ブルガダ症候群

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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
Deletion	NM_001005242.3(PKP2):c.224-1639_274del	PKP2	Pathogenic/Likely pathogenic	12	33031916	33033605	AAGTGTAGGTTGTAGACATACTCAGGAACACTGCTGGTTCGGTGAAGATTTCCTGCAATCAAGCAAATATTAAAATAACTCAGAATACAAGTAGGCTAATTAATATTTACAGACTGTATAACAATGATGTATTAAACTTTTAAATTTAAGTAATGAAGGCCAAGAACAAGTATTAAACGTACGTTAATGTTTTTAAATGCTAGTTTCACACCACCCTGGGATATGGCAAGTGATCAAAGGTTATCAAAACATTCTCTACAAAAGTTTTTCAGCTGGGTGTGGTGGCGCACGCCTCTTATCCCAGCACTCTGGGAGGCAGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCATCTCTACTAAACATACAAAAATTAGCTGGGCATAGTGGCGGGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACTCGGGAGACAGAGGTTGCAGTGAGCCAAGATCACACAATTGCACTCCAGCCTGGGCAACAAAAGTGAAACTCTGTCTCAAAAAGAAAGTTTTGGCTGGGCACGGTGGCTTACACCTGTAATCCCAGAACTTTGAGAGGCAGAGGTGGGTGGATCACCCGAGGTCAGGCATTCAAGAGCAGCCTGGCCAACATGGTGAAAGCCCCTCTCTACTAAAACTACAAAAAATTAGCTGTGCGTGGTGGCAGGCACCTGTAATCCCAACTATTCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAAGCTGAGATTGCGCCATTGCACTACAGCCTGAGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAGTTTTCAAAATGAAAGTTGAATTTAAAAAAAGAAAAAGAAGGGAGAGGAAATTCACAAAAATCTAAAAATGTTTGGTTGTTATAGTGCTGAAAAATTTGGGACTCATTGTCTGGTTTAGCTGGTCGAGACTATAAAATTCAGTTTCCCGAGTCACAGAACTCTGTTCCCAAGGCAGGAATTCGGAAGCTTCTTGTAATAAGCAGGTGTAGGCAATAAATATAATGGTGACTCAGCACTACTAGATAAGACAGCTTGTATAAACAACAGGATAGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCGGTCTCTCCTAAAAATACAAAAATTAGTCGGGGGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATAGCGCCACTGCACTCCAGCCAGGGCGACAGAGCAAGACTCCTGTCTCAAAAAAACAAAAACAAAAGCAAGAAAAACAACAGGGTAGATCAGCATGATCAAGGGAAACATGGATCAACTTCAGGCCAATGCTGGGGTTGAGATATTTGGCAACAGGAGAGTTAGGCAGGAAAGGAAATCAACCTCTATGCTCCATCCAAATGGCTGCTTTTGTGGAATCACCTGGCCCCTCTTTTGTTTGGTGGTCTAATAGCCAGCCCACTCTCATGAAAACACAGACAGCAGCCAGCCCTTTGTGCTCAGCTCTGTGAAGCCTACAG	A	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	-
single nucleotide variant	NM_001005242.3(PKP2):c.1034+1G>C	PKP2	Likely pathogenic	12	33030779	33030779	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384361546
Deletion	NM_001005242.3(PKP2):c.951del (p.His318fs)	PKP2	Pathogenic	12	33030863	33030863	GC	G	criteria provided, single submitter	ClinGen:CA658797865
Deletion	NM_001005242.3(PKP2):c.986_992del (p.Ser329fs)	PKP2	Pathogenic/Likely pathogenic	12	33030822	33030828	ATTCCCAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797862
Deletion	NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)	PKP2	Pathogenic	12	33031913	33031917	ACCAAG	A	criteria provided, single submitter	ClinGen:CA658797870
Duplication	NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter)	PKP2	Likely pathogenic	12	32975436	32975437	C	CAATACTTTTGTTGTTGTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797867
single nucleotide variant	NM_000719.7(CACNA1C):c.4087G>C (p.Val1363Leu)	CACNA1C	Likely pathogenic	12	2763013	2763013	G	C	criteria provided, single submitter	ClinGen:CA383373945
single nucleotide variant	NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)	CACNA1C	Likely pathogenic	12	2675688	2675688	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA383368599
Duplication	NM_001005242.3(PKP2):c.795_811dup (p.Val271fs)	PKP2	Pathogenic	12	33031002	33031003	A	ACCTGCCCGACAGTGAGC	criteria provided, single submitter	ClinGen:CA658797866