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
Deletion	NM_170707.4(LMNA):c.991_992del (p.Arg331fs)	LMNA	Pathogenic/Likely pathogenic	1	156105745	156105746	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795533
Deletion	NM_170707.4(LMNA):c.1142del (p.Glu381fs)	LMNA	Pathogenic	1	156105897	156105897	GA	G	criteria provided, single submitter	ClinGen:CA658795535
single nucleotide variant	NM_170707.4(LMNA):c.937-1G>A	LMNA	Likely pathogenic	1	156105691	156105691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342819711
single nucleotide variant	NM_170707.4(LMNA):c.1380+2T>G	LMNA	Pathogenic	1	156106229	156106229	T	G	criteria provided, single submitter	ClinGen:CA342822325
single nucleotide variant	NM_020451.3(SELENON):c.921G>A (p.Trp307Ter)	SELENON	Pathogenic	1	26136222	26136222	G	A	criteria provided, single submitter	ClinGen:CA339114664
single nucleotide variant	NM_020451.3(SELENON):c.2T>C (p.Met1Thr)	SELENON	Pathogenic	1	26126723	26126723	T	C	criteria provided, single submitter	ClinGen:CA339105610
Deletion	NM_017739.4(POMGNT1):c.1335del (p.Met446fs)	POMGNT1	Pathogenic	1	46658058	46658058	TG	T	criteria provided, single submitter	ClinGen:CA658795453
Deletion	NM_004369.4(COL6A3):c.6212_6309+28del	COL6A3	Pathogenic	2	238267977	238268801	ATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC	A	criteria provided, single submitter	ClinGen:CA658796209
Deletion	NM_004393.6(DAG1):c.440del (p.Gln147fs)	DAG1	Pathogenic	3	49568384	49568384	CA	C	criteria provided, single submitter	ClinGen:CA658796320
Duplication	NC_000006.11:g.(?_129371043)_(129622037_?)dup	LAMA2	Pathogenic	6	129371043	129622037	na	na	criteria provided, single submitter	-