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.961C>T (p.Arg321Ter)	LMNA	Pathogenic	1	156105716	156105716	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018909
single nucleotide variant	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Pathogenic/Likely pathogenic	1	156104600	156104600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018372,UniProtKB:P02545#VAR_039768
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479
single nucleotide variant	NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter)	LMNA	Pathogenic	1	156105818	156105818	C	T	criteria provided, single submitter	ClinGen:CA016527
single nucleotide variant	NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	LMNA	Pathogenic	1	156105836	156105836	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016566,UniProtKB:P02545#VAR_064970
Deletion	NM_170707.4(LMNA):c.1114del (p.Glu372fs)	LMNA	Pathogenic	1	156105868	156105868	TG	T	criteria provided, single submitter	ClinGen:CA016624
single nucleotide variant	NM_170707.4(LMNA):c.1157+1G>A	LMNA	Pathogenic/Likely pathogenic	1	156105913	156105913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016716
single nucleotide variant	NM_170707.4(LMNA):c.1157G>A (p.Arg386Lys)	LMNA	Pathogenic	1	156105912	156105912	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016734,UniProtKB:P02545#VAR_009987
single nucleotide variant	NM_170707.4(LMNA):c.1158-2A>G	LMNA	Likely pathogenic	1	156106003	156106003	A	G	criteria provided, single submitter	ClinGen:CA016749
single nucleotide variant	NM_170707.4(LMNA):c.1163G>A (p.Arg388His)	LMNA	Likely pathogenic	1	156106010	156106010	G	A	criteria provided, single submitter	ClinGen:CA016807,UniProtKB:P02545#VAR_070180