フェニルケトン尿症 - MGenReviews

フェニルケトン尿症

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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
single nucleotide variant	NM_000277.3(PAH):c.155T>C (p.Leu52Ser)	PAH	Likely pathogenic	12	103306582	103306582	A	G	reviewed by expert panel	ClinGen:CA229443
single nucleotide variant	NM_000277.3(PAH):c.157C>T (p.Arg53Cys)	PAH	Likely pathogenic	12	103306580	103306580	G	A	reviewed by expert panel	ClinGen:CA229445
single nucleotide variant	NM_000277.3(PAH):c.161T>C (p.Leu54Ser)	PAH	Likely pathogenic	12	103306576	103306576	A	G	reviewed by expert panel	ClinGen:CA229448
Deletion	NM_000277.3(PAH):c.163_165del (p.Phe55del)	PAH	Likely pathogenic	12	103306572	103306574	CAAA	C	reviewed by expert panel	ClinGen:CA229450
single nucleotide variant	NM_000277.3(PAH):c.168+1G>A	PAH	Pathogenic	12	103306568	103306568	C	T	reviewed by expert panel	ClinGen:CA229452
single nucleotide variant	NM_000277.3(PAH):c.168+5G>A	PAH	Likely pathogenic	12	103306564	103306564	C	T	reviewed by expert panel	ClinGen:CA229453
single nucleotide variant	NM_000277.3(PAH):c.168+5G>C	PAH	Pathogenic	12	103306564	103306564	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA229454
single nucleotide variant	NM_000277.3(PAH):c.168G>T (p.Glu56Asp)	PAH	Pathogenic	12	103306569	103306569	C	A	reviewed by expert panel	ClinGen:CA229459,UniProtKB:P00439#VAR_000880
single nucleotide variant	NM_000277.3(PAH):c.169-13T>G	PAH	Likely pathogenic	12	103288709	103288709	A	C	reviewed by expert panel	ClinGen:CA229460
Deletion	NM_000277.2(PAH):c.169_171delGAG	PAH	Likely pathogenic	12	103288694	103288696	TCTC	T	reviewed by expert panel	ClinGen:CA229461

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