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.1781A>T (p.Asp594Val)	BRAF	Pathogenic	7	140453154	140453154	T	A	reviewed by expert panel	ClinGen:CA16602425
single nucleotide variant	NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	KRAS	Pathogenic	12	25378561	25378561	G	A	criteria provided, single submitter	ClinGen:CA16602440,OMIM:190070.0028
single nucleotide variant	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	KRAS	Pathogenic/Likely pathogenic	12	25378562	25378562	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602441
single nucleotide variant	NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	KRAS	Pathogenic	12	25378647	25378647	T	G	criteria provided, single submitter	ClinGen:CA6486888
single nucleotide variant	NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	MAP2K1	Pathogenic	15	66727451	66727451	A	C	criteria provided, single submitter	ClinGen:CA16602453,OMIM:176872.0006
single nucleotide variant	NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)	MAP2K1	Pathogenic	15	66729162	66729162	C	T	reviewed by expert panel	ClinGen:CA16602456
single nucleotide variant	NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys)	MAP2K1	Likely pathogenic	15	66774131	66774131	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602457
single nucleotide variant	NM_002755.4(MAP2K1):c.332T>A (p.Ile111Asn)	MAP2K1	Pathogenic	15	66729124	66729124	T	A	criteria provided, single submitter	ClinGen:CA16602649
single nucleotide variant	NM_004333.6(BRAF):c.1798G>C (p.Val600Leu)	BRAF	Pathogenic/Likely pathogenic	7	140453137	140453137	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602737
single nucleotide variant	NM_033360.4(KRAS):c.64C>A (p.Gln22Lys)	KRAS	Likely pathogenic	12	25398255	25398255	G	T	criteria provided, single submitter	ClinGen:CA16602771