C4478716[trait identifier] AND "ClinGen RASopathy Variant Curation Exp - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6821	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SHOC2 (S2G)	Single nucleotide variant (missense variant)	Noonan syndrome-like disorder with loose anagen hair 1	GPathogenic FDA Recognized database
Select item 40635	NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)	SHOC2 (S4R)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 181526	NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)	SHOC2 (E13A)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 139104	NM_007373.4(SHOC2):c.457C>T (p.Leu153=)	SHOC2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 181528	NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SHOC2 (M173I)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 139110	NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)	SHOC2 (S532G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database

ClinVar