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
single nucleotide variant	NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	POMGNT1	Pathogenic	1	46660525	46660525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263981
single nucleotide variant	NM_017739.4(POMGNT1):c.879+5G>T	POMGNT1	Likely pathogenic	1	46659941	46659941	C	A	criteria provided, single submitter	ClinGen:CA263991
single nucleotide variant	NM_017739.4(POMGNT1):c.931C>T (p.Arg311Ter)	POMGNT1	Pathogenic	1	46659546	46659546	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA223256
Duplication	NM_017739.4(POMGNT1):c.982dup (p.Val328fs)	POMGNT1	Likely pathogenic	1	46659279	46659280	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA263992
single nucleotide variant	NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)	COL6A3	Likely pathogenic	2	238269781	238269781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA215987
single nucleotide variant	NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)	COL6A2	Pathogenic/Likely pathogenic	21	47535787	47535787	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA215992
copy number loss	GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1	LARGE1	Pathogenic	22	34150132	34182300	na	na	criteria provided, single submitter	dbVar:nssv577848
copy number gain	GRCh38/hg38 Xp21.1(chrX:32662366-32758964)x2	DMD	Pathogenic	X	32680483	32777081	na	na	criteria provided, single submitter	dbVar:nssv579207
single nucleotide variant	NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)	LMNA	Pathogenic/Likely pathogenic	1	156104600	156104600	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018372,UniProtKB:P02545#VAR_039768
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479