筋原線維性ミオパチー

小児・神経疾患

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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
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	-
Insertion	NM_001267550.2(TTN):c.82684_82685insSVAelement	TTN	Likely pathogenic	2	179428174	179428175	na	na	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.82226del (p.Lys27409fs)	TTN	Likely pathogenic	2	179428633	179428633	CT	C	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.81718del (p.Arg27240fs)	TTN	Likely pathogenic	2	179429141	179429141	CT	C	criteria provided, single submitter	-