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_001077365.2(POMT1):c.978C>A (p.Tyr326Ter)	POMT1	Pathogenic	9	134386846	134386846	C	A	criteria provided, single submitter	-
Duplication	NM_001077365.2(POMT1):c.1837_1852dup (p.Gly618fs)	POMT1	Pathogenic	9	134397437	134397438	C	CCTGGCTGCGCTGGGTG	criteria provided, single submitter	-
Deletion	NM_013382.7(POMT2):c.673del (p.Trp225fs)	POMT2	Pathogenic	14	77767576	77767576	CA	C	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.948del (p.Cys317fs)	FKRP	Pathogenic	19	47259650	47259650	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	FKRP	Likely pathogenic	19	47260003	47260003	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)	COL6A1	Pathogenic	21	47401822	47401822	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)	COL6A1	Pathogenic	21	47409541	47409541	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)	COL6A1	Pathogenic/Likely pathogenic	21	47409550	47409550	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)	FHL1	Likely pathogenic	X	135290733	135290734	T	TTA	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.10765C>T (p.Gln3589Ter)	DMD	Pathogenic	X	31165424	31165424	G	A	criteria provided, multiple submitters, no conflicts	-