ClinVar for Gene (Select 10873) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3293912	NM_001161586.3(ME3):c.468T>C (p.Arg156=)	ME3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3293911	NM_001161586.3(ME3):c.1159G>A (p.Glu387Lys)	ME3 (E387K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293910	NM_001161586.3(ME3):c.518A>G (p.Asn173Ser)	ME3 (N173S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293909	NM_001161586.3(ME3):c.724C>G (p.Leu242Val)	ME3 (L242V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293908	NM_001161586.3(ME3):c.751G>A (p.Val251Met)	ME3 (V251M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124768	NM_001161586.3(ME3):c.746A>C (p.Gln249Pro)	ME3 (Q249P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124767	NM_001161586.3(ME3):c.28C>T (p.Arg10Trp)	ME3 (R10W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124765	NM_001161586.3(ME3):c.112C>T (p.Pro38Ser)	ME3 (P38S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124764	NM_001161586.3(ME3):c.1073C>T (p.Pro358Leu)	ME3 (P358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124763	NM_001161586.3(ME3):c.1042C>T (p.Leu348Phe)	ME3 (L348F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684651	GRCh37/hg19 11q14.2(chr11:86059790-86278534)x3	CCDC81, ME3	Copy number gain	not provided	GUncertain significance
Select item 2623085	NM_001161586.3(ME3):c.61G>A (p.Ala21Thr)	ME3 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619247	NM_001161586.3(ME3):c.1015G>A (p.Glu339Lys)	ME3 (E339K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599069	NM_001161586.3(ME3):c.1300G>A (p.Glu434Lys)	ME3 (E434K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533064	NM_001161586.3(ME3):c.1557A>T (p.Gln519His)	LOC126861285, ME3 (Q519H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527022	NM_001161586.3(ME3):c.1211G>T (p.Arg404Met)	ME3 (R404M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523433	NM_001161586.3(ME3):c.659C>T (p.Pro220Leu)	ME3 (P220L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513727	NM_001161586.3(ME3):c.866G>A (p.Arg289His)	ME3 (R289H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472969	NM_001161586.3(ME3):c.851A>G (p.Asn284Ser)	ME3 (N284S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2381794	NM_001161586.3(ME3):c.513G>A (p.Met171Ile)	ME3 (M171I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350709	NM_001161586.3(ME3):c.1660G>A (p.Asp554Asn)	ME3 (D554N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2342312	NM_001161586.3(ME3):c.1625G>A (p.Arg542Gln)	LOC126861285, ME3 (R542Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336914	NM_001161586.3(ME3):c.1463A>C (p.Asn488Thr)	ME3 (N488T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314511	NM_001161586.3(ME3):c.1352C>T (p.Thr451Met)	ME3 (T451M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305992	NM_001161586.3(ME3):c.1265C>T (p.Thr422Met)	ME3 (T422M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276610	NM_001161586.3(ME3):c.533A>G (p.Asp178Gly)	ME3 (D178G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266248	NM_001161586.3(ME3):c.497G>A (p.Gly166Asp)	ME3 (G166D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262276	NM_001161586.3(ME3):c.86C>A (p.Ala29Glu)	ME3 (A29E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258755	NM_001161586.3(ME3):c.351C>A (p.Asn117Lys)	ME3 (N117K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220511	NM_001161586.3(ME3):c.1057G>C (p.Glu353Gln)	ME3 (E353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211250	NM_001161586.3(ME3):c.962G>A (p.Arg321Gln)	ME3 (R321Q)	Single nucleotide variant (missense variant +1 more)	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 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527658	GRCh37/hg19 11q14.2(chr11:86217857-86429093)	ME3	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
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 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815451	GRCh37/hg19 11q14.2(chr11:86217857-86429093)x1	ME3	Copy number loss	not provided	GLikely benign
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 720604	NM_001161586.3(ME3):c.682C>T (p.Leu228=)	ME3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
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 563851	GRCh37/hg19 11q14.2(chr11:85689406-86208902)x3	PICALM, CCDC81 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
Select item 443004	GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3	CCDC81, CCDC83 +8 more	Copy number gain	See cases	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 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +51 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 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
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Germline classification

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Molecular consequence

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Links from Gene

Items: 59