ANXA4[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 3127296	NM_001153.5(ANXA4):c.8T>C (p.Met3Thr)	ANXA4 (M3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225882	NM_001153.5(ANXA4):c.89A>C (p.Lys30Thr)	ANXA4 (K30T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221404	NM_001153.5(ANXA4):c.124G>A (p.Val42Ile)	ANXA4 (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127289	NM_001153.5(ANXA4):c.137G>A (p.Arg46His)	ANXA4 (R46H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127290	NM_001153.5(ANXA4):c.179G>C (p.Ser60Thr)	ANXA4 (S60T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2472846	NM_001153.5(ANXA4):c.235G>A (p.Glu79Lys)	ANXA4 (E79K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604228	NM_001153.5(ANXA4):c.255G>C (p.Met85Ile)	ANXA4 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3127291	NM_001153.5(ANXA4):c.266C>T (p.Thr89Met)	ANXA4 (T5M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536750	NM_001153.5(ANXA4):c.313G>A (p.Gly105Ser)	ANXA4 (G105S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357966	NM_001153.5(ANXA4):c.320A>G (p.Asp107Gly)	ANXA4 (D85G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569008	NM_001153.5(ANXA4):c.398A>G (p.Gln133Arg)	ANXA4 (Q49R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242279	NM_001153.5(ANXA4):c.404G>A (p.Gly135Glu)	ANXA4 (G113E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127292	NM_001153.5(ANXA4):c.413T>C (p.Leu138Pro)	ANXA4 (L138P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127293	NM_001153.5(ANXA4):c.418G>T (p.Asp140Tyr)	ANXA4 (D140Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127294	NM_001153.5(ANXA4):c.463G>A (p.Val155Met)	ANXA4 (V133M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722013	NM_001153.5(ANXA4):c.507C>T (p.Asp169=)	ANXA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2599064	NM_001153.5(ANXA4):c.517G>A (p.Val173Met)	ANXA4 (V173M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3127295	NM_001153.5(ANXA4):c.617A>T (p.His206Leu)	ANXA4 (H122L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271877	NM_001153.5(ANXA4):c.633T>A (p.Phe211Leu)	ANXA4 (F189L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774594	NM_001153.5(ANXA4):c.699C>T (p.Ser233=)	ANXA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2552517	NM_001153.5(ANXA4):c.776C>T (p.Ser259Leu)	ANXA4 (S237L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127297	NM_001153.5(ANXA4):c.949T>C (p.Cys317Arg)	ANXA4 (C295R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980977	GRCh37/hg19 2p13.3(chr2:69506803-70159981)x1	AAK1, ANXA4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 221423	GRCh37/hg19 2p13.3(chr2:70043280-70315412)x3	ASPRV1, GMCL1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 37