ABTB2[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2304847	NM_145804.3(ABTB2):c.3061A>G (p.Ile1021Val)	ABTB2 (I1021V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331948	NM_145804.3(ABTB2):c.3022C>G (p.Leu1008Val)	ABTB2 (L1008V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133071	NM_145804.3(ABTB2):c.2983C>T (p.Arg995Cys)	ABTB2 (R995C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609305	NM_145804.3(ABTB2):c.2969A>C (p.Gln990Pro)	ABTB2 (Q990P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252205	NM_145804.3(ABTB2):c.2966G>A (p.Arg989Gln)	ABTB2 (R989Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133066	NM_145804.3(ABTB2):c.2956G>A (p.Asp986Asn)	ABTB2 (D986N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133062	NM_145804.3(ABTB2):c.2916G>C (p.Glu972Asp)	ABTB2 (E972D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133059	NM_145804.3(ABTB2):c.2857G>A (p.Val953Met)	ABTB2 (V953M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346206	NM_145804.3(ABTB2):c.2847G>A (p.Met949Ile)	ABTB2 (M949I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133057	NM_145804.3(ABTB2):c.2827T>C (p.Cys943Arg)	ABTB2 (C943R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263944	NM_145804.3(ABTB2):c.2665G>A (p.Glu889Lys)	ABTB2 (E889K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256905	NM_145804.3(ABTB2):c.2590G>A (p.Val864Met)	ABTB2 (V864M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619902	NM_145804.3(ABTB2):c.2545T>C (p.Phe849Leu)	ABTB2 (F849L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508381	NM_145804.3(ABTB2):c.2492C>T (p.Pro831Leu)	ABTB2 (P831L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216008	NM_145804.3(ABTB2):c.2480G>A (p.Arg827Gln)	ABTB2 (R827Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363012	NM_145804.3(ABTB2):c.2479C>T (p.Arg827Trp)	ABTB2 (R827W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558570	NM_145804.3(ABTB2):c.2462C>G (p.Pro821Arg)	ABTB2 (P821R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274085	NM_145804.3(ABTB2):c.2450G>C (p.Ser817Thr)	ABTB2 (S817T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275508	NM_145804.3(ABTB2):c.2407G>A (p.Val803Ile)	ABTB2 (V803I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280906	NM_145804.3(ABTB2):c.2390C>A (p.Thr797Asn)	ABTB2 (T797N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410785	NM_145804.3(ABTB2):c.2386A>C (p.Lys796Gln)	ABTB2 (K796Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326916	NM_145804.3(ABTB2):c.2248G>A (p.Glu750Lys)	ABTB2 (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133007	NM_145804.3(ABTB2):c.2222T>C (p.Val741Ala)	ABTB2 (V741A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 2378303	NM_145804.3(ABTB2):c.2213C>G (p.Ala738Gly)	ABTB2 (A738G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375235	NM_145804.3(ABTB2):c.2188G>A (p.Val730Met)	ABTB2 (V730M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593668	NM_145804.3(ABTB2):c.2168A>T (p.Tyr723Phe)	ABTB2 (Y723F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132991	NM_145804.3(ABTB2):c.2162T>C (p.Met721Thr)	ABTB2 (M721T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456710	NM_145804.3(ABTB2):c.2138G>A (p.Arg713His)	ABTB2 (R713H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299387	NM_145804.3(ABTB2):c.2119G>A (p.Val707Met)	ABTB2 (V707M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217892	NM_145804.3(ABTB2):c.2119G>C (p.Val707Leu)	ABTB2 (V707L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607202	NM_145804.3(ABTB2):c.2110G>A (p.Glu704Lys)	ABTB2 (E704K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282658	NM_145804.3(ABTB2):c.2041C>A (p.Leu681Met)	ABTB2 (L681M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217496	NM_145804.3(ABTB2):c.2033C>T (p.Ala678Val)	ABTB2 (A678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520463	NM_145804.3(ABTB2):c.1993G>A (p.Val665Ile)	ABTB2 (V665I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132969	NM_145804.3(ABTB2):c.1934C>T (p.Ser645Phe)	ABTB2 (S645F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132959	NM_145804.3(ABTB2):c.1804G>A (p.Gly602Ser)	ABTB2 (G602S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337780	NM_145804.3(ABTB2):c.1787G>A (p.Gly596Asp)	ABTB2 (G596D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616334	NM_145804.3(ABTB2):c.1690C>T (p.Pro564Ser)	ABTB2 (P564S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510183	NM_145804.3(ABTB2):c.1684A>G (p.Ile562Val)	ABTB2 (I562V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315811	NM_145804.3(ABTB2):c.1657C>T (p.Pro553Ser)	ABTB2 (P553S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331524	NM_145804.3(ABTB2):c.1591G>A (p.Ala531Thr)	ABTB2 (A531T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132935	NM_145804.3(ABTB2):c.1573C>A (p.Pro525Thr)	ABTB2 (P525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 2525065	NM_145804.3(ABTB2):c.1557T>G (p.Asp519Glu)	ABTB2 (D519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132926	NM_145804.3(ABTB2):c.1462C>G (p.Gln488Glu)	ABTB2 (Q488E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280221	NM_145804.3(ABTB2):c.1428G>T (p.Arg476Ser)	ABTB2 (R476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614778	NM_145804.3(ABTB2):c.1423C>T (p.Arg475Trp)	ABTB2 (R475W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536672	NM_145804.3(ABTB2):c.1394T>C (p.Leu465Pro)	ABTB2 (L465P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411670	NM_145804.3(ABTB2):c.1388G>A (p.Arg463Gln)	ABTB2 (R463Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132915	NM_145804.3(ABTB2):c.1324G>A (p.Val442Met)	ABTB2 (V442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484614	NM_145804.3(ABTB2):c.1315A>G (p.Ser439Gly)	ABTB2 (S439G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203942	NM_145804.3(ABTB2):c.1313G>A (p.Arg438His)	ABTB2 (R438H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544661	NM_145804.3(ABTB2):c.1292T>C (p.Ile431Thr)	ABTB2 (I431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132903	NM_145804.3(ABTB2):c.1216C>A (p.Pro406Thr)	ABTB2 (P406T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290079	NM_145804.3(ABTB2):c.1204C>T (p.Pro402Ser)	ABTB2 (P402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488439	NM_145804.3(ABTB2):c.1178G>A (p.Cys393Tyr)	ABTB2 (C393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132893	NM_145804.3(ABTB2):c.1166A>T (p.Tyr389Phe)	ABTB2 (Y389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301013	NM_145804.3(ABTB2):c.1165T>G (p.Tyr389Asp)	ABTB2 (Y389D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532274	NM_145804.3(ABTB2):c.1115A>G (p.Gln372Arg)	ABTB2 (Q372R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334578	NM_145804.3(ABTB2):c.1103G>T (p.Arg368Leu)	ABTB2 (R368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250905	NM_145804.3(ABTB2):c.1103G>A (p.Arg368His)	ABTB2 (R368H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297251	NM_145804.3(ABTB2):c.1102C>T (p.Arg368Cys)	ABTB2 (R368C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490322	NM_145804.3(ABTB2):c.1069C>T (p.Arg357Cys)	ABTB2 (R357C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299388	NM_145804.3(ABTB2):c.901G>C (p.Ala301Pro)	ABTB2 (A301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133107	NM_145804.3(ABTB2):c.769G>A (p.Ala257Thr)	ABTB2 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133099	NM_145804.3(ABTB2):c.703A>G (p.Met235Val)	ABTB2 (M235V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320560	NM_145804.3(ABTB2):c.650C>T (p.Thr217Ile)	ABTB2 (T217I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238301	NM_145804.3(ABTB2):c.635G>T (p.Arg212Leu)	ABTB2, LOC130005540 (R212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614232	NM_145804.3(ABTB2):c.527T>A (p.Leu176Gln)	ABTB2 (L176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133092	NM_145804.3(ABTB2):c.493G>C (p.Val165Leu)	ABTB2 (V165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519981	NM_145804.3(ABTB2):c.470A>G (p.Glu157Gly)	ABTB2 (E157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411077	NM_145804.3(ABTB2):c.394C>T (p.Leu132Phe)	ABTB2 (L132F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490118	NM_145804.3(ABTB2):c.329A>G (p.Lys110Arg)	ABTB2 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253674	NM_145804.3(ABTB2):c.240A>T (p.Glu80Asp)	ABTB2 (E80D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132965	NM_145804.3(ABTB2):c.190C>T (p.Arg64Cys)	ABTB2 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133112	NM_145804.3(ABTB2):c.83G>C (p.Arg28Pro)	ABTB2 (R28P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233398	NM_145804.3(ABTB2):c.71G>A (p.Gly24Glu)	ABTB2 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684639	GRCh37/hg19 11p13(chr11:34251536-34618202)x3	ABTB2, CAT +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815425	GRCh37/hg19 11p13(chr11:33221821-34569417)x1	ELF5, FBXO3 +9 more	Copy number loss	not provided	GUncertain significance
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 563865	GRCh37/hg19 11p13(chr11:33297483-34359612)x3	LMO2, HIPK3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic

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Items: 99