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.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.810+1G>A	LMNA	Pathogenic	1	156104767	156104767	G	A	criteria provided, single submitter	ClinGen:CA018696
single nucleotide variant	NM_170707.4(LMNA):c.82C>T (p.Arg28Trp)	LMNA	Pathogenic	1	156084791	156084791	C	T	criteria provided, single submitter	ClinGen:CA018743,UniProtKB:P02545#VAR_039748
single nucleotide variant	NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	LMNA	Pathogenic/Likely pathogenic	1	156105065	156105065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018826
single nucleotide variant	NM_170707.4(LMNA):c.937-11C>G	LMNA	Pathogenic	1	156105681	156105681	C	G	criteria provided, single submitter	ClinGen:CA018858
Deletion	NM_170707.4(LMNA):c.94_96del (p.Lys32del)	LMNA	Pathogenic	1	156084801	156084803	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018871,OMIM:150330.0050
single nucleotide variant	NM_170707.4(LMNA):c.98A>G (p.Glu33Gly)	LMNA	Pathogenic	1	156084807	156084807	A	G	criteria provided, single submitter	ClinGen:CA018931,UniProtKB:P02545#VAR_039751
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
Insertion	NM_000117.3(EMD):c.239_240insT (p.Glu80fs)	EMD	Pathogenic	X	153608353	153608354	A	AT	criteria provided, single submitter	ClinGen:CA220361
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