フェニルケトン尿症

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_001354304.2(PAH):c.-95-4071_-95-313del	PAH	Likely pathogenic	12	103311316	103315074	TGGACTAAGCCTGCGACCGTCTGGTATAACAATTATATGAATAATCCGCCCCCCTTACCCCCAGCTGAAACAGTCAGGATTCTCATTTAGATTTTTGTTGTTGTTGTTTTCCCTTCTGTTAACCTCTAAGCACACTGCCTTGCTGTGCGCTGACTTCAGAAAACTACAGCTAGAGGGCACGTGAACGCTGAGCACAGCAGGTAAAGAGCAAATGTAAGAGCGATCTGGGTTTAAATCCAGCCTGGTGTTCTCCAGCTATTCGCACAACTGCTCCTGAAGCTCGGAAAAGAGGGTGGTAGAGCCACCTTGCTGGAAGGTTTTAAGAATAGGAATAAAGAAATGCATTAAAATTTAGTACAGTTCTTCCACATAAACACTCAGTAAATGGAAGATATTGTTTAAAAGCAAATCCACATAAATTTGACAATAATTACTGAGACCTGTACCGTGTGCTTGGTGGTGTTCTAGTCTTTGGGAATACAGCAATGAACAAAACAGACTCTGCCTCCCCAGCTATGCTGCCATTCTGGTGGGCAGAAAATAAACATATAAATAAGTTTAGGTAGGGCTAAGTCTTTTGAAGAAAGTAAAGTAGGGGGATGGTCTATGAGTGAGCTGGTGGGATTTGGCCAGTGGTCTTCAAATAGTCAGGAAGATGCCATTAACCACACTTTTAGAGAAGACTGAGGGTGAGGCATTACTGACCAGGAGGTAAAACAAAGTATAAAAGAATGCTGGAAAGCAGGTTCAGAGGTTCAGAAAGGATGTGAAAACTCAGGGGCCTCAAGCCTTGAGTGCCTGCTTAATATTTTCCCAAGAGAAAGTAATGGGCTGTAAGAAAATAAGCCAATAATAAAGGTTGCTGGAAGCCCATCCCTCTCCTCCCACTGTTCTTTGACCAAGCATCTGAAAATAAATAAACAAATAAATAAATAAATAAGTAAAATAAAACTCAGGTTTAGGATTCAAAACAAGTGGTTTAACTCTTGGTTCTACCACTGATTTGGTCAAGCCCATGCCTCAGTTTTTTTTTGTTTTTTTTTTTTGTTTTGTTTTTGTCTTTAAAATGAGAATTTTAAGGGATATTTAGGATTCCTTAAGCCTTTATGATGTGCCAGGCTGTCTACTGTCTGCTAAGAATACAGATATAACAAGTGCAATTTCTGTCCAAAAGGAACCTTTAGGGGCCTGATGAATATTTCCCATAGTAAGTTGGAAGCTCAATGTTGTTAAATATTGAAGGCGAAGATCTTGATTTCCATCCTCAGGAGAATCTGTATTCTTTATCTGACTCCGGCATTTTTCAGTGTAGTAGACATAAAACATGTTGTATTCCTCAGCCTCAGGATTTTCTTACAAACATAATTTCATCCCTTGATGCTACTTGAGGGCAATGAATGTGACAACTCCAAAAATATTACAGGCATGCAATAAAGAAAAGCAAAGAATATTATCTACTTATTTGCATGCACACTCTGTCTTAGACACTGTGCCACGCTCTCCACGTGCATGGTTTCACTTCTTCCTCTTAACAATCCCATGAACTATGCACTCCCTTTTAATAGGCAAGAAACTGAGGCCTAGGAAGTTTAAACAAATGGCCCAAATTCAATCTATGTTTCACCCAACACCAAGGCACTGCACTGGCTCTCAAATACTTTTGCTTTCCTGTTTGAAATGAGGACAACATAATTTTTAGGACAACAAAATGATAGCTTTTCTTTCTTCTCCCCATAACAGCTGAAAATGCAACTCTTTTTTCTAATGTTTAATTTTTGTGGGAACATAGTAGATGTATGCATTCATGGAGTATGTGCAATATTTTGATACAGGCATGCAATGTGTAATAATCACATCATTGAAAATGGGGCATCCATCCCCTCAAGCATTTATCTTTTGTGTTGCAAACAAGCCAATTATACTCTTTCAGGTATTTTTAAATGTATAATTAAATTATTTTGACTATATTCGCCCTGTTGTACTATCAAATACTAGGTCTTATTCATTCTTTCTATATTTTTTTGTACCTATTAACCATCTCCACCTCCCCTCCAGGCCCCTACTACCCTTCCCCACCTCTGGTAATTAGCTCTCTACTCTCTAGCTCCATGAATCAGATTGTTTTGATTTTTAGACCCCACATATGAGTGAGAATATGTGATGTTTGGCTTTCTGTGCCTGGCTTATTTCATTTGACATAATGACCTCCAGTTCTGTCCATGTTATTGCAAATAACAGGATCTCATTCTTTTTTATTGCTGAATAGTACTCCATTGTGTATTAAAGTACCACATTTTTTTAAAACCCATGTTGATGGAGACTTGGGTTGCTTCCAGATCTTGGCTATTGTGAACAGTGCTGCAACAAACATAAAAGAACAGACATCTCTTTGATATACTGATTTCCTTTCTTATAGGTATATACCCAGCAGTGGGATCACTAGATCATATAGTAGCTCTATTTTTAGTTTTTTGGGGAACTGCCAAACTGTTCTCCATAGTGGTTGTACAAAAATGGAATTTTTAATCCTATCTCACATAAAAATGCCCTAAATCTAGGTTGAGAGGAAAGCACATCATTGCTATCTGAGAGAAGAAAAACTAATCGCTTCTTTAAAAAAAATTATTCTGGCAAAAAGGAAAAATTTATTTATGCACTAAGATAAAAATAAGAGATTGCTTGTGCCATAAACTTGCAGATGATTTTTAAGCCACCTTTTTGTTCAATTTGGTTGGAATGCAATGTGCTGCTATAATGAGAGCAGTGCTGGGTGCTAAGGAAATGGAGGAAAAAAAGGCACATCTAGAAGAAGCATCCACAGTCAGTCAGTAGACCACTGAGGTATTTTTTAACACTGCACAGAGGTGGGGAACATGTCACAAGATGAGAAGTTGTGTACTTGGCAAACTTAGAGCTGACCTTTGCTGATTTGGAAGTTGAAGATTACCCAACCATTGCAGGTTTATCAGTTCTTTCTTGTTTATCTTCATGTGCAGAAGGTTGAGTTAATCATAATCCATGAGTTCATGGCACAGAAACAAAACCTACATGACCCTTCTCTTGTTTTTTTATTCATTCTCTTTTATCATAATTCCTCACTCTCACTGCCTTTCCCCAGAGGCAACTTCTCTAATATGATGTTTAGCCTTGAACTTGTAAAATACATAGAAATGTTTGTGCGTATATGTATTTTTCATGGATATGTGATGTGGCACTATAGATTTACTACAATCTATGGATGTACTATAGATTTCATAGTTTCTTTTTTCTTTCAACTGTGTTCTTAGGATCCAGCCATGCTGCTGAATATGTATCTAGTTCTTTGCTTTTCTAAATGGTTCAGAATATCCCAGTGTGTATTTGCCACACTTGACTTCTTTATTTTCCAGTTATGGACATCTAAGTCATTGCTAATTTTTCACCACCCCAAACAATACTGTGATAAATTTCCTTATCTTTCTTCCCTTATAGGCCTGGGGTAGAAATTTTCTGGGATAGAAGAGTGGTGCTATTATGAATCATAGGGAACATGCACTCTTAATTTCACAAAGTGCTGCCAGATTGCCCTTTAGAGTGGCTTGGACCAGTCTACACACCAACCAGCAGGCAAAAGAGTTCCTATTGGTGGGTATACCTAATATGTGGTATTCTCCAAAGGTCAGAATTTTTGCCAATCTGATCAGCATAAGCTGGTGTCTTGTTGTTTTTAATTTGAATTTCTCTCATAACTCATGAGTTTGAGCATCTCTTTATATACTTA	T	reviewed by expert panel	ClinGen:CA281520,dbVar:nssv7487194,OMIM:612349.0066
Deletion	NC_000012.12:g.(?_102917061)_(102917140_?)del	PAH	Pathogenic	12	103310839	103310918	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.1A>T (p.Met1Leu)	PAH	Pathogenic	12	103310908	103310908	T	A	reviewed by expert panel	ClinGen:CA229482
single nucleotide variant	NM_000277.3(PAH):c.1A>G (p.Met1Val)	PAH	Pathogenic	12	103310908	103310908	T	C	reviewed by expert panel	ClinGen:CA114360,OMIM:612349.0009
single nucleotide variant	NM_000277.3(PAH):c.2T>C (p.Met1Thr)	PAH	Likely pathogenic	12	103310907	103310907	A	G	reviewed by expert panel	ClinGen:CA312807
single nucleotide variant	NM_000277.3(PAH):c.2T>G (p.Met1Arg)	PAH	Pathogenic	12	103310907	103310907	A	C	reviewed by expert panel	ClinGen:CA229509
single nucleotide variant	NM_000277.3(PAH):c.3G>C (p.Met1Ile)	PAH	Likely pathogenic	12	103310906	103310906	C	G	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.3G>A (p.Met1Ile)	PAH	Pathogenic	12	103310906	103310906	C	T	reviewed by expert panel	ClinGen:CA229532,OMIM:612349.0048
single nucleotide variant	NM_000277.3(PAH):c.32T>A (p.Leu11Ter)	PAH	Pathogenic	12	103310877	103310877	A	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.58C>T (p.Gln20Ter)	PAH	Pathogenic	12	103310851	103310851	G	A	reviewed by expert panel	ClinGen:CA229635