不整脈原性右室心筋症 - MGenReviews

不整脈原性右室心筋症

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
single nucleotide variant	NM_003239.5(TGFB3):c.517-1G>C	TGFB3	Likely pathogenic	14	76437599	76437599	C	G	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32802383)_(32802576_?)del	PKP2	Pathogenic	12	32955317	32955510	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.1410del (p.Lys470fs)	PKP2	Pathogenic	12	32994108	32994108	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)	DSC2	Pathogenic	18	28650742	28650742	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001943.5(DSG2):c.45+1G>A	DSG2	Likely pathogenic	18	29078260	29078260	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2257del (p.Ala753fs)	DSG2	Pathogenic/Likely pathogenic	18	29122735	29122735	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)	DSG2	Pathogenic/Likely pathogenic	18	29125877	29125877	CA	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs)	DSG2	Pathogenic/Likely pathogenic	18	29126107	29126108	G	GTAGC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.512_516del (p.Leu171fs)	DSG2	Pathogenic/Likely pathogenic	18	29101191	29101195	AGAGTT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2	Pathogenic/Likely pathogenic	18	29118885	29118886	T	TG	criteria provided, multiple submitters, no conflicts	-

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