"3billion"[submitter] AND "CUL7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 911419	NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile)	CUL7 (V1524I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1687448	NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter)	CUL7 (Q1432* +2 more)	Single nucleotide variant (nonsense)	3M syndrome 1	GPathogenic
Select item 2572378	NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg)	CUL7 (W1282R +2 more)	Single nucleotide variant (missense variant)	3M syndrome 1	GUncertain significance
Select item 2146950	NM_014780.5(CUL7):c.3046G>A (p.Gly1016Ser)	CUL7 (G1016S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1705561	NM_014780.5(CUL7):c.2862+1G>A	CUL7	Single nucleotide variant (splice donor variant)	3M syndrome 1	GLikely pathogenic
Select item 1705462	NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)	CUL7 (N921fs +1 more)	Microsatellite (frameshift variant)	3M syndrome 1	GLikely pathogenic
Select item 1705498	NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)	CUL7 (N719fs +1 more)	Insertion (frameshift variant)	3M syndrome 1	GPathogenic
Select item 1432801	NM_014780.5(CUL7):c.548G>A (p.Arg183Gln)	CUL7 (R183Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar