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.1977_1981del (p.Lys660fs)	DMD	Pathogenic	X	32583830	32583834	CTCTTT	C	criteria provided, single submitter	ClinGen:CA658799668
Deletion	NM_013382.7(POMT2):c.1764_1765del (p.Val589fs)	POMT2	Likely pathogenic	14	77746384	77746385	ACT	A	criteria provided, single submitter	ClinGen:CA658798238
Deletion	NM_001077365.2(POMT1):c.485del (p.Phe162fs)	POMT1	Pathogenic/Likely pathogenic	9	134384351	134384351	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA375306980
Deletion	NM_004006.2(DMD):c.(?_32)_(649_?)del	DMD	Pathogenic	X	32827610	33038317	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.513+2T>G	LMNA	Likely pathogenic	1	156100566	156100566	T	G	criteria provided, single submitter	ClinGen:CA342815749
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540
single nucleotide variant	NM_170707.4(LMNA):c.611T>G (p.Leu204Arg)	LMNA	Likely pathogenic	1	156104291	156104291	T	G	criteria provided, single submitter	ClinGen:CA342817035
single nucleotide variant	NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter)	LMNA	Pathogenic	1	156106974	156106974	G	A	criteria provided, single submitter	ClinGen:CA342823348
single nucleotide variant	NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)	SYNE1	Pathogenic	6	152542106	152542106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366104525
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966