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_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	1	156105840	156105840	CT	C	criteria provided, single submitter	ClinGen:CA016573
single nucleotide variant	NM_170707.4(LMNA):c.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
single nucleotide variant	NM_004006.3(DMD):c.1812+1G>A	DMD	Pathogenic/Likely pathogenic	X	32591646	32591646	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273064
Duplication	NM_001077365.2(POMT1):c.1478dup (p.Tyr493Ter)	POMT1	Pathogenic	9	134394335	134394336	T	TA	criteria provided, single submitter	ClinGen:CA295431
single nucleotide variant	NM_013382.7(POMT2):c.1484+1G>T	POMT2	Pathogenic	14	77751823	77751823	C	A	criteria provided, single submitter	ClinGen:CA295440
single nucleotide variant	NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)	FKRP	Likely pathogenic	19	47259176	47259176	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)	COL6A2	Pathogenic/Likely pathogenic	21	47535924	47535924	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA295264
single nucleotide variant	NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)	COL6A2	Pathogenic	21	47535941	47535941	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)	COL6A2	Likely pathogenic	21	47536301	47536301	G	T	criteria provided, single submitter	ClinGen:CA295290
single nucleotide variant	NM_170707.4(LMNA):c.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570