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_013382.7(POMT2):c.1658dup (p.Asn553fs)	POMT2	Pathogenic/Likely pathogenic	14	77746801	77746802	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605121
single nucleotide variant	NM_004369.4(COL6A3):c.7024C>T (p.Arg2342Ter)	COL6A3	Pathogenic	2	238256455	238256455	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605124
Deletion	NM_001848.3(COL6A1):c.928_930del (p.Lys310del)	COL6A1	Pathogenic/Likely pathogenic	21	47409688	47409690	GAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605126
Deletion	NM_001848.3(COL6A1):c.315_349del (p.Met106fs)	COL6A1	Pathogenic	21	47404267	47404301	CGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCA	C	criteria provided, single submitter	ClinGen:CA10605169
Duplication	NM_004006.3(DMD):c.319dup (p.Thr107fs)	DMD	Pathogenic	X	32841449	32841450	G	GT	criteria provided, single submitter	ClinGen:CA10605181
Insertion	NM_004006.3(DMD):c.6393_6394insCA (p.Ile2132fs)	DMD	Pathogenic	X	32235077	32235078	T	TTG	criteria provided, single submitter	ClinGen:CA10605182
Duplication	NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)	COL6A2	Pathogenic/Likely pathogenic	21	47546037	47546038	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605189
single nucleotide variant	NM_001849.4(COL6A2):c.1053+1G>A	COL6A2	Pathogenic	21	47537368	47537368	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605216
single nucleotide variant	NM_004369.4(COL6A3):c.6354+1G>A	COL6A3	Pathogenic/Likely pathogenic	2	238267848	238267848	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605229
single nucleotide variant	NM_004006.3(DMD):c.1594C>T (p.Gln532Ter)	DMD	Pathogenic	X	32613882	32613882	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605246