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
Deletion	NM_000277.3(PAH):c.553_706+647del	PAH	Pathogenic	12	103248267	103249067	CCTATTAAGCTACTCAGATTTCAATTCAGTCCAAATTCACTGAATACCTGCTGTATATGCAAGACTGTGCTGGTTGTTTCCATATGCAGCACCTTACTTCATTCTCATAATTTCCCTATGGGAAAAGCTAAAGAGTTGATACAGTGTCCATTTGACAGATGACAAAACTGAGGCAGGTTTACTCAGCTGGAGAGGATTGAAGGCAGGATTCATACCAGATGCACAGACTCAGAGCTCAGGGCTCTTGGCACCATCCCCGAAAATAGCACATTTCTTACACAAACACACACTCCTAACTCATAACACAGCAGGAACTACAGGGCAAACAAAACAAAACAAAACAAAAAAAAACCTCAGTGAAGCACCTTGGGCTTTAAGTGTGAAAGAAAATACTTTTCAGGGACAGGTACACGGCAAAATCCACAGCCTCAGGTGTTTGATTGAATGAAAGTGGATAAACACAGTAGGGGCTGGAGGGAAGGCAGAGCACAGTGAAATTTAGTTCTTCCTGGAGGAATCAACCTGCATGCATTCCTACAAGCACATGCTTTCATACTTGCCTCCACATACTTGTCTTCCCCTTCCCTCTCCTCTGCCTCAATCCTCCCCCAACTTTCTGCAGGGCCATTGACCCTGATGTGGACTTACTCTGCAGGAACTGAGAAACGTCTTCCAGCTGGGGAATGTTATCTTCATGGAAGCCACAGTACTTTTCAAGAAGTGGAAAAATGTGATTGTACTCATAGCAAGCATGGGTTTTATACAAGGACTTCAGAGTCTTGAACACTGTGCCCCATGTTTT	C	criteria provided, single submitter	ClinGen:CA658656325
single nucleotide variant	NM_000277.3(PAH):c.226G>T (p.Glu76Ter)	PAH	Likely pathogenic	12	103288639	103288639	C	A	criteria provided, single submitter	ClinGen:CA16020752
Deletion	NC_000012.12:g.(?_102854491)_(102855289_?)del	PAH	Pathogenic	12	103248269	103249067	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_102866576)_(102866683_?)del	PAH	Pathogenic	12	103260354	103260461	na	na	criteria provided, single submitter	-
Deletion	NM_000277.3(PAH):c.707-12_711del	PAH	Pathogenic	12	103246724	103246740	TGCAAGCTGGGATGAAAA	T	criteria provided, single submitter	ClinGen:CA658797946
single nucleotide variant	NM_000277.3(PAH):c.1285C>A (p.Gln429Lys)	PAH	Likely pathogenic	12	103234208	103234208	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1247C>A (p.Pro416Gln)	PAH	Likely pathogenic	12	103234246	103234246	G	T	reviewed by expert panel	-
single nucleotide variant	NM_000277.3(PAH):c.1218A>G (p.Ile406Met)	PAH	Likely pathogenic	12	103234275	103234275	T	C	reviewed by expert panel	-
Deletion	NM_000277.3(PAH):c.1209del (p.Ala404fs)	PAH	Likely pathogenic	12	103234284	103234284	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_000277.3(PAH):c.1144T>C (p.Phe382Leu)	PAH	Pathogenic	12	103237479	103237479	A	G	reviewed by expert panel	-