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.29C>T (p.Thr10Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084738	156084738	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029
single nucleotide variant	NM_170707.4(LMNA):c.357-1G>T	LMNA	Pathogenic	1	156100407	156100407	G	T	criteria provided, single submitter	ClinGen:CA017975
single nucleotide variant	NM_170707.4(LMNA):c.412G>A (p.Glu138Lys)	LMNA	Pathogenic	1	156100463	156100463	G	A	criteria provided, single submitter	ClinGen:CA018066,UniProtKB:P02545#VAR_070175
single nucleotide variant	NM_170707.4(LMNA):c.419T>C (p.Leu140Pro)	LMNA	Likely pathogenic	1	156100470	156100470	T	C	criteria provided, single submitter	ClinGen:CA018070,UniProtKB:P02545#VAR_039760
single nucleotide variant	NM_170707.4(LMNA):c.427T>C (p.Ser143Pro)	LMNA	Pathogenic/Likely pathogenic	1	156100478	156100478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018081,UniProtKB:P02545#VAR_039761
single nucleotide variant	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LMNA	Pathogenic/Likely pathogenic	1	156100548	156100548	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018166,UniProtKB:P02545#VAR_070176
single nucleotide variant	NM_170707.4(LMNA):c.513G>A (p.Lys171=)	LMNA	Likely pathogenic	1	156100564	156100564	G	A	criteria provided, single submitter	ClinGen:CA018192
single nucleotide variant	NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)	LMNA	Pathogenic	1	156104248	156104248	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018245,UniProtKB:P02545#VAR_039764
single nucleotide variant	NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	LMNA	Pathogenic/Likely pathogenic	1	156104249	156104249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018251,UniProtKB:P02545#VAR_039763
single nucleotide variant	NM_170707.4(LMNA):c.575A>T (p.Asp192Val)	LMNA	Likely pathogenic	1	156104255	156104255	A	T	criteria provided, single submitter	ClinGen:CA018263