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_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152639367	152639367	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277222
Deletion	NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)	SYNE1	Pathogenic	6	152722425	152722425	TC	T	criteria provided, single submitter	ClinGen:CA277323
Indel	NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA	POMT2	Pathogenic	14	77750217	77750221	CTAGG	TCA	criteria provided, single submitter	ClinGen:CA205464
Deletion	NM_013382.7(POMT2):c.678del (p.Trp226fs)	POMT2	Pathogenic	14	77767571	77767571	AC	A	criteria provided, single submitter	ClinGen:CA208301
single nucleotide variant	NM_001848.3(COL6A1):c.1003-2A>G	COL6A1	Pathogenic	21	47410685	47410685	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA208649
single nucleotide variant	NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg)	COL6A2	Likely pathogenic	21	47535959	47535959	G	A	criteria provided, single submitter	ClinGen:CA207251
single nucleotide variant	NM_004006.3(DMD):c.6614+3310G>T	DMD	Likely pathogenic	X	31983146	31983146	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347360
single nucleotide variant	NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter)	POMT1	Pathogenic	9	134385148	134385148	G	A	criteria provided, single submitter	ClinGen:CA278543
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>C	LMNA	Pathogenic	1	156104767	156104767	G	C	criteria provided, single submitter	ClinGen:CA277528
single nucleotide variant	NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter)	LAMA2	Pathogenic	6	129419444	129419444	G	T	criteria provided, single submitter	ClinGen:CA351346,ClinVar:424784