ANKRD12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC125368546, LOC125368547 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	LOC130062178, LOC130062179 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 58752	GRCh38/hg38 18p11.23-11.22(chr18:7542605-9320894)x3	ANKRD12, GACAT2 +39 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	ABHD3, AFG3L2 +322 more	Copy number gain	See cases	GPathogenic
Select item 150127	GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3	ANKRD12, LOC130062140 +20 more	Copy number gain	See cases	GUncertain significance
Select item 2632650	NM_015208.5(ANKRD12):c.64G>T (p.Val22Leu)	ANKRD12 (V22L)	Single nucleotide variant (missense variant)	ANKRD12-related condition	GUncertain significance
Select item 2339707	NM_015208.5(ANKRD12):c.86A>C (p.Lys29Thr)	ANKRD12 (K29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474700	NM_015208.5(ANKRD12):c.92A>G (p.Lys31Arg)	ANKRD12 (K31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399737	NM_015208.5(ANKRD12):c.154A>G (p.Met52Val)	ANKRD12 (M52V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486911	NM_015208.5(ANKRD12):c.250C>T (p.His84Tyr)	ANKRD12 (H84Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388100	NM_015208.5(ANKRD12):c.264T>G (p.Asn88Lys)	ANKRD12 (N88K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257131	NM_015208.5(ANKRD12):c.336A>C (p.Lys112Asn)	ANKRD12 (K112N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375691	NM_015208.5(ANKRD12):c.370A>G (p.Ser124Gly)	ANKRD12 (S124G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636230	NM_015208.5(ANKRD12):c.877A>G (p.Thr293Ala)	ANKRD12 (T270A +1 more)	Single nucleotide variant (missense variant)	ANKRD12-related condition	GUncertain significance
Select item 2360812	NM_015208.5(ANKRD12):c.971C>T (p.Pro324Leu)	ANKRD12 (P324L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337372	NM_015208.5(ANKRD12):c.1246C>A (p.Gln416Lys)	ANKRD12 (Q393K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483910	NM_015208.5(ANKRD12):c.1379A>G (p.Tyr460Cys)	ANKRD12 (Y460C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554226	NM_015208.5(ANKRD12):c.1559A>G (p.Asn520Ser)	ANKRD12 (N520S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284763	NM_015208.5(ANKRD12):c.1565G>A (p.Arg522Lys)	ANKRD12 (R522K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338068	NM_015208.5(ANKRD12):c.1570T>A (p.Ser524Thr)	ANKRD12 (S524T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363264	NM_015208.5(ANKRD12):c.1571C>G (p.Ser524Cys)	ANKRD12 (S501C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360862	NM_015208.5(ANKRD12):c.1610A>G (p.His537Arg)	ANKRD12 (H537R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557078	NM_015208.5(ANKRD12):c.1619C>T (p.Thr540Ile)	ANKRD12 (T540I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489939	NM_015208.5(ANKRD12):c.1736A>T (p.Asp579Val)	ANKRD12 (D579V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320657	NM_015208.5(ANKRD12):c.1738C>A (p.Leu580Ile)	ANKRD12 (L557I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314485	NM_015208.5(ANKRD12):c.1757C>G (p.Thr586Arg)	ANKRD12 (T563R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648564	NM_015208.5(ANKRD12):c.1816A>G (p.Ser606Gly)	ANKRD12 (S583G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2270960	NM_015208.5(ANKRD12):c.1823A>T (p.His608Leu)	ANKRD12 (H608L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371012	NM_015208.5(ANKRD12):c.2018A>C (p.Lys673Thr)	ANKRD12 (K650T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203880	NM_015208.5(ANKRD12):c.2036A>G (p.Lys679Arg)	ANKRD12 (K679R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2281442	NM_015208.5(ANKRD12):c.2048A>G (p.Lys683Arg)	ANKRD12 (K660R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477491	NM_015208.5(ANKRD12):c.2050G>C (p.Glu684Gln)	ANKRD12 (E661Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2630518	NM_015208.5(ANKRD12):c.2186del (p.Asn729fs)	ANKRD12 (N706fs +1 more)	Deletion (frameshift variant)	ANKRD12-related condition	GUncertain significance
