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_004006.3(DMD):c.4315A>T (p.Arg1439Ter)	DMD	Pathogenic	X	32408217	32408217	T	A	criteria provided, single submitter	ClinGen:CA275205
Deletion	NM_004006.3(DMD):c.4523del (p.Leu1508fs)	DMD	Pathogenic	X	32404578	32404578	CA	C	criteria provided, single submitter	ClinGen:CA275213
single nucleotide variant	NM_004006.3(DMD):c.4675-2A>G	DMD	Pathogenic	X	32398799	32398799	T	C	criteria provided, single submitter	ClinGen:CA275218
Deletion	NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer)	LAMA2	Pathogenic	6	129714215	129714215	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275230
single nucleotide variant	NM_000426.4(LAMA2):c.5562+5G>C	LAMA2	Pathogenic/Likely pathogenic	6	129722490	129722490	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275231
Duplication	NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer)	LAMA2	Pathogenic	6	129419443	129419444	G	GGAGTGCCTAAC	criteria provided, single submitter	ClinGen:CA275243
single nucleotide variant	NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	FKRP	Pathogenic/Likely pathogenic	19	47259654	47259654	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA245436,UniProtKB:Q9H9S5#VAR_018289
Deletion	NM_004006.3(DMD):c.5697del (p.Lys1899fs)	DMD	Pathogenic	X	32361293	32361293	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275266
single nucleotide variant	NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter)	DMD	Pathogenic	X	32360271	32360271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346882
Deletion	NM_004006.3(DMD):c.6238del (p.Gln2080fs)	DMD	Pathogenic	X	32305698	32305698	TG	T	criteria provided, single submitter	ClinGen:CA275273