不整脈原性右室心筋症

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_170707.4(LMNA):c.810+32_1323del	LMNA	Pathogenic	1	156104795	156106167	TGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTG	T	criteria provided, single submitter	-
Indel	NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)	LMNA	Pathogenic	1	156107002	156107003	TC	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12539G>T (p.Gly4180Val)	RYR2	Likely pathogenic	1	237947551	237947551	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met)	RYR2	Pathogenic	1	237982488	237982488	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.735+1G>T	DES	Pathogenic	2	220285069	220285069	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.514C>T (p.Gln172Ter)	DES	Pathogenic	2	220283698	220283698	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	LMNA	Likely pathogenic	1	156084893	156084893	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.6646G>C (p.Asp2216His)	RYR2	Pathogenic	1	237796968	237796968	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.11624T>C (p.Val3875Ala)	RYR2	Likely pathogenic	1	237935378	237935378	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001035.3(RYR2):c.12477G>T (p.Gln4159His)	RYR2	Likely pathogenic	1	237947489	237947489	G	T	criteria provided, single submitter	-