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.5562+1G>A	LAMA2	Likely pathogenic	6	129722486	129722486	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.5865+2T>G	LAMA2	Likely pathogenic	6	129725106	129725106	T	G	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs)	LAMA2	Pathogenic/Likely pathogenic	6	129781395	129781396	CAT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter)	LAMA2	Likely pathogenic	6	129796539	129796539	A	T	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)	LAMA2	Pathogenic/Likely pathogenic	6	129799874	129799875	C	CAAAG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.6429+1G>C	LAMA2	Likely pathogenic	6	129766967	129766967	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.8076-1G>A	LAMA2	Likely pathogenic	6	129813459	129813459	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.8548-2A>G	LAMA2	Likely pathogenic	6	129826343	129826343	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.8858-1G>A	LAMA2	Likely pathogenic	6	129833507	129833507	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.9211+1G>A	LAMA2	Likely pathogenic	6	129835741	129835741	G	A	criteria provided, single submitter	-