フェニルケトン尿症

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_000277.3(PAH):c.1220C>T (p.Pro407Leu)	PAH	Likely pathogenic	12	103234273	103234273	G	A	reviewed by expert panel	ClinGen:CA229402,UniProtKB:P00439#VAR_068007,OMIM:612349.0062
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
single nucleotide variant	NM_000277.3(PAH):c.355C>T (p.Pro119Ser)	PAH	Likely pathogenic	12	103271326	103271326	G	A	reviewed by expert panel	ClinGen:CA220582
single nucleotide variant	NM_000277.3(PAH):c.500A>T (p.Asn167Ile)	PAH	Likely pathogenic	12	103260383	103260383	T	A	reviewed by expert panel	ClinGen:CA220584,UniProtKB:P00439#VAR_000906
single nucleotide variant	NM_000277.3(PAH):c.841C>T (p.Pro281Ser)	PAH	Likely pathogenic	12	103246594	103246594	G	A	reviewed by expert panel	ClinGen:CA220587
single nucleotide variant	NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)	PAH	Likely pathogenic	12	103238205	103238205	T	C	reviewed by expert panel	ClinGen:CA220593,UniProtKB:P00439#VAR_009245
single nucleotide variant	NM_000277.3(PAH):c.1027T>G (p.Tyr343Asp)	PAH	Likely pathogenic	12	103238152	103238152	A	C	reviewed by expert panel	ClinGen:CA229280
single nucleotide variant	NM_000277.3(PAH):c.1030G>A (p.Gly344Ser)	PAH	Likely pathogenic	12	103238149	103238149	C	T	reviewed by expert panel	ClinGen:CA229285
single nucleotide variant	NM_000277.3(PAH):c.1031G>A (p.Gly344Asp)	PAH	Likely pathogenic	12	103238148	103238148	C	T	reviewed by expert panel	ClinGen:CA229288
single nucleotide variant	NM_000277.3(PAH):c.1033G>A (p.Ala345Thr)	PAH	Likely pathogenic	12	103238146	103238146	C	T	reviewed by expert panel	ClinGen:CA229291,UniProtKB:P00439#VAR_001010