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.1304_1331+10del	DMD	Likely pathogenic	X	32662239	32662276	TAAGGACTTACTTGCTTTGTTTTTCCATGCTAGCTACCC	T	criteria provided, single submitter	ClinGen:CA658658957
single nucleotide variant	NM_004006.3(DMD):c.589G>T (p.Glu197Ter)	DMD	Pathogenic	X	32827670	32827670	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412673882
Deletion	NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)	COL6A3	Pathogenic	2	238244812	238244812	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657257
single nucleotide variant	NM_004369.4(COL6A3):c.6309+3A>G	COL6A3	Pathogenic/Likely pathogenic	2	238268002	238268002	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657258
Deletion	NM_000426.4(LAMA2):c.61_62del (p.Gln21fs)	LAMA2	Pathogenic/Likely pathogenic	6	129204450	129204451	TAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657612
Deletion	NM_000426.4(LAMA2):c.397-35_397del	LAMA2	Likely pathogenic	6	129419281	129419316	GGGAATTCAATGTTATTGTTGTTGTTATACTTCCCTA	G	criteria provided, single submitter	ClinGen:CA658657611
single nucleotide variant	NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129513873	129513873	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA365608189
single nucleotide variant	NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152551729	152551729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366112039,OMIM:608441.0017
single nucleotide variant	NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter)	SYNE1	Pathogenic	6	152576763	152576763	A	T	criteria provided, single submitter	ClinGen:CA366136800
single nucleotide variant	NM_001077365.2(POMT1):c.428-2A>G	POMT1	Likely pathogenic	9	134384296	134384296	A	G	criteria provided, single submitter	ClinGen:CA375306861