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.357-2A>G	LMNA	Pathogenic	1	156100406	156100406	A	G	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_46190463)_(46190794_?)del	POMGNT1	Pathogenic	1	46656135	46656466	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_46656135)_(46656466_?)dup	POMGNT1	Likely pathogenic	1	46656135	46656466	na	na	criteria provided, single submitter	-
Deletion	NM_020451.2(SELENON):c.-64_36del	SELENON	Pathogenic	1	26126650	26126749	CGGCCGCCCCGCCCCCGGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCG	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.811-1G>A	LMNA	Likely pathogenic	1	156104977	156104977	G	A	criteria provided, single submitter	-
Deletion	NM_020451.2(SELENON):c.-55_183del	SELENON	Pathogenic	1	26126666	26126903	GGCCCCGCCCCGCTCTTTCGCTTCCCGGGCCGCCGGCAGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGCGCCGCCGCGCCCGTTCCCTGGCGCTGCTCGGAGCCCTGCTGGCCGCCGCCGCTGCCGCCGCCGTCCGGGTCTGCGCCCGCCACGCCGAGGCCCAGGCGGCCGCGCGGCA	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1	Pathogenic/Likely pathogenic	1	46660515	46660515	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.3038-7G>A	LAMA2	Pathogenic	6	129621874	129621874	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.19260+2T>C	SYNE1	Likely pathogenic	6	152576724	152576724	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.10608+1G>C	SYNE1	Likely pathogenic	6	152679507	152679507	C	G	criteria provided, single submitter	-