"Ambry Genetics"[submitter] AND "LOC113845788"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482265	NM_001079872.2(CUL4B):c.389C>A (p.Thr130Asn)	CUL4B, LOC113845788 (T130N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 420582	NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)	CUL4B, LOC113845788	Microsatellite (inframe_insertion)	CUL4B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 533698	NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)	CUL4B, LOC113845788 (L125V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3078960	NM_001079872.2(CUL4B):c.159C>G (p.Asn53Lys)	CUL4B, LOC113845788 (N58K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3078958	NM_001079872.2(CUL4B):c.86G>C (p.Ser29Thr)	CUL4B, LOC113845788 (S34T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229676	NM_001079872.2(CUL4B):c.47C>A (p.Ala16Asp)	CUL4B, LOC113845788 (A34D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar