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_004985.5(KRAS):c.101C>G (p.Pro34Arg)	KRAS	Pathogenic/Likely pathogenic	12	25398218	25398218	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA280040,UniProtKB:P01116#VAR_026110,OMIM:190070.0013
single nucleotide variant	NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)	KRAS	Pathogenic	12	25398282	25398282	C	G	criteria provided, single submitter	ClinGen:CA122542,UniProtKB:P01116#VAR_065145,OMIM:190070.0016
single nucleotide variant	NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)	KRAS	Pathogenic	12	25398304	25398304	T	A	reviewed by expert panel	ClinGen:CA234191,UniProtKB:P01116#VAR_064849,OMIM:190070.0017
single nucleotide variant	NM_033360.4(KRAS):c.*22C>G	KRAS	Pathogenic	12	25362828	25362828	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA279964,OMIM:190070.0018
single nucleotide variant	NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	KRAS	Pathogenic/Likely pathogenic	12	25398306	25398306	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA250291,UniProtKB:P01116#VAR_065144,OMIM:190070.0019
single nucleotide variant	NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	KRAS	Pathogenic	12	25380280	25380280	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256484,UniProtKB:P01116#VAR_065146,OMIM:190070.0020
Duplication	NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)	SOS1	Likely pathogenic	2	39222361	39222362	T	TG	criteria provided, single submitter	OMIM:182530.0001,ClinGen:CA122763
single nucleotide variant	NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SOS1	Pathogenic	2	39278352	39278352	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA256578,UniProtKB:Q07889#VAR_030424,OMIM:182530.0002
single nucleotide variant	NM_005633.4(SOS1):c.806T>G (p.Met269Arg)	SOS1	Pathogenic	2	39278343	39278343	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA235346,UniProtKB:Q07889#VAR_030425,OMIM:182530.0003
single nucleotide variant	NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SOS1	Pathogenic	2	39249915	39249915	T	C	reviewed by expert panel	ClinGen:CA235350,UniProtKB:Q07889#VAR_030434,OMIM:182530.0004