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.*231A>G	PHEX	Pathogenic/Likely pathogenic	X	22266301	22266301	A	G	criteria provided, multiple submitters, no conflicts	-
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
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.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.2237G>T (p.Cys746Phe)	PHEX	Likely pathogenic	X	22266057	22266057	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043228
single nucleotide variant	NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)	PHEX	Pathogenic	X	22266018	22266018	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575461
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.2197T>C (p.Cys733Arg)	PHEX	Pathogenic	X	22266017	22266017	T	C	criteria provided, single submitter	ClinGen:CA16621344
Duplication	NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)	PHEX	Pathogenic	X	22266016	22266017	C	CTGTCCACCCAATTCCACGA	criteria provided, single submitter	ClinGen:CA645509400
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