X染色体連鎖性低リン血症性くる病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.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
single nucleotide variant	NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)	PHEX	Pathogenic	X	22245637	22245637	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603718
single nucleotide variant	NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)	PHEX	Pathogenic	X	22245629	22245629	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574293
Duplication	NM_000444.6(PHEX):c.1966_1969dup (p.Tyr657fs)	PHEX	Pathogenic	X	22245623	22245624	G	GGCTT	criteria provided, single submitter	ClinGen:CA16621337
single nucleotide variant	NM_000444.6(PHEX):c.1966-1G>C	PHEX	Pathogenic/Likely pathogenic	X	22245623	22245623	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621336
Deletion	NM_000444.6(PHEX):c.1966-9_1966-7del	PHEX	Likely pathogenic	X	22245615	22245617	CTCT	C	criteria provided, single submitter	ClinGen:CA645509396
single nucleotide variant	NM_000444.6(PHEX):c.1965+1G>A	PHEX	Pathogenic	X	22244626	22244626	G	A	criteria provided, single submitter	ClinGen:CA412574267