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.116A>G (p.Asn39Ser)	LMNA	Pathogenic	1	156084825	156084825	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016815,UniProtKB:P02545#VAR_063588
single nucleotide variant	NM_170707.4(LMNA):c.11C>G (p.Pro4Arg)	LMNA	Pathogenic	1	156084720	156084720	C	G	criteria provided, single submitter	ClinGen:CA016863
single nucleotide variant	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106141	156106141	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016950
single nucleotide variant	NM_170707.4(LMNA):c.1337A>T (p.Asp446Val)	LMNA	Likely pathogenic	1	156106184	156106184	A	T	criteria provided, single submitter	ClinGen:CA017008,UniProtKB:P02545#VAR_039780
single nucleotide variant	NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp)	LMNA	Pathogenic	1	156106193	156106193	G	A	criteria provided, single submitter	ClinGen:CA017024,UniProtKB:P02545#VAR_064971
single nucleotide variant	NM_170707.4(LMNA):c.1358G>C (p.Arg453Pro)	LMNA	Pathogenic	1	156106205	156106205	G	C	criteria provided, single submitter	ClinGen:CA017039,UniProtKB:P02545#VAR_063592
single nucleotide variant	NM_170707.4(LMNA):c.1364G>C (p.Arg455Pro)	LMNA	Pathogenic	1	156106211	156106211	G	C	criteria provided, single submitter	ClinGen:CA017066,UniProtKB:P02545#VAR_063593
single nucleotide variant	NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp)	LMNA	Pathogenic	1	156106213	156106213	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017074,UniProtKB:P02545#VAR_063594
single nucleotide variant	NM_170707.4(LMNA):c.1368C>A (p.Asn456Lys)	LMNA	Pathogenic	1	156106215	156106215	C	A	criteria provided, single submitter	ClinGen:CA017098,UniProtKB:P02545#VAR_039782
single nucleotide variant	NM_170707.4(LMNA):c.1380+1G>A	LMNA	Pathogenic	1	156106228	156106228	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017128