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
single nucleotide variant	NM_000268.4(NF2):c.517-2A>G	NF2	Pathogenic	22	30051581	30051581	A	G	criteria provided, single submitter	ClinGen:CA16616358
single nucleotide variant	NM_000268.4(NF2):c.517-1G>A	NF2	Pathogenic	22	30051582	30051582	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621094
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.583_589del (p.His195fs)	NF2	Pathogenic	22	30051646	30051652	AGAGCACC	A	criteria provided, single submitter	-
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
single nucleotide variant	NM_000268.4(NF2):c.592C>T (p.Arg198Ter)	NF2	Pathogenic	22	30051658	30051658	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142708
single nucleotide variant	NM_000268.4(NF2):c.599+1G>T	NF2	Pathogenic/Likely pathogenic	22	30051666	30051666	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411142734
single nucleotide variant	NM_000268.4(NF2):c.655G>A (p.Val219Met)	NF2	Likely pathogenic	22	30054233	30054233	G	A	criteria provided, single submitter	ClinGen:CA411143093
Insertion	NM_000268.4(NF2):c.656_657insA (p.Asn220fs)	NF2	Pathogenic	22	30054234	30054235	T	TA	criteria provided, single submitter	ClinGen:CA658656829
single nucleotide variant	NM_000268.4(NF2):c.658A>T (p.Asn220Tyr)	NF2	Pathogenic	22	30054236	30054236	A	T	criteria provided, multiple submitters, no conflicts	-