"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CUL7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282333	NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser)	CUL7 (G872S +1 more)	Single nucleotide variant (missense variant)	3M syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1498669	NM_014780.5(CUL7):c.2230G>A (p.Val744Met)	CUL7 (V776M +1 more)	Single nucleotide variant (missense variant)	3M syndrome 1 +1 more	GUncertain significance
Select item 282301	NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter)	CUL7 (R722* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 198212	NM_014780.5(CUL7):c.1542G>T (p.Gln514His)	CUL7 (Q514H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 197299	NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr)	CUL7 (A344T +1 more)	Single nucleotide variant (missense variant)	3M syndrome 1 +2 more	GBenign/Likely benign
Select item 356855	NM_014780.5(CUL7):c.587G>A (p.Arg196Gln)	CUL7 (R196Q +1 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance

ClinVar