"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 515883	NM_002524.5(NRAS):c.432C>T (p.Thr144=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 40476	NM_002524.5(NRAS):c.360G>A (p.Leu120=)	NRAS	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334247	NM_002524.5(NRAS):c.179G>T (p.Gly60Val)	NRAS (G60V)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1070042	NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)	NRAS (T58I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 138538	NM_002524.5(NRAS):c.112-8A>G	NRAS	Single nucleotide variant (intron variant)	RASopathy +4 more	GConflicting classifications of pathogenicity
Select item 1107573	NM_002524.5(NRAS):c.69A>G (p.Leu23=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1334265	NM_002524.5(NRAS):c.42T>C (p.Val14=)	NRAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 219097	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS (G12A)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic