ANXA11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 1679573	Single allele	LOC130004183, LOC130004184 +19 more	Deletion	not provided	GUncertain significance
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 148665	GRCh38/hg38 10q22.3(chr10:79881238-80198984)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 147366	GRCh38/hg38 10q22.3(chr10:79882162-80202422)x1	ANXA11, LOC126860977 +8 more	Copy number loss	See cases	GUncertain significance
Select item 57378	GRCh38/hg38 10q22.3-23.1(chr10:79882162-80327290)x1	ANXA11, LINC00857 +20 more	Copy number loss	See cases	GUncertain significance
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 3039513	NM_145868.2(ANXA11):c.*4G>T	ANXA11	Single nucleotide variant (3 prime UTR variant)	ANXA11-related disorder	GLikely benign
Select item 1437809	NM_145868.2(ANXA11):c.1511A>G (p.Asn504Ser)	ANXA11 (N504S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343335	NM_145868.2(ANXA11):c.1481G>A (p.Arg494Gln)	ANXA11 (R461Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1490682	NM_145868.2(ANXA11):c.1480C>T (p.Arg494Trp)	ANXA11 (R461W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2152084	NM_145868.2(ANXA11):c.1471G>A (p.Gly491Arg)	ANXA11 (G491R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504950	NM_145868.2(ANXA11):c.1469C>A (p.Ser490Ter)	ANXA11 (S457* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2984910	NM_145868.2(ANXA11):c.1459-18C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248519	NM_145868.2(ANXA11):c.1459-122A>G	ANXA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693167	NM_145868.2(ANXA11):c.1458+77C>T	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities	GBenign
Select item 2741085	NM_145868.2(ANXA11):c.1458+7G>A	ANXA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976926	NM_145868.2(ANXA11):c.1458+5G>A	ANXA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1643018	NM_145868.2(ANXA11):c.1458+4C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1366578	NM_145868.2(ANXA11):c.1457C>T (p.Ser486Leu)	ANXA11 (S486L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1413347	NM_145868.2(ANXA11):c.1450G>C (p.Asp484His)	ANXA11 (D484H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931024	NM_145868.2(ANXA11):c.1449C>T (p.His483=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966438	NM_145868.2(ANXA11):c.1443G>A (p.Leu481=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861142	NM_145868.2(ANXA11):c.1433del (p.Gly478fs)	ANXA11 (G478fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1576115	NM_145868.2(ANXA11):c.1425G>A (p.Arg475=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398399	NM_145868.2(ANXA11):c.1424G>A (p.Arg475Gln)	ANXA11 (R442Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1352634	NM_145868.2(ANXA11):c.1423C>T (p.Arg475Trp)	ANXA11 (R442W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869128	NM_145868.2(ANXA11):c.1404C>T (p.Asp468=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954376	NM_145868.2(ANXA11):c.1393G>A (p.Asp465Asn)	ANXA11 (D432N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966979	NM_145868.2(ANXA11):c.1382G>A (p.Arg461His)	ANXA11 (R428H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718544	NM_145868.2(ANXA11):c.1369A>G (p.Ile457Val)	ANXA11 (I457V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1977900	NM_145868.2(ANXA11):c.1365T>G (p.Ile455Met)	ANXA11 (I422M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517001	NM_145868.2(ANXA11):c.1363A>G (p.Ile455Val)	ANXA11 (I422V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933735	NM_145868.2(ANXA11):c.1355G>A (p.Arg452Gln)	ANXA11 (R419Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066173	NM_145868.2(ANXA11):c.1354C>T (p.Arg452Trp)	ANXA11 (R419W +1 more)	Single nucleotide variant (missense variant)	ANXA11-related disorder +1 more	GBenign
Select item 2629797	NM_145868.2(ANXA11):c.1339G>A (p.Ala447Thr)	ANXA11 (A414T +1 more)	Single nucleotide variant (missense variant)	ANXA11-related disorder	GUncertain significance
Select item 1541064	NM_145868.2(ANXA11):c.1336-20C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1693168	NM_145868.2(ANXA11):c.1335+94A>G	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities	GBenign
Select item 1601039	NM_145868.2(ANXA11):c.1335+17T>G	ANXA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244057	NM_145868.2(ANXA11):c.1335+15T>C	ANXA11	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 2989521	NM_145868.2(ANXA11):c.1335+6T>C	ANXA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1941253	NM_145868.2(ANXA11):c.1335+4T>C	ANXA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1421850	NM_145868.2(ANXA11):c.1328C>A (p.Ala443Asp)	ANXA11 (A410D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2822129	NM_145868.2(ANXA11):c.1311G>C (p.Ala437=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577602	NM_145868.2(ANXA11):c.1311G>A (p.Ala437=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2056055	NM_145868.2(ANXA11):c.1302C>G (p.Ala434=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2998363	NM_145868.2(ANXA11):c.1277-18C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238910	NM_145868.2(ANXA11):c.1277-176A>G	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265566	NM_145868.2(ANXA11):c.1276+80G>T	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1983055	NM_145868.2(ANXA11):c.1273G>A (p.Val425Met)	LOC126860977, ANXA11 (V392M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1616853	NM_145868.2(ANXA11):c.1252C>T (p.Leu418=)	ANXA11, LOC126860977	Single nucleotide variant (synonymous variant)	ANXA11-related disorder +1 more	GBenign/Likely benign
Select item 1940076	NM_145868.2(ANXA11):c.1246G>A (p.Gly416Arg)	LOC126860977, ANXA11 (G416R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152600	NM_145868.2(ANXA11):c.1245C>T (p.Ser415=)	ANXA11, LOC126860977	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013011	NM_145868.2(ANXA11):c.1243T>A (p.Ser415Thr)	ANXA11, LOC126860977 (S415T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2600847	NM_145868.2(ANXA11):c.1235G>A (p.Arg412Gln)	ANXA11, LOC126860977 (R379Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1511647	NM_145868.2(ANXA11):c.1234C>T (p.Arg412Trp)	ANXA11, LOC126860977 (R412W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2224566	NM_145868.2(ANXA11):c.1228A>G (p.Ile410Val)	ANXA11, LOC126860977 (I410V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1553007	NM_145868.2(ANXA11):c.1224G>A (p.Lys408=)	ANXA11, LOC126860977	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1979536	NM_145868.2(ANXA11):c.1218T>C (p.Ile406=)	ANXA11, LOC126860977	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278647	NM_145868.2(ANXA11):c.1211G>A (p.Arg404Gln)	ANXA11, LOC126860977 (R371Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985337	NM_145868.2(ANXA11):c.1210C>T (p.Arg404Trp)	ANXA11, LOC126860977 (R404W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1476146	NM_145868.2(ANXA11):c.1205C>T (p.Thr402Ile)	ANXA11, LOC126860977 (T402I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1441333	NM_145868.2(ANXA11):c.1191G>C (p.Glu397Asp)	ANXA11, LOC126860977 (E364D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636672	NM_145868.2(ANXA11):c.1187A>G (p.Asn396Ser)	ANXA11, LOC126860977 (N363S +1 more)	Single nucleotide variant (missense variant)	ANXA11-related disorder	GUncertain significance
Select item 1943703	NM_145868.2(ANXA11):c.1181-3T>A	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1932445	NM_145868.2(ANXA11):c.1181-4A>G	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972889	NM_145868.2(ANXA11):c.1181-6_1181-5delinsTT	LOC126860977, ANXA11	Indel (intron variant)	not provided	GUncertain significance
Select item 1221404	NM_145868.2(ANXA11):c.1181-5C>T	ANXA11, LOC126860977	Single nucleotide variant (intron variant)	Inclusion body myopathy and brain white matter abnormalities +1 more	GBenign
Select item 2960185	NM_145868.2(ANXA11):c.1181-9dup	ANXA11, LOC126860977	Duplication (intron variant)	not provided	GLikely benign
Select item 1270001	NM_145868.2(ANXA11):c.1180+138A>G	ANXA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1976207	NM_145868.2(ANXA11):c.1180+11C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997370	NM_145868.2(ANXA11):c.1180+7C>T	ANXA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1492299	NM_145868.2(ANXA11):c.1180+5G>A	ANXA11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1394853	NM_145868.2(ANXA11):c.1169A>C (p.His390Pro)	ANXA11 (H357P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375804	NM_145868.2(ANXA11):c.1168C>T (p.His390Tyr)	ANXA11 (H357Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1558854	NM_145868.2(ANXA11):c.1167C>T (p.Ala389=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394193	NM_145868.2(ANXA11):c.1166C>T (p.Ala389Val)	ANXA11 (A356V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542441	NM_145868.2(ANXA11):c.1164G>A (p.Arg388=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993813	NM_145868.2(ANXA11):c.1163G>A (p.Arg388Gln)	ANXA11 (R355Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1415559	NM_145868.2(ANXA11):c.1162C>T (p.Arg388Trp)	ANXA11 (R355W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1615454	NM_145868.2(ANXA11):c.1156C>T (p.Arg386Trp)	ANXA11 (R353W +1 more)	Single nucleotide variant (missense variant)	ANXA11-related disorder +1 more	GBenign/Likely benign
Select item 2808629	NM_145868.2(ANXA11):c.1149G>T (p.Leu383=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057000	NM_145868.2(ANXA11):c.1147C>A (p.Leu383Met)	ANXA11 (L350M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1575625	NM_145868.2(ANXA11):c.1143G>A (p.Ala381=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432199	NM_145868.2(ANXA11):c.1131dup (p.Lys378fs)	ANXA11 (K345fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1585692	NM_145868.2(ANXA11):c.1131C>G (p.Ser377=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986170	NM_145868.2(ANXA11):c.1119A>G (p.Gly373=)	ANXA11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721328	NM_145868.2(ANXA11):c.1112G>A (p.Arg371His)	ANXA11 (R338H +1 more)	Single nucleotide variant (missense variant)	ANXA11-related disorder +1 more	GLikely benign
Select item 1970974	NM_145868.2(ANXA11):c.1111C>T (p.Arg371Cys)	ANXA11 (R338C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 716667	NM_145868.2(ANXA11):c.1105G>A (p.Glu369Lys)	ANXA11 (E369K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1416254	NM_145868.2(ANXA11):c.1102G>A (p.Gly368Arg)	ANXA11 (G335R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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