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.1719dup (p.Ile574fs)	PHEX	Pathogenic	X	22237170	22237171	C	CT	criteria provided, single submitter	ClinGen:CA16621332
Deletion	NM_000444.6(PHEX):c.1765_1768del (p.Asn589fs)	PHEX	Pathogenic	X	22237217	22237220	TAATG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621333
Deletion	NM_000444.6(PHEX):c.1768+2del	PHEX	Pathogenic	X	22237222	22237222	GT	G	criteria provided, single submitter	ClinGen:CA16621334
Indel	NM_000444.6(PHEX):c.1961_1963delinsCT (p.Phe654fs)	PHEX	Pathogenic	X	22244621	22244623	TTA	CT	criteria provided, single submitter	ClinGen:CA16621335
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
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.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.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.2079C>G (p.Cys693Trp)	PHEX	Likely pathogenic	X	22263458	22263458	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621340
Deletion	NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs)	PHEX	Pathogenic/Likely pathogenic	X	22263496	22263497	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621341