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_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)	COL6A3	Pathogenic/Likely pathogenic	2	238269816	238269816	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602841
single nucleotide variant	NM_004369.4(COL6A3):c.6157-2A>C	COL6A3	Pathogenic	2	238269819	238269819	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602842
Deletion	NM_000426.4(LAMA2):c.3215del (p.Cys1072fs)	LAMA2	Pathogenic	6	129634046	129634046	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602987
Deletion	NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs)	LAMA2	Pathogenic	6	129636968	129636990	GGTTTCTCTACATATAATCCTCAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993364
Duplication	NM_001077365.2(POMT1):c.1175+2dup	POMT1	Pathogenic	9	134388719	134388720	G	GT	criteria provided, single submitter	ClinGen:CA10603156
Duplication	NM_001849.4(COL6A2):c.186dup (p.Thr63fs)	COL6A2	Pathogenic	21	47531958	47531959	T	TC	criteria provided, single submitter	ClinGen:CA10603378
Deletion	NM_000117.3(EMD):c.60del (p.Asn20fs)	EMD	Pathogenic/Likely pathogenic	X	153607904	153607904	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603419
single nucleotide variant	NM_000117.3(EMD):c.103G>T (p.Glu35Ter)	EMD	Pathogenic	X	153608070	153608070	G	T	criteria provided, single submitter	ClinGen:CA10603420
Indel	NM_004006.3(DMD):c.10594_10595delinsTTTAAATGTAGGTGTAAGAAAACTTTAAAGAAACTTTAAAGTGGGG (p.Glu3532delinsPheLysCysArgCysLysLysThrLeuLysLysLeuTer)	DMD	Pathogenic	X	31165594	31165595	TC	CCCCACTTTAAAGTTTCTTTAAAGTTTTCTTACACCTACATTTAAA	criteria provided, single submitter	ClinGen:CA10603476
single nucleotide variant	NM_004006.3(DMD):c.1288A>T (p.Arg430Ter)	DMD	Pathogenic	X	32662292	32662292	T	A	criteria provided, single submitter	ClinGen:CA10603477