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_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter)	LAMA2	Pathogenic	6	129637260	129637260	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter)	SYNE1	Pathogenic	6	152589291	152589291	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter)	SYNE1	Likely pathogenic	6	152652400	152652400	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter)	FKTN	Pathogenic/Likely pathogenic	9	108363620	108363620	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter)	FKTN	Pathogenic/Likely pathogenic	9	108370208	108370208	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter)	FKTN	Likely pathogenic	9	108397335	108397335	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.5082G>A (p.Trp1694Ter)	DMD	Pathogenic	X	32382771	32382771	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.4546A>T (p.Lys1516Ter)	DMD	Pathogenic	X	32404555	32404555	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.787G>T (p.Gly263Cys)	COL6A1	Likely pathogenic	21	47407551	47407551	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)	LAMA2	Pathogenic	6	129637213	129637213	C	T	criteria provided, multiple submitters, no conflicts	-