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
Deletion	NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)	DSG2	Pathogenic/Likely pathogenic	18	29125877	29125877	CA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001943.5(DSG2):c.2257del (p.Ala753fs)	DSG2	Pathogenic/Likely pathogenic	18	29122735	29122735	AG	A	criteria provided, multiple submitters, no conflicts	-
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	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	NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)	DSP	Pathogenic/Likely pathogenic	6	7580458	7580462	AAAATG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter)	DSP	Pathogenic/Likely pathogenic	6	7580818	7580818	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA362686215
single nucleotide variant	NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter)	DSP	Pathogenic/Likely pathogenic	6	7581692	7581692	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA362688224
single nucleotide variant	NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)	DSP	Pathogenic/Likely pathogenic	6	7580795	7580795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA041182
Deletion	NM_170707.4(LMNA):c.991_992del (p.Arg331fs)	LMNA	Pathogenic/Likely pathogenic	1	156105745	156105746	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795533