筋ジストロフィー

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_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA	Pathogenic	1	156084831	156084831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609885
single nucleotide variant	NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	LMNA	Likely pathogenic	1	156105873	156105873	T	G	criteria provided, single submitter	ClinGen:CA16609888
single nucleotide variant	NM_170707.4(LMNA):c.988G>T (p.Glu330Ter)	LMNA	Pathogenic	1	156105743	156105743	G	T	criteria provided, single submitter	ClinGen:CA16609891
Deletion	NM_024301.5(FKRP):c.-39-2934_564del	FKRP	Pathogenic	19	47255735	47259271	TGCCTGGCATGTTGTAGGAGTTCAACAAATAGATGTTGAAGGATTGAAGGAAGGAAGAATCAATCTAAGGTCCAGAAGGCAATTCCAGGATTCTAAAGATTAGAAAGGACATGGTGACTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGACGGAAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGACAATATAGTGGGAGCCAGTCTCCACAAAAATGTGTTTGAAAAATTAGCCAGGCACAGTATTGCATGCCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGGATGGCTTGAACACAGGAATTCGAGGCTGCAGTGAGCCGTGATTGCACCACTGCACTCAAGCTTGGGCAGCAGAGCAAGACGCTGTCCGTTTAAAAAATATATATATTTTGGCTGGGTGTGGTGGCTCACTCCTGTAATCCCAACATTTCTGGAGGCCAAGGCAGGCAGATCATGAGGTCAAGGGATTGAGACCATCCTGCCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCGCTTGAACCCTGGAGGCGGTGGTTGCAGTGAGCCAGTCGCACCACCGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAATTGTTTTTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATCCCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACGCGGGAGGCAGAGGTTGCAGTGAGATGAGATAGCTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAGAAAAGAAAAGAAATAAGAGCAGTTTGAGAAAATGTTCAGGGTGACTTAAACATACAGGTTGGGGAAAGCATGGCAAGAGATGAGGGTGGAATGGGGGGCAGACAAGGGGAATGTCAGAAGCAGCTTCCACTTTCTCCCCTGGGCACTGGGAGCCATGGCAAGTTCAGAGCAGGGGAAGGAGAGGTCCAACTTGTGCTTTAGGAAGACTCCTCTGGCTATCACGGGGAGAGGAATTGCCAGGAGACCAGGGGGAGGTTGGATGGGAATGTGGGTGGACCTGGTTGAGGAGGGAGCTGTGGAAATGGGGAGGAGGGGACAGAGGATTTAGGACATAGGGAGGTTAGTTGGATGCCCCCTCTCTCTAGGAAGGGCAGAAACCTACAAAAAGCCTTCATGGGGAAATTATTTGATCATCTGCTTGGAACCCAGAGCTATACCACCTGTGCTGGAGACCGGCCAGCCAAATCTTCAGTCTCGGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCCCCATTCCCCCCTGCCTGCAACCCCTGGCACCCGTCATTCTACTTTATGTTTCTATTAGTTTGACTCACTCTGTTTAAAAAAAAAAAAAAAAATTCTGAGGACACCCAGAGTTGGTGCATGGCCCAGACTGGGAGGTCAGGGAGTGCTTCCTGGAGAAGGGGAAGTCAAAGCTGAAACCAAATAGGGAAAAGAAAGGGAATTGAGAAAGAGCTGTAGAAAGGGGCAAGGCTGAGGGTGGCAGAAGGGGGTGGTTCTGACAATCAGCTGCTGCCTTCCCTTTCGTCCCCCTCCCCCAGGATGCCCCGGAGGCCCAGCTAGCCCCAGACTTCGGCCCCATGCGGCTCACCCGCTGCCAGGCTGCCCTGGCGGCCGCCATCACCCTCAACCTTCTGGTCCTCTTCTATGTCTCGTGGCTGCAGCACCAGCCTAGGAATTCCCGGGCCCGGGGGCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCCTGGTGCGGGAGTTCGAGGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCCTGCAGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACGCTCCCCTACCCGCCCCTGGCCCTGCCCCGCATCCCCAACGTGCGTCTGGCGCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGCGCCCGGAGACCTACGTGGCCACCGAGTTTGTGGCCCTAGTACCTGATGGGGCGCGGGCTGAGGCACCTGGCCTGCTGGAGCGCATGGTGGAGGCGCTCCGCGCAGGAAGCGCACGTCTGGTGGCCGCCCCGGTTGCCACGGCCAACCCTGCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCCCCCGCCGCG	T	criteria provided, single submitter	ClinGen:CA16616280
single nucleotide variant	NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter)	FKRP	Pathogenic	19	47259790	47259790	C	A	criteria provided, single submitter	ClinGen:CA16616286
Deletion	NC_000023.11:g.(?_31323598)_(31479103_?)del	DMD	Pathogenic	X	31341715	31497220	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31444481)_(31496944_?)del	DMD	Pathogenic	X	31462598	31515061	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31657990)_(31836819_?)del	DMD	Pathogenic	X	31676107	31854936	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31773960)_(31774192_?)del	DMD	Pathogenic	X	31792077	31792309	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31819975)_(31836819_?)del	DMD	Pathogenic	X	31838092	31854936	na	na	criteria provided, single submitter	-