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>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
Duplication	NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)	PHEX	Pathogenic	X	22266016	22266017	C	CTGTCCACCCAATTCCACGA	criteria provided, single submitter	ClinGen:CA645509400
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
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
Deletion	NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)	PHEX	Likely pathogenic	X	22265990	22265991	CTT	C	criteria provided, single submitter	-
Duplication	NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)	PHEX	Pathogenic	X	22265985	22265986	G	GTAAC	criteria provided, single submitter	ClinGen:CA16043586
single nucleotide variant	NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu)	PHEX	Likely pathogenic	X	22265979	22265979	C	A	criteria provided, single submitter	ClinGen:CA16043249
single nucleotide variant	NM_000444.6(PHEX):c.2148-2A>G	PHEX	Pathogenic	X	22265966	22265966	A	G	criteria provided, single submitter	ClinGen:CA412575338
Deletion	Single allele	PHEX	Pathogenic	X	22246947	22265379	na	na	criteria provided, single submitter	-