ZFP36L2[gene] - ClinVar

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 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 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 585082	NM_006887.5(ZFP36L2):c.1426dup (p.Ser476fs)	ZFP36L2, LOC129933606 (S476fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 2331046	NM_006887.5(ZFP36L2):c.1381A>C (p.Ser461Arg)	ZFP36L2 (S461R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193132	NM_006887.5(ZFP36L2):c.1290C>G (p.Ser430Arg)	ZFP36L2 (S430R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193131	NM_006887.5(ZFP36L2):c.1270C>T (p.Pro424Ser)	ZFP36L2 (P424S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464464	NM_006887.5(ZFP36L2):c.1258G>C (p.Gly420Arg)	ZFP36L2 (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334474	NM_006887.5(ZFP36L2):c.1234C>T (p.Pro412Ser)	ZFP36L2 (P412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222857	NM_006887.5(ZFP36L2):c.1232C>T (p.Ala411Val)	ZFP36L2 (A411V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044335	NM_006887.5(ZFP36L2):c.1227G>A (p.Pro409=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 2554559	NM_006887.5(ZFP36L2):c.1205G>T (p.Gly402Val)	LOC129933607, ZFP36L2 (G402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403750	NM_006887.5(ZFP36L2):c.1188G>C (p.Gln396His)	LOC129933607, ZFP36L2 (Q396H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486018	NM_006887.5(ZFP36L2):c.1177C>T (p.Arg393Cys)	LOC129933607, ZFP36L2 (R393C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3350739	NM_006887.5(ZFP36L2):c.1170C>T (p.Ala390=)	LOC129933607, ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 2483360	NM_006887.5(ZFP36L2):c.1160C>T (p.Ala387Val)	LOC129933607, ZFP36L2 (A387V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329758	NM_006887.5(ZFP36L2):c.1129G>C (p.Ala377Pro)	LOC129933607, ZFP36L2 (A377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334479	NM_006887.5(ZFP36L2):c.1123C>T (p.Pro375Ser)	LOC129933607, ZFP36L2 (P375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331637	NM_006887.5(ZFP36L2):c.1091C>T (p.Ala364Val)	LOC129933607, ZFP36L2 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215384	NM_006887.5(ZFP36L2):c.1090G>A (p.Ala364Thr)	LOC129933607, ZFP36L2 (A364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477618	NM_006887.5(ZFP36L2):c.1067C>T (p.Ala356Val)	LOC129933607, ZFP36L2 (A356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365974	NM_006887.5(ZFP36L2):c.1051G>T (p.Ala351Ser)	LOC129933607, ZFP36L2 (A351S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456877	NM_006887.5(ZFP36L2):c.1043C>A (p.Ala348Asp)	LOC129933607, ZFP36L2 (A348D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650851	NM_006887.5(ZFP36L2):c.1041G>A (p.Gly347=)	LOC129933607, ZFP36L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3334478	NM_006887.5(ZFP36L2):c.1010C>A (p.Thr337Asn)	LOC129933607, ZFP36L2 (T337N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552328	NM_006887.5(ZFP36L2):c.989C>T (p.Ala330Val)	LOC129933607, ZFP36L2 (A330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056057	NM_006887.5(ZFP36L2):c.986C>T (p.Ala329Val)	LOC129933607, ZFP36L2 (A329V)	Single nucleotide variant (missense variant)	ZFP36L2-related disorder	GBenign
Select item 2465996	NM_006887.5(ZFP36L2):c.985G>A (p.Ala329Thr)	LOC129933607, ZFP36L2 (A329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343253	NM_006887.5(ZFP36L2):c.967G>A (p.Ala323Thr)	ZFP36L2 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193139	NM_006887.5(ZFP36L2):c.964T>C (p.Cys322Arg)	ZFP36L2 (C322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614840	NM_006887.5(ZFP36L2):c.947C>G (p.Ser316Trp)	ZFP36L2 (S316W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650852	NM_006887.5(ZFP36L2):c.933G>A (p.Ala311=)	ZFP36L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1802638	NM_006887.5(ZFP36L2):c.922_930del (p.Ser308_Ser310del)	ZFP36L2	Deletion (inframe_deletion)	Oocyte maturation defect 13	GPathogenic
Select item 1802639	NM_006887.5(ZFP36L2):c.922T>G (p.Ser308Ala)	ZFP36L2 (S308A)	Single nucleotide variant (missense variant)	Oocyte maturation defect 13	GPathogenic
Select item 3334480	NM_006887.5(ZFP36L2):c.897C>G (p.Cys299Trp)	LOC129933608, ZFP36L2 (C299W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048852	NM_006887.5(ZFP36L2):c.835C>T (p.Leu279=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 2605284	NM_006887.5(ZFP36L2):c.830C>T (p.Pro277Leu)	ZFP36L2 (P277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470686	NM_006887.5(ZFP36L2):c.815G>C (p.Gly272Ala)	ZFP36L2 (G272A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256474	NM_006887.5(ZFP36L2):c.814G>C (p.Gly272Arg)	ZFP36L2 (G272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056889	NM_006887.5(ZFP36L2):c.760T>C (p.Leu254=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GBenign
