283373[Gene ID] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 1707467	Single allele	ANKRD52, APOF +124 more	Duplication	not specified	GUncertain significance
Select item 2464918	NM_173595.4(ANKRD52):c.3199G>A (p.Ala1067Thr)	ANKRD52, LOC132090122 (A1067T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126877	NM_173595.4(ANKRD52):c.3179A>T (p.Tyr1060Phe)	ANKRD52, LOC132090122 (Y1060F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126876	NM_173595.4(ANKRD52):c.3148G>A (p.Gly1050Ser)	ANKRD52, LOC132090122 (G1050S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225991	NM_173595.4(ANKRD52):c.3127G>A (p.Ala1043Thr)	ANKRD52, LOC132090122 (A1043T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412567	NM_173595.4(ANKRD52):c.3122C>T (p.Ala1041Val)	ANKRD52, LOC132090122 (A1041V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218927	NM_173595.4(ANKRD52):c.3011A>G (p.Asn1004Ser)	ANKRD52 (N1004S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221942	NM_173595.4(ANKRD52):c.2909G>A (p.Arg970Gln)	ANKRD52 (R970Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349645	NM_173595.4(ANKRD52):c.2864A>G (p.Asn955Ser)	ANKRD52 (N955S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279580	NM_173595.4(ANKRD52):c.2780C>T (p.Thr927Met)	ANKRD52 (T927M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480656	NM_173595.4(ANKRD52):c.2762T>C (p.Leu921Ser)	ANKRD52 (L921S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476251	NM_173595.4(ANKRD52):c.2688G>A (p.Met896Ile)	ANKRD52 (M896I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365871	NM_173595.4(ANKRD52):c.2675G>A (p.Arg892His)	ANKRD52 (R892H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126875	NM_173595.4(ANKRD52):c.2656G>A (p.Ala886Thr)	ANKRD52 (A886T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338954	NM_173595.4(ANKRD52):c.2623C>T (p.Arg875Trp)	ANKRD52 (R875W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569041	NM_173595.4(ANKRD52):c.2584C>T (p.Leu862Phe)	ANKRD52 (L862F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324770	NM_173595.4(ANKRD52):c.2437C>A (p.His813Asn)	ANKRD52 (H813N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357565	NM_173595.4(ANKRD52):c.2408A>G (p.His803Arg)	ANKRD52 (H803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324769	NM_173595.4(ANKRD52):c.2263C>T (p.Arg755Cys)	ANKRD52 (R755C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297780	NM_173595.4(ANKRD52):c.2203G>A (p.Asp735Asn)	ANKRD52 (D735N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126874	NM_173595.4(ANKRD52):c.2033C>T (p.Ala678Val)	ANKRD52 (A678V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300730	NM_173595.4(ANKRD52):c.1882C>T (p.Arg628Cys)	ANKRD52 (R628C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314195	NM_173595.4(ANKRD52):c.1831C>G (p.Leu611Val)	ANKRD52 (L611V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297770	NM_173595.4(ANKRD52):c.1784A>G (p.Asn595Ser)	ANKRD52 (N595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381740	NM_173595.4(ANKRD52):c.1714A>G (p.Met572Val)	ANKRD52 (M572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282019	NM_173595.4(ANKRD52):c.1573C>T (p.Arg525Cys)	ANKRD52 (R525C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233400	NM_173595.4(ANKRD52):c.1520C>T (p.Pro507Leu)	ANKRD52 (P507L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484520	NM_173595.4(ANKRD52):c.1492G>A (p.Ala498Thr)	ANKRD52 (A498T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126873	NM_173595.4(ANKRD52):c.1486G>A (p.Ala496Thr)	ANKRD52 (A496T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785412	NM_173595.4(ANKRD52):c.1398C>T (p.Asn466=)	ANKRD52	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2408540	NM_173595.4(ANKRD52):c.1214G>T (p.Ser405Ile)	ANKRD52 (S405I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260884	NM_173595.4(ANKRD52):c.1187A>G (p.Gln396Arg)	ANKRD52 (Q396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318004	NM_173595.4(ANKRD52):c.995T>C (p.Ile332Thr)	ANKRD52 (I332T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380383	NM_173595.4(ANKRD52):c.736G>A (p.Ala246Thr)	ANKRD52 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785413	NM_173595.4(ANKRD52):c.694-3C>T	ANKRD52	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2548313	NM_173595.4(ANKRD52):c.689C>A (p.Ala230Glu)	ANKRD52 (A230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215776	NM_173595.4(ANKRD52):c.689C>T (p.Ala230Val)	ANKRD52 (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297791	NM_173595.4(ANKRD52):c.328C>G (p.Pro110Ala)	ANKRD52 (P110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224276	NM_173595.4(ANKRD52):c.184A>T (p.Met62Leu)	ANKRD52 (M62L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598167	NM_173595.4(ANKRD52):c.105T>A (p.Asn35Lys)	ANKRD52, LOC130008065 (N35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330376	NM_173595.4(ANKRD52):c.22G>C (p.Asp8His)	ANKRD52, LOC130008067 (D8H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 47