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.988G>T (p.Glu330Ter)	LMNA	Pathogenic	1	156105743	156105743	G	T	criteria provided, single submitter	ClinGen:CA16609891
Deletion	NM_001159699.2(FHL1):c.108del (p.Gln37fs)	FHL1	Pathogenic	X	135288651	135288651	TG	T	criteria provided, single submitter	ClinGen:CA16616433
single nucleotide variant	NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)	EMD	Pathogenic	X	153608090	153608090	C	A	criteria provided, single submitter	ClinGen:CA16616634
Indel	NM_170707.4(LMNA):c.164_168delinsTCT (p.Glu55fs)	LMNA	Likely pathogenic	1	156084873	156084877	AGAAC	TCT	criteria provided, single submitter	ClinGen:CA16616999
Deletion	NM_170707.4(LMNA):c.835del (p.Glu279fs)	LMNA	Pathogenic	1	156105002	156105002	TG	T	criteria provided, single submitter	ClinGen:CA16617000
single nucleotide variant	NM_170707.4(LMNA):c.1078C>T (p.Gln360Ter)	LMNA	Pathogenic	1	156105833	156105833	C	T	criteria provided, single submitter	ClinGen:CA16617001
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
single nucleotide variant	NM_182961.4(SYNE1):c.17682+1G>A	SYNE1	Likely pathogenic	6	152621775	152621775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618256
Deletion	NM_182961.4(SYNE1):c.13325del (p.Gly4442fs)	SYNE1	Likely pathogenic	6	152652495	152652495	GC	G	criteria provided, single submitter	ClinGen:CA16618258
Deletion	NM_001159699.2(FHL1):c.525del (p.Lys176fs)	FHL1	Likely pathogenic	X	135290095	135290095	GC	G	criteria provided, single submitter	ClinGen:CA16621206