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_000117.3(EMD):c.600G>A (p.Trp200Ter)	EMD	Pathogenic/Likely pathogenic	X	153609392	153609392	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258991
Deletion	NM_000117.3(EMD):c.621del (p.Pro208fs)	EMD	Pathogenic	X	153609412	153609412	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373324
Duplication	NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	EMD	Pathogenic/Likely pathogenic	X	153609431	153609432	T	TGGGGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373325
Deletion	NM_000117.3(EMD):c.674_678del (p.Leu225fs)	EMD	Pathogenic	X	153609466	153609470	CTCTGG	C	criteria provided, single submitter	ClinGen:CA645373326
Insertion	NM_000117.3(EMD):c.703_704insA (p.Phe235fs)	EMD	Likely pathogenic	X	153609495	153609496	T	TA	criteria provided, single submitter	ClinGen:CA645373327
single nucleotide variant	NM_000117.3(EMD):c.82+1G>T	EMD	Pathogenic	X	153607927	153607927	G	T	criteria provided, single submitter	ClinGen:CA415257200
Deletion	NM_000117.3(EMD):c.46_82+6del	EMD	Likely pathogenic	X	153607890	153607932	GCTGCGCCGGTACAACATCCCGCACGGGCCTGTAGTAGGTACGC	G	criteria provided, single submitter	ClinGen:CA645372695
single nucleotide variant	NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	EMD	Pathogenic	X	153609143	153609143	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258268
single nucleotide variant	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	EMD	Pathogenic	X	153607856	153607856	C	G	criteria provided, single submitter	ClinGen:CA415256838
single nucleotide variant	NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	EMD	Pathogenic	X	153609276	153609276	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258537