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_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2	Pathogenic	10	112724120	112724120	A	G	reviewed by expert panel	ClinGen:CA118524,UniProtKB:Q9UQ13#VAR_060199,OMIM:602775.0001
single nucleotide variant	NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	RRAS2	Pathogenic	11	14316390	14316390	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA120437,OMIM:600098.0001
single nucleotide variant	NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)	KRAS	Pathogenic/Likely pathogenic	12	25398285	25398285	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA122531,UniProtKB:P01116#VAR_016027,OMIM:190070.0002
single nucleotide variant	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS	Pathogenic	12	25398284	25398284	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA122538,UniProtKB:P01116#VAR_016026,OMIM:190070.0005,OMIM:190070.0025
single nucleotide variant	NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	KRAS	Pathogenic	12	25398284	25398284	C	A	criteria provided, multiple submitters, no conflicts	COSMIC:520,ClinGen:CA122540,UniProtKB:P01116#VAR_006840,OMIM:190070.0006,OMIM:190070.0026
single nucleotide variant	NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)	KRAS	Pathogenic	12	25398285	25398285	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA135565,UniProtKB:P01116#VAR_016028,OMIM:190070.0007
single nucleotide variant	NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	KRAS	Pathogenic	12	25380280	25380280	C	G	reviewed by expert panel	ClinGen:CA273416,UniProtKB:P01116#VAR_026112,OMIM:190070.0009
single nucleotide variant	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS	Pathogenic	12	25362838	25362838	T	A	reviewed by expert panel	ClinGen:CA256478,OMIM:190070.0010,OMIM:190070.0015
single nucleotide variant	NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	KRAS	Pathogenic	12	25380285	25380285	G	A	reviewed by expert panel	ClinGen:CA256480,UniProtKB:P01116#VAR_026111,OMIM:190070.0011
single nucleotide variant	NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	KRAS	Pathogenic	12	25398279	25398279	C	T	reviewed by expert panel	ClinGen:CA156358,UniProtKB:P01116#VAR_026109,OMIM:190070.0012