先天性筋無力症候群

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_014231.5(VAMP1):c.340del (p.Ile114fs)	VAMP1	Pathogenic/Likely pathogenic	12	6574056	6574056	CT	C	criteria provided, multiple submitters, no conflicts	OMIM:185880.0002
Deletion	NC_000012.12:g.(?_6462812)_(6470551_?)del	VAMP1	Pathogenic	12	6571978	6579717	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_014231.5(VAMP1):c.340+2T>G	VAMP1	Pathogenic	12	6574054	6574054	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583055,OMIM:185880.0001
single nucleotide variant	NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)	SNAP25	Pathogenic	20	10273845	10273845	T	A	criteria provided, single submitter	ClinGen:CA10586162,UniProtKB:P60880#VAR_073698,OMIM:600322.0001
single nucleotide variant	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNAP25	Likely pathogenic	20	10265399	10265399	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204648
Deletion	NM_021815.5(SLC5A7):c.123_126del (p.Ala41_Ile42insTer)	SLC5A7	Likely pathogenic	2	108604733	108604736	GCCAT	G	criteria provided, single submitter	ClinGen:CA10588815,OMIM:608761.0005
single nucleotide variant	NM_005984.5(SLC25A1):c.740G>A (p.Arg247Gln)	SLC25A1	Pathogenic	22	19164098	19164098	C	T	criteria provided, single submitter	OMIM:190315.0007
single nucleotide variant	NM_005984.5(SLC25A1):c.302+1G>T	SLC25A1	Pathogenic	22	19165454	19165454	C	A	criteria provided, single submitter	ClinGen:CA410639866
Indel	NM_005984.5(SLC25A1):c.657_665delinsGACCTC (p.Asn219_Ile222delinsLysThrSer)	SLC25A1	Likely pathogenic	22	19164173	19164181	ATCAGAGGG	GAGGTC	criteria provided, single submitter	ClinGen:CA16621035
Deletion	NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs)	SLC25A1	Pathogenic/Likely pathogenic	22	19164633	19164642	CCTTGTTCCCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA130986,OMIM:190315.0006