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_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA	Pathogenic	1	156104999	156104999	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA342817513
Deletion	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Pathogenic	1	156105005	156105010	GAGGAAC	G	criteria provided, single submitter	ClinGen:CA645372479
single nucleotide variant	NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe)	LMNA	Likely pathogenic	1	156105872	156105872	A	T	criteria provided, single submitter	ClinGen:CA342820510
single nucleotide variant	NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)	LMNA	Likely pathogenic	1	156106010	156106010	G	C	criteria provided, single submitter	ClinGen:CA342820778
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
Deletion	NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer)	LAMA2	Likely pathogenic	6	129774223	129774223	CG	C	criteria provided, single submitter	ClinGen:CA3994290
Duplication	NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)	SYNE1	Pathogenic	6	152527320	152527321	G	GT	criteria provided, single submitter	ClinGen:CA571126479
single nucleotide variant	NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)	SYNE1	Pathogenic	6	152534833	152534833	C	A	criteria provided, single submitter	ClinGen:CA366099339
single nucleotide variant	NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)	SYNE1	Pathogenic	6	152746622	152746622	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366138020
single nucleotide variant	NM_182961.4(SYNE1):c.1933-2A>G	SYNE1	Likely pathogenic	6	152784654	152784654	T	C	criteria provided, single submitter	ClinGen:CA366125136