ClinVar for Gene (Select 301) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3127257	NM_000700.3(ANXA1):c.700C>T (p.Arg234Cys)	ANXA1 (R234C)	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 3127255	NM_000700.3(ANXA1):c.379A>T (p.Met127Leu)	ANXA1 (M127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3127253	NM_000700.3(ANXA1):c.127A>T (p.Asn43Tyr)	ANXA1 (N43Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3045489	NM_000700.3(ANXA1):c.271-5del	ANXA1	Deletion (intron variant)	ANXA1-related disorder	GLikely benign
Select item 3044249	NM_000700.3(ANXA1):c.176-7T>C	ANXA1	Single nucleotide variant (intron variant)	ANXA1-related disorder	GBenign
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 3038691	NM_000700.3(ANXA1):c.384+7C>T	ANXA1	Single nucleotide variant (intron variant)	ANXA1-related disorder	GBenign
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 2684580	GRCh37/hg19 9q21.13(chr9:75265721-75994532)x3	ALDH1A1, ANXA1 +1 more	Copy number gain	not provided	GUncertain significance
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 2601104	NM_000700.3(ANXA1):c.889A>C (p.Ile297Leu)	ANXA1 (I297L)	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 2546111	NM_000700.3(ANXA1):c.642G>T (p.Lys214Asn)	ANXA1 (K214N)	Single nucleotide variant (missense variant)	not specified	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 2475995	NM_000700.3(ANXA1):c.835G>T (p.Ala279Ser)	ANXA1 (A279S)	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 2374967	NM_000700.3(ANXA1):c.886T>A (p.Leu296Met)	ANXA1 (L296M)	Single nucleotide variant (missense variant)	not specified	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 2288140	NM_000700.3(ANXA1):c.506C>G (p.Thr169Ser)	ANXA1 (T169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2275153	NM_000700.3(ANXA1):c.580G>A (p.Val194Met)	ANXA1 (V194M)	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 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	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +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)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1342632	NC_000009.12:g.73165555_73173279dup	ANXA1	Duplication	Autism	GUncertain significance
Select item 815263	GRCh37/hg19 9q21.13(chr9:75695874-76020754)x3	ANXA1	Copy number gain	not provided	GUncertain significance
Select item 784647	NM_000700.3(ANXA1):c.105G>T (p.Ala35=)	ANXA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 774674	NM_000700.3(ANXA1):c.271-4G>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 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 738641	NM_000700.3(ANXA1):c.861+10A>G	ANXA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 694460	NC_000009.11:g.12246100_101559378inv	IFNA16, NTRK2 +326 more	Inversion	Recurrent spontaneous abortion +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	ABCA1, ABCA2 +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	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	ABHD17B, ACO1 +185 more	Complex	Glioma	GLikely pathogenic
Select item 587539	NM_000700.3(ANXA1):c.209_212del (p.Thr70fs)	ANXA1 (T70fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
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)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +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	TRMT10B, TRPM3 +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)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC132089671, LOC132089672 +1213 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LINC03026, LINC03041 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	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 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	ABHD17B, ACER2 +1119 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 77