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.1163G>C (p.Arg388Pro)	LMNA	Likely pathogenic	1	156106010	156106010	G	C	criteria provided, single submitter	ClinGen:CA342820778
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
Duplication	NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)	SYNE1	Pathogenic	6	152527320	152527321	G	GT	criteria provided, single submitter	ClinGen:CA571126479
single nucleotide variant	NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)	SYNE1	Pathogenic	6	152534833	152534833	C	A	criteria provided, single submitter	ClinGen:CA366099339
single nucleotide variant	NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)	SYNE1	Pathogenic	6	152746622	152746622	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366138020
single nucleotide variant	NM_182961.4(SYNE1):c.1933-2A>G	SYNE1	Likely pathogenic	6	152784654	152784654	T	C	criteria provided, single submitter	ClinGen:CA366125136
single nucleotide variant	NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)	SYNE1	Pathogenic	6	152809557	152809557	C	A	criteria provided, single submitter	ClinGen:CA366144222
single nucleotide variant	NM_170707.4(LMNA):c.234G>T (p.Lys78Asn)	LMNA	Likely pathogenic	1	156084943	156084943	G	T	criteria provided, single submitter	ClinGen:CA342808375
single nucleotide variant	NM_001159699.2(FHL1):c.550-2A>G	FHL1	Pathogenic	X	135290612	135290612	A	G	criteria provided, single submitter	ClinGen:CA414608683,OMIM:300163.0018
Deletion	NM_182961.4(SYNE1):c.23492del (p.Glu7831fs)	SYNE1	Pathogenic	6	152497664	152497664	CT	C	criteria provided, single submitter	ClinGen:CA658657631