"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CUL3"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334627	NM_003590.5(CUL3):c.2052C>T (p.Ser684=)	CUL3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without autism or seizures +3 more	GBenign/Likely benign
Select item 334628	NM_003590.5(CUL3):c.2029+14T>C	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334630	NM_003590.5(CUL3):c.1581A>T (p.Ala527=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 895283	NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg)	CUL3 (Q349R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334631	NM_003590.5(CUL3):c.883+13G>C	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 1679660	NM_003590.5(CUL3):c.563A>G (p.Gln188Arg)	CUL3 (Q122R +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +2 more	GUncertain significance
Select item 896708	NM_003590.5(CUL3):c.543C>T (p.Gly181=)	CUL3	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with or without autism or seizures +2 more	GBenign/Likely benign
Select item 1175991	NM_003590.5(CUL3):c.532G>A (p.Val178Ile)	CUL3 (V112I +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 334636	NM_003590.5(CUL3):c.264+9C>T	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign