"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CUL3"[gene - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 334586	NM_003590.5(CUL3):c.*2945G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 334599	NM_003590.5(CUL3):c.*2272T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GConflicting classifications of pathogenicity
Select item 334603	NM_003590.5(CUL3):c.*2130A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 334608	NM_003590.5(CUL3):c.1934_1937del	CUL3	Deletion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1711527	NM_003590.5(CUL3):c.*669T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 334622	NM_003590.5(CUL3):c.*294A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GConflicting classifications of pathogenicity
Select item 2126166	NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)	CUL3 (R761C +2 more)	Single nucleotide variant (missense variant)	CUL3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2195670	NM_003590.5(CUL3):c.2088C>T (p.Asp696=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571122	NM_003590.5(CUL3):c.1894C>T (p.Gln632Ter)	CUL3 (Q566* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2571123	NM_003590.5(CUL3):c.1552G>A (p.Ala518Thr)	CUL3 (A452T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672862	NM_003590.5(CUL3):c.1549T>G (p.Ser517Ala)	CUL3 (S451A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651947	NM_003590.5(CUL3):c.1449G>A (p.Thr483=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2578898	NM_003590.5(CUL3):c.1323C>T (p.Leu441=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2582993	NM_003590.5(CUL3):c.1166C>T (p.Ser389Leu)	CUL3 (S323L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2672863	NM_003590.5(CUL3):c.1155T>C (p.Pro385=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1298855	NM_003590.5(CUL3):c.998_1000del (p.Gly333del)	CUL3 (G267del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2146579	NM_003590.5(CUL3):c.768G>A (p.Thr256=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1879522	NM_003590.5(CUL3):c.696A>G (p.Val232=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1175991	NM_003590.5(CUL3):c.532G>A (p.Val178Ile)	CUL3 (V112I +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +3 more	GUncertain significance
Select item 1298856	NM_003590.5(CUL3):c.477del (p.His160fs)	CUL3 (H160fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2088695	NM_003590.5(CUL3):c.443G>A (p.Arg148Gln)	CUL3 (R148Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651948	NM_003590.5(CUL3):c.387G>T (p.Val129=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184988	NM_003590.5(CUL3):c.24G>C (p.Thr8=)	CUL3, LOC129935709	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651949	NM_003590.5(CUL3):c.-191GCC[10]	CUL3	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 898341	NM_003590.5(CUL3):c.-246C>T	CUL3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898343	NM_003590.5(CUL3):c.-289G>A	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 809209	GRCh37/hg19 2q36.2(chr2:225376071-225379489)x1	CUL3	Copy number loss	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic

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Items: 28