ANKLE2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1230593	NM_015114.3(ANKLE2):c.*225G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226830	NM_015114.3(ANKLE2):c.*211T>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2507210	NM_015114.3(ANKLE2):c.*117G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3036132	NM_015114.3(ANKLE2):c.*8G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	ANKLE2-related disorder	GLikely benign
Select item 755265	NM_015114.3(ANKLE2):c.2809G>A (p.Ala937Thr)	ANKLE2 (A937T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 731799	NM_015114.3(ANKLE2):c.2808C>T (p.Ala936=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder +1 more	GLikely benign
Select item 3121676	NM_015114.3(ANKLE2):c.2804T>G (p.Leu935Arg)	ANKLE2 (L935R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381091	NM_015114.3(ANKLE2):c.2780G>A (p.Arg927His)	ANKLE2 (R927H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354885	NM_015114.3(ANKLE2):c.2761G>A (p.Val921Met)	ANKLE2 (V921M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055782	NM_015114.3(ANKLE2):c.2730A>G (p.Pro910=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 1341648	NM_015114.3(ANKLE2):c.2681G>A (p.Ser894Asn)	ANKLE2 (S894N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1098724	NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala)	ANKLE2 (G891A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3121663	NM_015114.3(ANKLE2):c.2659C>T (p.Pro887Ser)	ANKLE2 (P887S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483669	NM_015114.3(ANKLE2):c.2643G>T (p.Arg881Ser)	ANKLE2 (R881S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230345	NM_015114.3(ANKLE2):c.2616-4G>A	ANKLE2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1257867	NM_015114.3(ANKLE2):c.2616-97C>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289205	NM_015114.3(ANKLE2):c.2616-117del	ANKLE2	Deletion (intron variant)	not provided	GBenign
Select item 1253390	NM_015114.3(ANKLE2):c.2616-117G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275725	NM_015114.3(ANKLE2):c.2616-138C>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240707	NM_015114.3(ANKLE2):c.2616-144G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239443	NM_015114.3(ANKLE2):c.2616-145T>C	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271452	NM_015114.3(ANKLE2):c.2616-153C>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195706	NM_015114.3(ANKLE2):c.2616-154_2616-153insTCCGGGCGCGTGTGCCCACGGTGCCAGGGTTCAGCAGTGCCTCTCCTCCG	ANKLE2	Insertion (intron variant)	not provided	GLikely benign
Select item 1282215	NM_015114.3(ANKLE2):c.2616-154A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265085	NM_015114.3(ANKLE2):c.2616-158T>C	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272658	NM_015114.3(ANKLE2):c.2616-163G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287039	NM_015114.3(ANKLE2):c.2616-194G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211663	NM_015114.3(ANKLE2):c.2616-207_2616-205del	ANKLE2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2443912	NM_015114.3(ANKLE2):c.1891+1701_2615+14delinsA	ANKLE2	Indel (splice acceptor variant +1 more)	Microcephaly 16, primary, autosomal recessive	GPathogenic
Select item 1287550	NM_015114.3(ANKLE2):c.2615+14G>A	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2491738	NM_015114.3(ANKLE2):c.2603C>T (p.Ser868Leu)	ANKLE2 (S868L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410122	NM_015114.3(ANKLE2):c.2579G>C (p.Ser860Thr)	ANKLE2 (S860T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464213	NM_015114.3(ANKLE2):c.2567A>G (p.His856Arg)	ANKLE2 (H856R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720959	NM_015114.3(ANKLE2):c.2539G>A (p.Val847Ile)	ANKLE2 (V847I)	Single nucleotide variant (missense variant)	ANKLE2-related disorder +2 more	GBenign/Likely benign
Select item 737629	NM_015114.3(ANKLE2):c.2502C>T (p.Leu834=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1197786	NM_015114.3(ANKLE2):c.2484-128C>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243753	NM_015114.3(ANKLE2):c.2484-142A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194665	NM_015114.3(ANKLE2):c.2483+40A>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245654	NM_015114.3(ANKLE2):c.2483+28C>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030463	NM_015114.3(ANKLE2):c.2467C>T (p.Arg823Trp)	ANKLE2 (R823W)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive	GUncertain significance
Select item 721623	NM_015114.3(ANKLE2):c.2460G>A (p.Pro820=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510753	NM_015114.3(ANKLE2):c.2453G>C (p.Arg818Thr)	ANKLE2 (R818T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713001	NM_015114.3(ANKLE2):c.2394C>T (p.Ile798=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3121635	NM_015114.3(ANKLE2):c.2362A>G (p.Arg788Gly)	ANKLE2 (R788G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 218245	NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter)	ANKLE2 (Q782*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 728778	NM_015114.3(ANKLE2):c.2292T>C (p.Thr764=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1327768	NM_015114.3(ANKLE2):c.2260G>T (p.Glu754Ter)	ANKLE2 (E754*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3121630	NM_015114.3(ANKLE2):c.2236C>T (p.Arg746Cys)	ANKLE2 (R746C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247002	NM_015114.3(ANKLE2):c.2219A>T (p.Asn740Ile)	ANKLE2 (N740I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713427	NM_015114.3(ANKLE2):c.2190G>A (p.Ser730=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3033904	NM_015114.3(ANKLE2):c.2189C>T (p.Ser730Leu)	ANKLE2 (S730L)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 1192433	NM_015114.3(ANKLE2):c.2159G>A (p.Arg720His)	ANKLE2 (R720H)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign
