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.2198G>A (p.Cys733Tyr)	PHEX	Pathogenic/Likely pathogenic	X	22266018	22266018	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043226
single nucleotide variant	NM_000444.6(PHEX):c.664-1G>A	PHEX	Pathogenic/Likely pathogenic	X	22108546	22108546	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603713
Duplication	NM_000444.6(PHEX):c.2138dup (p.Gln714fs)	PHEX	Pathogenic/Likely pathogenic	X	22263512	22263513	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603658
Deletion	NM_000444.6(PHEX):c.2193del (p.Phe731fs)	PHEX	Pathogenic/Likely pathogenic	X	22266010	22266010	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603580
single nucleotide variant	NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	PHEX	Pathogenic/Likely pathogenic	X	22266059	22266059	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603470
single nucleotide variant	NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	PHEX	Pathogenic/Likely pathogenic	X	22237187	22237187	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576256,UniProtKB:P78562#VAR_006745
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.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.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.1805G>A (p.Trp602Ter)	PHEX	Pathogenic	X	22239766	22239766	G	A	criteria provided, multiple submitters, no conflicts	-