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_001848.3(COL6A1):c.428+1G>A	COL6A1	Pathogenic	21	47404384	47404384	G	A	criteria provided, single submitter	OMIM:120220.0008
single nucleotide variant	NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)	COL6A1	Pathogenic	21	47409043	47409043	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA127115,UniProtKB:P12109#VAR_058218,OMIM:120220.0012
single nucleotide variant	NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)	COL6A1	Pathogenic	21	47409531	47409531	G	C	criteria provided, single submitter	ClinGen:CA127117,UniProtKB:P12109#VAR_058219,OMIM:120220.0013
single nucleotide variant	NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)	COL6A1	Pathogenic	21	47409034	47409034	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257743,UniProtKB:P12109#VAR_058217,OMIM:120220.0014
single nucleotide variant	NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)	COL6A2	Pathogenic	21	47537830	47537830	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA128530,OMIM:120240.0018
single nucleotide variant	NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)	COL6A2	Pathogenic/Likely pathogenic	21	47552017	47552017	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA128533,OMIM:120240.0019
single nucleotide variant	NM_004006.3(DMD):c.9G>A (p.Trp3Ter)	DMD	Pathogenic	X	33229421	33229421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA259713,OMIM:300377.0086
single nucleotide variant	NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105758	156105758	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016426,OMIM:150330.0058
single nucleotide variant	NM_170707.4(LMNA):c.1412G>A (p.Arg471His)	LMNA	Pathogenic/Likely pathogenic	1	156106743	156106743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017220,UniProtKB:P02545#VAR_070182
Duplication	NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)	LAMA2	Pathogenic	6	129571327	129571328	A	AACGTGTTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA342966