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.17917C>T (p.Gln5973Ter)	SYNE1	Likely pathogenic	6	152614818	152614818	G	A	criteria provided, single submitter	ClinGen:CA16621850
Deletion	NM_182961.4(SYNE1):c.7557del (p.Phe2520fs)	SYNE1	Likely pathogenic	6	152716806	152716806	AG	A	criteria provided, single submitter	ClinGen:CA16621851
single nucleotide variant	NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	LMNA	Likely pathogenic	1	156104299	156104299	C	T	criteria provided, single submitter	ClinGen:CA342817053
single nucleotide variant	NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val)	COL6A3	Likely pathogenic	2	238268765	238268765	C	A	criteria provided, single submitter	ClinGen:CA351216598
single nucleotide variant	NM_004369.4(COL6A3):c.749C>A (p.Ser250Ter)	COL6A3	Likely pathogenic	2	238296788	238296788	G	T	criteria provided, single submitter	ClinGen:CA351224129
single nucleotide variant	NM_013382.7(POMT2):c.462G>A (p.Trp154Ter)	POMT2	Pathogenic	14	77771120	77771120	C	T	criteria provided, single submitter	ClinGen:CA390520842
single nucleotide variant	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	LMNA	Likely pathogenic	1	156085016	156085016	C	T	criteria provided, single submitter	ClinGen:CA342808718
single nucleotide variant	NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	LMNA	Likely pathogenic	1	156105881	156105881	T	C	criteria provided, single submitter	ClinGen:CA342820546
single nucleotide variant	NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238263565	238263565	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351213744
Deletion	NM_004393.6(DAG1):c.310_311del (p.Leu104fs)	DAG1	Likely pathogenic	3	49568253	49568254	CTT	C	criteria provided, single submitter	ClinGen:CA645369337