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.1539+1G>T	POMGNT1	Pathogenic	1	46657769	46657769	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263949
single nucleotide variant	NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46655573	46655573	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263951
single nucleotide variant	NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	POMGNT1	Pathogenic/Likely pathogenic	1	46655542	46655542	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA263954
single nucleotide variant	NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His)	POMGNT1	Pathogenic/Likely pathogenic	1	46655211	46655211	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA263958
Deletion	NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	POMGNT1	Pathogenic/Likely pathogenic	1	46655149	46655149	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263962,OMIM:606822.0006
single nucleotide variant	NM_017739.4(POMGNT1):c.1895+1G>A	POMGNT1	Pathogenic/Likely pathogenic	1	46655129	46655129	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA263963,OMIM:606822.0021
single nucleotide variant	NM_017739.4(POMGNT1):c.1895+1G>T	POMGNT1	Pathogenic/Likely pathogenic	1	46655129	46655129	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA263964
Deletion	NM_017739.4(POMGNT1):c.351del (p.Thr118fs)	POMGNT1	Pathogenic	1	46662406	46662406	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA263969
Deletion	NM_017739.4(POMGNT1):c.447del (p.Phe149fs)	POMGNT1	Pathogenic	1	46661570	46661570	CA	C	criteria provided, single submitter	ClinGen:CA263970
Deletion	NM_017739.4(POMGNT1):c.593del (p.Ser198fs)	POMGNT1	Pathogenic	1	46660575	46660575	GC	G	criteria provided, single submitter	ClinGen:CA263974