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.254G>A (p.Cys85Tyr)	PHEX	Pathogenic	X	22065234	22065234	G	A	criteria provided, single submitter	UniProtKB:P78562#VAR_006739,OMIM:300550.0005,ClinGen:CA255559
single nucleotide variant	NM_000444.6(PHEX):c.755T>C (p.Phe252Ser)	PHEX	Pathogenic	X	22112123	22112123	T	C	criteria provided, single submitter	ClinVar:10818,UniProtKB:P78562#VAR_006742,OMIM:300550.0006
single nucleotide variant	NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro)	PHEX	Pathogenic	X	22231039	22231039	T	C	criteria provided, single submitter	OMIM:300550.0007,ClinGen:CA255560,UniProtKB:P78562#VAR_010627
single nucleotide variant	NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)	PHEX	Pathogenic	X	22231074	22231074	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255561,OMIM:300550.0010
single nucleotide variant	NM_000444.6(PHEX):c.759G>A (p.Met253Ile)	PHEX	Likely pathogenic	X	22112127	22112127	G	A	criteria provided, single submitter	ClinVar:10818,UniProtKB:P78562#VAR_006743,OMIM:300550.0006
single nucleotide variant	NM_000444.6(PHEX):c.1404+2T>G	PHEX	Likely pathogenic	X	22151743	22151743	T	G	criteria provided, single submitter	ClinGen:CA260501
single nucleotide variant	NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)	PHEX	Pathogenic/Likely pathogenic	X	22208563	22208563	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260502
single nucleotide variant	NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)	PHEX	Pathogenic/Likely pathogenic	X	22245657	22245657	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260506
single nucleotide variant	NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)	PHEX	Pathogenic/Likely pathogenic	X	22065298	22065298	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA260508
single nucleotide variant	NM_000444.6(PHEX):c.349+1G>C	PHEX	Likely pathogenic	X	22065330	22065330	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA260510