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
Duplication	NM_001042492.3(NF1):c.4574dup (p.Asn1525fs)	NF1	Pathogenic	17	29587528	29587529	C	CA	criteria provided, single submitter	ClinGen:CA16615232
Duplication	NM_001042492.3(NF1):c.4747_4748dup (p.Phe1584fs)	NF1	Pathogenic	17	29592267	29592268	A	AAG	criteria provided, single submitter	ClinGen:CA16615252
single nucleotide variant	NM_001042492.3(NF1):c.5013C>A (p.Tyr1671Ter)	NF1	Pathogenic	17	29653015	29653015	C	A	criteria provided, single submitter	ClinGen:CA16615267
Duplication	NM_001042492.3(NF1):c.5083_5084dup (p.Leu1696fs)	NF1	Pathogenic	17	29653083	29653084	A	AGC	criteria provided, single submitter	ClinGen:CA16615270
Deletion	NM_001042492.3(NF1):c.5699del (p.Ile1900fs)	NF1	Pathogenic	17	29657403	29657403	AT	A	criteria provided, single submitter	ClinGen:CA16615275
Duplication	NM_001042492.3(NF1):c.5731_5734dup (p.Ser1912delinsAsnTer)	NF1	Pathogenic	17	29657434	29657435	T	TATTA	criteria provided, single submitter	ClinGen:CA16615284
single nucleotide variant	NM_001042492.3(NF1):c.6705-1G>C	NF1	Pathogenic/Likely pathogenic	17	29665042	29665042	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615285
Insertion	NM_001042492.3(NF1):c.5908_5909insTA (p.Arg1970fs)	NF1	Pathogenic	17	29661950	29661951	A	AAT	criteria provided, single submitter	ClinGen:CA16615287
single nucleotide variant	NM_001042492.3(NF1):c.7314C>G (p.Tyr2438Ter)	NF1	Pathogenic	17	29676262	29676262	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615290
Deletion	NM_001042492.3(NF1):c.5925del (p.Asp1976fs)	NF1	Pathogenic	17	29661967	29661967	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615291