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.254G>A (p.Cys85Tyr)	PHEX	Pathogenic	X	22065234	22065234	G	A	criteria provided, single submitter	UniProtKB:P78562#VAR_006739,OMIM:300550.0005,ClinGen:CA255559
single nucleotide variant	NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter)	PHEX	Likely pathogenic	X	22263519	22263519	C	T	criteria provided, single submitter	-
Deletion	NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer)	PHEX	Likely pathogenic	X	22265990	22265991	CTT	C	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1	PHEX	Likely pathogenic	X	22108547	22108570	na	na	criteria provided, single submitter	-
copy number loss	GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0	PHEX	Likely pathogenic	X	22108547	22108615	na	na	criteria provided, single submitter	-
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.1723G>A (p.Gly575Arg)	PHEX	Likely pathogenic	X	22237175	22237175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575758
single nucleotide variant	NM_000444.6(PHEX):c.1302+1G>T	PHEX	Likely pathogenic	X	22132705	22132705	G	T	criteria provided, single submitter	ClinGen:CA412573820
single nucleotide variant	NM_000444.6(PHEX):c.664-2A>C	PHEX	Likely pathogenic	X	22108545	22108545	A	C	criteria provided, single submitter	ClinGen:CA412571986
single nucleotide variant	NM_000444.6(PHEX):c.1645+5G>C	PHEX	Likely pathogenic	X	22208624	22208624	G	C	criteria provided, single submitter	ClinGen:CA645293924