エメリー・ドレイフス型筋ジストロフィー

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.607G>A (p.Glu203Lys)	LMNA	Pathogenic/Likely pathogenic	1	156104287	156104287	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018291,UniProtKB:P02545#VAR_039767
single nucleotide variant	NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)	LMNA	Pathogenic	1	156104629	156104629	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018429
single nucleotide variant	NM_170707.4(LMNA):c.700C>T (p.Gln234Ter)	LMNA	Pathogenic	1	156104656	156104656	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018478
single nucleotide variant	NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	LMNA	Likely pathogenic	1	156104701	156104701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018552
Deletion	NM_170707.4(LMNA):c.763del (p.Gln255fs)	LMNA	Likely pathogenic	1	156104718	156104718	AC	A	criteria provided, single submitter	ClinGen:CA018586
single nucleotide variant	NM_170707.4(LMNA):c.784G>T (p.Glu262Ter)	LMNA	Likely pathogenic	1	156104740	156104740	G	T	criteria provided, single submitter	ClinGen:CA018633
single nucleotide variant	NM_170707.4(LMNA):c.799T>C (p.Tyr267His)	LMNA	Pathogenic/Likely pathogenic	1	156104755	156104755	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018657
single nucleotide variant	NM_170707.4(LMNA):c.863C>G (p.Ala288Gly)	LMNA	Likely pathogenic	1	156105030	156105030	C	G	criteria provided, single submitter	ClinGen:CA018775
single nucleotide variant	NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)	LMNA	Pathogenic/Likely pathogenic	1	156105704	156105704	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018878,UniProtKB:P02545#VAR_039775
Deletion	NM_170707.4(LMNA):c.958del (p.Leu320fs)	LMNA	Pathogenic	1	156105713	156105713	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018896