6764[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 155423	GRCh38/hg38 11p15.4(chr11:7995676-10437205)x3	ADM, ADM-DT +135 more	Copy number gain	See cases	GUncertain significance
Select item 1236934	NM_213618.2(DENND2B):c.3379+7G>A	DENND2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3081542	NM_213618.2(DENND2B):c.3284G>A (p.Arg1095Gln)	DENND2B (R615Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555634	NM_213618.2(DENND2B):c.3261A>C (p.Gln1087His)	DENND2B (Q1087H +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528615	NM_213618.2(DENND2B):c.3181C>T (p.Arg1061Cys)	DENND2B (R569C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081541	NM_213618.2(DENND2B):c.3170G>A (p.Arg1057Gln)	DENND2B (R877Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081540	NM_213618.2(DENND2B):c.3076G>A (p.Val1026Met)	DENND2B (V1026M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081539	NM_213618.2(DENND2B):c.3049G>A (p.Asp1017Asn)	DENND2B (D597N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081538	NM_213618.2(DENND2B):c.3013G>A (p.Glu1005Lys)	DENND2B (E477K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081537	NM_213618.2(DENND2B):c.2957C>T (p.Thr986Met)	DENND2B (T494M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081535	NM_213618.2(DENND2B):c.2894A>C (p.Glu965Ala)	DENND2B (E485A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754395	NM_213618.2(DENND2B):c.2832C>T (p.Pro944=)	DENND2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3081533	NM_213618.2(DENND2B):c.2742C>G (p.His914Gln)	DENND2B (H914Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641582	NM_213618.2(DENND2B):c.2648T>C (p.Val883Ala)	DENND2B (V355A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3081532	NM_213618.2(DENND2B):c.2647G>A (p.Val883Met)	DENND2B (V391M +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561218	NM_213618.2(DENND2B):c.2645G>A (p.Ser882Asn)	DENND2B (S354N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551459	NM_213618.2(DENND2B):c.2603G>C (p.Arg868Thr)	DENND2B (R340T +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769795	NM_213618.2(DENND2B):c.2467G>A (p.Ala823Thr)	DENND2B (A295T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3081530	NM_213618.2(DENND2B):c.2449C>T (p.Arg817Cys)	DENND2B (R289C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518745	NM_213618.2(DENND2B):c.2401C>T (p.Arg801Cys)	DENND2B (R321C +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081529	NM_213618.2(DENND2B):c.2369C>T (p.Pro790Leu)	DENND2B (P298L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551458	NM_213618.2(DENND2B):c.2357G>A (p.Ser786Asn)	DENND2B (S559N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641583	NM_213618.2(DENND2B):c.2353-450A>C	DENND2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3081528	NM_213618.2(DENND2B):c.2264C>T (p.Pro755Leu)	DENND2B (P263L +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2513982	NM_213618.2(DENND2B):c.2180G>A (p.Arg727Gln)	DENND2B (R547Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2619065	NM_213618.2(DENND2B):c.2173C>G (p.Leu725Val)	DENND2B (L498V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543424	NM_213618.2(DENND2B):c.2171A>G (p.Lys724Arg)	DENND2B (K232R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081527	NM_213618.2(DENND2B):c.2132G>A (p.Arg711Gln)	DENND2B (R291Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081526	NM_213618.2(DENND2B):c.2017T>A (p.Ser673Thr)	DENND2B (S145T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 708399	NM_213618.2(DENND2B):c.2010C>T (p.His670=)	DENND2B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3081525	NM_213618.2(DENND2B):c.2000G>A (p.Arg667His)	DENND2B (R139H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2482535	NM_213618.2(DENND2B):c.1922T>C (p.Ile641Thr)	DENND2B (I113T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081524	NM_213618.2(DENND2B):c.1864T>A (p.Ser622Thr)	DENND2B (S202T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2542975	NM_213618.2(DENND2B):c.1835G>A (p.Arg612His)	DENND2B (R612H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081522	NM_213618.2(DENND2B):c.1826G>A (p.Arg609Gln)	DENND2B (R382Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3271523	NM_213618.2(DENND2B):c.1825C>T (p.Arg609Trp)	DENND2B (R609W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081521	NM_213618.2(DENND2B):c.1823G>A (p.Arg608His)	DENND2B (R428H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 806616	NM_213618.2(DENND2B):c.1798A>T (p.Thr600Ser)	DENND2B (T72S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3081520	NM_213618.2(DENND2B):c.1760C>T (p.Pro587Leu)	DENND2B (P167L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081519	NM_213618.2(DENND2B):c.1756C>G (p.Leu586Val)	DENND2B (L166V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081518	NM_213618.2(DENND2B):c.1719C>A (p.His573Gln)	DENND2B (H346Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081517	NM_213618.2(DENND2B):c.1716G>T (p.Arg572Ser)	DENND2B (R392S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081516	NM_213618.2(DENND2B):c.1678G>C (p.Glu560Gln)	DENND2B (E380Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2525807	NM_213618.2(DENND2B):c.1616G>A (p.Ser539Asn)	DENND2B (S119N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618370	NM_213618.2(DENND2B):c.1582A>G (p.Arg528Gly)	DENND2B (R301G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081515	NM_213618.2(DENND2B):c.1570G>A (p.Asp524Asn)	DENND2B (D297N +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081514	NM_213618.2(DENND2B):c.1424C>T (p.Pro475Leu)	DENND2B (P295L +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2508191	NM_213618.2(DENND2B):c.1396C>G (p.Pro466Ala)	DENND2B (P46A +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081512	NM_213618.2(DENND2B):c.1372C>G (p.Leu458Val)	DENND2B (L231V +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081511	NM_213618.2(DENND2B):c.1345T>C (p.Ser449Pro)	DENND2B (S29P +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081510	NM_213618.2(DENND2B):c.1264T>G (p.Leu422Val)	DENND2B (L242V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 779349	NM_213618.2(DENND2B):c.1260T>C (p.Pro420=)	DENND2B	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3081509	NM_213618.2(DENND2B):c.1252G>A (p.Ala418Thr)	DENND2B (A191T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081508	NM_213618.2(DENND2B):c.1244C>T (p.Thr415Ile)	DENND2B (T235I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520188	NM_213618.2(DENND2B):c.1223A>G (p.Asn408Ser)	DENND2B (N181S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606196	NM_213618.2(DENND2B):c.1172A>T (p.Lys391Met)	DENND2B (K211M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2603155	NM_213618.2(DENND2B):c.1141G>C (p.Asp381His)	DENND2B (D154H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081507	NM_213618.2(DENND2B):c.1136C>A (p.Ser379Tyr)	DENND2B (S152Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081506	NM_213618.2(DENND2B):c.1083G>C (p.Lys361Asn)	DENND2B (K181N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081505	NM_213618.2(DENND2B):c.1031T>C (p.Val344Ala)	DENND2B (V164A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081551	NM_213618.2(DENND2B):c.985G>A (p.Gly329Ser)	DENND2B (G149S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 218672	NM_213618.2(DENND2B):c.935G>A (p.Arg312Gln)	DENND2B (R312Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2672459	NM_213618.2(DENND2B):c.825G>T (p.Arg275Ser)	DENND2B (R48S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2613926	NM_213618.2(DENND2B):c.754T>A (p.Ser252Thr)	DENND2B (S252T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 769796	NM_213618.2(DENND2B):c.749G>A (p.Arg250Gln)	DENND2B (R250Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2616758	NM_213618.2(DENND2B):c.704G>A (p.Cys235Tyr)	DENND2B (C235Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081550	NM_213618.2(DENND2B):c.669G>C (p.Lys223Asn)	DENND2B (K223N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3271525	NM_213618.2(DENND2B):c.661G>T (p.Asp221Tyr)	DENND2B (D41Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516384	NM_213618.2(DENND2B):c.557A>G (p.Glu186Gly)	DENND2B (E6G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3081548	NM_213618.2(DENND2B):c.543G>A (p.Met181Ile)	DENND2B (M1I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081547	NM_213618.2(DENND2B):c.521G>C (p.Arg174Pro)	DENND2B (R174P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2513571	NM_213618.2(DENND2B):c.505T>C (p.Ser169Pro)	DENND2B (S169P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081546	NM_213618.2(DENND2B):c.493C>T (p.Arg165Trp)	DENND2B (R165W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081545	NM_213618.2(DENND2B):c.445G>C (p.Gly149Arg)	DENND2B (G149R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081544	NM_213618.2(DENND2B):c.422C>T (p.Pro141Leu)	DENND2B (P141L)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3081543	NM_213618.2(DENND2B):c.361G>A (p.Ala121Thr)	DENND2B (A121T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2457322	NM_213618.2(DENND2B):c.349A>G (p.Ser117Gly)	DENND2B (S117G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081536	NM_213618.2(DENND2B):c.289G>A (p.Ala97Thr)	DENND2B (A97T)	Single nucleotide variant (intron variant +3 more)	not specified	GLikely benign
Select item 3081531	NM_213618.2(DENND2B):c.247C>T (p.Pro83Ser)	DENND2B (P83S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3271524	NM_213618.2(DENND2B):c.245A>T (p.Asp82Val)	DENND2B (D82V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2463122	NM_213618.2(DENND2B):c.241C>G (p.Gln81Glu)	DENND2B (Q81E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2479004	NM_213618.2(DENND2B):c.190C>T (p.Arg64Trp)	DENND2B (R64W)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081513	NM_213618.2(DENND2B):c.137C>T (p.Pro46Leu)	DENND2B (P46L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 719913	NM_213618.2(DENND2B):c.81-4C>A	DENND2B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2470926	NM_213618.2(DENND2B):c.65G>A (p.Arg22Gln)	DENND2B (R22Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3081549	NM_213618.2(DENND2B):c.61C>T (p.Pro21Ser)	DENND2B (P21S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2508192	NM_213618.2(DENND2B):c.35C>A (p.Thr12Asn)	DENND2B (T12N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2641584	NM_213618.2(DENND2B):c.-25-25461_-25-25460insGTTGT	DENND2B, DENND2B-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2641587	NM_213618.2(DENND2B):c.-25-25462_-25-25461insGGGTGTGTGTGTGT	DENND2B, DENND2B-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 2641586	NM_213618.2(DENND2B):c.-25-25462_-25-25461insGGGTGTGTGTGTGTGT	DENND2B, DENND2B-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 2641585	NM_213618.2(DENND2B):c.-25-25462_-25-25461insGGGTGTGTGTGTGTGTGTGT	DENND2B, DENND2B-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 3242315	GRCh37/hg19 11p15.4(chr11:8548056-10497905)x3	ADM, AKIP1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	ANO9, AP2A2 +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 815409	GRCh37/hg19 11p15.4(chr11:8859352-9226956)x3	ASCL3, AKIP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	C11orf40, C11orf42 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	ADM, AKIP1 +258 more	Copy number gain	not provided	GPathogenic

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