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
Deletion	NM_000444.6(PHEX):c.424del (p.Cys142fs)	PHEX	Pathogenic	X	22094580	22094580	CT	C	criteria provided, single submitter	ClinGen:CA645509371
single nucleotide variant	NM_000444.6(PHEX):c.419C>G (p.Ser140Ter)	PHEX	Pathogenic	X	22094575	22094575	C	G	criteria provided, single submitter	ClinGen:CA16621308
single nucleotide variant	NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)	PHEX	Pathogenic	X	22094571	22094571	T	A	criteria provided, single submitter	ClinGen:CA412571162
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.(22065330_22094505)_(22095821_22108546)del	PHEX	Pathogenic	X	22065330	22108546	na	na	criteria provided, single submitter	-
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
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.312T>G (p.Tyr104Ter)	PHEX	Pathogenic	X	22065292	22065292	T	G	criteria provided, single submitter	ClinGen:CA412567767
single nucleotide variant	NM_000444.6(PHEX):c.263G>A (p.Trp88Ter)	PHEX	Pathogenic	X	22065243	22065243	G	A	criteria provided, multiple submitters, no conflicts	-
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