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

Excelでダウンロード

1
...
53
54
55
56
57
...
80

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
Indel	NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)	DSP	Pathogenic/Likely pathogenic	6	7581305	7581309	AGGAG	TTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657575
single nucleotide variant	NM_001005242.3(PKP2):c.1557-2A>G	PKP2	Pathogenic	12	32977098	32977098	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384365117
Deletion	NM_001005242.3(PKP2):c.1474del (p.Ser492fs)	PKP2	Pathogenic	12	32994044	32994044	GA	G	criteria provided, single submitter	ClinGen:CA658658128
Deletion	NM_001005242.3(PKP2):c.1202_1209del (p.Leu401fs)	PKP2	Pathogenic	12	33003869	33003876	GGAGCTGCA	G	criteria provided, single submitter	ClinGen:CA658658130
Duplication	NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter)	PKP2	Pathogenic	12	33031932	33031933	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658132
Deletion	NM_001005242.3(PKP2):c.198del (p.Lys67fs)	PKP2	Pathogenic/Likely pathogenic	12	33049468	33049468	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658133
Duplication	NM_001005242.3(PKP2):c.190dup (p.Leu64fs)	PKP2	Pathogenic/Likely pathogenic	12	33049475	33049476	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA6508312
Duplication	NM_001005242.3(PKP2):c.155dup (p.Ser53fs)	PKP2	Likely pathogenic	12	33049510	33049511	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA235280654
single nucleotide variant	NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter)	TGFB3	Likely pathogenic	14	76425574	76425574	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA390466754
Duplication	NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs)	TGFB3	Likely pathogenic	14	76429691	76429692	C	CTTCCTCTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656426

1
...
53
54
55
56
57
...
80