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_000426.4(LAMA2):c.2323-1G>A	LAMA2	Likely pathogenic	6	129591768	129591768	G	A	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.2451-1del	LAMA2	Likely pathogenic	6	129601205	129601205	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129371233	129371233	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs)	LAMA2	Pathogenic/Likely pathogenic	6	129674473	129674474	G	GGCAT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.640-1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129465045	129465045	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.819+1G>A	LAMA2	Likely pathogenic	6	129465226	129465226	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.4717+1G>C	LAMA2	Likely pathogenic	6	129674503	129674503	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.2451-2A>G	LAMA2	Pathogenic/Likely pathogenic	6	129601204	129601204	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)	LAMA2	Pathogenic	6	129621928	129621928	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129649444	129649444	C	T	criteria provided, multiple submitters, no conflicts	-