筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.957+2T>C	COL6A1	Pathogenic	21	47410200	47410200	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274971
single nucleotide variant	NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)	COL6A2	Likely pathogenic	21	47537797	47537797	G	T	criteria provided, single submitter	ClinGen:CA239829
Insertion	NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs)	LAMA2	Pathogenic	6	129571327	129571328	A	AACATGTTC	criteria provided, single submitter	ClinGen:CA274989
single nucleotide variant	NM_004006.3(DMD):c.1704+1G>A	DMD	Pathogenic	X	32591861	32591861	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275009
single nucleotide variant	NM_004006.3(DMD):c.1912C>T (p.Gln638Ter)	DMD	Pathogenic	X	32583899	32583899	G	A	criteria provided, single submitter	ClinGen:CA275035
single nucleotide variant	NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)	COL6A3	Pathogenic	2	238268774	238268774	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275040,UniProtKB:P12111#VAR_058261
Deletion	NM_001077365.2(POMT1):c.1657del (p.Leu553fs)	POMT1	Pathogenic/Likely pathogenic	9	134395537	134395537	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211186
single nucleotide variant	NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter)	POMT1	Pathogenic	9	134396832	134396832	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA211187
single nucleotide variant	NM_000426.4(LAMA2):c.2749+1G>C	LAMA2	Pathogenic	6	129609204	129609204	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA275053
single nucleotide variant	NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu)	POMT1	Pathogenic/Likely pathogenic	9	134397500	134397500	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278501