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.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.722C>A (p.Thr241Lys)	BRAF	Pathogenic	7	140501350	140501350	G	T	reviewed by expert panel	ClinGen:CA261663
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
single nucleotide variant	NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	BRAF	Pathogenic/Likely pathogenic	7	140501287	140501287	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA280033
single nucleotide variant	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	BRAF	Likely pathogenic	7	140501279	140501279	C	G	reviewed by expert panel	ClinGen:CA261666
single nucleotide variant	NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	KRAS	Pathogenic	12	25380276	25380276	T	A	criteria provided, single submitter	ClinGen:CA210876
single nucleotide variant	NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	KRAS	Likely pathogenic	12	25398284	25398284	C	G	criteria provided, single submitter	ClinGen:CA135567,UniProtKB:P01116#VAR_036305