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_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)	FHL1	Pathogenic	X	135290068	135290068	G	A	criteria provided, single submitter	ClinGen:CA121552,UniProtKB:Q13642#VAR_075356,OMIM:300163.0008
single nucleotide variant	NM_001159699.2(FHL1):c.417C>G (p.His139Gln)	FHL1	Pathogenic	X	135289988	135289988	C	G	criteria provided, single submitter	ClinGen:CA121571,UniProtKB:Q13642#VAR_075354,OMIM:300163.0016
single nucleotide variant	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA	Pathogenic	1	156084725	156084725	C	T	criteria provided, single submitter	ClinGen:CA017675,OMIM:150330.0001
single nucleotide variant	NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Pathogenic/Likely pathogenic	1	156106204	156106204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002
single nucleotide variant	NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	LMNA	Pathogenic	1	156106995	156106995	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003
single nucleotide variant	NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	LMNA	Pathogenic	1	156104265	156104265	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018275,UniProtKB:P02545#VAR_009977,OMIM:150330.0007
single nucleotide variant	NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	LMNA	Pathogenic	1	156104288	156104288	A	G	criteria provided, single submitter	ClinGen:CA018298,UniProtKB:P02545#VAR_009978,OMIM:150330.0008
single nucleotide variant	NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	LMNA	Pathogenic	1	156100449	156100449	G	T	criteria provided, single submitter	ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027
single nucleotide variant	NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)	LMNA	Pathogenic	1	156106775	156106775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011
Deletion	NM_170707.4(LMNA):c.960del (p.Arg321fs)	LMNA	Pathogenic	1	156105714	156105714	CT	C	criteria provided, single submitter	ClinGen:CA018901,OMIM:150330.0013