26614[HGNC] - ClinVar

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

Search results

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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47