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_017739.4(POMGNT1):c.1539+1del	POMGNT1	Likely pathogenic	1	46657769	46657769	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1604+2T>C	POMGNT1	Likely pathogenic	1	46656390	46656390	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1212-1G>C	POMGNT1	Likely pathogenic	1	46658263	46658263	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.458C>G (p.Ser153Ter)	POMGNT1	Pathogenic	1	46661559	46661559	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.879+1G>C	POMGNT1	Likely pathogenic	1	46659945	46659945	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.653-2A>C	POMGNT1	Likely pathogenic	1	46660325	46660325	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter)	LAMA2	Pathogenic	6	129381008	129381008	C	A	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)	LAMA2	Pathogenic/Likely pathogenic	6	129470165	129470166	C	CCT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.1307-1G>A	LAMA2	Likely pathogenic	6	129498850	129498850	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter)	LAMA2	Pathogenic	6	129588272	129588272	C	T	criteria provided, multiple submitters, no conflicts	-