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
Duplication	NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)	FKRP	Pathogenic	19	47258862	47258863	T	TGGTGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658823
Deletion	NM_001848.3(COL6A1):c.1003-2del	COL6A1	Pathogenic	21	47410685	47410685	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656799
single nucleotide variant	NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)	COL6A2	Pathogenic	21	47535796	47535796	G	T	criteria provided, single submitter	ClinGen:CA410524658
single nucleotide variant	NM_001849.4(COL6A2):c.1000-2A>C	COL6A2	Pathogenic	21	47537312	47537312	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA410527294
single nucleotide variant	NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)	COL6A2	Pathogenic	21	47551978	47551978	C	T	criteria provided, single submitter	ClinGen:CA410548425
single nucleotide variant	NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr)	FKRP	Pathogenic	19	47259807	47259807	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA406496647
Deletion	NM_024301.5(FKRP):c.142del (p.Arg48fs)	FKRP	Pathogenic	19	47258845	47258845	GC	G	criteria provided, single submitter	ClinGen:CA645608195
Deletion	NC_000023.11:g.(?_31609621)_(31836839_?)del	DMD	Pathogenic	X	31627738	31854956	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31679355)_(31875393_?)del	DMD	Pathogenic	X	31697472	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31747728)_(31893510_?)del	DMD	Pathogenic	X	31747728	31893510	na	na	criteria provided, single submitter	-