ロスムンド・トムソン症候群 - MGenReviews

ロスムンド・トムソン症候群

腫瘍性疾患

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_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145739734	145739734	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.3280G>T (p.Glu1094Ter)	RECQL4	Pathogenic	8	145737407	145737407	C	A	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.2889del (p.Pro965fs)	RECQL4	Pathogenic/Likely pathogenic	8	145737941	145737941	GA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2662C>T (p.Gln888Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738323	145738323	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004260.4(RECQL4):c.2636dup (p.Gln880fs)	RECQL4	Pathogenic	8	145738348	145738349	A	AG	criteria provided, single submitter	-
Insertion	NM_004260.4(RECQL4):c.1223_1224insT (p.Gln408fs)	RECQL4	Pathogenic	8	145741182	145741183	C	CA	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.1051_1052del (p.Gly351fs)	RECQL4	Pathogenic	8	145741451	145741452	GCC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.910C>T (p.Gln304Ter)	RECQL4	Pathogenic	8	145741593	145741593	G	A	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.690_709del (p.Gly231fs)	RECQL4	Pathogenic	8	145741794	145741813	GGGCCCTGGGAGCCAGCACCA	G	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.686del (p.Gly229fs)	RECQL4	Pathogenic	8	145741817	145741817	AC	A	criteria provided, single submitter	-

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