Select item 3334477	NM_006887.5(ZFP36L2):c.758A>G (p.Lys253Arg)	ZFP36L2 (K253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272353	NM_006887.5(ZFP36L2):c.752G>A (p.Arg251Gln)	ZFP36L2 (R251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193138	NM_006887.5(ZFP36L2):c.739C>T (p.Pro247Ser)	ZFP36L2 (P247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482319	NM_006887.5(ZFP36L2):c.721G>C (p.Ala241Pro)	ZFP36L2 (A241P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049253	NM_006887.5(ZFP36L2):c.657C>G (p.Asp219Glu)	ZFP36L2 (D219E)	Single nucleotide variant (missense variant)	ZFP36L2-related disorder	GLikely benign
Select item 3055927	NM_006887.5(ZFP36L2):c.609C>T (p.Ile203=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GBenign
Select item 2603945	NM_006887.5(ZFP36L2):c.554G>C (p.Ser185Thr)	ZFP36L2 (S185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057271	NM_006887.5(ZFP36L2):c.531G>T (p.Ala177=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 3193137	NM_006887.5(ZFP36L2):c.506A>G (p.Lys169Arg)	ZFP36L2 (K169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036014	NM_006887.5(ZFP36L2):c.489G>A (p.Glu163=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 3193136	NM_006887.5(ZFP36L2):c.444G>C (p.Gln148His)	ZFP36L2 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334471	NM_006887.5(ZFP36L2):c.400C>G (p.Leu134Val)	ZFP36L2 (L134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334483	NM_006887.5(ZFP36L2):c.382G>T (p.Gly128Cys)	ZFP36L2 (G128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039683	NM_006887.5(ZFP36L2):c.335T>A (p.Leu112Gln)	ZFP36L2 (L112Q)	Single nucleotide variant (missense variant)	ZFP36L2-related disorder	GBenign
Select item 3193135	NM_006887.5(ZFP36L2):c.320G>A (p.Gly107Asp)	ZFP36L2 (G107D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193134	NM_006887.5(ZFP36L2):c.296G>A (p.Gly99Asp)	ZFP36L2 (G99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279539	NM_006887.5(ZFP36L2):c.287C>T (p.Thr96Ile)	ZFP36L2 (T96I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534780	NM_006887.5(ZFP36L2):c.286A>G (p.Thr96Ala)	ZFP36L2 (T96A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3050189	NM_006887.5(ZFP36L2):c.279C>T (p.Gly93=)	ZFP36L2	Single nucleotide variant (synonymous variant)	ZFP36L2-related disorder	GLikely benign
Select item 3334473	NM_006887.5(ZFP36L2):c.278G>C (p.Gly93Ala)	ZFP36L2 (G93A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534779	NM_006887.5(ZFP36L2):c.277G>A (p.Gly93Ser)	ZFP36L2 (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251561	NM_006887.5(ZFP36L2):c.274G>A (p.Ala92Thr)	ZFP36L2 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334472	NM_006887.5(ZFP36L2):c.262G>A (p.Gly88Ser)	ZFP36L2 (G88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193133	NM_006887.5(ZFP36L2):c.254G>A (p.Ser85Asn)	ZFP36L2 (S85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212105	NM_006887.5(ZFP36L2):c.250G>A (p.Gly84Ser)	ZFP36L2 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613003	NM_006887.5(ZFP36L2):c.236C>A (p.Pro79Gln)	ZFP36L2 (P79Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275807	NM_006887.5(ZFP36L2):c.218G>A (p.Ser73Asn)	ZFP36L2 (S73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401382	NM_006887.5(ZFP36L2):c.188C>T (p.Ala63Val)	ZFP36L2 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045315	NM_006887.5(ZFP36L2):c.186T>G (p.His62Gln)	ZFP36L2 (H62Q)	Single nucleotide variant (missense variant)	ZFP36L2-related disorder	GBenign
Select item 3334475	NM_006887.5(ZFP36L2):c.168C>G (p.His56Gln)	ZFP36L2 (H56Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334481	NM_006887.5(ZFP36L2):c.152G>C (p.Gly51Ala)	ZFP36L2 (G51A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193130	NM_006887.5(ZFP36L2):c.110G>T (p.Gly37Val)	ZFP36L2 (G37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528525	NM_006887.5(ZFP36L2):c.88A>G (p.Met30Val)	ZFP36L2 (M30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334476	NM_006887.5(ZFP36L2):c.78C>G (p.Asn26Lys)	ZFP36L2 (N26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334482	NM_006887.5(ZFP36L2):c.73C>G (p.Leu25Val)	ZFP36L2 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	CAMKMT, CDKL4 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	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 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 562680	GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3	ABCG5, ABCG8 +100 more	Copy number gain	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 442534	GRCh37/hg19 2p21(chr2:43386188-45013725)x3	ABCG5, ABCG8 +9 more	Copy number gain	See cases	GLikely pathogenic
Select item 429039	NC_000002.11:g.38121110_47669522inv	ABCG5, KCNG3 +52 more	Inversion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 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: 89