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_013382.7(POMT2):c.2206del (p.Gln736fs)	POMT2	Likely pathogenic	14	77743766	77743766	TG	T	criteria provided, single submitter	ClinGen:CA7285519
single nucleotide variant	NM_013382.7(POMT2):c.924-2A>C	POMT2	Pathogenic	14	77765116	77765116	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA390519836
single nucleotide variant	NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)	COL6A2	Likely pathogenic	21	47531484	47531484	G	T	criteria provided, single submitter	ClinGen:CA410519570
single nucleotide variant	NM_004006.3(DMD):c.8575G>T (p.Glu2859Ter)	DMD	Pathogenic	X	31497193	31497193	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412654627
single nucleotide variant	NM_004006.3(DMD):c.6317G>A (p.Trp2106Ter)	DMD	Pathogenic	X	32235154	32235154	C	T	criteria provided, single submitter	ClinGen:CA412660744
single nucleotide variant	NM_004006.3(DMD):c.4675-11A>G	DMD	Pathogenic/Likely pathogenic	X	32398808	32398808	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658965
single nucleotide variant	NM_004006.3(DMD):c.531-2A>G	DMD	Pathogenic	X	32827730	32827730	T	C	criteria provided, single submitter	ClinGen:CA412674013
single nucleotide variant	NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	LMNA	Pathogenic/Likely pathogenic	1	156084803	156084803	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342807424
single nucleotide variant	NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)	LMNA	Pathogenic	1	156104272	156104272	C	T	criteria provided, single submitter	ClinGen:CA342816989
single nucleotide variant	NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	LMNA	Pathogenic	1	156106973	156106973	T	C	criteria provided, single submitter	ClinGen:CA342823343