LARP1B[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 60198	GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1	ABHD18, HSPA4L +15 more	Copy number loss	See cases	GUncertain significance
Select item 151694	GRCh38/hg38 4q28.2(chr4:127937074-128141489)x3	ABHD18, LARP1B +9 more	Copy number gain	See cases	GUncertain significance
Select item 2509315	NM_018078.4(LARP1B):c.183G>C (p.Glu61Asp)	LARP1B (E61D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117829	NM_018078.4(LARP1B):c.213G>C (p.Lys71Asn)	LARP1B (K71N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117833	NM_018078.4(LARP1B):c.434G>A (p.Arg145Gln)	LARP1B (R145Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2228535	NM_018078.4(LARP1B):c.464G>A (p.Arg155Gln)	LARP1B (R155Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2214810	NM_018078.4(LARP1B):c.469C>T (p.Arg157Trp)	LARP1B (R157W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313701	NM_018078.4(LARP1B):c.524G>A (p.Gly175Asp)	LARP1B (G175D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2514850	NM_018078.4(LARP1B):c.587T>C (p.Met196Thr)	LARP1B (M196T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2408089	NM_018078.4(LARP1B):c.596A>G (p.Tyr199Cys)	LARP1B (Y199C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213805	NM_018078.4(LARP1B):c.619G>A (p.Val207Met)	LARP1B (V207M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117834	NM_018078.4(LARP1B):c.628G>C (p.Val210Leu)	LARP1B (V210L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117835	NM_018078.4(LARP1B):c.671A>G (p.Glu224Gly)	LARP1B (E224G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2337681	NM_018078.4(LARP1B):c.672A>C (p.Glu224Asp)	LARP1B (E224D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117836	NM_018078.4(LARP1B):c.731A>C (p.Glu244Ala)	LARP1B (E3A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117837	NM_018078.4(LARP1B):c.896G>A (p.Gly299Asp)	LARP1B (G58D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117838	NM_018078.4(LARP1B):c.907C>T (p.Arg303Cys)	LARP1B (R303C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296380	NM_018078.4(LARP1B):c.925G>C (p.Asp309His)	LARP1B (D309H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405328	NM_018078.4(LARP1B):c.941T>C (p.Ile314Thr)	LARP1B (I314T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210743	NM_018078.4(LARP1B):c.971C>A (p.Ala324Asp)	LARP1B (A83D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622409	NM_018078.4(LARP1B):c.983A>T (p.His328Leu)	LARP1B (H328L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382859	NM_018078.4(LARP1B):c.997C>G (p.Pro333Ala)	LARP1B (P333A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294120	NM_018078.4(LARP1B):c.1021C>T (p.Pro341Ser)	LARP1B (P341S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381770	NM_018078.4(LARP1B):c.1066A>G (p.Met356Val)	LARP1B (M115V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117821	NM_018078.4(LARP1B):c.1106C>T (p.Ser369Leu)	LARP1B (S128L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519923	NM_018078.4(LARP1B):c.1117A>G (p.Ile373Val)	LARP1B (I132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 3117822	NM_018078.4(LARP1B):c.1203T>G (p.Cys401Trp)	LARP1B (C160W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307422	NM_018078.4(LARP1B):c.1217C>T (p.Pro406Leu)	LARP1B (P406L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117823	NM_018078.4(LARP1B):c.1255A>T (p.Ile419Phe)	LARP1B (I178F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 161836	NM_018078.4(LARP1B):c.1324G>T (p.Asp442Tyr)	LARP1B (D442Y +1 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 3117824	NM_018078.4(LARP1B):c.1372G>A (p.Val458Met)	LARP1B (V217M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2220398	NM_018078.4(LARP1B):c.1411A>G (p.Met471Val)	LARP1B (M230V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265221	NM_018078.4(LARP1B):c.1456G>C (p.Asp486His)	LARP1B (D245H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472822	NM_018078.4(LARP1B):c.1493A>C (p.Glu498Ala)	LARP1B (E257A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262561	NM_018078.4(LARP1B):c.1495G>A (p.Glu499Lys)	LARP1B (E258K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380982	NM_018078.4(LARP1B):c.1497A>T (p.Glu499Asp)	LARP1B (E499D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221887	NM_018078.4(LARP1B):c.1560T>G (p.Ile520Met)	LARP1B (I279M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117825	NM_018078.4(LARP1B):c.1733C>T (p.Thr578Ile)	LARP1B (T578I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512126	NM_018078.4(LARP1B):c.1826G>T (p.Arg609Met)	LARP1B (R597M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294363	NM_018078.4(LARP1B):c.1931A>G (p.Asn644Ser)	LARP1B (N632S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258565	NM_018078.4(LARP1B):c.1937C>T (p.Pro646Leu)	LARP1B (P366L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265125	NM_018078.4(LARP1B):c.1991C>A (p.Thr664Lys)	LARP1B (T384K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117827	NM_018078.4(LARP1B):c.2032G>A (p.Ala678Thr)	LARP1B (A666T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117828	NM_018078.4(LARP1B):c.2130A>C (p.Gln710His)	LARP1B (Q430H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258532	NM_018078.4(LARP1B):c.2147G>A (p.Arg716His)	LARP1B (R436H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608743	NM_018078.4(LARP1B):c.2173C>T (p.Arg725Cys)	LARP1B (R445C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117830	NM_018078.4(LARP1B):c.2216G>A (p.Arg739His)	LARP1B (R727H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392005	NM_018078.4(LARP1B):c.2259G>A (p.Met753Ile)	LARP1B (M20I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470843	NM_018078.4(LARP1B):c.2369G>A (p.Arg790Gln)	LARP1B (R510Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117831	NM_018078.4(LARP1B):c.2413G>A (p.Glu805Lys)	LARP1B (E525K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553093	NM_018078.4(LARP1B):c.2423A>T (p.Gln808Leu)	LARP1B (Q75L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530778	NM_018078.4(LARP1B):c.2429A>G (p.Tyr810Cys)	LARP1B (Y798C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299549	NM_018078.4(LARP1B):c.2590A>G (p.Thr864Ala)	LARP1B (T852A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490575	NM_018078.4(LARP1B):c.2609A>G (p.Asn870Ser)	LARP1B (N590S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3117832	NM_018078.4(LARP1B):c.2705G>T (p.Arg902Ile)	LARP1B (R622I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472688	NM_018078.4(LARP1B):c.2711A>G (p.Asn904Ser)	LARP1B (N892S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329414	NM_018078.4(LARP1B):c.2720C>A (p.Pro907Gln)	LARP1B (P174Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375922	NM_018078.4(LARP1B):c.2741A>G (p.His914Arg)	LARP1B (H914R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1341171	GRCh37/hg19 4q28.2(chr4:128852425-129087108)x3	ABHD18, LARP1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	ABHD18, ADAD1 +48 more	Copy number loss	not provided	GPathogenic
Select item 1069575	NC_000004.11:g.(?_128544537)_(129131208_?)del	ABHD18, HSPA4L +5 more	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	FGF2, HSPA4L +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1007966	NC_000004.11:g.(?_128804417)_(129131208_?)dup	ABHD18, LARP1B +2 more	Duplication	not provided	GUncertain significance
Select item 980137	GRCh37/hg19 4q28.2(chr4:128937051-129150590)x3	LARP1B, ABHD18	Copy number gain	not provided	GUncertain significance
Select item 814608	GRCh37/hg19 4q28.2-28.3(chr4:128898820-132769588)x1	SCLT1, PGRMC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 562967	GRCh37/hg19 4q28.2(chr4:128850788-129087108)x3	MFSD8, LARP1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 90