C1838023[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128623	NM_017721.5(CC2D1A):c.566C>T (p.Ala189Val)	CC2D1A (A189V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +2 more	GBenign/Likely benign
Select item 128624	NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu)	CC2D1A (S327L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 3 +3 more	GBenign/Likely benign
Select item 588568	NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)	CC2D1A (V449M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 985296	NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn)	CC2D1A (D656N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210600	NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)	CC2D1A (G781A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 128621	NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)	CC2D1A (R903W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 210604	NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)	CC2D1A (R922C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar