複合カルボキシラーゼ欠損症 - MGenReviews

複合カルボキシラーゼ欠損症

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_001370658.1(BTD):c.-17+1G>A	BTD	Likely pathogenic	3	15643402	15643402	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040905
single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>C	BTD	Likely pathogenic	3	15643402	15643402	G	C	criteria provided, single submitter	ClinGen:CA16040906
single nucleotide variant	NM_001370658.1(BTD):c.-17+1G>T	BTD	Likely pathogenic	3	15643402	15643402	G	T	criteria provided, single submitter	ClinGen:CA16040907
Deletion	NM_001370658.1(BTD):c.-17+1del	BTD	Likely pathogenic	3	15643401	15643401	AG	A	criteria provided, single submitter	ClinGen:CA16040908
Duplication	NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)	BTD	Pathogenic/Likely pathogenic	3	15676992	15676993	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16040909
single nucleotide variant	NM_001370658.1(BTD):c.249+1G>T	BTD	Likely pathogenic	3	15677196	15677196	G	T	criteria provided, single submitter	ClinGen:CA2277279
Duplication	NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)	BTD	Likely pathogenic	3	15683476	15683477	C	CCATT	criteria provided, single submitter	ClinGen:CA16040910
single nucleotide variant	NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)	BTD	Likely pathogenic	3	15686492	15686492	G	T	criteria provided, single submitter	ClinGen:CA16040911
Duplication	NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)	BTD	Likely pathogenic	3	15686531	15686532	G	GCT	criteria provided, single submitter	ClinGen:CA16040912
Deletion	NM_001370658.1(BTD):c.1264del (p.Val422fs)	BTD	Likely pathogenic	3	15686683	15686683	TG	T	criteria provided, single submitter	ClinGen:CA16040914

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