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
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_020451.3(SELENON):c.166C>T (p.Gln56Ter)	SELENON	Pathogenic	1	26126887	26126887	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter)	SELENON	Pathogenic/Likely pathogenic	1	26139271	26139271	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp)	SELENON	Pathogenic/Likely pathogenic	1	26140389	26140389	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	LMNA	Likely pathogenic	1	156084893	156084893	C	T	criteria provided, single submitter	-
Deletion	NC_000002.12:g.(?_237358501)_(237361194_?)del	COL6A3	Pathogenic	2	238267144	238269837	na	na	criteria provided, single submitter	-
Duplication	NC_000006.11:g.(?_129371063)_(129622017_?)dup	LAMA2	Likely pathogenic	6	129371063	129622017	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.4960-2A>G	LAMA2	Likely pathogenic	6	129704265	129704265	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6310-2A>G	COL6A3	Pathogenic/Likely pathogenic	2	238267895	238267895	T	C	criteria provided, multiple submitters, no conflicts	-