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_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer)	LAMA2	Pathogenic/Likely pathogenic	6	129759859	129759859	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA266813
single nucleotide variant	NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter)	LAMA2	Pathogenic	6	129781432	129781432	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220792
Deletion	NM_000426.4(LAMA2):c.7536del (p.Asp2513fs)	LAMA2	Pathogenic	6	129799920	129799920	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220806
Duplication	NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs)	LAMA2	Pathogenic	6	129835627	129835628	T	TCAAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA220819
Duplication	NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)	FKTN	Pathogenic/Likely pathogenic	9	108366764	108366765	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA221466
single nucleotide variant	NM_001848.3(COL6A1):c.805-2A>G	COL6A1	Pathogenic	21	47408996	47408996	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221794
single nucleotide variant	NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	COL6A1	Pathogenic	21	47409531	47409531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221800,UniProtKB:P12109#VAR_058219
single nucleotide variant	NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)	COL6A1	Pathogenic/Likely pathogenic	21	47409540	47409540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221801
single nucleotide variant	NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)	COL6A1	Pathogenic/Likely pathogenic	21	47409559	47409559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA221804
Deletion	NM_001849.4(COL6A2):c.1461del (p.Ser488fs)	COL6A2	Pathogenic	21	47541472	47541472	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA221813