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_004415.4(DSP):c.2602C>T (p.Gln868Ter)	DSP	Pathogenic	6	7575693	7575693	C	T	criteria provided, single submitter	ClinGen:CA16612029
single nucleotide variant	NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)	DSP	Pathogenic/Likely pathogenic	6	7579760	7579760	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612031
single nucleotide variant	NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter)	DSP	Pathogenic	6	7581245	7581245	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612040
Duplication	NM_004415.4(DSP):c.5745dup (p.Lys1916Ter)	DSP	Pathogenic	6	7583239	7583240	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612041
single nucleotide variant	NM_004415.4(DSP):c.1420-1G>T	DSP	Likely pathogenic	6	7569418	7569418	G	T	criteria provided, single submitter	ClinGen:CA16612070
Deletion	NM_004415.4(DSP):c.1883del (p.Gly628fs)	DSP	Pathogenic	6	7571796	7571796	TG	T	criteria provided, single submitter	ClinGen:CA16612194
Deletion	NC_000012.12:g.(?_32877846)_(32879032_?)del	PKP2	Pathogenic	12	33030780	33031966	na	na	criteria provided, single submitter	-
Duplication	NM_001005242.3(PKP2):c.929_951dup (p.His318fs)	PKP2	Pathogenic	12	33030862	33030863	G	GCGCTCTCCTCCCGCTGGAATCCA	criteria provided, single submitter	ClinGen:CA16613731
Indel	NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs)	PKP2	Pathogenic	12	32974352	32974354	GGA	TTTTGGCGAT	criteria provided, single submitter	ClinGen:CA16613797
Deletion	NM_001005242.3(PKP2):c.2437_2445+41del	PKP2	Likely pathogenic	12	32945537	32945586	TGGCTCTGTTAACTATGACACATTCCTTGTTCATGTTCTTACCTTCTTGTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614117

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