ZFP36L2[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +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	HADHA, HADHB +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	RHOQ, SRBD1 +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

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Items: 75