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.987-2A>C	POMT1	Likely pathogenic	9	134387426	134387426	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_013382.7(POMT2):c.248+1G>C	POMT2	Pathogenic	14	77786776	77786776	C	G	criteria provided, single submitter	-
Insertion	NM_001079802.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs)	FKTN	Pathogenic	9	108366528	108366529	A	ATGCCTAAATC	criteria provided, single submitter	-
Duplication	NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs)	FKRP	Pathogenic	19	47259782	47259783	T	TGG	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1576-1G>A	COL6A1	Likely pathogenic	21	47418311	47418311	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)	COL6A2	Likely pathogenic	21	47535823	47535823	G	A	criteria provided, single submitter	-
Indel	NM_001849.4(COL6A2):c.955-3_955-1delinsAA	COL6A2	Likely pathogenic	21	47536681	47536683	CAG	AA	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31224679)_(31382270_?)dup	DMD	Pathogenic	X	31224679	31382270	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31496768)_(31875393_?)del	DMD	Pathogenic	X	31514885	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32438221)_(32699313_?)del	DMD	Pathogenic	X	32456338	32717430	na	na	criteria provided, single submitter	-