ANXA2[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	ADAM10, ALDH1A2 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 2255841	NM_004039.3(ANXA2):c.876G>T (p.Met292Ile)	ANXA2 (M292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127275	NM_004039.3(ANXA2):c.640A>G (p.Ile214Val)	ANXA2 (I214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127274	NM_004039.3(ANXA2):c.507G>C (p.Lys169Asn)	ANXA2 (K169N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127273	NM_004039.3(ANXA2):c.440A>T (p.Tyr147Phe)	ANXA2 (Y147F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127272	NM_004039.3(ANXA2):c.361C>A (p.Leu121Met)	ANXA2 (L121M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238049	NM_004039.3(ANXA2):c.292G>T (p.Val98Leu)	ANXA2 (V116L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3127271	NM_004039.3(ANXA2):c.201G>C (p.Gln67His)	ANXA2 (Q67H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243243	NM_004039.3(ANXA2):c.10G>A (p.Val4Ile)	ANXA2 (V4I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685518	GRCh37/hg19 15q22.2(chr15:60688155-60888244)x1	ICE2, ANXA2 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	WDR72, ZNF280D +35 more	Copy number loss	not provided	GPathogenic
Select item 1808550	GRCh37/hg19 15q22.2(chr15:60643853-60783194)x1	ANXA2, ICE2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980526	GRCh37/hg19 15q22.2(chr15:60512325-61718875)x3	ICE2, RORA +1 more	Copy number gain	not provided	GUncertain significance
Select item 815726	GRCh37/hg19 15q22.2(chr15:60638862-60715643)x1	ANXA2, ICE2	Copy number loss	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 27