ANXA1[gene] - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144150	GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1	ABHD17B, ALDH1A1 +148 more	Copy number loss	See cases	GPathogenic
Select item 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 784647	NM_000700.3(ANXA1):c.105G>T (p.Ala35=)	ANXA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3127253	NM_000700.3(ANXA1):c.127A>T (p.Asn43Tyr)	ANXA1 (N43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044249	NM_000700.3(ANXA1):c.176-7T>C	ANXA1	Single nucleotide variant (intron variant)	ANXA1-related disorder	GBenign
Select item 587539	NM_000700.3(ANXA1):c.209_212del (p.Thr70fs)	ANXA1 (T70fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2528144	NM_000700.3(ANXA1):c.230G>A (p.Arg77His)	ANXA1 (R77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045489	NM_000700.3(ANXA1):c.271-5del	ANXA1	Deletion (intron variant)	ANXA1-related disorder	GLikely benign
Select item 774674	NM_000700.3(ANXA1):c.271-4G>T	ANXA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3127254	NM_000700.3(ANXA1):c.278A>T (p.Asp93Val)	ANXA1 (D93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233003	NM_000700.3(ANXA1):c.287T>G (p.Leu96Arg)	ANXA1 (L96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550159	NM_000700.3(ANXA1):c.308A>G (p.His103Arg)	ANXA1 (H103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127255	NM_000700.3(ANXA1):c.379A>T (p.Met127Leu)	ANXA1 (M127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038691	NM_000700.3(ANXA1):c.384+7C>T	ANXA1	Single nucleotide variant (intron variant)	ANXA1-related disorder	GBenign
Select item 2276230	NM_000700.3(ANXA1):c.394A>G (p.Thr132Ala)	ANXA1 (T132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299445	NM_000700.3(ANXA1):c.413T>C (p.Ile138Thr)	ANXA1 (I138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299436	NM_000700.3(ANXA1):c.450A>T (p.Arg150Ser)	ANXA1 (R150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288140	NM_000700.3(ANXA1):c.506C>G (p.Thr169Ser)	ANXA1 (T169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127256	NM_000700.3(ANXA1):c.515C>T (p.Thr172Ile)	ANXA1 (T172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275153	NM_000700.3(ANXA1):c.580G>A (p.Val194Met)	ANXA1 (V194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768303	NM_000700.3(ANXA1):c.612+3A>G	ANXA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 748693	NM_000700.3(ANXA1):c.613-5G>T	ANXA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774466	NM_000700.3(ANXA1):c.636G>A (p.Arg212=)	ANXA1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2546111	NM_000700.3(ANXA1):c.642G>T (p.Lys214Asn)	ANXA1 (K214N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474701	NM_000700.3(ANXA1):c.643G>A (p.Gly215Arg)	ANXA1 (G215R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409295	NM_000700.3(ANXA1):c.647C>G (p.Thr216Arg)	ANXA1 (T216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032144	NM_000700.3(ANXA1):c.657C>T (p.Asn219=)	ANXA1	Single nucleotide variant (synonymous variant)	ANXA1-related disorder	GLikely benign
Select item 3040889	NM_000700.3(ANXA1):c.668C>A (p.Thr223Asn)	ANXA1 (T223N)	Single nucleotide variant (missense variant)	ANXA1-related disorder	GBenign
Select item 2632457	NM_000700.3(ANXA1):c.683G>A (p.Arg228Lys)	ANXA1 (R228K)	Single nucleotide variant (missense variant)	ANXA1-related disorder	GUncertain significance
Select item 3127257	NM_000700.3(ANXA1):c.700C>T (p.Arg234Cys)	ANXA1 (R234C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342632	NC_000009.12:g.73165555_73173279dup	ANXA1	Duplication	Autism	GUncertain significance
Select item 2322835	NM_000700.3(ANXA1):c.722C>A (p.Thr241Asn)	ANXA1 (T241N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293936	NM_000700.3(ANXA1):c.809G>A (p.Cys270Tyr)	ANXA1 (C270Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3354223	NM_000700.3(ANXA1):c.823C>T (p.Pro275Ser)	ANXA1 (P275S)	Single nucleotide variant (missense variant)	ANXA1-related disorder	GUncertain significance
Select item 2475995	NM_000700.3(ANXA1):c.835G>T (p.Ala279Ser)	ANXA1 (A279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738641	NM_000700.3(ANXA1):c.861+10A>G	ANXA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2374967	NM_000700.3(ANXA1):c.886T>A (p.Leu296Met)	ANXA1 (L296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601104	NM_000700.3(ANXA1):c.889A>C (p.Ile297Leu)	ANXA1 (I297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299429	NM_000700.3(ANXA1):c.917T>C (p.Ile306Thr)	ANXA1 (I306T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127258	NM_000700.3(ANXA1):c.974A>T (p.Gln325Leu)	ANXA1 (Q325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684580	GRCh37/hg19 9q21.13(chr9:75265721-75994532)x3	ALDH1A1, ANXA1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809319	GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3	ABHD17B, ALDH1A1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 815263	GRCh37/hg19 9q21.13(chr9:75695874-76020754)x3	ANXA1	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687174	GRCh37/hg19 9q21.13(chr9:75591957-75983950)x3	ANXA1	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685659	GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1	ABHD17B, ALDH1A1 +42 more	Copy number loss	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
Select item 563680	GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1	ABHD17B, ALDH1A1 +54 more	Copy number loss	not provided	GPathogenic
Select item 563676	GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1	ALDH1A1, ANXA1 +24 more	Copy number loss	not provided	GPathogenic
Select item 563647	GRCh37/hg19 9q21.13(chr9:75519250-76155313)x3	ALDH1A1, ANXA1	Copy number gain	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443719	GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1	ABHD17B, ALDH1A1 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 442687	GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3	ABHD17B, ALDH1A1 +50 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 81