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.1775_1778dup (p.Tyr593Ter)	PHEX	Pathogenic	X	22239734	22239735	A	AAAAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509391
Deletion	NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)	PHEX	Pathogenic	X	22239792	22239793	GTT	G	criteria provided, single submitter	ClinGen:CA645509392
Duplication	NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)	PHEX	Pathogenic	X	22239842	22239843	G	GAAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509393
Deletion	NM_000444.6(PHEX):c.1899+2113_1957del	PHEX	Pathogenic	X	22241973	22244617	AGCATATTAGGAAGCAAAGGCTCTGGAGACAGAAGACTGCTTGGGTTCGAATCCCAGTGACATGCGAGCAGTTTACTTCATCACTCTGTCTTAGGTTCACTAGAAGCAGAGCCCAAGAAGGGGTTCCTTAGGTCATTGACTTTTTTGAGACAGCGTCTCGCTGAGTCACCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTCACTACAACCTCTGCCTCCCTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGCGATTACAGGTGCCAGCCACCACGCCTGGCTGATTTTTGTATTTTTAATAGATACGGGGTTTCTTCATGTTGGCCAGTCTGGTCTCAAACCCCTGACCTCAGGCAATCTGCCCGCCCCAGCCTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCAGGTCAGTGATTTATTCAGAAAGTCGTTTCAGGAAAAACCTATAATGGAATGAGGGAAACCTATTGGTTTCAGGAAATGTTTAGCCTCACCCTGATTCCACAGAGGATTCTGGAGCACGAACTGCACCACAGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCTGAGTGATTACAGTGAATAATATTTTCCAAAGATTTGTTTTTATTCATTGATATTGCTTGATACCTGGGTGACTGGGCTAGCTTAAAAGTAAAGTGTTGGTAAGATCCATGGCTTGAAAGTTAAAAGCAAGGTATATTAGTTTTCTGTTGCTTGCTATAACAAGTTACTATAAACTTAGTAGCTTCAAATAACATAAATTATCATACAGCGCTGTATGATTTATTATCATACAGCTCTGTATGTCAGAAGTCTGACATGGATCTCAGTGGACTAAAATCAAAGTGTCAGCAGGGCCACATTCCTTTGTAGAGGTTCTAGGGGAGTATCTGTTTCCTCGCCTTTTCTAGCTTTTAGAGGCTGCCCACATTCCTTAGCTCATGGCCCCTTCGTTTTTCAAAGCCAGCACTGGCCGGTGGAGTCTTCTCATGTTGCATCACTCTGACACTCGCTCTCCTGCCTCCCTTTTCCTCTTGTAAGAACTTTTGTAATTACACTGGGTCCACCTGGACAATCCAGGATAAAGTCTGCATCTCAGGATCCTTAATCACATCATAAAAGTCTCCTTTGCCATGCTTTATTTTTCCAGCTTCATTTTGTGGGGACCATTCCTCTGTGCCTGAATCTTTCTTTCTTCGCAGTGAATAAGGTAACATATTCACAGATTCCAGGGATCAGGACGCAGACATCTTTGGGAGGCCGTTATCCTGCGTGTTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTGAGAAACAATCTTGAATATTGGGAATAATTTTTTTTACCATGCTGGCTGGTTGTCATACATATCGCAGACCTCGACCTTGTGATCTGCACTACTTCTGTTTGATTTTTCTTCCCTAGGAGAACCACTTTCCTTTTAATTTTCCATGGAAATTGCTGAAGGTAAAATGATGATAGTTGGTCTTGAAATCTTGTTCCTGTGTGGATGGTAAATTTTTGGAAACACAGGCACAATGAGAAGAATACTCAAATTATGTGAGTTAATCAGAGAAAGTAACCTGTGTATTGACATTCCTGTTTTTTCCCATTAAACCAGAGTCACTCAGAATATTGTTAACATTTTATTGGAGCTGGCTAGATTGGTTAGAATGAAGAGGTAGGTGAAAAAGAAGTGTGTAGCATAATGAAATAGAAAGTATTACATTCCAGAGCACCTTGCTGAGGATAGTTTGCCATCTTTCTTACAATATATTATGCCTACCTCTGATTTATTGAATGTGATTTTCTCTTTAAAATATGATACTTTTCTTGCTATAATATTGATGCCTCTTGCTGAATGATAGTTGACCGTGAAACACGCATTCATTTTTTTTTTTTCCTTTTTTCTTTCTGTTAGGTCAAGGGGAAGAGGACCCTGGGAGAAAATATTGCTGATAATGGAGGCCTGCGGGAAG	A	criteria provided, single submitter	ClinGen:CA645509394
Duplication	NM_000444.6(PHEX):c.1910dup (p.Arg638fs)	PHEX	Pathogenic	X	22244568	22244569	G	GA	criteria provided, single submitter	ClinGen:CA645509395
single nucleotide variant	NM_000444.6(PHEX):c.1936G>C (p.Asp646His)	PHEX	Pathogenic/Likely pathogenic	X	22244596	22244596	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574202
single nucleotide variant	NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)	PHEX	Pathogenic	X	22244612	22244612	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574236
single nucleotide variant	NM_000444.6(PHEX):c.1965+1G>A	PHEX	Pathogenic	X	22244626	22244626	G	A	criteria provided, single submitter	ClinGen:CA412574267
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.1971C>G (p.Tyr657Ter)	PHEX	Pathogenic	X	22245629	22245629	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA412574293