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.182A>C (p.Asp61Ala)	PTPN11	Pathogenic/Likely pathogenic	12	112888166	112888166	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273600
single nucleotide variant	NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	PTPN11	Pathogenic/Likely pathogenic	12	112888198	112888198	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA180706,UniProtKB:Q06124#VAR_015996
single nucleotide variant	NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	PTPN11	Pathogenic/Likely pathogenic	12	112892440	112892440	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273218
single nucleotide variant	NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	KRAS	Pathogenic	12	25362830	25362830	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273160
single nucleotide variant	NM_004985.5(KRAS):c.214A>T (p.Met72Leu)	KRAS	Pathogenic/Likely pathogenic	12	25380244	25380244	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273592
single nucleotide variant	NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)	KRAS	Pathogenic	12	25380277	25380277	G	T	criteria provided, single submitter	ClinGen:CA180750
single nucleotide variant	NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	KRAS	Pathogenic/Likely pathogenic	12	25398211	25398211	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273162,UniProtKB:P01116#VAR_064854
single nucleotide variant	NM_004985.5(KRAS):c.179G>T (p.Gly60Val)	KRAS	Pathogenic/Likely pathogenic	12	25380279	25380279	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA176493
single nucleotide variant	NM_004985.5(KRAS):c.39C>A (p.Gly13=)	KRAS	Likely pathogenic	12	25398280	25398280	G	T	criteria provided, single submitter	ClinGen:CA176496
Duplication	NM_004333.6(BRAF):c.1794_1796dup (p.Thr599dup)	BRAF	Pathogenic	7	140453138	140453139	T	TGTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA251212