ClinVar for Gene (Select 79998) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297878	NM_001115116.2(ANKRD53):c.1360G>A (p.Val454Met)	ANKRD53 (V420M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297868	NM_001115116.2(ANKRD53):c.527C>T (p.Thr176Ile)	ANKRD53 (T176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297857	NM_001115116.2(ANKRD53):c.1345C>T (p.Arg449Trp)	ANKRD53 (R449W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297848	NM_001115116.2(ANKRD53):c.1288G>A (p.Gly430Arg)	ANKRD53 (G396R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3297838	NM_001115116.2(ANKRD53):c.538C>T (p.Leu180Phe)	ANKRD53 (L180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297821	NM_001115116.2(ANKRD53):c.1061A>G (p.His354Arg)	ANKRD53 (H354R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297802	NM_001115116.2(ANKRD53):c.557A>C (p.Asn186Thr)	ANKRD53 (N152T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126896	NM_001115116.2(ANKRD53):c.928G>A (p.Ala310Thr)	ANKRD53 (A276T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126895	NM_001115116.2(ANKRD53):c.658C>T (p.Arg220Cys)	ANKRD53 (R220C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126894	NM_001115116.2(ANKRD53):c.629A>G (p.Asn210Ser)	ANKRD53 (N210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126893	NM_001115116.2(ANKRD53):c.282G>C (p.Lys94Asn)	ANKRD53 (K60N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126892	NM_001115116.2(ANKRD53):c.280A>G (p.Lys94Glu)	ANKRD53 (K60E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3126891	NM_001115116.2(ANKRD53):c.230C>A (p.Pro77Gln)	ANKRD53 (P77Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126890	NM_001115116.2(ANKRD53):c.228G>T (p.Arg76Ser)	ANKRD53 (R76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126889	NM_001115116.2(ANKRD53):c.1463T>C (p.Leu488Pro)	ANKRD53 (L488P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126888	NM_001115116.2(ANKRD53):c.1457G>A (p.Arg486Gln)	ANKRD53 (R486Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126887	NM_001115116.2(ANKRD53):c.1408G>A (p.Val470Met)	ANKRD53 (V436M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126886	NM_001115116.2(ANKRD53):c.1385G>A (p.Arg462His)	ANKRD53 (R462H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126885	NM_001115116.2(ANKRD53):c.1346G>A (p.Arg449Gln)	ANKRD53 (R415Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126884	NM_001115116.2(ANKRD53):c.1339G>A (p.Val447Met)	ANKRD53 (V413M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126883	NM_001115116.2(ANKRD53):c.1327T>C (p.Trp443Arg)	ANKRD53 (W409R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126882	NM_001115116.2(ANKRD53):c.1313C>T (p.Thr438Ile)	ANKRD53 (T404I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126881	NM_001115116.2(ANKRD53):c.1220G>A (p.Arg407His)	ANKRD53 (R373H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126880	NM_001115116.2(ANKRD53):c.1138G>A (p.Val380Ile)	ANKRD53 (V346I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3126879	NM_001115116.2(ANKRD53):c.1112C>G (p.Pro371Arg)	ANKRD53 (P371R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651019	NM_001115116.2(ANKRD53):c.904-450C>T	ANKRD53	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2651018	NM_001115116.2(ANKRD53):c.885C>T (p.Asn295=)	ANKRD53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2651017	NM_001115116.2(ANKRD53):c.789G>A (p.Leu263=)	ANKRD53	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616732	NM_001115116.2(ANKRD53):c.1507C>A (p.Arg503Ser)	ANKRD53 (R503S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593982	NM_001115116.2(ANKRD53):c.963C>A (p.His321Gln)	ANKRD53 (H287Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564966	NM_001115116.2(ANKRD53):c.1247C>T (p.Pro416Leu)	ANKRD53 (P382L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559532	NM_001115116.2(ANKRD53):c.514A>C (p.Asn172His)	ANKRD53 (N172H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549334	NM_001115116.2(ANKRD53):c.1289G>C (p.Gly430Ala)	ANKRD53 (G396A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538097	NM_001115116.2(ANKRD53):c.26G>A (p.Arg9Gln)	ANKRD53 (R9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531158	NM_001115116.2(ANKRD53):c.1091T>C (p.Ile364Thr)	ANKRD53 (I364T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509343	NM_001115116.2(ANKRD53):c.1556G>C (p.Gly519Ala)	ANKRD53 (G519A +1 more)	Single nucleotide variant (missense variant +1 more)	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 2466020	NM_001115116.2(ANKRD53):c.875T>C (p.Met292Thr)	ANKRD53 (M292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459129	NM_001115116.2(ANKRD53):c.1528T>C (p.Phe510Leu)	ANKRD53 (F476L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2408148	NM_001115116.2(ANKRD53):c.1145G>A (p.Arg382Gln)	ANKRD53 (R348Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405953	NM_001115116.2(ANKRD53):c.836T>G (p.Met279Arg)	ANKRD53 (M279R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401767	NM_001115116.2(ANKRD53):c.328T>G (p.Tyr110Asp)	ANKRD53 (Y76D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397426	NM_001115116.2(ANKRD53):c.1013T>A (p.Leu338His)	ANKRD53 (L304H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391902	NM_001115116.2(ANKRD53):c.1000C>T (p.Arg334Trp)	ANKRD53 (R334W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374720	NM_001115116.2(ANKRD53):c.1586A>G (p.Asn529Ser)	ANKRD53 (N495S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364754	NM_001115116.2(ANKRD53):c.638C>T (p.Thr213Met)	ANKRD53 (T179M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362523	NM_001115116.2(ANKRD53):c.1565C>A (p.Thr522Asn)	ANKRD53 (T488N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358058	NM_001115116.2(ANKRD53):c.478G>A (p.Val160Ile)	ANKRD53 (V126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323964	NM_001115116.2(ANKRD53):c.1369C>G (p.Arg457Gly)	ANKRD53 (R423G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321306	NM_001115116.2(ANKRD53):c.134A>T (p.Lys45Met)	ANKRD53 (K45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307091	NM_001115116.2(ANKRD53):c.263C>T (p.Ala88Val)	ANKRD53 (A88V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2307090	NM_001115116.2(ANKRD53):c.262G>T (p.Ala88Ser)	ANKRD53 (A88S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294650	NM_001115116.2(ANKRD53):c.428C>A (p.Ala143Asp)	ANKRD53 (A143D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279156	NM_001115116.2(ANKRD53):c.1078C>T (p.Arg360Cys)	ANKRD53 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272649	NM_001115116.2(ANKRD53):c.32C>A (p.Ala11Glu)	ANKRD53 (A11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234650	NM_001115116.2(ANKRD53):c.683A>C (p.Lys228Thr)	ANKRD53 (K228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219241	NM_001115116.2(ANKRD53):c.781C>T (p.Arg261Trp)	ANKRD53 (R261W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218520	NM_001115116.2(ANKRD53):c.437T>A (p.Phe146Tyr)	ANKRD53 (F146Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218469	NM_001115116.2(ANKRD53):c.801G>A (p.Met267Ile)	ANKRD53 (M267I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204587	NM_001115116.2(ANKRD53):c.148G>A (p.Asp50Asn)	ANKRD53 (D50N)	Single nucleotide variant (missense variant)	not specified	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 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
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 685892	GRCh37/hg19 2p13.3-13.2(chr2:71164124-71535431)x3	ANKRD53, ATP6V1B1 +5 more	Copy number gain	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 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +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 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 74