6266[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 521

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	ABCG4, ACAD8 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	LOC130006995, LOC130006996 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	LOC121832824, LOC124625855 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	LOC126861375, LOC126861376 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	ACAD8, ACRV1 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ACAD8, ACRV1 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	ACAD8, ACRV1 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	ACAD8, ACRV1 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	ACAD8, ACRV1 +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC121392954, LOC121832822 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 57257	GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1	ARHGAP32, CDON +116 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	ACAD8, ADAMTS15 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC130007027, LOC130007028 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	LOC130007109, LOC130007110 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 150923	GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1	ADAMTS15, ADAMTS8 +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 303615	NM_000890.5(KCNJ5):c.-333CA[24]	KCNJ5	Microsatellite (5 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 878218	NM_000890.5(KCNJ5):c.-307C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 878219	NM_000890.5(KCNJ5):c.-305C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303581	NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 878220	NM_000890.5(KCNJ5):c.-303C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 303585	NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303584	NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303583	NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303582	NM_000890.5(KCNJ5):c.-303_-291delinsGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 878221	NM_000890.5(KCNJ5):c.-301C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 303590	NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303589	NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303588	NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303587	NM_000890.5(KCNJ5):c.-301_-291delinsGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303586	NM_000890.5(KCNJ5):c.-301_-291delinsG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 878222	NM_000890.5(KCNJ5):c.-299C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 303591	NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 878223	NM_000890.5(KCNJ5):c.-297C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 303594	NM_000890.5(KCNJ5):c.-295GA[3]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GUncertain significance
Select item 303593	NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303592	NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 1344982	NM_000890.5(KCNJ5):c.-293GA[5]	KCNJ5	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 303601	NM_000890.5(KCNJ5):c.-295C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GConflicting classifications of pathogenicity
Select item 303600	NM_000890.5(KCNJ5):c.-293GA[4]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303599	NM_000890.5(KCNJ5):c.-293GA[3]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303598	NM_000890.5(KCNJ5):c.-294_-293insGAGA	KCNJ5	Insertion (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303597	NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303596	NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303595	NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 1294837	NM_000890.5(KCNJ5):c.-293_-284del	KCNJ5	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 303602	NM_000890.5(KCNJ5):c.-293_-288del	KCNJ5	Deletion (5 prime UTR variant)	Familial hyperaldosteronism +2 more	GConflicting classifications of pathogenicity
Select item 303610	NM_000890.5(KCNJ5):c.-293C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GConflicting classifications of pathogenicity
Select item 303609	NM_000890.5(KCNJ5):c.-291GA[3]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303608	NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +3 more	GUncertain significance
Select item 303607	NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303606	NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303605	NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303604	NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303603	NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303612	NM_000890.5(KCNJ5):c.-291_-286del	KCNJ5	Deletion (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303611	NM_000890.5(KCNJ5):c.-291_-288del	KCNJ5	Deletion (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 879671	NM_000890.5(KCNJ5):c.-291C>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 303622	NM_000890.5(KCNJ5):c.-289GA[20]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303617	NM_000890.5(KCNJ5):c.-289GA[19]	KCNJ5	Microsatellite (5 prime UTR variant)	Congenital long QT syndrome +3 more	GUncertain significance
Select item 303616	NM_000890.5(KCNJ5):c.-289GA[18]	KCNJ5	Microsatellite (5 prime UTR variant)	Familial hyperaldosteronism +4 more	GUncertain significance
Select item 303614	NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303613	NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG	KCNJ5	Indel (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303620	NM_000890.5(KCNJ5):c.-284_-283insAAGAGA	KCNJ5	Insertion (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303618	NM_000890.5(KCNJ5):c.-289G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 303619	NM_000890.5(KCNJ5):c.-287G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303621	NM_000890.5(KCNJ5):c.-285G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +2 more	GUncertain significance
Select item 879672	NM_000890.5(KCNJ5):c.-277G>A	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GBenign
Select item 303623	NM_000890.5(KCNJ5):c.-272A>G	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 303624	NM_000890.5(KCNJ5):c.-258_-255del	KCNJ5	Deletion (5 prime UTR variant)	Familial hyperaldosteronism +1 more	GUncertain significance
Select item 303625	NM_000890.5(KCNJ5):c.-253G>T	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GUncertain significance
Select item 879673	NM_000890.5(KCNJ5):c.-213G>A	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 880037	NM_000890.5(KCNJ5):c.-145C>T	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 303626	NM_000890.5(KCNJ5):c.-63G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III +1 more	GConflicting classifications of pathogenicity
Select item 880038	NM_000890.5(KCNJ5):c.-35G>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 507020	NM_000890.5(KCNJ5):c.-11+14T>C	KCNJ5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1183781	NM_000890.5(KCNJ5):c.-11+59G>A	KCNJ5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 788573	NR_045767.1(KCNJ5-AS1):n.417A>G	KCNJ5, KCNJ5-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1189051	NM_000890.5(KCNJ5):c.-10-81C>T	KCNJ5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 931771	NM_000890.5(KCNJ5):c.-9A>C	KCNJ5	Single nucleotide variant (5 prime UTR variant)	Familial hyperaldosteronism type III	GUncertain significance
Select item 1994096	NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)	KCNJ5	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign

<< First< Prev

Page of 6