	22239788	22239789	A	AAAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369751
single nucleotide variant	NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)	PHEX	Pathogenic	X	22094553	22094553	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571122
Deletion	NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del	PHEX	Pathogenic	X	22132705	22186428	na	na	criteria provided, single submitter	-
Deletion	Single allele	PHEX	Pathogenic	X	22114640	22150788	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del	PHEX	Pathogenic	X	22051242	22065167	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del	PHEX	Pathogenic	X	22065330	22108546	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del	PHEX	Pathogenic	X	22094593	22108546	na	na	criteria provided, single submitter	-