神経線維腫症I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	NC_000017.11:g.(?_31325814)_(31374161_?)del	NF1	Pathogenic	17	29652832	29701179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31095304)_(31374161_?)del	NF1	Pathogenic	17	29422322	29701179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31155977)_(31374161_?)del	NF1	Pathogenic	17	29482995	29701179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325800)_(31360723_?)del	NF1	Pathogenic	17	29652818	29687741	na	na	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8205_8214del (p.Asp2736fs)	NF1	Pathogenic	17	29687549	29687558	TTGATGCCTTG	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31334559)_(31359035_?)del	NF1	Pathogenic	17	29661577	29686053	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8160+1G>A	NF1	Likely pathogenic	17	29686034	29686034	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.8158A>T (p.Lys2720Ter)	NF1	Pathogenic	17	29686031	29686031	A	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8159del (p.Lys2720fs)	NF1	Likely pathogenic	17	29686030	29686030	CA	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.8112_8113del (p.Ser2705fs)	NF1	Pathogenic	17	29685638	29685639	CAA	C	criteria provided, single submitter	ClinGen:CA658798794