C0265227[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326734	NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile)	SETBP1 (T346I)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 1199493	NM_015559.3(SETBP1):c.1058_1059delinsTC (p.Asp353Val)	SETBP1 (D353V)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 326740	NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)	SETBP1	Single nucleotide variant (synonymous variant)	SETBP1-related disorder +4 more	GBenign/Likely benign
Select item 157560	NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter)	SETBP1 (R626*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1188405	NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile)	SETBP1 (V688I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 546818	NM_015559.3(SETBP1):c.2934C>T (p.His978=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign
Select item 326753	NM_015559.3(SETBP1):c.3618T>C (p.His1206=)	SETBP1	Single nucleotide variant (synonymous variant)	Schinzel-Giedion syndrome +3 more	GBenign/Likely benign
Select item 159880	NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp)	SETBP1 (E1466D)	Single nucleotide variant (missense variant)	Schinzel-Giedion syndrome +2 more	GBenign/Likely benign

ClinVar