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_004006.3(DMD):c.356del (p.Gln119fs)	DMD	Pathogenic	X	32841413	32841413	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799685
single nucleotide variant	NM_004006.3(DMD):c.323T>C (p.Leu108Pro)	DMD	Likely pathogenic	X	32841446	32841446	A	G	criteria provided, single submitter	ClinGen:CA412674484
Duplication	NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	FHL1	Pathogenic/Likely pathogenic	X	135290723	135290724	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799874
Duplication	NM_000117.3(EMD):c.135dup (p.Arg46fs)	EMD	Pathogenic/Likely pathogenic	X	153608100	153608101	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799911
Deletion	NM_000117.3(EMD):c.581_582del (p.Ser194fs)	EMD	Pathogenic	X	153609373	153609374	TCA	T	criteria provided, single submitter	ClinGen:CA658799916
single nucleotide variant	NM_004006.3(DMD):c.10783C>T (p.Gln3595Ter)	DMD	Pathogenic	X	31165406	31165406	G	A	criteria provided, single submitter	ClinGen:CA412649008
Deletion	NM_004006.3(DMD):c.10224-175_10230del	DMD	Pathogenic	X	31196081	31196262	TAACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCC	T	criteria provided, single submitter	ClinGen:CA658799634
single nucleotide variant	NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)	DMD	Pathogenic	X	31341756	31341756	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412651708
Duplication	NM_004006.3(DMD):c.8683dup (p.Glu2895fs)	DMD	Pathogenic	X	31496476	31496477	T	TC	criteria provided, single submitter	ClinGen:CA658799642
Deletion	NM_004006.3(DMD):c.8096_8112del (p.Glu2699fs)	DMD	Pathogenic	X	31645895	31645911	GCCAGGCAAGAAACTTTT	G	criteria provided, single submitter	ClinGen:CA658799640