ヌーナン症候群

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
single nucleotide variant	NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	MAP2K1	Likely pathogenic	15	66727559	66727559	T	G	reviewed by expert panel	ClinGen:CA134601
single nucleotide variant	NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)	PTPN11	Likely pathogenic	12	112888219	112888219	C	A	criteria provided, single submitter	ClinGen:CA261581
single nucleotide variant	NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	BRAF	Likely pathogenic	7	140481412	140481412	C	T	criteria provided, single submitter	ClinGen:CA135079
single nucleotide variant	NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)	BRAF	Likely pathogenic	7	140481399	140481399	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA261657
single nucleotide variant	NM_004333.6(BRAF):c.1501G>C (p.Glu501Gln)	BRAF	Likely pathogenic	7	140477807	140477807	C	G	criteria provided, single submitter	ClinGen:CA280010
single nucleotide variant	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF	Likely pathogenic	7	140453155	140453155	C	T	criteria provided, single submitter	ClinGen:CA135095
single nucleotide variant	NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	BRAF	Likely pathogenic	7	140453137	140453137	C	T	criteria provided, single submitter	ClinGen:CA135101
single nucleotide variant	NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)	BRAF	Likely pathogenic	7	140453137	140453137	C	A	criteria provided, single submitter	ClinGen:CA135104
Deletion	NM_004333.6(BRAF):c.1799_1801del (p.Val600_Lys601delinsGlu)	BRAF	Likely pathogenic	7	140453134	140453136	TTCA	T	criteria provided, single submitter	ClinGen:CA135107
single nucleotide variant	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF	Likely pathogenic	7	140501333	140501333	A	C	reviewed by expert panel	ClinGen:CA135140