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.136G>A (p.Gly46Ser)	PAH	Pathogenic	12	103306601	103306601	C	T	reviewed by expert panel	ClinGen:CA229439,UniProtKB:P00439#VAR_000875,OMIM:612349.0055
single nucleotide variant	NM_000277.3(PAH):c.140C>T (p.Ala47Val)	PAH	Likely pathogenic	12	103306597	103306597	G	A	reviewed by expert panel	OMIM:612349.0056,ClinGen:CA114370,UniProtKB:P00439#VAR_000876
single nucleotide variant	NM_000277.3(PAH):c.527G>T (p.Arg176Leu)	PAH	Pathogenic	12	103249093	103249093	C	A	reviewed by expert panel	ClinGen:CA114371,UniProtKB:P00439#VAR_000913,OMIM:612349.0058
single nucleotide variant	NM_000277.3(PAH):c.734T>C (p.Val245Ala)	PAH	Pathogenic	12	103246701	103246701	A	G	reviewed by expert panel	OMIM:612349.0059,ClinGen:CA114372,UniProtKB:P00439#VAR_000949
single nucleotide variant	NM_000277.3(PAH):c.1065+3A>G	PAH	Likely pathogenic	12	103238111	103238111	T	C	reviewed by expert panel	ClinGen:CA212751,OMIM:612349.0060
Deletion	NM_000277.3(PAH):c.1129del (p.Tyr377fs)	PAH	Pathogenic	12	103237494	103237494	TA	T	reviewed by expert panel	ClinGen:CA229356,OMIM:612349.0061
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
single nucleotide variant	NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	PAH	Pathogenic	12	103288671	103288671	A	G	reviewed by expert panel	ClinGen:CA251544,UniProtKB:P00439#VAR_000883,OMIM:612349.0063
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.227A>G (p.Glu76Gly)	PAH	Pathogenic/Likely pathogenic	12	103288638	103288638	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA114373,UniProtKB:P00439#VAR_067999,OMIM:612349.0067