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
Duplication	NM_024301.5(FKRP):c.558dup (p.Ala187fs)	FKRP	Likely pathogenic	19	47259260	47259261	G	GC	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.859_869del (p.Phe287fs)	FKRP	Likely pathogenic	19	47259566	47259576	GTTCGGCTGCAA	G	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.345_349del (p.Arg116fs)	FKRP	Likely pathogenic	19	47259051	47259055	TCGCGC	T	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.464del (p.Leu155fs)	FKRP	Likely pathogenic	19	47259171	47259171	CT	C	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.686del (p.Arg229fs)	FKRP	Pathogenic/Likely pathogenic	19	47259393	47259393	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024301.5(FKRP):c.688_722del (p.Gly230fs)	FKRP	Likely pathogenic	19	47259388	47259422	CCCTTCGCGGCTGGGCGGTGCAGCTGCTGGACTTGA	C	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.931G>T (p.Glu311Ter)	FKRP	Likely pathogenic	19	47259638	47259638	G	T	criteria provided, single submitter	-
Duplication	NM_024301.5(FKRP):c.1141dup (p.Ala381fs)	FKRP	Pathogenic/Likely pathogenic	19	47259842	47259843	C	CG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024301.5(FKRP):c.1475del (p.Thr492fs)	FKRP	Likely pathogenic	19	47260182	47260182	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-