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
Insertion	NM_170707.4(LMNA):c.886_887insA (p.Arg296fs)	LMNA	Pathogenic	1	156105053	156105054	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA275309
Deletion	NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)	SYNE1	Pathogenic	6	152615125	152615129	GCAAAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275455,OMIM:608441.0004
single nucleotide variant	NM_170707.4(LMNA):c.3G>T (p.Met1Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084712	156084712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018051
single nucleotide variant	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA	Likely pathogenic	1	156084773	156084773	T	G	criteria provided, single submitter	ClinGen:CA018394
single nucleotide variant	NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	LMNA	Likely pathogenic	1	156084888	156084888	G	C	criteria provided, single submitter	ClinGen:CA017735
Deletion	NM_170707.4(LMNA):c.329del (p.Arg110fs)	LMNA	Likely pathogenic	1	156085038	156085038	CG	C	criteria provided, single submitter	ClinGen:CA017885
Duplication	NM_170707.4(LMNA):c.339dup (p.Lys114Ter)	LMNA	Likely pathogenic	1	156085045	156085046	G	GT	criteria provided, single submitter	ClinGen:CA306281
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>A	LMNA	Pathogenic	1	156085066	156085066	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017954
Indel	NM_170707.4(LMNA):c.381_383delinsTGGTCACCTGAGAG (p.Ile128fs)	LMNA	Pathogenic	1	156100432	156100434	GAT	TGGTCACCTGAGAG	criteria provided, single submitter	ClinGen:CA018019
Deletion	NM_170707.4(LMNA):c.522del (p.Ala175fs)	LMNA	Pathogenic	1	156104202	156104202	CA	C	criteria provided, single submitter	ClinGen:CA018211