神経線維腫症II型

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_000268.4(NF2):c.1447-2del	NF2	Pathogenic	22	30074183	30074183	CA	C	criteria provided, single submitter	-
Deletion	NM_000268.4(NF2):c.563_564del (p.Ile188fs)	NF2	Pathogenic	22	30051629	30051630	ATT	A	criteria provided, single submitter	ClinGen:CA645601020
Deletion	NM_000268.4(NF2):c.970del (p.Gln324fs)	NF2	Pathogenic	22	30064404	30064404	GC	G	criteria provided, single submitter	ClinGen:CA658799533
single nucleotide variant	NM_000268.4(NF2):c.798C>G (p.Tyr266Ter)	NF2	Pathogenic	22	30057316	30057316	C	G	criteria provided, single submitter	ClinGen:CA411144163
Deletion	NC_000022.11:g.(?_29668327)_(29678329_?)del	NF2	Pathogenic	22	30064316	30074318	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000268.4(NF2):c.180G>A (p.Trp60Ter)	NF2	Pathogenic	22	30032805	30032805	G	A	criteria provided, single submitter	ClinGen:CA411152548
single nucleotide variant	NM_000268.4(NF2):c.1737+1G>T	NF2	Pathogenic	22	30077591	30077591	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411150555
Deletion	NM_000268.4(NF2):c.273del (p.Val92fs)	NF2	Pathogenic	22	30035111	30035111	CA	C	criteria provided, single submitter	ClinGen:CA658656825
single nucleotide variant	NM_000268.4(NF2):c.586C>T (p.Arg196Ter)	NF2	Pathogenic	22	30051652	30051652	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142679
Insertion	NM_000268.4(NF2):c.656_657insA (p.Asn220fs)	NF2	Pathogenic	22	30054234	30054235	T	TA	criteria provided, single submitter	ClinGen:CA658656829