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
Deletion	NM_000444.6(PHEX):c.1587-2145_1645+3342del	PHEX	Pathogenic	X	22206416	22211961	GCTCAGGCAGTCCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTATATTTGCATGCCACTGCTGGGCCTAGGAGTTTATTTTTAGCAATTTTGCTTAAGATGAATTGCTTGGTTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAAACAATCCGCTTATATTATTATAGTTATCTTAAAATGTACAATTACTATTGACTATAGTCACCCTGTTGTGCTATCAAATACTAGGTCTTATTCATTCTTTCTAACTATACATTTTTTGTACCCATTACCCATCCCCACTTCTCCCCCATTCCCCTACCGCCCTTCCCAACCTCTGGTAACCATCCTTCTACTCTCTATCTCCACGAGTTCAATCGTTTTGGTTTTTAGATCCCACAAATACGTGAGATCTCACAAATACGTGAGAACATGCAATGTTTGTCTTTCTGTGCCTGGCTTATTTCACTTAACATAATGACCTCCAGTTCCATCCATGTGTTGCAAATGACAGGATATCATTCTTTTTATGGCTGAATAGTACTCCATTGTGTATATGTACCACATTTTCTTTATCCATTCACCTGTTGGTGGACACTTAGGCTGCTTCCAAATCTTGGCTATTGTGAACAGTGCTGCAACAAACATGGGAGTGCAGATATCTCTTTGATTATTTTCTTTCCTTTGAGTATATACCCAGCAGTGGGGCTGCTGGATCATATGGTAGCTCCATTTTTAGTTCTTTGAGGAACCTCCAAATTGGAGAAGCATAACTTTGAACCCCAATTAAGCAAAAGGTTATCTCATCCCAAAATAATTCCGTTATTCTCATTAATAGGCATATATTAGAAATAATTGTACTCAGCTGGGCATGGTGGCTCACGCCTGTAGTCCCAGAACTTTGGGAGGCTGAAGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGCCGAAACCCTGTCTCTGAAAAAAAAAAGAGAAATAATTGTACTTGATTACTATTGTTATTTTTTGGATTTCATCAATAAAATTTGTGGACAGTTTGCTCTTAAGTACCTACGTAATATCCTTGATTTTGCCTCTTTGCCTGTAAAGCCTAAAATATTTATGATCTCACTCTTTACAGAAAAAAATTTGCTGACTGCTGATCCCAGTAACCTATTGTGCATTTAAGGTTTGGGTGTAGACTCCTTTTAGATAGAAGGGATCCTTTAGATGTCCTAATGCAATGCCTTAATTTTATAGCTAAAACCAAACCCCAGGAAGGTAGGTGACTCTTCCCACACAATTCAGCTAGTTAGTGATAGAGGCAGTACACTTTCCACTGGAGCAGGCAGACCCTCTGGGTGGCATAGTTGGACTTTATTCATCTTTCTTTAAATGGACCTCTGTGTTGTCACCAATCCAGAACTTTTAAATGGACAGGCCAGAGGTAATGCAGCATAGAAACCCAATTGTCCATTCAACCCATTGAATAGGGCCTGGCAAATATATAGTTGCTGTGTTTCCATTTGCAGGGACAGCCCTTTAGATTCTAGAATTTCTCTTTAAAACTTTTTCAAAAGCACTGGTGTGCTGACTTTTTTTCTGTTAAGTTAGTAACAATAAATAACTGGGCATGTTAATATATTTTCATTGAGCCATGTTCAGTTTAGGATGAGATTGTTCATTGAGCAGTACAGTAGCCCCAAACTGAGGGAATAATTTCCCCTCATGTCCAACATCCCCATTGTTCCATGTTATCTGCTAATAAACCCAGCCATGCTGTGTTTGTCTTTGCTTCCCTCCTGCCTGTATAATGATGATTGCTCTCTGGCATTTGTTTCTTTTTCTACAGGTGGTTTACAAATCCGACGACTGTCAATGCCTTCTACAGTGCATCCACCAACCAGATCCGTGAGTACGGGTTCCTTGTCTCCTTGGTAACCTGGTATAAAATGCAAAGAACTTTTCCATGACTATGATGGAGGGTAAGACATTTCTTATTTCCCCCAAAAGTGGCAGGGTATGCTGGTGAAGGAAGGTTGTTCTCCTACCTATATGCCAAATTTTCCTCACTCTCTTCACCTTACCAGTTTTTTTTAAAGCTTTATGTCACCACTGATTGAAAAAAAGTCAACTACAGTAAACCAAATTAAACCATAATGAAGTTTGCCATGAAAAGGAGCAAGTTTCCACTTTCCTTTCATAATGGCCTTACTGATTTTGTCCATGCCATTTTATTCATTCCTAGGATTGGTGGGGAAAACAGCAGGTAACTGAGCAGATTGTAGAACCTGAGCGGACCATCTGTATGTAAGAAAGAAGCTTGGAAATATTCTTATTAACGCTAGGAAGTTATGTCTTGAGGTTTTCTACTTACATGTATCAGGTATATGTAATTAAAAATACCATGATAAATTTAAAAAATTATTATTTTTATTATTTTTTAAAGACAGAGTCTCCCTCTGTCACCTAGGCTGGAGTTCAGTGGTACGATCCTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAATTATTCTTGTGCCTCAGCCTCCTGAGTAGCTAGGAGTACAGGTGTGCACCACCACGCCCAGCTAAATTTTTTTTATTTGTATTTTTAGCAGAGATGGGGTTTTGACATGTTGACTAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCTGCCCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCTTAAAAAATTATTAAGATCTGAATGGCACAAATAAAAAGTCTGACAGCTTCCAGCCTTGGCAATAAGGACACATACTCACTGCTGGTGGAAAGATAGATGGGCTCATCCACTTTGCAGGGCAATTTGACAATATCTCAAAAAGCTGAAGTTGTGCATGCATACCTATGACCATGATGTGTGCTCCTGGAATGTGCTCTAATGTTGTGAGTCTTGAAATGTGGTCCTTGGACCTGCAGTAATAGCATCATGGGGGATCTTGTTAGAAATGCAAATTCCCAGGCCCCACCTTAGGTCTATTGATCAAACTTTGGATGTGGAGCTCAGAAATCTGGTGCAATAAAACCTGCAGGTGATTGTAATGTATGCTAAAGTTTGGGAACAGCTGCCCTAGAGAACTCTTGCACAAGGCATAAAGAAGCCCATGCAAAAATGCTCATAACAGTATTATTTATAATAGTAGAAAAAGCAAAATAACCTACATATTCCTCTGCAGGAAGATGAGTCACATGTGGCATATTCACACAAAGGAATACCATACAGCAGTGAAAAATGAGCAACATATATTAACATGGATGAATTTCACAAGTAAAACAACTTGGGAAAATATATCAAGTATGATACTATATAAATAAAGTTGAAAATCATGCAGAACAATTCTACACATGGTTTGGAGGTCCATCCATTTGTAGTGTAAGTGTAAAGACATTCATGAGAATGACAAACACCAAATTCCGGTTGGTGGTGGCTTGTCTTGGGGAGGGTGGGCCACTGTTGCTCAAATCCTTGCTGGTTTCTCCTCATCTCCCATATCTCTTAATGATGGCATGCCCCAAGGCTCAGTCTGCACCTTTTCTGTTCTCTTCTCTCCATCTTTGCTCACTTGCTTGGTGATAACATCTAATCTCATGGTTTTAATCACATTTCTACAGTGTTGAATGCAGGGGATGGAATTTATCACCCTTGTTCATACCACTACTATCTCCCACCTGGATTATGGTAATAGCCTCCTCATTGGCCTCCCTGCTTTTGTTCTTACCCCCCTTCAGTCTATTCTAAATATAATATTGTAGCGATTTTAAGACGTTTTACAATCACATCGTGTCACTTCTTTGCTCAAAAGCTTTTATCAGCATCCCATCTCACTCAGAGAAAGAGCCAAATTATTTATAATGGCCTTAAGGTCTGTTATCTTTCTGCCTGTACCTCCTGCTACTCTCCCCCTTCCTCCCTCCTTCTGTTCCGGCCACACTGGCCTCCTTCGTGTTTATAGAGCACACCTGACACGCTCTGCTCTGGGAGCATTTATACCTGGGGTTGGCTTTCTCTTGGAAAACTTCCCCAAGTGACCTGCCTGGTTTATGCTCCCATTTCCTTCAAATCTTTATTCAAAGGCCAGGCCACCTCCTTAGGGAGGCATCCTGCCTTCCCTCTGGCCAGTTGGCCAGTCTGCCGTGGGTCCTCCATACTGGCCGTTGTTCCTACAGGACTCTGGTCAGAGGACAGCCGGAAGGCTGTGGCTGCTCACTACCAGCTGGCACATCTTCTTAGAGCCGCCCTCGTGTGGCCACTGTTAGGAATGGCAGTTTCTGCCCGACTTCGGTCTGAGAGAGAAATGAACAGAAAGACGAAAGACAAGCAGATGGCGGGATTTTTTTATTTATACATTAATTTACATAACCAAGTAAGTTGTTAAATATTTTGAATGTCACTTCTTACTGTATAAATATTCATTATCACGAAACTACCATTGCTTTCTTAAGGCCCTAAATGCCAACTTGAGAACTAAGTTGCATATGTTATATGGGAACTTATGATATTTGAGTTATTAATTATAACTAATACTTATAATAATTTATTATTAATTATAATCACATTTAGGACATTCTATTGGGAAATAGAAATTGTTTAGATTATTCACTTAAAAACGTTTTATTGTCTAATATTTGGTACATGCAAAAGAACATGTAACATTTTGGCACATATAAGTTATAAAGAATATATGAAAACATGACGAAATTAATATGTGCCTACGACGCCCTCACCCCATCAGGAACCATCCCTCCCTCTCACCACAGAAGTAACACTCTTCTGATTTGAGGGTTTATCATTTTTGTTTTGTTTTTTTAAAATAAAACTTTATTTATATAGGTATCCCTAAAGAATATGTTGTTTATTTTTACTTGTTTCTTAGTATAATAAAAATGGTATCTTACTGTATGCAATCTTAAACAACTGCGATTTTTCAGTCAACATGTTTTTAGGATTTGTTCGTGTAGCATGTGGTGGTAGGTTGTTTTCATGTTCACTGCTGTATAATATTTCATGACTGTACCCCCAGATTGTTTATTCTTCTGTTGTCCAGCCTATGAGTCCCCACACCCAGGTTTTTGCTTATGAACAGTGCTGCTCTGCATATTCTTGTGAATGTCTCTTGGAACAAGTGTCTGAGGGTATACATCCAGGAGTGGAATTATTGGCTGATAGGAAGAAGTTATCTACCAGATAATATCAAATGT	G	criteria provided, single submitter	ClinGen:CA645509387
single nucleotide variant	NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)	PHEX	Pathogenic	X	22208564	22208564	G	C	criteria provided, single submitter	ClinGen:CA412575027
Deletion	NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)	PHEX	Pathogenic	X	22231023	22231024	ATT	A	criteria provided, single submitter	ClinGen:CA645509390
single nucleotide variant	NM_000444.6(PHEX):c.1700+2T>C	PHEX	Pathogenic	X	22231077	22231077	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575713
single nucleotide variant	NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)	PHEX	Pathogenic/Likely pathogenic	X	22237170	22237170	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575749
single nucleotide variant	NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)	PHEX	Pathogenic	X	22237187	22237187	G	C	criteria provided, single submitter	ClinGen:CA412575782
single nucleotide variant	NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)	PHEX	Pathogenic/Likely pathogenic	X	22237205	22237205	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575822
single nucleotide variant	NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)	PHEX	Pathogenic	X	22237206	22237206	G	A	criteria provided, single submitter	ClinGen:CA412575823
single nucleotide variant	NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)	PHEX	Pathogenic	X	22237215	22237215	A	G	criteria provided, single submitter	ClinGen:CA412575846
single nucleotide variant	NM_000444.6(PHEX):c.1768+1G>A	PHEX	Pathogenic	X	22237221	22237221	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412575860