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_001849.4(COL6A2):c.1053+2del	COL6A2	Pathogenic	21	47537369	47537369	GT	G	criteria provided, single submitter	ClinGen:CA10606396
Deletion	NM_182961.4(SYNE1):c.2154del (p.Thr719fs)	SYNE1	Likely pathogenic	6	152783969	152783969	TA	T	criteria provided, single submitter	ClinGen:CA10606415
single nucleotide variant	NM_024301.5(FKRP):c.970G>T (p.Glu324Ter)	FKRP	Pathogenic/Likely pathogenic	19	47259677	47259677	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606452
Deletion	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD	Pathogenic	X	153608362	153608366	TTACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10561551,LOVD 3:EMD_000023,OMIM:300384.0010
Deletion	NM_001849.4(COL6A2):c.1770+1del	COL6A2	Pathogenic/Likely pathogenic	21	47544834	47544834	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606489
single nucleotide variant	NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)	COL6A1	Pathogenic/Likely pathogenic	21	47410173	47410173	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606509
single nucleotide variant	NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)	FHL1	Pathogenic/Likely pathogenic	X	135289231	135289231	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606517
single nucleotide variant	NM_013382.7(POMT2):c.958C>T (p.Gln320Ter)	POMT2	Pathogenic	14	77765080	77765080	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7286031
single nucleotide variant	NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)	COL6A3	Pathogenic	2	238268793	238268793	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606535
single nucleotide variant	NM_013382.7(POMT2):c.924-2A>G	POMT2	Pathogenic	14	77765116	77765116	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606539