筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN	Pathogenic/Likely pathogenic	9	108366651	108366652	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.16390-2A>G	SYNE1	Pathogenic/Likely pathogenic	6	152639400	152639400	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608441.0001
single nucleotide variant	NM_004006.3(DMD):c.1705-2A>G	DMD	Pathogenic/Likely pathogenic	X	32591756	32591756	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.652+1G>T	POMGNT1	Pathogenic/Likely pathogenic	1	46660515	46660515	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)	DMD	Pathogenic/Likely pathogenic	X	32632551	32632551	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)	DMD	Pathogenic/Likely pathogenic	X	31366742	31366742	C	A	criteria provided, multiple submitters, no conflicts	-
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	-
single nucleotide variant	NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129775416	129775416	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46661506	46661506	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46657847	46657847	G	A	criteria provided, multiple submitters, no conflicts	-