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.1303-1G>C	PHEX	Pathogenic	X	22151639	22151639	G	C	criteria provided, single submitter	ClinGen:CA412574523
single nucleotide variant	NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)	PHEX	Pathogenic/Likely pathogenic	X	22151741	22151741	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10368231
single nucleotide variant	NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)	PHEX	Pathogenic/Likely pathogenic	X	22186430	22186430	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412573942
single nucleotide variant	NM_000444.6(PHEX):c.1482+5G>C	PHEX	Pathogenic	X	22186511	22186511	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509383
single nucleotide variant	NM_000444.6(PHEX):c.1483-2A>G	PHEX	Pathogenic	X	22196388	22196388	A	G	criteria provided, single submitter	ClinGen:CA412574700
single nucleotide variant	NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)	PHEX	Pathogenic	X	22196430	22196430	A	C	criteria provided, single submitter	ClinGen:CA412574864
Deletion	NM_000444.6(PHEX):c.1560del (p.Trp520fs)	PHEX	Pathogenic	X	22196466	22196466	TG	T	criteria provided, single submitter	ClinGen:CA645509384
Insertion	NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)	PHEX	Pathogenic	X	22196475	22196476	A	AT	criteria provided, single submitter	ClinGen:CA645509385
Duplication	NM_000444.6(PHEX):c.1572dup (p.Val525fs)	PHEX	Pathogenic	X	22196477	22196478	G	GC	criteria provided, single submitter	ClinGen:CA645509386
single nucleotide variant	NM_000444.6(PHEX):c.1586+1G>A	PHEX	Pathogenic	X	22196494	22196494	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575008