ClinVar for MedGen (Select 483336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254545	NM_003590.5(CUL3):c.1312A>G (p.Arg438Gly)	CUL3 (R372G +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E	GPathogenic
Select item 3061868	NM_003590.5(CUL3):c.1207-19C>G	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 2441683	NM_003590.5(CUL3):c.1629_1630del (p.His543fs)	CUL3 (H477fs +2 more)	Microsatellite (frameshift variant)	Pseudohypoaldosteronism type 2E +1 more	GLikely pathogenic
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 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 975925	NM_003590.5(CUL3):c.641C>G (p.Ala214Gly)	CUL3 (A148G +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E	GPathogenic
Select item 974891	NM_003590.5(CUL3):c.1358dup (p.Asn453fs)	CUL3 (N387fs +2 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GConflicting classifications of pathogenicity
Select item 899315	NM_003590.5(CUL3):c.*1883T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 899314	NM_003590.5(CUL3):c.*1943A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 899313	NM_003590.5(CUL3):c.*2008G>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 899257	NM_003590.5(CUL3):c.*3596A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898345	NM_003590.5(CUL3):c.-317C>A	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898344	NM_003590.5(CUL3):c.-291A>T	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898343	NM_003590.5(CUL3):c.-289G>A	CUL3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 898342	NM_003590.5(CUL3):c.-270G>A	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898341	NM_003590.5(CUL3):c.-246C>T	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GConflicting classifications of pathogenicity
Select item 898340	NM_003590.5(CUL3):c.-220C>T	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign
Select item 898339	NM_003590.5(CUL3):c.-201C>G	CUL3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 898280	NM_003590.5(CUL3):c.1647A>G (p.Thr549=)	CUL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 898279	NM_003590.5(CUL3):c.1708-14T>A	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign
Select item 898278	NM_003590.5(CUL3):c.1902C>T (p.Leu634=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E	GBenign
Select item 898277	NM_003590.5(CUL3):c.*84C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898209	NM_003590.5(CUL3):c.*2341G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898208	NM_003590.5(CUL3):c.*2553A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898157	NM_003590.5(CUL3):c.*3810C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898156	NM_003590.5(CUL3):c.*3922A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898155	NM_003590.5(CUL3):c.*3958C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 898154	NM_003590.5(CUL3):c.*3973T>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GBenign
Select item 897179	NM_003590.5(CUL3):c.-185G>C	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897178	NM_003590.5(CUL3):c.-173G>C	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897177	NM_003590.5(CUL3):c.-169C>T	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897176	NM_003590.5(CUL3):c.-143G>A	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GBenign
Select item 897175	NM_003590.5(CUL3):c.-143G>C	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897174	NM_003590.5(CUL3):c.-118C>G	CUL3	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897173	NM_003590.5(CUL3):c.-51C>T	CUL3, LOC129935709	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897172	NM_003590.5(CUL3):c.-7G>A	CUL3, LOC129935709	Single nucleotide variant (5 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897116	NM_003590.5(CUL3):c.*124C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GBenign
Select item 897115	NM_003590.5(CUL3):c.*496A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897114	NM_003590.5(CUL3):c.*499T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897113	NM_003590.5(CUL3):c.*527A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 897112	NM_003590.5(CUL3):c.*540G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896709	NM_003590.5(CUL3):c.21C>T (p.Gly7=)	CUL3, LOC129935709	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
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 896654	NM_003590.5(CUL3):c.*664T>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896653	NM_003590.5(CUL3):c.*736A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896652	NM_003590.5(CUL3):c.*782G>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896651	NM_003590.5(CUL3):c.*784G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896650	NM_003590.5(CUL3):c.*790T>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896581	NM_003590.5(CUL3):c.*2689T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 896580	NM_003590.5(CUL3):c.*2851A>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 895284	NM_003590.5(CUL3):c.884-5T>C	CUL3	Single nucleotide variant (intron variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
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 895282	NM_003590.5(CUL3):c.1036T>C (p.Leu346=)	CUL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895281	NM_003590.5(CUL3):c.1293T>C (p.Tyr431=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 895280	NM_003590.5(CUL3):c.1401G>A (p.Thr467=)	CUL3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 895279	NM_003590.5(CUL3):c.1462A>C (p.Arg488=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 895226	NM_003590.5(CUL3):c.*915A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 895162	NM_003590.5(CUL3):c.*3134A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 523862	NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)	CUL3 (R247* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures +2 more	GPathogenic/Likely pathogenic
Select item 503870	NM_003590.5(CUL3):c.493_494del (p.Leu165fs)	CUL3 (L165fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures +3 more	GPathogenic/Likely pathogenic
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
Select item 334635	NM_003590.5(CUL3):c.304C>A (p.Leu102Ile)	CUL3 (L102I +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334634	NM_003590.5(CUL3):c.310A>T (p.Thr104Ser)	CUL3 (T104S +2 more)	Single nucleotide variant (missense variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334633	NM_003590.5(CUL3):c.600C>G (p.Val200=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign/Likely benign
Select item 334632	NM_003590.5(CUL3):c.693A>C (p.Ser231=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign/Likely benign
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 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 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 334627	NM_003590.5(CUL3):c.2052C>T (p.Ser684=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign/Likely benign
Select item 334625	NM_003590.5(CUL3):c.*89A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GConflicting classifications of pathogenicity
Select item 334624	NM_003590.5(CUL3):c.*207G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
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 334621	NM_003590.5(CUL3):c.*545A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334620	NM_003590.5(CUL3):c.*896G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334619	NM_003590.5(CUL3):c.*905A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334618	NM_003590.5(CUL3):c.*940C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334616	NM_003590.5(CUL3):c.*1403A>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334614	NM_003590.5(CUL3):c.*1483C>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334613	NM_003590.5(CUL3):c.*1498C>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334612	NM_003590.5(CUL3):c.*1506G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334611	NM_003590.5(CUL3):c.*1518A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334610	NM_003590.5(CUL3):c.*1774G>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334609	NM_003590.5(CUL3):c.*1872G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334606	NM_003590.5(CUL3):c.*2073A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334605	NM_003590.5(CUL3):c.*2093A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334603	NM_003590.5(CUL3):c.*2130A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GConflicting classifications of pathogenicity
Select item 334602	NM_003590.5(CUL3):c.*2192T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334601	NM_003590.5(CUL3):c.*2193G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign
Select item 334600	NM_003590.5(CUL3):c.*2195A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
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 334598	NM_003590.5(CUL3):c.*2424C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334597	NM_003590.5(CUL3):c.*2431G>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334596	NM_003590.5(CUL3):c.*2469G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334595	NM_003590.5(CUL3):c.*2584T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334594	NM_003590.5(CUL3):c.*2653G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334593	NM_003590.5(CUL3):c.*2756G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334592	NM_003590.5(CUL3):c.*2766G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334591	NM_003590.5(CUL3):c.*2854A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334590	NM_003590.5(CUL3):c.*2863T>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334589	NM_003590.5(CUL3):c.*2868T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance

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