C0040136[trait identifier] AND "Yale Center for Mendelian Genomics, Ya - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156446	NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	PIK3CA (G118D)	Single nucleotide variant (missense variant)	Cowden syndrome +2 more	GPathogenic
Select item 1344808	NM_018180.3(DHX32):c.798T>G (p.Ile266Met)	DHX32 (I266M)	Single nucleotide variant (missense variant)	Thyroid tumor	GUncertain significance
Select item 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	LRRC56, HRAS (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12583	NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	KRAS (G12V)	Single nucleotide variant (missense variant)	RASopathy +4 more	GPathogenic
Select item 12582	NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	KRAS (G12D)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic

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