ブルガダ症候群

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
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.(?_32792404)_(32896751_?)del	PKP2	Pathogenic	12	32945338	33049685	na	na	criteria provided, single submitter	-
Duplication	NM_000238.4(KCNH2):c.1129-831_3109dup	KCNH2	Likely pathogenic	7	150644458	150644459	T	TCGCCCCGGGGCCGCCGACCCGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCACCAGGCGGAGGGGGCTGGAGCTGCGGCCTGGGCCCTCATCCTCACTGCTCTCAGGGCTGGAGGGGCCACTGGACGGGCTCTCCCCCCACGGCCCCCCCGGCCGGCCCCGGCTACTCGGCCCTGCCCCCGCCCGGCCCGGCCCCAAGGCCGACACCTCCCCTGGCTGCTCCGTGTCTGTGGGAAACAGAGAATGGGCCTCAGAGAGGGGAGGAGAACAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCGAGAGAGGACTGGGCAGGAAGCCCTGGTTTGTCCCCAGTCGCTTCTTCTGCTATCTTGCACCCACTGTCAAGCCGACCAAGAACTCCCAGGACCCCCTGACTGCCCAAGCACTGGCAATGGTGCTTCAGGGGTTGGCGGATCTCTGGGACTGCGGGGCCTCAGCCCCATCGTTGGCTCCCTGGCCCTCCTTTGTTCTATGTTCTTTCCTCCTCAGTGCTCACAGAGACCCCAGCCCTGTGAAGTCCAAAAAGCCTAGGCTTGCCCTGGAGGGTGGAAGAGGGCTTCCTGGAGGAGGTGACAGCTGCAGGGGCCCTGAAAGATGGGCAGCATCTGGACAGCTGGGGTGTGGAGTGGGCACACTGGAGGAAGGGATGGGAAGGTCTGAGGCCTGGGTAAAGCAGACACGGCCCACCCCGCCTTCCAGCTCCCAGCCTCACCTTGTCCCCGCCCTCCCCCTTCCTCCCCTCCCCCGCCTCACCCTTGTCCGTGCGCCTGCGGAAGGACAACTTGCGCTTGCGTTGCCGACTGAAGCCACCCTCTAACTCCGTACTGCCGGGGGAGCCCGGGATCATGTTGGTCTGGAACCAAAATCAGTATCAGGGCCCTTTCAGTGCTCTCCTGCCCCACCGGGGTCAGGCCCCAAGCTCCCTCCTTAACACAGAAAAAGTAGGGCTGGGCGCCCCAGCTCTGGGAAAACCCTTCCCTGCCCCCAATGTGATTTTGCCCCAGGCAAAGACTGAGTTTGGGACTTTTGTAGGCTGCTCTATGATACCATTTGACAGACAGGGAAACTGAGACAGAGAAGCATCACATTCAATGTCACACAGCAAAGGGGCAGCCACACAGCTGGAAGCAGGAGGATGGGGTCCAGCTCAGGGCAGCCAACTCACATCTCGCAGGTTGAAGGTGATCTCCAGGCTGGACCAGAAGTGGTCGGAGAACTCAGGGTACATGTCCAGCACCTCCAGCAGGTCGTCCCGATGGATCTTGTGTAGGTCACAGTAGGTGAGGGCCCGCACATCCCCGTTCGACTTGCCAGGCCTTGCATACAGGTTCAGAGGCTCCCCAAAGATGTCATTCTTCCCTGGAGGCCATGGAGAGGACAGGGAGCTCAGCCCCGGGGGGCGGCATCCAGGCAGCAGGCACCTTCTCCCGGCATCCCCACCCCGGGCAGAGCATGTCCCCTCAGCTGGGTCGCCTGCCAGCCGGCCCCCAACCCACACAACCGGGGAAGCAATCTGCCAGCCCACCCTCCCTCAGCTCCCAGCAGGCACGACAGTGCCAGAGGGGCCAGGAGCCCAGGGTCTCCCAGCAAATGAGACCCAGCCAGCAGGACTACCCCAAACCCCAGGTCCCAAACACCCTCTTAGCCAATCACTGCACCCTTATAAGCAATGTTCTTCAAACCAAAGATCAGAACACAGTAGTGAATCAAAACCAGCATTTTTTTTTTTTTTTTTTTTTTTTTACTGAAAGAACATACAGTAGTATAGCTTAGCACAGCACAGAACAGAAATGCTAGAATGAACCACATGCAGTAAGGCCCAGTGTTATGTAGTGAAACTTTGATTTTAGTTTTGTGGGGGTGTGTATTTGTGTTTGTACAGAGCTGAGAAACAAAGTCTAAAATGTCCTACCATCAACTATGGTCGAAAGAGCTTGCTATATCTGCCCTGAGGCACACAGGGCCGAGGGAAGGACAGGCAAAGGGGGAGGAAGTCCTCAGTGTCCAGACACACCAACCCACCCACTGTGCACAGGCAGGGTAGAAAGGAAGTGGGGGGAGGGGGCAGGACTCCCTTTGCTTTGGATGTGTCAAGGGGCCAGGCATGAGGCTGCAGGGAACCACATGGCCCTTAGTGAAACCAAATGCCGAGCTTCCAGGCTAGCATTTCTTCCTCTACTGCCCAGGCTAGAGGATCTAGATTTGATCCTACTTTAAGGAAGCAAAAAGTGTCTGTTTGTGGCGGATCCTGAAGGGAAGGAGAATGTGGGAACCCCAGAGTTCAGCAGCCTCACCCCACGTGGGGCTCCTCTCCATGGCCCCGCTTGGAGGGCCTGAGTTTAGGTGAATTAAAGGAGCCCAGTGACCCTGCAGGCAGTCCCAGGTCCACAGCCCCAGTGACTGCATATTCAGAAGGCTCGCACCTCTTGAGGCTGCAGAGGGCATTTCCAGTCCAGTGCCCGCCCCCCACCCCATACCCAGGATGGCCACGACGACGTCGCCCCGCAGGATCTCGATGGAGCCCCGGGAGATGAAGTACAGGGCGGTGAGCAGGTCCCCAGCATGCACCAGTGTGTCCCCTGGCGGTGCATGTGTGGTCTTGAACTTCATGGCCAGGGCCCGAAGGCAGCCCTTGGTGGCCCCTCGGAAGGGTTTGCAGTGCTGCAGCAGTGAGCGGTTCAGGTGCAGGCAGATGTCAGCCTGCAGGCACTCAGGGAAGCCCTTCAGCACCTGGGGGCAGGGTGGGGGCAGCTCAGCACACCCTCCCTTGGGACCCCCCAACCCACACTCTACTCCACCATCCCACCCCTCCATGTCAGAGAAATCTCAACCTCCAGGCCTGGGAGATCTCGGAAGCATCAGGGGGCCCAGTGTCTTGGGAAGGACCTGGGACCCCACTCCAGCTTCACCATGCCTGGCCGAGCACCCTTGGGCTCTAGACCTCCATGTTCTTATTTGTAAGGCATAGAGACCATTCCCGCCCTGGGCTGTCACAAGGATTTAACCCCATCGCCTATGTGACATATACCTCCCACCCCAAAAGGGGAGCTCTCCAGGGAAGGGGTTCCAAGGGCTTCCATTTCCTCATGGGCAAAAAGGGGCAACGTGCCTCCAGGGTCCTTACTACTGACTGTGACCGCCTGAGACTTGTTTGCTGTGCCAAGAGGTTCCCCTCTGCCACCCCACTCTTCCCAGCCTGCCACCCACTGGCCACGCTCTGGTGGCCTCACCGCGTTCATGTCGATGCCGTTGGTGTAGGACCAGGCGTGCTGGAAGTACTCCTCGAGGCGCTGGCGCAGGGGATTGGGGATCTGGTGGAAGCGGATGAACTCCCGCACCCGCAGCATCTGTGTGTGGTAGCGGGCTGTGCCCGAGTACAGCCGCTGGATGATGGCCGACACGTTGCCGAAGATGCTAGCATACATGAGGGCTGGGGGCGTGGGCACGTGGGGCCGTCAGCCTCTGCAGGGACCCCACCCACCCACAGGGACCCTGCTCAGGCCCCGCACCAGGTCAGTGTCTCAGTCTCAGCGTCGACATGCCCACGAGACGCCCTTGTACATCTGCGCTCCAGCACACCCCACCCTTCAGTAGTCCCCGCCCTGGTGACCCAGCCCCCAAACCATGTCACGATGGTGGCCCCTGGAGTCTCTAAGTTCCAGGGCCTCACTCTGGCCCGGCTAGCAGCCTCAGTTTCCTCCAACTTGGGTTCCTCCACCGTGGGCTCTCCCCGCCGCCCGCCCCTGGGCACACTCACAGCCAATGAGCATGACGCAGATGGAGAAGATCTTCTCTGAGTTGGTGTTGGGAGAGACGTTGCCGAAGCCCACACTGGTGAGGCTGCTGAAGGTGAAGTAGAGCGCCGTCACATACTTGTCCTTGATGGAGGGGCCGCCCAGGCCGCTGCTGTTGTAGGGTTTGCCTATCTGGTCGCCCAGGTTGTGCAGCCAGCCGATGCGTGAGTCCATGTGTGGCTGCTCCATGTTGCCGATGGCGTACCAGATGCAGGCTAGCCAGTGCGCGATGAGCGCAAAGGTGCACATGAGCAAGAACAGCACGGCCGCGCCGTACTCTGAGTAGCGATCCAGCTTCCGCGCCACGCGCACCAGCCGCAGCAGCCGCGCAGTCTTCAGCAGCCCGATCAGCTGGGGGACAGGGAAGGGGCACATTCCGTTGATGGGGCAAGGGGGGCAAGGGAGGAGGGGAGGTGCTGCGGCCCTCAGAGCGAGCATCAGAGGTCAGATCCCCAAAGACTTCCTAGACCCTCCTCCTAAGAGGTGAAGCCCACACTGGGCCCAGCACAGGTGTCTCATTAATCTTAGTGCTAGCTTTGGGACAGAGGCAGCCCCCATAGTGTGGATGAGGAAACAGGGGCACTGACAGGTGCAGTGATCACCCTAGGGTGCCTGCCCACTCCCACCAGCTTCTAGGGCACTTTGGTGACGCTACAAAATAATGGCCCCTTGGGATGGACGAATTAGAAAAAAAGGTGTCCTGTGTGGCCCTCTGCAACCTGCGAGGAGCTTGTGTGGAGAGAAGGAGCATAGGTTTGCTGGGGTACCCACCTTGCCTCTGCAGCTGCCTTGCCACCATGTCTCTCTCCCACTGTCTTTCTCTCTTTCTCTCTCTCTCTCTTTTTCTCTGTCCTCCTCGCCACCCCCTCCACCCCACTACCTCCCACCACATTCCTGGCCTCTCCTCTCCCTACACCACCTGCCTCCTTGCTGACCCCACCTCCTCAGAGCCAGAGCCGAAGATGAGCAGGTCGAAGGGGATGGCGGCCACCATGTCGATGAGGAACCAGCCCTTGAAGTAGTGGACGGCGATGCGGCCGGGGTGGCTGACCACCTCCTCGTTGGCATTGACGTAGGTGGTGCGGAAGTTGATGAGGATGTCCACAATGAACATGATGTCCACGATGAGGTCCACCACAGCCAGCGGCTGGCAGGCGTAGCCACACTCGGTAGCAGGCGGGCCTTCTTCCGTCTCCTTCAGCAGGAAGGCAGCCGAGTAGGGTGTGAAGACAGCCGTGTAGATGACCAGCAGCAGGATGAGCCAGTCCCACACGGCCTTGAAGGGGCTGTAATGCAGGATGGTCCAGCGGTGGATGCGCGGTGCCTGCAGCTTGTACTCAGGCAGCACGTCGGCGCCCAGGGACAGGACCTGCACCCGGGGAAGGCGGAGGTGTGGGTGAGGCAGGCCATGGGACCTCGGGGGCAGGAGCGATGACATCTCTGCCGGGGCCAAGCAGAATGAGGAGGAGGCCAAAAAAAGCTTCCATCAGAATGCCCACCCCTCAGCCAAGCGACCACAGCAAATGGCCACCCCCAGGTTTGGGCATCATGGTTCCCAAAATGCCACACAGCACAGGACTGGCTCCAAACAGTTCCAACATTTCCCGGCAGACGTGGATTCAGGCCACTCGGCAGGAACACCCAGTGCTGCTCCCCGCCGGCAATGCAGATGCAGACCTGCCACTGTGACTGCCCTGAGACGCTGGCCCACACACCCAACCACACACGCCATAGTCTCAGACCGGAAAGGGTTCCAAGGACAACAGCTCCCAACCTGGGCAGTGGCCCCAGGAGCCATAGCCCCAATCCACTGACTGGTAGTCACTGCAGTTCTTACCAGCCCCTCTTCATGCCACAGGCCCGAGGACACCAGGCAACCAGGATGGAGAAAGACCAAGACACTCCCACCCTCCACTCGCACACCTCGCTCCCTCAGCCCCCTCTCCACACAGGTCCGGGACAGCCCACAGTCCTCATCCTCCCACCCTCTTACAAAGGGACAAAGAAGACATAGCCCAGCTGGGAGGAGATGGCACCCAACTTATACAGAGGGACGTGCACACAGGGACTGCTCAGCAGTGACACACACAGCCCCTGTACCAGCTCACACTCACACTCTGCCTCCTCCACAGTCATCAGACAGAGGCAGGCTGGCCATCCGGACCCGGTGACAGCAGGCACGTCCCTCTTGCTCCCAAGG	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	-
Deletion	NC_000012.12:g.(?_32802383)_(32802576_?)del	PKP2	Pathogenic	12	32955317	32955510	na	na	criteria provided, single submitter	-
Deletion	NM_001005242.3(PKP2):c.1410del (p.Lys470fs)	PKP2	Pathogenic	12	32994108	32994108	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.4309C>T (p.Pro1437Ser)	SCN5A	Likely pathogenic	3	38598057	38598057	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter)	SCN5A	Pathogenic	3	38663938	38663938	G	T	criteria provided, single submitter	-
Deletion	NM_000238.4(KCNH2):c.2705del (p.Pro902fs)	KCNH2	Pathogenic	7	150644954	150644954	TG	T	criteria provided, multiple submitters, no conflicts	-