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.6282+1G>A	COL6A3	Pathogenic	2	238268730	238268730	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222638
single nucleotide variant	NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)	COL6A3	Pathogenic	2	238268006	238268006	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)	COL6A3	Pathogenic	2	238268005	238268005	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6309+1G>A	COL6A3	Pathogenic	2	238268004	238268004	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.6309+1G>T	COL6A3	Pathogenic/Likely pathogenic	2	238268004	238268004	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606112
single nucleotide variant	NM_004369.4(COL6A3):c.6309+3A>G	COL6A3	Pathogenic/Likely pathogenic	2	238268002	238268002	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657258
Deletion	NM_004369.4(COL6A3):c.6212_6309+28del	COL6A3	Pathogenic	2	238267977	238268801	ATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC	A	criteria provided, single submitter	ClinGen:CA658796209
single nucleotide variant	NM_004369.4(COL6A3):c.6310-2A>G	COL6A3	Pathogenic/Likely pathogenic	2	238267895	238267895	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del)	COL6A3	Likely pathogenic	2	238267881	238267883	TCTC	T	criteria provided, single submitter	-
Deletion	NM_004369.4(COL6A3):c.6310-28_6325del	COL6A3	Pathogenic/Likely pathogenic	2	238267878	238267921	ATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796208