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.1130G>A (p.Arg377His)	LMNA	Pathogenic	1	156105885	156105885	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016651,UniProtKB:P02545#VAR_016205,OMIM:150330.0017
single nucleotide variant	NM_170707.4(LMNA):c.1824C>T (p.Gly608=)	LMNA	Pathogenic	1	156108404	156108404	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015291,OMIM:150330.0022
single nucleotide variant	NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)	LMNA	Pathogenic/Likely pathogenic	1	156100532	156100532	G	A	criteria provided, multiple submitters, no conflicts	OMIM:150330.0028,ClinGen:CA018140,UniProtKB:P02545#VAR_017660
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	LMNA	Pathogenic	1	156106808	156106808	C	T	criteria provided, single submitter	ClinGen:CA017298,OMIM:150330.0038
single nucleotide variant	NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)	LMNA	Pathogenic/Likely pathogenic	1	156104701	156104701	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018559,UniProtKB:P02545#VAR_063589,OMIM:150330.0048
single nucleotide variant	NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	LMNA	Pathogenic	1	156105827	156105827	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016555,UniProtKB:P02545#VAR_009985,OMIM:150330.0049
single nucleotide variant	NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)	COL6A3	Pathogenic/Likely pathogenic	2	238275794	238275794	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA239569,UniProtKB:P12111#VAR_001910,OMIM:120250.0001
single nucleotide variant	NM_004369.4(COL6A3):c.6930+5G>A	COL6A3	Pathogenic	2	238257251	238257251	C	T	criteria provided, single submitter	OMIM:120250.0002