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_001077365.2(POMT1):c.2004-1_2005del	POMT1	Likely pathogenic	9	134398318	134398320	AGGT	A	criteria provided, single submitter	ClinGen:CA16603278
single nucleotide variant	NM_017739.4(POMGNT1):c.314C>G (p.Ser105Ter)	POMGNT1	Likely pathogenic	1	46662443	46662443	G	C	criteria provided, single submitter	ClinGen:CA16603663
single nucleotide variant	NM_182961.4(SYNE1):c.24127G>T (p.Glu8043Ter)	SYNE1	Pathogenic	6	152476029	152476029	C	A	criteria provided, single submitter	ClinGen:CA16604879
single nucleotide variant	NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)	SYNE1	Pathogenic	6	152590313	152590313	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605044
single nucleotide variant	NM_182961.4(SYNE1):c.11176A>T (p.Lys3726Ter)	SYNE1	Likely pathogenic	6	152674475	152674475	T	A	criteria provided, single submitter	ClinGen:CA16605054
single nucleotide variant	NM_000426.4(LAMA2):c.283+1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129371234	129371234	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3992263
single nucleotide variant	NM_182961.4(SYNE1):c.8535T>G (p.Tyr2845Ter)	SYNE1	Likely pathogenic	6	152706926	152706926	A	C	criteria provided, single submitter	ClinGen:CA16605481
single nucleotide variant	NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter)	POMT2	Pathogenic	14	77746387	77746387	G	A	criteria provided, single submitter	ClinGen:CA7285721
single nucleotide variant	NM_024301.5(FKRP):c.264C>A (p.Tyr88Ter)	FKRP	Pathogenic	19	47258971	47258971	C	A	criteria provided, single submitter	ClinGen:CA16607857
single nucleotide variant	NM_001848.3(COL6A1):c.957G>T (p.Lys319Asn)	COL6A1	Pathogenic	21	47410198	47410198	G	T	criteria provided, single submitter	ClinGen:CA16608092