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
Deletion	NM_170707.4(LMNA):c.626del (p.Asn209fs)	LMNA	Likely pathogenic	1	156104305	156104305	GA	G	criteria provided, single submitter	ClinGen:CA018329
single nucleotide variant	NM_170707.4(LMNA):c.656A>C (p.Lys219Thr)	LMNA	Likely pathogenic	1	156104612	156104612	A	C	criteria provided, single submitter	ClinGen:CA018400
single nucleotide variant	NM_170707.4(LMNA):c.694G>C (p.Gly232Arg)	LMNA	Likely pathogenic	1	156104650	156104650	G	C	criteria provided, single submitter	ClinGen:CA018465
single nucleotide variant	NM_170707.4(LMNA):c.73C>T (p.Arg25Cys)	LMNA	Likely pathogenic	1	156084782	156084782	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018538
single nucleotide variant	NM_170707.4(LMNA):c.74G>C (p.Arg25Pro)	LMNA	Likely pathogenic	1	156084783	156084783	G	C	criteria provided, single submitter	ClinGen:CA018579,UniProtKB:P02545#VAR_039747
single nucleotide variant	NM_170707.4(LMNA):c.99G>C (p.Glu33Asp)	LMNA	Likely pathogenic	1	156084808	156084808	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018946,UniProtKB:P02545#VAR_039750
Deletion	NM_000117.3(EMD):c.284_298del (p.Tyr95_Tyr99del)	EMD	Likely pathogenic	X	153608607	153608621	ACTACTATGAAGAGAG	A	criteria provided, single submitter	ClinGen:CA220362
single nucleotide variant	NM_000117.3(EMD):c.83-2A>G	EMD	Likely pathogenic	X	153608048	153608048	A	G	criteria provided, single submitter	ClinGen:CA273634
single nucleotide variant	NM_170707.4(LMNA):c.64T>G (p.Ser22Ala)	LMNA	Likely pathogenic	1	156084773	156084773	T	G	criteria provided, single submitter	ClinGen:CA018394
single nucleotide variant	NM_170707.4(LMNA):c.179G>C (p.Arg60Pro)	LMNA	Likely pathogenic	1	156084888	156084888	G	C	criteria provided, single submitter	ClinGen:CA017735