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.1149G>A (p.Trp383Ter)	RECQL4	Pathogenic	8	145741257	145741257	C	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_004260.4(RECQL4):c.674_675insT (p.Ala226fs)	RECQL4	Pathogenic	8	145741828	145741829	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2886-2A>G	RECQL4	Pathogenic	8	145737946	145737946	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.2869C>T (p.Gln957Ter)	RECQL4	Pathogenic/Likely pathogenic	8	145738041	145738041	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.2200+2T>C	RECQL4	Likely pathogenic	8	145738953	145738953	A	G	criteria provided, single submitter	-
Deletion	NM_004260.4(RECQL4):c.1770_1807del (p.Pro591fs)	RECQL4	Pathogenic	8	145739644	145739681	CAGGCAAAAGCAACTGGAGGCAGCTGTGCGGCTGGAGGG	C	criteria provided, single submitter	-
single nucleotide variant	NM_004260.4(RECQL4):c.1699C>T (p.Gln567Ter)	RECQL4	Pathogenic	8	145739831	145739831	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004260.4(RECQL4):c.1400del (p.Ala467fs)	RECQL4	Pathogenic	8	145740617	145740617	AG	A	criteria provided, single submitter	-
Indel	NM_004260.3(RECQL4):c.1171_1172delinsC (p.Gly391fs)	RECQL4	Pathogenic	8	145741234	145741235	CC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004260.4(RECQL4):c.574C>T (p.Gln192Ter)	RECQL4	Pathogenic	8	145741929	145741929	G	A	criteria provided, single submitter	-

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