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_004006.3(DMD):c.5026-2A>G	DMD	Pathogenic/Likely pathogenic	X	32382829	32382829	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3742C>T (p.Gln1248Ter)	DMD	Pathogenic	X	32466617	32466617	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3604-1G>C	DMD	Pathogenic	X	32466756	32466756	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1006G>T (p.Glu336Ter)	DMD	Pathogenic	X	32663224	32663224	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.918T>A (p.Tyr306Ter)	DMD	Pathogenic	X	32716029	32716029	A	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.650-1827_771del	DMD	Pathogenic	X	32717289	32719237	GTGGCCTTGGCAACATTTCCACTTCCTGGATGGCTTCAATGCTCACTTGTTGAGGCAAAACTTGGAAGAGTGATGTGATGTACATTAAGATGGACTTCTTATCTGGATAGGTGGTATCAACATCTGTAAGCACATTAACACTACACATCAATTTTTGGTTTCTATATTTGAGACTCTAAAAGGATAATGAACAAATCAAAGTTAAAGGAAGACGATAGATTAATGAACAGTGAATTGTCCATGAATGTCCTCCAGAGACTAATTAGAACATGAGAATGAGGCCTAAAATGTCTTTCCAATTTGGCAGACCAATGAGATGAGCAGTAAAGTTAATTTATTTTCCTTGTTCATATAAAAACTTCATTCCATATTACTTTTTCCTAAGTCAAATTGCCAAACTAGCCCATCTAACAGAGTAGCTTTCATTAGATAAGAAACAAAAATAAAAGATTACATTTTCCCTCCAATGGAAAGTTATATTAACATGTCAATTCAAATGGTGCACTGGTAATTAAACAAATACACAAAATGGTTTACCGCTTTGGTTCTCAGTAAAGAAACCTGATACCTTTTAACTGAATGTTGCTGATATTAAAGTATGCAGAGAGCTAAATAAGTCTCTGCTGAAATGAGTCATGTATCCACAATATAAATTAAACAGAAAAATACCATATAATGATTTTTACTATTCCGTGTATGTTAAAAATATTTGTTTACATTGTGGTGCATGGGATAAAGTAGAATATCACTTTCCTTCTCAGACATTAGAGACAAATGTAAAAGTCCCGCACATTAAGTTGATCTGACTTCATATCCTTTGCCACATCCAGAAAGTGAATGAAACGCAGCATTTAAAGTCAATAATACTTTGTAATAACACATATAAAGTGGCAGCTCCTTCAAAAGATTCATTTGCTACTTGGCATTAAAATTTACTTACTGCACTCATTCCAGTGAACCAAGATGTAAAGTAATCCTTTATGTGAAGTATGTCATTAGTACTAGAAATGTTAACACATAAGTTCTGACTATGAAATGCTAGCATTTCATTGTCATCCTTTTTCATCCTTTAAAAAGAAGGAAATTTTGTCATTGAGACAGCATGTGTAAATCTGGAGGATATTAAGTGAAATAAGCCAGGCACAGAAAGATAAGTACCACATGATCTCACTAACACATGGAATCTAAAAAGTTGAATTCATAGAAGTAGAGAGTAGAATGGTGTTTACCAGGGGCTGTGGGGCAGGGGTTGGGAAGATGTTGGTCAAAGGACACAAAATTTCAGTTAGATAGGAAAAATAAGTTCAGGAGATCTATTGTACAACCTAGTTTATAACAATGTATTGTATTCCTAAAAATTGCTGCGAGAGTAGATATTAAGTATACTCACCATGAAACATGCTAAGCATATGAAGTAAAACATGTATTAATTAGTTCAATGTAGCCATTCCAGAACGTATACATATTTCAAAACATCGTGTTGTACATGATAAATGTATGCAATTTTAGTTTTTTAATCATTAATGAATATAAAAATCAAAGATAAAAGATAAACATAAATCCTGGCAGGAGGTCAAGGTAATGTGGCAATGTATTTTCCTTGCCATACAATTTATCTTAGCTTAACTACTATTAAGATATCTGTATTCAGTATGTATATTCTGATCAGGTGTTCTGATTATAAGTGAAAAAGCCAAGAGTAAAGTCTCAAGTCCGTTAGCACAAAAGCAGGTTGAACAAGTGACTTCATCAATTCTTTTGCAAGTATCAGAACCATGATTAATCAGAACAGCTATTTTTAAAGTATTTTTAAAAAGAGTTACAAGAGACGAAAAAATTAATGTTCCTTGGTCTACTTCTATCCGTAGAACAATACAGTGCTTCTCAATTCTTAATGTACATATGAATCACCTGGGGATCTTTTAAAACTACAGAATCTGATTCAATAGA	G	criteria provided, single submitter	-
Deletion	NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)	COL6A1	Likely pathogenic	21	47409002	47409004	GAAC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)	LAMA2	Pathogenic	6	129381036	129381036	C	T	criteria provided, single submitter	OMIM:156225.0018
Deletion	NM_182961.2(SYNE1):c.24979del	SYNE1	Pathogenic	6	152464898	152464898	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter)	SYNE1	Pathogenic	6	152651608	152651608	C	A	criteria provided, single submitter	-