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.2070+1G>A	PHEX	Pathogenic/Likely pathogenic	X	22245729	22245729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043248
single nucleotide variant	NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter)	PHEX	Pathogenic	X	22245722	22245722	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603655
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
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
Duplication	NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs)	PHEX	Pathogenic	X	22245705	22245706	C	CTCTT	criteria provided, single submitter	ClinGen:CA10603654
single nucleotide variant	NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)	PHEX	Pathogenic	X	22245702	22245702	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574455
Duplication	NM_000444.6(PHEX):c.2028_2032dup (p.Phe678fs)	PHEX	Pathogenic	X	22245682	22245683	G	GCATCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043219
single nucleotide variant	NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)	PHEX	Pathogenic/Likely pathogenic	X	22245657	22245657	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA260506
Deletion	NM_000444.6(PHEX):c.1989_1990del (p.Asp663fs)	PHEX	Pathogenic	X	22245646	22245647	GAC	G	criteria provided, single submitter	ClinGen:CA10603653
Duplication	NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)	PHEX	Pathogenic	X	22245643	22245644	A	ATGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509397