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_001005242.3(PKP2):c.2168-1G>A	PKP2	Likely pathogenic	12	32949233	32949233	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614123
single nucleotide variant	NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe)	PKP2	Pathogenic	12	32975528	32975528	G	A	criteria provided, single submitter	ClinGen:CA16614124
Deletion	NM_001005242.3(PKP2):c.1625del (p.Leu542fs)	PKP2	Pathogenic	12	32977028	32977028	CA	C	criteria provided, single submitter	ClinGen:CA16614127
Duplication	NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs)	PKP2	Pathogenic	12	32977056	32977057	T	TCATC	criteria provided, single submitter	ClinGen:CA16614128
single nucleotide variant	NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)	TGFB3	Pathogenic/Likely pathogenic	14	76427312	76427312	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614244
Deletion	NM_003239.5(TGFB3):c.883_884del (p.Gly295fs)	TGFB3	Pathogenic	14	76429701	76429702	ACC	A	criteria provided, single submitter	ClinGen:CA16614471
single nucleotide variant	NM_001943.5(DSG2):c.690+1G>A	DSG2	Pathogenic	18	29102213	29102213	G	A	criteria provided, single submitter	ClinGen:CA049624
Duplication	NM_024422.6(DSC2):c.882dup (p.Phe295fs)	DSC2	Pathogenic	18	28666598	28666599	A	AT	criteria provided, single submitter	ClinGen:CA16616022
Indel	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	LMNA	Likely pathogenic	1	156084873	156084877	AGAAC	TCT	criteria provided, single submitter	ClinGen:CA16616999
Deletion	NM_170707.4(LMNA):c.835del (p.Glu279fs)	LMNA	Pathogenic	1	156105002	156105002	TG	T	criteria provided, single submitter	ClinGen:CA16617000

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