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.611T>A (p.Ile204Asn)	PHEX	Likely pathogenic	X	22095768	22095768	T	A	criteria provided, single submitter	ClinGen:CA412571603
Deletion	NM_000444.6(PHEX):c.2138del (p.Pro713fs)	PHEX	Likely pathogenic	X	22263513	22263513	TC	T	criteria provided, single submitter	ClinGen:CA16621342
single nucleotide variant	NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)	PHEX	Likely pathogenic	X	22263458	22263458	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621340
single nucleotide variant	NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg)	PHEX	Likely pathogenic	X	22263456	22263456	T	C	criteria provided, single submitter	ClinGen:CA16621339
single nucleotide variant	NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg)	PHEX	Likely pathogenic	X	22245719	22245719	T	G	criteria provided, single submitter	ClinGen:CA16621338
single nucleotide variant	NM_000444.6(PHEX):c.1768+5G>T	PHEX	Likely pathogenic	X	22237225	22237225	G	T	criteria provided, single submitter	ClinGen:CA16609167
single nucleotide variant	NM_000444.6(PHEX):c.1739A>G (p.His580Arg)	PHEX	Likely pathogenic	X	22237191	22237191	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608818
single nucleotide variant	NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu)	PHEX	Likely pathogenic	X	22237188	22237188	G	A	criteria provided, single submitter	ClinGen:CA16608397
Duplication	NM_000444.6(PHEX):c.1768+2dup	PHEX	Likely pathogenic	X	22237221	22237222	G	GT	criteria provided, single submitter	ClinGen:CA16043312
single nucleotide variant	NM_000444.6(PHEX):c.436+1G>C	PHEX	Likely pathogenic	X	22094593	22094593	G	C	criteria provided, single submitter	ClinGen:CA16043304