Select item 2545462	NM_015114.3(ANKLE2):c.2158C>T (p.Arg720Cys)	ANKLE2 (R720C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356166	NM_015114.3(ANKLE2):c.2155C>A (p.Pro719Thr)	ANKLE2 (P719T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 747922	NM_015114.3(ANKLE2):c.2154C>T (p.Ala718=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3061493	NM_015114.3(ANKLE2):c.2136G>A (p.Ala712=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3044232	NM_015114.3(ANKLE2):c.2100G>A (p.Gly700=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 2375460	NM_015114.3(ANKLE2):c.2077G>A (p.Gly693Ser)	ANKLE2 (G693S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2350555	NM_015114.3(ANKLE2):c.2072C>T (p.Pro691Leu)	ANKLE2 (P691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2515276	NM_015114.3(ANKLE2):c.2065G>A (p.Ala689Thr)	ANKLE2 (A689T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710856	NM_015114.3(ANKLE2):c.2064C>T (p.Ala688=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1098725	NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys)	ANKLE2 (E680K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2588600	NM_015114.3(ANKLE2):c.2015C>T (p.Thr672Met)	ANKLE2 (T672M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054584	NM_015114.3(ANKLE2):c.2011C>T (p.His671Tyr)	ANKLE2 (H671Y)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 2219439	NM_015114.3(ANKLE2):c.1999G>A (p.Gly667Ser)	ANKLE2 (G667S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048920	NM_015114.3(ANKLE2):c.1992C>G (p.Pro664=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 2484463	NM_015114.3(ANKLE2):c.1988C>A (p.Pro663Gln)	ANKLE2 (P663Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 789056	NM_015114.3(ANKLE2):c.1986C>T (p.Ser662=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1305914	NM_015114.3(ANKLE2):c.1979A>T (p.Asn660Ile)	ANKLE2 (N660I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2623186	NM_015114.3(ANKLE2):c.1978A>G (p.Asn660Asp)	ANKLE2 (N660D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257793	NM_015114.3(ANKLE2):c.1968T>C (p.Asn656=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730329	NM_015114.3(ANKLE2):c.1961G>A (p.Arg654Gln)	ANKLE2 (R654Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3121603	NM_015114.3(ANKLE2):c.1958A>G (p.Asn653Ser)	ANKLE2 (N653S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1188633	NM_015114.3(ANKLE2):c.1940G>A (p.Ser647Asn)	ANKLE2 (S647N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3121598	NM_015114.3(ANKLE2):c.1916C>T (p.Ala639Val)	ANKLE2 (A639V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790867	NM_015114.3(ANKLE2):c.1894A>C (p.Ser632Arg)	ANKLE2 (S632R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3051107	NM_015114.3(ANKLE2):c.1892-11_1892-9del	ANKLE2	Microsatellite (intron variant)	ANKLE2-related disorder	GLikely benign
Select item 802911	NM_015114.3(ANKLE2):c.1892-127_1892-65del	ANKLE2	Deletion (intron variant)	Microcephaly 16, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 1278371	NM_015114.3(ANKLE2):c.1892-71T>C	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249422	NM_015114.3(ANKLE2):c.1892-72A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273448	NM_015114.3(ANKLE2):c.1892-135_1892-73del	ANKLE2	Deletion (intron variant)	not provided	GBenign
Select item 1192831	NM_015114.3(ANKLE2):c.1891+187A>G	ANKLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194625	NM_015114.3(ANKLE2):c.1891+145C>T	ANKLE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192434	NM_015114.3(ANKLE2):c.1891+84G>A	ANKLE2	Single nucleotide variant (intron variant)	Microcephaly 16, primary, autosomal recessive +1 more	GBenign
Select item 2287019	NM_015114.3(ANKLE2):c.1886C>T (p.Thr629Met)	ANKLE2 (T629M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 739769	NM_015114.3(ANKLE2):c.1874A>T (p.Asp625Val)	ANKLE2 (D625V)	Single nucleotide variant (missense variant)	ANKLE2-related disorder +2 more	GLikely benign
Select item 930179	NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)	ANKLE2 (R624*)	Single nucleotide variant (nonsense)	Microcephaly 16, primary, autosomal recessive +3 more	GPathogenic
Select item 1302122	NM_015114.3(ANKLE2):c.1819G>A (p.Glu607Lys)	ANKLE2 (E607K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726993	NM_015114.3(ANKLE2):c.1807C>T (p.Leu603Phe)	ANKLE2 (L603F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331590	NM_015114.3(ANKLE2):c.1727C>A (p.Pro576His)	ANKLE2 (P576H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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