8452[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	GPathogenic
Select item 148637	GRCh38/hg38 2q36.2-36.3(chr2:224415921-225227768)x1	CCDC195, CUL3 +17 more	Copy number loss	See cases	GUncertain significance
Select item 334568	NM_003590.5(CUL3):c.*4088T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334569	NM_003590.5(CUL3):c.*3991A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 898154	NM_003590.5(CUL3):c.*3973T>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GBenign
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 898156	NM_003590.5(CUL3):c.*3922A>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 334570	NM_003590.5(CUL3):c.*3789C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334571	NM_003590.5(CUL3):c.*3785dup	CUL3	Duplication (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 334572	NM_003590.5(CUL3):c.*3766G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334573	NM_003590.5(CUL3):c.*3753T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GConflicting classifications of pathogenicity
Select item 334574	NM_003590.5(CUL3):c.*3736del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GBenign
Select item 334575	NM_003590.5(CUL3):c.*3672T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 334576	NM_003590.5(CUL3):c.*3665T>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GConflicting classifications of pathogenicity
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 334577	NM_003590.5(CUL3):c.3531_3532del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
Select item 334578	NM_003590.5(CUL3):c.*3463T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 334579	NM_003590.5(CUL3):c.*3392A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334580	NM_003590.5(CUL3):c.*3367T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334581	NM_003590.5(CUL3):c.*3156A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GBenign/Likely benign
Select item 334582	NM_003590.5(CUL3):c.*3148A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
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 334583	NM_003590.5(CUL3):c.*3096G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 334584	NM_003590.5(CUL3):c.*3026G>A	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +1 more	GUncertain significance
Select item 334585	NM_003590.5(CUL3):c.2946_2949del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 334586	NM_003590.5(CUL3):c.*2945G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GBenign/Likely benign
Select item 334587	NM_003590.5(CUL3):c.*2923A>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 334588	NM_003590.5(CUL3):c.*2912T>C	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
Select item 334590	NM_003590.5(CUL3):c.*2863T>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
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 896580	NM_003590.5(CUL3):c.*2851A>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	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 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 896581	NM_003590.5(CUL3):c.*2689T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	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 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 898208	NM_003590.5(CUL3):c.*2553A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
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 334597	NM_003590.5(CUL3):c.*2431G>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
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 898209	NM_003590.5(CUL3):c.*2341G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	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 334600	NM_003590.5(CUL3):c.*2195A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GUncertain significance
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 334602	NM_003590.5(CUL3):c.*2192T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E +2 more	GBenign
Select item 334603	NM_003590.5(CUL3):c.*2130A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +2 more	GConflicting classifications of pathogenicity
Select item 334604	NM_003590.5(CUL3):c.*2117dup	CUL3	Duplication (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
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 334606	NM_003590.5(CUL3):c.*2073A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 334607	NM_003590.5(CUL3):c.*2037del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	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 899314	NM_003590.5(CUL3):c.*1943A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
Select item 334608	NM_003590.5(CUL3):c.1934_1937del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
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 334609	NM_003590.5(CUL3):c.*1872G>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
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 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 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 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 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 334615	NM_003590.5(CUL3):c.*1451AAC[1]	CUL3	Microsatellite (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GUncertain significance
Select item 334616	NM_003590.5(CUL3):c.*1403A>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GBenign/Likely benign
Select item 334617	NM_003590.5(CUL3):c.1245_1249del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
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 895226	NM_003590.5(CUL3):c.*915A>G	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
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 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 896650	NM_003590.5(CUL3):c.*790T>G	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 896652	NM_003590.5(CUL3):c.*782G>T	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 1711527	NM_003590.5(CUL3):c.*669T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 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 897112	NM_003590.5(CUL3):c.*540G>A	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 897114	NM_003590.5(CUL3):c.*499T>C	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GUncertain significance
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 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 334623	NM_003590.5(CUL3):c.265_269del	CUL3	Deletion (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1	GLikely benign
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 897116	NM_003590.5(CUL3):c.*124C>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Pseudohypoaldosteronism type 2E	GBenign
Select item 334625	NM_003590.5(CUL3):c.*89A>T	CUL3	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant pseudohypoaldosteronism type 1 +1 more	GConflicting classifications of pathogenicity
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 3363379	NM_003590.5(CUL3):c.2298T>G (p.Tyr766Ter)	CUL3 (Y700* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3065264	NM_003590.5(CUL3):c.2293A>G (p.Thr765Ala)	CUL3 (T699A +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures	GUncertain significance
Select item 1920562	NM_003590.5(CUL3):c.2285A>G (p.Lys762Arg)	CUL3 (K768R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126166	NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)	CUL3 (R761C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497884	NM_003590.5(CUL3):c.2267G>A (p.Arg756Gln)	CUL3 (R690Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501546	NM_003590.5(CUL3):c.2266C>T (p.Arg756Ter)	CUL3 (R690* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2879587	NM_003590.5(CUL3):c.2265A>G (p.Ala755=)	CUL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591542	NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr)	CUL3 (I749T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures	GLikely pathogenic

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