遺伝性フルクトース不耐症 - MGenReviews

遺伝性フルクトース不耐症

小児・神経疾患

疾患の紹介

病的バリアントリスト

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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
Deletion	NM_000035.4(ALDOB):c.865del (p.Leu289fs)	ALDOB	Pathogenic	9	104187259	104187259	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347831
single nucleotide variant	NM_000035.4(ALDOB):c.324+1G>A	ALDOB	Pathogenic	9	104192036	104192036	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347812
single nucleotide variant	NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104187236	104187236	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041283
Deletion	NM_000035.4(ALDOB):c.546del (p.Leu183fs)	ALDOB	Likely pathogenic	9	104188915	104188915	GT	G	criteria provided, single submitter	ClinGen:CA16041284
single nucleotide variant	NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter)	ALDOB	Pathogenic/Likely pathogenic	9	104189860	104189860	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041285
Deletion	NM_000035.4(ALDOB):c.420del (p.Asp141fs)	ALDOB	Likely pathogenic	9	104189884	104189884	CT	C	criteria provided, single submitter	ClinGen:CA16041286
single nucleotide variant	NM_000035.4(ALDOB):c.379+1G>A	ALDOB	Likely pathogenic	9	104190750	104190750	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041287
single nucleotide variant	NM_000035.4(ALDOB):c.324+2T>A	ALDOB	Pathogenic/Likely pathogenic	9	104192035	104192035	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041288
Deletion	NM_000035.4(ALDOB):c.112+1del	ALDOB	Likely pathogenic	9	104193057	104193057	AC	A	criteria provided, single submitter	ClinGen:CA16041289
single nucleotide variant	NM_000035.4(ALDOB):c.800-2A>C	ALDOB	Likely pathogenic	9	104187326	104187326	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5161455

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