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.1905del (p.Lys635fs)	POMGNT1	Likely pathogenic	1	46655020	46655020	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1895+1G>C	POMGNT1	Pathogenic/Likely pathogenic	1	46655129	46655129	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1604+1G>A	POMGNT1	Likely pathogenic	1	46656391	46656391	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.880-1G>A	POMGNT1	Likely pathogenic	1	46659598	46659598	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1786-1G>A	POMGNT1	Likely pathogenic	1	46655240	46655240	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1649+2T>G	POMGNT1	Likely pathogenic	1	46656143	46656143	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1605-1G>C	POMGNT1	Likely pathogenic	1	46656190	46656190	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1152+2T>C	POMGNT1	Likely pathogenic	1	46658844	46658844	A	G	criteria provided, single submitter	-
Deletion	NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer)	POMGNT1	Likely pathogenic	1	46662643	46662644	CAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_017739.4(POMGNT1):c.1852A>T (p.Lys618Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46655173	46655173	T	A	criteria provided, multiple submitters, no conflicts	-