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.2749+1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129609204	129609204	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129634114	129634114	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.3736-2A>G	LAMA2	Likely pathogenic	6	129636905	129636905	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.4176+1G>A	LAMA2	Likely pathogenic	6	129641801	129641801	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.4524-2A>T	LAMA2	Likely pathogenic	6	129674307	129674307	A	T	criteria provided, single submitter	OMIM:156225.0001
Deletion	NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs)	LAMA2	Pathogenic	6	129712717	129712720	CAGAA	C	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer)	LAMA2	Pathogenic/Likely pathogenic	6	129714209	129714209	GA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs)	LAMA2	Pathogenic/Likely pathogenic	6	129714275	129714276	G	GA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.6573+1G>A	LAMA2	Likely pathogenic	6	129774277	129774277	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.6573+1G>T	LAMA2	Likely pathogenic	6	129774277	129774277	G	T	criteria provided, single submitter	-