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.2239_*2del (p.Arg747fs)	PHEX	Pathogenic	X	22266059	22266072	CCGACTCTGGTAGCT	C	criteria provided, single submitter	ClinGen:CA645509401
single nucleotide variant	NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)	PHEX	Pathogenic	X	22266065	22266065	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575565
copy number loss	GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0	PHEX	Likely pathogenic	X	22108547	22108615	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000444.6(PHEX):c.187+1G>A	PHEX	Pathogenic	X	22056656	22056656	G	A	criteria provided, single submitter	ClinGen:CA412566068
single nucleotide variant	NM_000444.6(PHEX):c.1899+1G>A	PHEX	Pathogenic	X	22239861	22239861	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573927
single nucleotide variant	NM_000444.6(PHEX):c.436+1G>A	PHEX	Pathogenic	X	22094593	22094593	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571214
single nucleotide variant	NM_000444.6(PHEX):c.663+1G>A	PHEX	Pathogenic	X	22095821	22095821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412571717
single nucleotide variant	NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)	PHEX	Pathogenic/Likely pathogenic	X	22117227	22117227	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412572957
single nucleotide variant	NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter)	PHEX	Pathogenic	X	22132620	22132620	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573392
copy number loss	GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1	PHEX	Likely pathogenic	X	22108547	22108570	na	na	criteria provided, single submitter	-