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
Duplication	NM_000444.6(PHEX):c.884_885dup (p.Met296fs)	PHEX	Likely pathogenic	X	22115106	22115107	G	GCC	criteria provided, single submitter	ClinGen:CA260511
copy number loss	GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0	PHEX	Pathogenic	X	22117253	22127885	na	na	criteria provided, single submitter	dbVar:nssv578423
single nucleotide variant	NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)	PHEX	Pathogenic/Likely pathogenic	X	22237187	22237187	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576256,UniProtKB:P78562#VAR_006745
single nucleotide variant	NM_000444.6(PHEX):c.134T>A (p.Leu45Ter)	PHEX	Pathogenic	X	22056602	22056602	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588755
Deletion	NM_000444.6(PHEX):c.538del (p.Trp180fs)	PHEX	Pathogenic	X	22095693	22095693	GT	G	criteria provided, single submitter	ClinGen:CA10588757
Deletion	NM_000444.6(PHEX):c.850del (p.Glu283_Ile284insTer)	PHEX	Pathogenic	X	22115073	22115073	GA	G	criteria provided, single submitter	ClinGen:CA10588758
single nucleotide variant	NM_000444.6(PHEX):c.1079+1G>A	PHEX	Pathogenic	X	22117270	22117270	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588759
single nucleotide variant	NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter)	PHEX	Pathogenic	X	22132606	22132606	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588760
single nucleotide variant	NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter)	PHEX	Pathogenic	X	22132611	22132611	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588761
single nucleotide variant	NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter)	PHEX	Pathogenic	X	22151700	22151700	G	T	criteria provided, single submitter	ClinGen:CA10588762