Select item 2377587	NM_015208.5(ANKRD12):c.2186A>C (p.Asn729Thr)	ANKRD12 (N706T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515173	NM_015208.5(ANKRD12):c.2234G>A (p.Arg745Lys)	ANKRD12 (R722K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603349	NM_015208.5(ANKRD12):c.2329A>G (p.Ile777Val)	ANKRD12 (I754V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2266432	NM_015208.5(ANKRD12):c.2363T>G (p.Leu788Trp)	ANKRD12 (L788W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 219339	NM_015208.5(ANKRD12):c.2593G>T (p.Asp865Tyr)	ANKRD12 (D842Y +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 931765	NM_015208.5(ANKRD12):c.2600_2604del (p.Ile867fs)	ANKRD12 (I844fs +1 more)	Microsatellite (frameshift variant)	See cases	GUncertain significance
Select item 2370289	NM_015208.5(ANKRD12):c.2663G>A (p.Ser888Asn)	ANKRD12 (S865N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306777	NM_015208.5(ANKRD12):c.2698A>G (p.Arg900Gly)	ANKRD12 (R900G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380827	NM_015208.5(ANKRD12):c.2746C>T (p.Pro916Ser)	ANKRD12 (P916S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305781	NM_015208.5(ANKRD12):c.2797A>G (p.Lys933Glu)	ANKRD12 (K910E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210350	NM_015208.5(ANKRD12):c.2819A>G (p.Asn940Ser)	ANKRD12 (N917S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629600	NM_015208.5(ANKRD12):c.2897A>C (p.Asp966Ala)	ANKRD12 (D943A +1 more)	Single nucleotide variant (missense variant)	ANKRD12-related condition	GUncertain significance
Select item 3040962	NM_015208.5(ANKRD12):c.2924C>A (p.Ser975Tyr)	ANKRD12 (S952Y +1 more)	Single nucleotide variant (missense variant)	ANKRD12-related condition	GLikely benign
Select item 2392314	NM_015208.5(ANKRD12):c.2951C>T (p.Ser984Leu)	ANKRD12 (S984L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375584	NM_015208.5(ANKRD12):c.3034C>A (p.Pro1012Thr)	ANKRD12 (P1012T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459622	NM_015208.5(ANKRD12):c.3140C>A (p.Ser1047Tyr)	ANKRD12 (S1024Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336618	NM_015208.5(ANKRD12):c.3145G>A (p.Ala1049Thr)	ANKRD12 (A1049T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322613	NM_015208.5(ANKRD12):c.3236G>A (p.Ser1079Asn)	ANKRD12 (S1056N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624310	NM_015208.5(ANKRD12):c.3292C>T (p.His1098Tyr)	ANKRD12 (H1075Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459623	NM_015208.5(ANKRD12):c.3352C>T (p.Leu1118Phe)	ANKRD12 (L1095F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326803	NM_015208.5(ANKRD12):c.3491C>T (p.Ser1164Leu)	ANKRD12 (S1141L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211315	NM_015208.5(ANKRD12):c.3524T>C (p.Leu1175Ser)	ANKRD12 (L1175S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535804	NM_015208.5(ANKRD12):c.3532T>G (p.Ser1178Ala)	ANKRD12 (S1178A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343017	NM_015208.5(ANKRD12):c.3919G>A (p.Val1307Ile)	ANKRD12 (V1284I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260212	NM_015208.5(ANKRD12):c.3958A>G (p.Thr1320Ala)	ANKRD12 (T1320A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508129	NM_015208.5(ANKRD12):c.3967T>C (p.Phe1323Leu)	ANKRD12 (F1300L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221594	NM_015208.5(ANKRD12):c.4081A>G (p.Asn1361Asp)	ANKRD12 (N1361D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362973	NM_015208.5(ANKRD12):c.4084G>T (p.Val1362Leu)	ANKRD12 (V1362L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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