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	NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del	PHEX	Pathogenic	X	22095821	22112100	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del	PHEX	Pathogenic	X	22115157	22129584	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del	PHEX	Pathogenic	X	22117270	22151639	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del	PHEX	Pathogenic	X	22186507	22237152	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22208620_22231047)_(22266070_?)del	PHEX	Pathogenic	X	22208620	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del	PHEX	Pathogenic	X	22237221	22244559	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22237221_22239729)_(22266070_?)del	PHEX	Pathogenic	X	22237221	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22239861_22244559)_(22266070_?)del	PHEX	Pathogenic	X	22239861	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(22245729_22263449)_(22266070_?)del	PHEX	Pathogenic	X	22245729	22266070	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_22051124)_(22051242_22056586)del	PHEX	Pathogenic	X	22051124	22056586	na	na	criteria provided, single submitter	-