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
Duplication	NM_000444.6(PHEX):c.779dup (p.Leu260fs)	PHEX	Pathogenic	X	22112143	22112144	C	CT	criteria provided, single submitter	ClinGen:CA10603435
Duplication	NM_000444.6(PHEX):c.1309dup (p.Glu437fs)	PHEX	Pathogenic	X	22151644	22151645	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603441
single nucleotide variant	NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)	PHEX	Pathogenic	X	22196450	22196450	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603445
Duplication	NM_000444.6(PHEX):c.1685dup (p.Thr563fs)	PHEX	Pathogenic	X	22231056	22231057	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603447
single nucleotide variant	NM_000444.6(PHEX):c.1701-2A>G	PHEX	Pathogenic	X	22237151	22237151	A	G	criteria provided, single submitter	ClinGen:CA10603452
single nucleotide variant	NM_000444.6(PHEX):c.1713T>G (p.Tyr571Ter)	PHEX	Pathogenic	X	22237165	22237165	T	G	criteria provided, single submitter	ClinGen:CA10603457
Duplication	NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)	PHEX	Pathogenic	X	22239740	22239743	A	ATGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603458
Duplication	NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer)	PHEX	Pathogenic	X	22244595	22244596	T	TGATA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603461
Duplication	NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)	PHEX	Pathogenic	X	22245716	22245717	G	GAGTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603468
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