不整脈原性右室心筋症

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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
Indel	NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT	DSP	Pathogenic	6	7583166	7587903	GAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCAC	AGAGAAGAACAGTCTT	criteria provided, single submitter	-
single nucleotide variant	NM_001005242.3(PKP2):c.1379-1976G>A	PKP2	Likely pathogenic	12	32996115	32996115	C	T	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_32850756)_(32850983_?)del	PKP2	Pathogenic	12	33003690	33003917	na	na	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_75958692)_(75965705_?)del	TGFB3	Likely pathogenic	14	76425035	76432048	na	na	criteria provided, single submitter	-
Deletion	NC_000014.9:g.(?_75958692)_(75971728_?)del	TGFB3	Likely pathogenic	14	76425035	76438071	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002230.4(JUP):c.208+1G>A	JUP	Likely pathogenic	17	39927898	39927898	C	T	criteria provided, single submitter	-
Deletion	NM_001943.5(DSG2):c.523+1_523+2del	DSG2	Likely pathogenic	18	29101207	29101208	CGT	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)	LMNA	Likely pathogenic	1	156104269	156104273	CTGCA	ACTTGAAG	criteria provided, single submitter	-
Deletion	NM_004415.4(DSP):c.3434del (p.Ala1145fs)	DSP	Likely pathogenic	6	7579857	7579857	GC	G	criteria provided, single submitter	-
Duplication	NM_004415.4(DSP):c.4397dup (p.Gln1467fs)	DSP	Pathogenic/Likely pathogenic	6	7580818	7580819	T	TA	criteria provided, multiple submitters, no conflicts	-