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_182961.4(SYNE1):c.15897del (p.Met5300fs)	SYNE1	Likely pathogenic	6	152644633	152644633	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042540
Deletion	NM_182961.3(SYNE1):c.22193delG (p.Gly7398Aspfs)	SYNE1	Likely pathogenic	6	152536194	152536194	TC	T	criteria provided, single submitter	ClinGen:CA16043799
single nucleotide variant	NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152560836	152560836	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603269
single nucleotide variant	NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter)	SYNE1	Pathogenic	6	152476029	152476029	C	A	criteria provided, single submitter	ClinGen:CA16604879
single nucleotide variant	NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)	SYNE1	Pathogenic	6	152590313	152590313	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605044
single nucleotide variant	NM_182961.4(SYNE1):c.11176A>T (p.Lys3726Ter)	SYNE1	Likely pathogenic	6	152674475	152674475	T	A	criteria provided, single submitter	ClinGen:CA16605054
single nucleotide variant	NM_182961.4(SYNE1):c.8535T>G (p.Tyr2845Ter)	SYNE1	Likely pathogenic	6	152706926	152706926	A	C	criteria provided, single submitter	ClinGen:CA16605481
single nucleotide variant	NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	EMD	Pathogenic	X	153609132	153609132	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16608835
single nucleotide variant	NM_170707.4(LMNA):c.122G>A (p.Arg41His)	LMNA	Pathogenic	1	156084831	156084831	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609885
single nucleotide variant	NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser)	LMNA	Likely pathogenic	1	156105873	156105873	T	G	criteria provided, single submitter	ClinGen:CA16609888