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.184G>T (p.Gly62Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129371134	129371134	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220744
single nucleotide variant	NM_000426.4(LAMA2):c.2750-1G>C	LAMA2	Pathogenic	6	129612758	129612758	G	C	criteria provided, single submitter	ClinGen:CA220757
single nucleotide variant	NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129618935	129618935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220758
Deletion	NM_000426.4(LAMA2):c.3630del (p.Ile1210fs)	LAMA2	Pathogenic	6	129636694	129636694	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220761
single nucleotide variant	NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	LAMA2	Pathogenic	6	129637234	129637234	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220766
single nucleotide variant	NM_000426.4(LAMA2):c.4523+1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129670530	129670530	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220770
single nucleotide variant	NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129704357	129704357	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220771
Deletion	NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs)	LAMA2	Pathogenic/Likely pathogenic	6	129723612	129723618	ACTCATCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220775
single nucleotide variant	NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)	LAMA2	Pathogenic	6	129748945	129748945	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA220776
Deletion	NM_000426.4(LAMA2):c.6011del (p.Asn2004fs)	LAMA2	Pathogenic	6	129759830	129759830	GA	G	criteria provided, single submitter	ClinGen:CA220779