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
Deletion	NM_170707.4(LMNA):c.586_596del (p.Arg196fs)	LMNA	Pathogenic	1	156104264	156104274	AACAGGCTGCAG	A	criteria provided, single submitter	ClinGen:CA018281
single nucleotide variant	NM_170707.4(LMNA):c.768G>A (p.Val256=)	LMNA	Pathogenic	1	156104724	156104724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018593
Deletion	NM_170707.4(LMNA):c.859del (p.Ala287fs)	LMNA	Pathogenic/Likely pathogenic	1	156105022	156105022	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018752
single nucleotide variant	NM_170707.4(LMNA):c.871G>A (p.Glu291Lys)	LMNA	Pathogenic	1	156105038	156105038	G	A	criteria provided, single submitter	ClinGen:CA018791
Duplication	NM_170707.4(LMNA):c.973dup (p.Asp325fs)	LMNA	Pathogenic	1	156105726	156105727	A	AG	criteria provided, single submitter	ClinGen:CA306282
Deletion	NM_170707.4(LMNA):c.978_979del (p.Leu327fs)	LMNA	Pathogenic	1	156105732	156105733	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018921
single nucleotide variant	NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter)	LMNA	Pathogenic	1	156105812	156105812	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016519
single nucleotide variant	NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter)	LMNA	Pathogenic	1	156106732	156106732	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017193
single nucleotide variant	NM_170707.4(LMNA):c.1560G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106975	156106975	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017446
single nucleotide variant	NM_170707.4(LMNA):c.1562G>T (p.Gly521Val)	LMNA	Likely pathogenic	1	156106977	156106977	G	T	criteria provided, single submitter	ClinGen:CA017452