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_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	PTPN11	Likely pathogenic	12	112888151	112888151	T	C	reviewed by expert panel	ClinGen:CA243707917
single nucleotide variant	NM_002880.4(RAF1):c.788T>A (p.Val263Asp)	RAF1	Pathogenic/Likely pathogenic	3	12645681	12645681	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351512308
single nucleotide variant	NM_002834.5(PTPN11):c.1112G>A (p.Trp371Ter)	PTPN11	Pathogenic	12	112919897	112919897	G	A	criteria provided, single submitter	ClinGen:CA386775560
Insertion	NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs)	LZTR1	Likely pathogenic	22	21341820	21341821	C	CT	criteria provided, single submitter	ClinGen:CA658799493
single nucleotide variant	NM_002880.4(RAF1):c.775T>G (p.Ser259Ala)	RAF1	Pathogenic	3	12645694	12645694	A	C	reviewed by expert panel	ClinGen:CA351512423
single nucleotide variant	NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)	SOS1	Pathogenic/Likely pathogenic	2	39239450	39239450	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA346364396
single nucleotide variant	NM_002880.4(RAF1):c.1837C>A (p.Leu613Ile)	RAF1	Likely pathogenic	3	12626123	12626123	G	T	criteria provided, single submitter	ClinGen:CA351496090
single nucleotide variant	NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)	BRAF	Pathogenic/Likely pathogenic	7	140476832	140476832	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369588212
single nucleotide variant	NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)	PTPN11	Likely pathogenic	12	112915686	112915686	A	G	criteria provided, single submitter	ClinGen:CA386791125
single nucleotide variant	NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)	LZTR1	Pathogenic	22	21350360	21350360	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA410779953