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.9212-2A>G	LAMA2	Likely pathogenic	6	129837333	129837333	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129419419	129419419	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000426.4(LAMA2):c.1122del (p.Gly376fs)	LAMA2	Pathogenic	6	129475744	129475744	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.2322+1G>C	LAMA2	Pathogenic/Likely pathogenic	6	129588365	129588365	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer)	LAMA2	Pathogenic/Likely pathogenic	6	129634124	129634124	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.4436+1G>C	LAMA2	Likely pathogenic	6	129663613	129663613	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.6429+1G>T	LAMA2	Pathogenic/Likely pathogenic	6	129766967	129766967	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.6993-2A>C	LAMA2	Pathogenic/Likely pathogenic	6	129785433	129785433	A	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer)	LAMA2	Likely pathogenic	6	129813553	129813557	CTCCAG	C	criteria provided, single submitter	-
Deletion	NM_001079802.2(FKTN):c.1099del (p.Val367fs)	FKTN	Pathogenic/Likely pathogenic	9	108382269	108382269	TG	T	criteria provided, multiple submitters, no conflicts	-