肥大型心筋症 - MGenReviews

肥大型心筋症

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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_001267550.2(TTN):c.88721del (p.Arg29574fs)	TTN	Likely pathogenic	2	179419353	179419353	AC	A	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.88177del (p.Thr29393fs)	TTN	Likely pathogenic	2	179421704	179421704	GT	G	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.87707dup (p.Thr29237fs)	TTN	Likely pathogenic	2	179422281	179422282	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.87705C>G (p.Tyr29235Ter)	TTN	Likely pathogenic	2	179422376	179422376	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.81618_86068del (p.Val27207fs)	TTN	Likely pathogenic	2	179424791	179429241	TATTCTACAGTATATCCAGTTATCGGGGCCCCACCATCAAACAGCGGCTTAACCCAGGCAATAGTTATAGTTGTCTTGCCTGAGTCCACAATTTTGGGTTTGGATGGAGGAGATGGTAGGAACACTGGATCTTCTGCCCTAATTAAGGGAGAGGTTTCACTTGGAAGACTTAGGCCAGCAGCATTTTCTGCATAAACACGATATTCATATTCACATCCTTCCCGAAGTCCTGTTGATTTCACTCTTAGATCATAAACTGGTTTTTTGTTTACACGCACCCATCTTAGGCTATTTTTCTCTCGCCTTTCAATTATATATCCAGATATTTCACTACCTCCATCACTCTCGGGTCTTGACCAGCAAAGTGTCATAGATTCTTTGGTCACAGAAGTAATTTCCAAAGACGTGGGTGGACTTGGAACTGTAAATGGATCTAGTGCCTTTATAGCTACACTCTCTAGGGGCTCACCAACACCATATTTATTAACACCAGTTACTCTAAATATATATTCATTGCCTTTGAGTAACTTGGTTACTTTACAGGATGTCATCTGTAACTCTCCTTCACATATTGTCCATGCAAGGTGGCTTGTTTCACGTTTTTCTACGATGTAATAGTCGATATCTGCACCACCATCTTCTTGGGGACGTCCCCAGGAAAGAGAGCATTTCTCAGCAGTGAGGCCATTTATTTCAAGTGGTCCTGCTGGTGGACCAGGCTTATCAAGTACTTTGCAATTAACGGCCACAGACCGAGTGCCGGCAACATTCTTCAGTGTTAGTACATATTGCCCAGTGTCTCGTCTTATACAGTCTTTAACTGTTAACAAAGTATGATTGTCTGTTGAGATGATTTCTGTTCTTGCTCTTTCTTCAATTTCTATACCATCCTTGGCCCAGGAAATTACTGGCAGAGGTCGCCCTGCAATGTCTGCATTTATCTTAAGGACCTCTCCAGCTTTGACAACAATAACGTCTCGGAACTTGACATCCATCATAACTCTTGGAGGCTCAACATCATCTTTAACTATAATAGGCCCAGTGGATTCAGATGGCTCACTAACTGAGTCAGCAGCATTCCTTGCAAAAACCCGGAATTCATAACGCTGATCTTCAGTAAGTTCAGTTACTTCAAAGTATGTTTCTTGTATATTAGTATAATTGCACTTCAGCCACCGGCCATCTGGTAGTTCTCTGCGTTCAACAATGTATCCTGTGATCTTAGCTCCACCATCATAATGTGGTTTAGACCATTTAAGTGACACTGATTTTCTTGTGATATTTGTGACTTCAGGTTGTCCAGGAGGGTCACAAGGATCTCTTGCAGGGACTGGTTCACAAGATTTACTGCATTTACCAATTCCAGCAATATTTTCAGCATATACACGATACTCATACATCAGTCCTTCATCAAGGCCGGAGACTTTCATTTGAGTATCAGCAATGAGGATTTTATTTGCTTTTGACCAAAGAATGCTGCTTCTTTCTTTATACTCAAGATGATAGCCAATTACTCGACTTCCTCCATCATTAACTGGCACTTGCCAGGTTACAAGCATGGTAGATTTTGTGGCATGCACAACTTTAGGAGTACCAGGAGGACCTGGGGGACTGAATGGATACTCTGCAACAACAGCTGAAGATTCACTGTAGGAGCTCTTTCCATAGCGGTTTTCTGCACAAACACGGAACTGATACTCACTTCCTGTTGTCAGGCGAACTATTTTAATGGATGTTCTTGCAACTGCTTGTGAAACTATGTGCCATGTTGTAGAGGTGGTTTCTTTCTTTTCAACAATGTAATTGCTAATTTGGCAGCCACCATCATATTCTGGAGGATTCCAAGAAATGGTTATGCTGTCACAACTAACCTCATCAATACGTATAGGACCTGGAGGTCCTGGTCTGTCAAGGACAATTATAGTAATAGGAACTGTTATGGATCCAGCACTGTTTGAAACACATAATTCATAAGTTCCAACATCTTCCTTTGAAGCTTCCTTAATAGATAGTGATGTTACAGTCTTTGAAGAAGAAACATTGACTCTAGTTGTCTCTTTAAGAGTCTGACCATCTTTTCTCCAGTTCACAGTAGCTTGAGGTCTTCCTTTGAATGGCACATCAATCTTAAGTTGTTCTCTAGCCTTTACATTGAAAGTATGGAAAGGAAGCTCAACTGAAGGCTTTATTTCAATATCCCTTGCAATTACTGGCACTCCAAGTTGTCTTGGATCACTTCTTCCCTTTTCGTTAACTGCAGCTACCCTGAAGACATACTCTTCTCCTGCAGTTAAGCCAGATATAGTTGCTTCTAGAGTCTTAACTTGTGTGCAGGTGCTCCACTTTTCACTCCCTTTAGTCTGCATTTCAACCACATAACCAGTAATTTTGCTGCCACCATCACTTTCTGGTTTCTCCCACTTAATTGTAGCTGTATTACGGGTCACATCAACAAGAGTTACTCTTCCAGGTGGGAGGGGTGGTTCAGACACTTTAACGGGTTCTGTTGTTTCAGCTGGCAAACCAATCCCATATTCATTGGAAGCCAAGACTCGGAAGTAGTAAGAACATCCTTCTTGTAGATTTTCAATTCTGAAAGTAGTTTTAGTGCAATTATTTGTAATGGTAGCATAGGCTTTTCTTGTAGTTTCTCGTTTTTCGACAATGTAGTTTGTAATCTTAGCTCCACCATCAATAAGTGGTGGTTCCCAGGACAACGTCACTGAGTCTTTCTTCACTTCTCTTATGGTCAAATTCACAGGGGCACTTGGTGAGTCAAGAACTCTGACGTTAACAAAAGCTGTTTTGGAGCCACTATTATTTTCTAATGTCAGATTATACCGACCACTGTCAAATCTGGTAACATTATCAATCACCAACATTGTAAATGAGCTGGTCACCTCTATCTGAGCCCTGTCAGTGAGAATGCCTTCTGCCTTTTCCCATTTAACTTCGGGTTCTGGTCGACCTTTGATAGTGACAAATAAGCGTAAAGTAGCACTTGCACGCAGAACGACCACCTTTCTGAGATCAGCATCGAGTTCTATTTCTGGTGGCTCTATCCTCTCCTGAGCAACCACTGAGCCAGGTAGAGTTGCAGGTTCACCTACACCTTCAGAATTGATGGCACAAATACGGAAGTTATATTCAGTGTTTTCTTTAAGCTTGGTCACTGTGAACTGCTTTCCTTGTAATCCTGTTGGTGGAGTGCAGGTTGTCCATTCATCCGCAGCAGCTTCTTTGACCTCTACAACATAGCCTTTAACAGGTGCGCCACCATCATAAATTGGCTTACTCCATGCCAGGGAGACAGAAGATCTGGAAGTGTCCGTCACTTTTGGATTGCTTGGGGGACCTGGTGGATACAAGGCATCACACGCACGGTAGAAAACAGATGGCTCACTAGGTTCTCCCACACCAGCTGCATTTTCAGCAGCAACTCTGAATTCATAGGAATGGCCTTCGGTAAGACCAGTTACCCTGAGCCGCAGATCCGTTAATGTTTTCTTGTTGCACTTGGTCCATCTAACGCCTTCCTTATCTCGTTTTTCAAGAATGTAGCCCTCAATTTCGGTACCTCCGTCGTCTACTGGGCGTGCCCATGTTACTACCATAGAATCTTTGGTGATTGCTGAGACTTCAGGTGTTGAGGGAGGACCTGGTGGCTTATAAGGATTACAGGCCGTAACAGGCCCAGATTCCAAGGGCTCTCCAATTCCATATTTATTCACAGCCATGACACGGAAAATGTACTCATTACCAGGAAGAAGTTTAGTAACTTTGTAGTTAAGGGCCTGTACCTCAGTTGAAACCTGGGTCCAAGAGAGTCGGCTTGTCTCCCTCTTTTCAATGATGTAATGTGAAATATTAGCACCACCATCTTGCAAAGGTGGGTTCCATGCCAGGTAACATTTTTCCGCAGTAACTCCAGTAACTTTCAGAGGCCCTTCAGGAGGCCCTGGCCTGTCAAGTACCTTTACAGTGATGGGTATAGACTTTGTACCACCAACATTGCTGAGTTTCAGAATATATTGTCCTCCATCAGTCCGTATACAGTCTTTGACAACAAGAGTTGTTTTCTGAATAGTAGATTTAATTTCCATTCTAGCAGCTGTTTCTTCAAGTTCTTTTCCATCTTTTGACCAAACAACATCAGGTATAGGTTTGCCACGGATGTCGGCTTCAAGAACAAAAGTCTCTCCTGCATGAACAACGATGACATCTTTATATTTTGGATCCAGAGAGGCATTTGGTGCATCAATTTCATCTCTTGCAGTAATGGCACCACTACTATCAGATGGTTCACTAAAGTTTCCAGCTGCATTTCTTGCAATTACTCTAAATTCATATCTTTGGTCTTCTACAAGTCCACTCACTGTAAATTCAGTTTCTAATACGTTGGTAAAGCTGGCTTTCATCCAGCGGCCATCAGGTAGATCTTTCTTTTCTACA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter)	TTN	Pathogenic/Likely pathogenic	2	179424890	179424890	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001267550.2(TTN):c.85860del (p.Glu28620fs)	TTN	Likely pathogenic	2	179424999	179424999	AT	A	criteria provided, single submitter	-
Duplication	NM_001267550.2(TTN):c.85519dup (p.Met28507fs)	TTN	Likely pathogenic	2	179425339	179425340	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)	TTN	Pathogenic	2	179426040	179426040	C	T	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.83830_83836delinsTCACT (p.Arg27944fs)	TTN	Likely pathogenic	2	179427023	179427029	CACTTCT	AGTGA	criteria provided, multiple submitters, no conflicts	-