"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome +1 more	GUncertain significance OOncogenic
Select item 160364	NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	HRAS, LRRC56 (Q61R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +1 more	GLikely pathogenic
Select item 548638	NM_005343.4(HRAS):c.145G>A (p.Glu49Lys)	HRAS, LRRC56 (E49K)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 548640	NM_005343.4(HRAS):c.100C>T (p.Pro34Ser)	HRAS, LRRC56 (P34S)	Single nucleotide variant (missense variant +1 more)	Vascular Tumors Including Pyogenic Granuloma	GUncertain significance
Select item 548639	NM_005343.4(HRAS):c.44G>A (p.Gly15Asp)	HRAS, LRRC56 (G15D)	Single nucleotide variant (missense variant +1 more)	Vascular Tumors Including Pyogenic Granuloma	GUncertain significance
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	Large congenital melanocytic nevus +2 more	GPathogenic/Likely pathogenic
Select item 376323	NM_005343.4(HRAS):c.37G>A (p.Gly13Ser)	HRAS, LRRC56 (G13S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	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