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.5853del (p.Ala1952fs)	LAMA2	Pathogenic	6	129725091	129725091	GA	G	criteria provided, single submitter	ClinGen:CA658657618
single nucleotide variant	NM_000426.4(LAMA2):c.819+2T>C	LAMA2	Pathogenic	6	129465227	129465227	T	C	criteria provided, single submitter	ClinGen:CA365606255
single nucleotide variant	NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter)	LAMA2	Pathogenic	6	129612845	129612845	C	T	criteria provided, single submitter	ClinGen:CA146895738
single nucleotide variant	NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter)	LAMA2	Pathogenic	6	129637000	129637000	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365613369
single nucleotide variant	NM_000426.4(LAMA2):c.8547+1G>T	LAMA2	Pathogenic	6	129824426	129824426	G	T	criteria provided, single submitter	ClinGen:CA365634512
Deletion	NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)	SYNE1	Pathogenic	6	152770672	152770673	AAC	A	criteria provided, single submitter	ClinGen:CA658657635
Deletion	NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	LAMA2	Pathogenic	6	129470153	129470154	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA451925608
single nucleotide variant	NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter)	LAMA2	Pathogenic	6	129486814	129486814	C	T	criteria provided, single submitter	ClinGen:CA365607367
single nucleotide variant	NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129691052	129691052	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993707
single nucleotide variant	NM_000426.4(LAMA2):c.6268+2T>C	LAMA2	Pathogenic	6	129762145	129762145	T	C	criteria provided, single submitter	ClinGen:CA365629811