ClinVar for Gene (Select 55693) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3533128	NM_018039.3(KDM4D):c.1564G>A (p.Val522Met)	KDM4D (V522M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533127	NM_018039.3(KDM4D):c.304C>T (p.Arg102Cys)	KDM4D (R102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533126	NM_018039.3(KDM4D):c.646C>G (p.Pro216Ala)	KDM4D (P216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533125	NM_018039.3(KDM4D):c.830A>G (p.Tyr277Cys)	KDM4D (Y277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533124	NM_018039.3(KDM4D):c.1058C>T (p.Pro353Leu)	KDM4D (P353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533123	NM_018039.3(KDM4D):c.1154C>T (p.Ser385Phe)	KDM4D (S385F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3533122	NM_018039.3(KDM4D):c.1174C>T (p.Arg392Cys)	KDM4D (R392C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391915	GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1	AMOTL1, ANKRD42 +67 more	Copy number loss	not provided	GPathogenic
Select item 3287930	NM_018039.3(KDM4D):c.1399C>A (p.Leu467Ile)	KDM4D (L467I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287929	NM_018039.3(KDM4D):c.947G>C (p.Arg316Thr)	KDM4D (R316T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287928	NM_018039.3(KDM4D):c.943G>T (p.Ala315Ser)	KDM4D (A315S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113823	NM_018039.3(KDM4D):c.788G>T (p.Arg263Leu)	KDM4D (R263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113822	NM_018039.3(KDM4D):c.1565T>G (p.Val522Gly)	KDM4D (V522G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113821	NM_018039.3(KDM4D):c.1534G>A (p.Val512Ile)	KDM4D (V512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113820	NM_018039.3(KDM4D):c.1355G>T (p.Gly452Val)	KDM4D (G452V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113819	NM_018039.3(KDM4D):c.1219C>T (p.Arg407Cys)	KDM4D (R407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113818	NM_018039.3(KDM4D):c.1194C>A (p.His398Gln)	KDM4D (H398Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113817	NM_018039.3(KDM4D):c.1187G>A (p.Arg396Gln)	KDM4D (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113816	NM_018039.3(KDM4D):c.1175G>A (p.Arg392His)	KDM4D (R392H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113815	NM_018039.3(KDM4D):c.1103G>A (p.Arg368Lys)	KDM4D (R368K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614682	NM_018039.3(KDM4D):c.184A>T (p.Thr62Ser)	KDM4D (T62S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611024	NM_018039.3(KDM4D):c.221C>T (p.Pro74Leu)	KDM4D (P74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605059	NM_018039.3(KDM4D):c.1358G>A (p.Arg453His)	KDM4D (R453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533292	NM_018039.3(KDM4D):c.979A>G (p.Ile327Val)	KDM4D (I327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529797	NM_018039.3(KDM4D):c.199A>G (p.Ser67Gly)	KDM4D (S67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470532	NM_018039.3(KDM4D):c.674G>A (p.Arg225His)	KDM4D (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407418	NM_018039.3(KDM4D):c.1148G>A (p.Arg383Gln)	KDM4D (R383Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370608	NM_018039.3(KDM4D):c.785A>G (p.Asn262Ser)	KDM4D (N262S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370480	NM_018039.3(KDM4D):c.1214T>A (p.Leu405His)	KDM4D (L405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333172	NM_018039.3(KDM4D):c.1226C>A (p.Ser409Tyr)	KDM4D (S409Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324014	NM_018039.3(KDM4D):c.1255C>T (p.Arg419Trp)	KDM4D (R419W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321001	NM_018039.3(KDM4D):c.466C>T (p.His156Tyr)	KDM4D (H156Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313759	NM_018039.3(KDM4D):c.1451C>T (p.Ser484Leu)	KDM4D (S484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276025	NM_018039.3(KDM4D):c.706C>T (p.Arg236Trp)	KDM4D (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236408	NM_018039.3(KDM4D):c.1489T>G (p.Leu497Val)	KDM4D (L497V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218153	NM_018039.3(KDM4D):c.1003C>G (p.Leu335Val)	KDM4D (L335V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214148	NM_018039.3(KDM4D):c.1118G>A (p.Gly373Asp)	KDM4D (G373D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208357	NM_018039.3(KDM4D):c.200G>A (p.Ser67Asn)	KDM4D (S67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1708198	GRCh37/hg19 11q21(chr11:94693565-95725474)x3	CEP57, CWC15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1341209	GRCh37/hg19 11q21(chr11:94681351-95176293)x1	CWC15, ENDOD1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	FDXACB1, FUT4 +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 775298	NM_018039.3(KDM4D):c.1411G>T (p.Ala471Ser)	KDM4D (A471S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775297	NM_018039.3(KDM4D):c.1065C>G (p.Ser355Arg)	KDM4D (S355R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563862	GRCh37/hg19 11q21(chr11:93989761-94819546)x3	KDM4E, PIWIL4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic
Select item 221480	GRCh37/hg19 11q21(chr11:94696615-95528715)x3	CEP57, CWC15 +6 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 145480	GRCh38/hg38 11q21(chr11:94324282-96081666)x3	AMOTL1, ANKRD49 +57 more	Copy number gain	See cases	GUncertain significance
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60