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.1157G>C (p.Arg386Thr)	LMNA	Pathogenic	1	156105912	156105912	G	C	criteria provided, single submitter	ClinGen:CA10587419
Deletion	NM_170707.4(LMNA):c.784del (p.Glu262fs)	LMNA	Pathogenic	1	156104739	156104739	AG	A	criteria provided, single submitter	ClinGen:CA10602762
Deletion	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD	Pathogenic/Likely pathogenic	X	153607904	153607904	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603419
single nucleotide variant	NM_000117.3(EMD):c.103G>T (p.Glu35Ter)	EMD	Pathogenic	X	153608070	153608070	G	T	criteria provided, single submitter	ClinGen:CA10603420
single nucleotide variant	NM_000117.3(EMD):c.3G>A (p.Met1Ile)	EMD	Pathogenic	X	153607847	153607847	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603810
single nucleotide variant	NM_182961.4(SYNE1):c.21934C>T (p.Gln7312Ter)	SYNE1	Pathogenic	6	152540248	152540248	G	A	criteria provided, single submitter	ClinGen:CA10604216
single nucleotide variant	NM_182961.4(SYNE1):c.10443+1G>T	SYNE1	Pathogenic	6	152680449	152680449	C	A	criteria provided, single submitter	ClinGen:CA10604697
single nucleotide variant	NM_182961.4(SYNE1):c.24577C>T (p.Arg8193Ter)	SYNE1	Pathogenic	6	152470677	152470677	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4053145,OMIM:608441.0018
single nucleotide variant	NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)	SYNE1	Pathogenic	6	152702284	152702284	G	A	criteria provided, single submitter	ClinGen:CA10604917
Duplication	NM_182961.4(SYNE1):c.19514dup (p.Tyr6505Ter)	SYNE1	Pathogenic	6	152570353	152570354	G	GT	criteria provided, single submitter	ClinGen:CA10604989