不整脈原性右室心筋症

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.3126_3127delinsT (p.Arg1042fs)	DSP	Pathogenic	6	7579549	7579550	AC	T	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)	DSP	Pathogenic/Likely pathogenic	6	7583997	7584000	TAGTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000012.12:g.(?_32824025)_(32824182_?)del	PKP2	Pathogenic	12	32976959	32977116	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_7570417)_(7585898_?)del	DSP	Pathogenic	6	7570650	7586131	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.224-1639_274del	PKP2	Pathogenic/Likely pathogenic	12	33031916	33033605	AAGTGTAGGTTGTAGACATACTCAGGAACACTGCTGGTTCGGTGAAGATTTCCTGCAATCAAGCAAATATTAAAATAACTCAGAATACAAGTAGGCTAATTAATATTTACAGACTGTATAACAATGATGTATTAAACTTTTAAATTTAAGTAATGAAGGCCAAGAACAAGTATTAAACGTACGTTAATGTTTTTAAATGCTAGTTTCACACCACCCTGGGATATGGCAAGTGATCAAAGGTTATCAAAACATTCTCTACAAAAGTTTTTCAGCTGGGTGTGGTGGCGCACGCCTCTTATCCCAGCACTCTGGGAGGCAGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCATCTCTACTAAACATACAAAAATTAGCTGGGCATAGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGGAGACAGAGGTTGCAGTGAGCCAAGATCACACAATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTCAAAAAGAAAGTTTTGGCTGGGCACGGTGGCTTACACCTGTAATCCCAGAACTTTGAGAGGCAGAGGTGGGTGGATCACCCGAGGTCAGGCATTCAAGAGCAGCCTGGCCAACATGGTGAAAGCCCCTCTCTACTAAAACTACAAAAAATTAGCTGTGCGTGGTGGCAGGCACCTGTAATCCCAACTATTCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAAGCTGAGATTGCGCCATTGCACTACAGCCTGAGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAGTTTTCAAAATGAAAGTTGAATTTAAAAAAAGAAAAAGAAGGGAGAGGAAATTCACAAAAATCTAAAAATGTTTGGTTGTTATAGTGCTGAAAAATTTGGGACTCATTGTCTGGTTTAGCTGGTCGAGACTATAAAATTCAGTTTCCCGAGTCACAGAACTCTGTTCCCAAGGCAGGAATTCGGAAGCTTCTTGTAATAAGCAGGTGTAGGCAATAAATATAATGGTGACTCAGCACTACTAGATAAGACAGCTTGTATAAACAACAGGATAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGGTCTCTCCTAAAAATACAAAAATTAGTCGGGGGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCTGTCTCAAAAAAACAAAAACAAAAGCAAGAAAAACAACAGGGTAGATCAGCATGATCAAGGGAAACATGGATCAACTTCAGGCCAATGCTGGGGTTGAGATATTTGGCAACAGGAGAGTTAGGCAGGAAAGGAAATCAACCTCTATGCTCCATCCAAATGGCTGCTTTTGTGGAATCACCTGGCCCCTCTTTTGTTTGGTGGTCTAATAGCCAGCCCACTCTCATGAAAACACAGACAGCAGCCAGCCCTTTGTGCTCAGCTCTGTGAAGCCTACAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.2497C>T (p.Gln833Ter)	DSP	Pathogenic	6	7575588	7575588	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter)	DSP	Pathogenic	6	7584735	7584735	G	T	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32792404)_(32896751_?)del	PKP2	Pathogenic	12	32945338	33049685	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter)	PKP2	Pathogenic	12	33031315	33031315	G	A	criteria provided, single submitter	-
Duplication	NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)	PKP2	Pathogenic	12	32994083	32994084	C	CT	criteria provided, single submitter	-