先天性筋無力症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	PREPL	Pathogenic/Likely pathogenic	2	44573442	44573442	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1641666
Deletion	NM_001171613.2(PREPL):c.-31_-28del	PREPL	Pathogenic	2	44573509	44573512	CTTGT	C	criteria provided, single submitter	ClinGen:CA658657029
single nucleotide variant	NM_001171613.2(PREPL):c.1263-1G>C	PREPL	Pathogenic/Likely pathogenic	2	44554068	44554068	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346689817
single nucleotide variant	NM_000079.4(CHRNA1):c.884G>C (p.Gly295Ala)	CHRNA1	Likely pathogenic	2	175614792	175614792	C	G	criteria provided, single submitter	ClinGen:CA349336541
Deletion	NM_001171613.2(PREPL):c.1526del (p.Pro509fs)	PREPL	Pathogenic	2	44550504	44550504	AG	A	criteria provided, single submitter	ClinGen:CA658795720
Duplication	NM_001171613.2(PREPL):c.981dup (p.Tyr328fs)	PREPL	Pathogenic/Likely pathogenic	2	44559702	44559703	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795721
single nucleotide variant	NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)	CHRND	Pathogenic	2	233394798	233394798	T	C	criteria provided, single submitter	ClinGen:CA66952998
single nucleotide variant	NM_001171613.2(PREPL):c.-48-2A>G	PREPL	Likely pathogenic	2	44573531	44573531	T	C	criteria provided, single submitter	ClinGen:CA1641690
single nucleotide variant	NM_001244710.2(GFPT1):c.686-2A>G	GFPT1	Pathogenic	2	69581446	69581446	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA49524691
single nucleotide variant	NM_001244710.2(GFPT1):c.1105+1G>A	GFPT1	Likely pathogenic	2	69573035	69573035	C	T	criteria provided, single submitter	ClinGen:CA347126168