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_001079802.2(FKTN):c.770del (p.Ala257fs)	FKTN	Likely pathogenic	9	108370222	108370222	GC	G	criteria provided, single submitter	ClinGen:CA16041293
single nucleotide variant	NM_001079802.2(FKTN):c.780+1G>A	FKTN	Likely pathogenic	9	108370233	108370233	G	A	criteria provided, single submitter	ClinGen:CA16041294
Deletion	NM_001079802.2(FKTN):c.1106del (p.Phe369fs)	FKTN	Pathogenic/Likely pathogenic	9	108382270	108382270	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA5170569
Deletion	NM_020451.3(SELENON):c.-11_81del (p.Met1fs)	SELENON	Pathogenic	1	26126703	26126794	AGCCGCCGCCAGCCGCAGCCATGGGCCGGGCCCGGCCGGGCCAACGCGGGCCGCCCAGCCCCGGCCCCGCCGCGCAGCCTCCCGCGCCACCGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042327,OMIM:606210.0009
single nucleotide variant	NM_020451.3(SELENON):c.1359G>C (p.Trp453Cys)	SELENON	Likely pathogenic	1	26139255	26139255	G	C	criteria provided, single submitter	ClinGen:CA16042386
Deletion	NM_182961.4(SYNE1):c.15897del (p.Met5300fs)	SYNE1	Likely pathogenic	6	152644633	152644633	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042540
single nucleotide variant	NM_000426.4(LAMA2):c.3555+1G>A	LAMA2	Likely pathogenic	6	129635944	129635944	G	A	criteria provided, single submitter	ClinGen:CA16042627
single nucleotide variant	NM_000426.4(LAMA2):c.8245-2A>G	LAMA2	Pathogenic/Likely pathogenic	6	129823802	129823802	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042658
single nucleotide variant	NM_001848.3(COL6A1):c.1132G>C (p.Ala378Pro)	COL6A1	Likely pathogenic	21	47411936	47411936	G	C	criteria provided, single submitter	ClinGen:CA16043157
single nucleotide variant	NM_004006.3(DMD):c.1602+1G>A	DMD	Pathogenic	X	32613873	32613873	C	T	criteria provided, single submitter	ClinGen:CA16043238