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_004333.6(BRAF):c.1447A>C (p.Lys483Gln)	BRAF	Pathogenic/Likely pathogenic	7	140477861	140477861	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280055
single nucleotide variant	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF	Likely pathogenic	7	140477854	140477854	A	G	reviewed by expert panel	ClinGen:CA280052
single nucleotide variant	NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn)	BRAF	Pathogenic/Likely pathogenic	7	140477811	140477811	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA281974,UniProtKB:P15056#VAR_058625
single nucleotide variant	NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)	BRAF	Pathogenic	7	140477811	140477811	T	A	criteria provided, single submitter	UniProtKB:P15056#VAR_058625
single nucleotide variant	NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	BRAF	Pathogenic	7	140477806	140477806	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA281977
single nucleotide variant	NM_004333.6(BRAF):c.1502A>T (p.Glu501Val)	BRAF	Pathogenic/Likely pathogenic	7	140477806	140477806	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA280013
single nucleotide variant	NM_004333.6(BRAF):c.1592G>T (p.Trp531Leu)	BRAF	Likely pathogenic	7	140476814	140476814	C	A	criteria provided, single submitter	ClinGen:CA281983
single nucleotide variant	NM_004333.6(BRAF):c.1595G>A (p.Cys532Tyr)	BRAF	Likely pathogenic	7	140476811	140476811	C	T	reviewed by expert panel	ClinGen:CA175337
single nucleotide variant	NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)	BRAF	Pathogenic/Likely pathogenic	7	140454033	140454033	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280016
single nucleotide variant	NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	BRAF	Pathogenic/Likely pathogenic	7	140454006	140454006	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA281986