"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SHOC2"[gene] - ClinVar - NCBI

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Items: 10

	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 181527	NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	SHOC2 (I119V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 372586	NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp)	SHOC2 (R172W)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 948626	NM_007373.4(SHOC2):c.619G>A (p.Val207Met)	SHOC2 (V207M)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 139109	NM_007373.4(SHOC2):c.1423-7C>T	SHOC2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 1484743	NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val)	SHOC2 (L519V +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome-like disorder with loose anagen hair 1 +1 more	GUncertain significance
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
Select item 1354851	NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)	SHOC2 (S508G +1 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +2 more	GUncertain significance