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_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)	COL6A3	Pathogenic	2	238268006	238268006	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)	COL6A3	Pathogenic	2	238287345	238287345	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)	DAG1	Pathogenic	3	49548202	49548202	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter)	LAMA2	Pathogenic	6	129486805	129486805	A	T	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs)	LAMA2	Pathogenic	6	129513942	129513982	GCAAGCCCTGCCGCACAGCTACTACTGGAGCGCGCCGGCTCC	G	criteria provided, single submitter	-
Deletion	NM_000426.4(LAMA2):c.2068_2071del (p.Tyr690fs)	LAMA2	Pathogenic	6	129573409	129573412	CACAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter)	LAMA2	Pathogenic	6	129609014	129609014	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter)	LAMA2	Pathogenic	6	129762082	129762082	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000426.4(LAMA2):c.6443del (p.Val2148fs)	LAMA2	Pathogenic	6	129774146	129774146	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129775416	129775416	C	A	criteria provided, multiple submitters, no conflicts	-