MMRN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 146171	GRCh38/hg38 4q22.1(chr4:89537501-90291933)x1	CCSER1, LOC110121083 +9 more	Copy number loss	See cases	GLikely pathogenic
Select item 14011	NC_000004.12:g.(?_89724098)_(89927969_89934809)dup	LOC129389225, MMRN1 +2 more	Duplication	Autosomal dominant Parkinson disease 1 +1 more	GPathogenic
Select item 2556457	NM_007351.3(MMRN1):c.46G>A (p.Gly16Arg)	MMRN1 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172409	NM_007351.3(MMRN1):c.87A>G (p.Ile29Met)	MMRN1 (I29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172480	NM_007351.3(MMRN1):c.88C>T (p.Pro30Ser)	MMRN1 (P30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340680	NM_007351.3(MMRN1):c.100A>C (p.Asn34His)	MMRN1 (N34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493321	NM_007351.3(MMRN1):c.125C>T (p.Ala42Val)	MMRN1 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785103	NM_007351.3(MMRN1):c.130G>A (p.Val44Ile)	MMRN1 (V44I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2529513	NM_007351.3(MMRN1):c.146T>C (p.Ile49Thr)	MMRN1 (I49T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220431	NM_007351.3(MMRN1):c.229A>G (p.Ser77Gly)	MMRN1 (S77G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170953	NM_007351.3(MMRN1):c.244A>G (p.Thr82Ala)	MMRN1 (T82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544309	NM_007351.3(MMRN1):c.263C>A (p.Thr88Lys)	MMRN1 (T88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352308	NM_007351.3(MMRN1):c.430A>C (p.Ser144Arg)	MMRN1 (S144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394369	NM_007351.3(MMRN1):c.478G>A (p.Gly160Arg)	MMRN1 (G160R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171823	NM_007351.3(MMRN1):c.488G>A (p.Gly163Glu)	MMRN1 (G163E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255969	NM_007351.3(MMRN1):c.493A>C (p.Ile165Leu)	MMRN1 (I165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340585	NM_007351.3(MMRN1):c.502G>A (p.Val168Ile)	MMRN1 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789579	NM_007351.3(MMRN1):c.519C>T (p.Gly173=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3171948	NM_007351.3(MMRN1):c.556C>T (p.Arg186Trp)	MMRN1 (R186W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299877	NM_007351.3(MMRN1):c.605T>G (p.Phe202Cys)	MMRN1 (F202C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363425	NM_007351.3(MMRN1):c.629G>C (p.Trp210Ser)	MMRN1 (W210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377945	NM_007351.3(MMRN1):c.665T>C (p.Val222Ala)	MMRN1 (V222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716819	NM_007351.3(MMRN1):c.670T>C (p.Leu224=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3172065	NM_007351.3(MMRN1):c.674A>G (p.Asp225Gly)	MMRN1 (D225G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172092	NM_007351.3(MMRN1):c.676A>G (p.Asn226Asp)	MMRN1 (N226D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172114	NM_007351.3(MMRN1):c.682G>T (p.Val228Phe)	MMRN1 (V228F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291697	NM_007351.3(MMRN1):c.709C>T (p.Pro237Ser)	MMRN1 (P237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172151	NM_007351.3(MMRN1):c.734G>A (p.Cys245Tyr)	MMRN1 (C245Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251274	NM_007351.3(MMRN1):c.740A>G (p.Gln247Arg)	MMRN1 (Q247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713094	NM_007351.3(MMRN1):c.743+7A>T	MMRN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3172221	NM_007351.3(MMRN1):c.751A>G (p.Lys251Glu)	MMRN1 (K251E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522008	NM_007351.3(MMRN1):c.757T>C (p.Ser253Pro)	MMRN1 (S253P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349192	NM_007351.3(MMRN1):c.802G>A (p.Asp268Asn)	MMRN1 (D268N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769636	NM_007351.3(MMRN1):c.833C>T (p.Pro278Leu)	MMRN1 (P278L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2519350	NM_007351.3(MMRN1):c.842A>G (p.Gln281Arg)	MMRN1 (Q23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781979	NM_007351.3(MMRN1):c.851-8C>T	MMRN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2524412	NM_007351.3(MMRN1):c.856G>A (p.Glu286Lys)	MMRN1 (E28K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409133	NM_007351.3(MMRN1):c.874C>T (p.His292Tyr)	MMRN1 (H292Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319258	NM_007351.3(MMRN1):c.880A>G (p.Asn294Asp)	MMRN1 (N294D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410159	NM_007351.3(MMRN1):c.908G>T (p.Gly303Val)	MMRN1 (G303V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548451	NM_007351.3(MMRN1):c.1103G>A (p.Ser368Asn)	MMRN1 (S110N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559590	NM_007351.3(MMRN1):c.1147A>T (p.Ile383Phe)	MMRN1 (I125F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367521	NM_007351.3(MMRN1):c.1244G>T (p.Ser415Ile)	MMRN1 (S415I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294195	NM_007351.3(MMRN1):c.1381A>C (p.Asn461His)	MMRN1 (N203H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775999	NM_007351.3(MMRN1):c.1395T>C (p.Asn465=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2496562	NM_007351.3(MMRN1):c.1396G>A (p.Val466Ile)	MMRN1 (V208I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2330963	NM_007351.3(MMRN1):c.1474C>G (p.Leu492Val)	MMRN1 (L234V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305204	NM_007351.3(MMRN1):c.1492A>G (p.Arg498Gly)	MMRN1 (R240G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475865	NM_007351.3(MMRN1):c.1735G>C (p.Val579Leu)	MMRN1 (V579L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468974	NM_007351.3(MMRN1):c.1955T>C (p.Leu652Ser)	MMRN1 (L652S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242440	NM_007351.3(MMRN1):c.2015T>C (p.Ile672Thr)	MMRN1 (I414T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268878	NM_007351.3(MMRN1):c.2089A>G (p.Lys697Glu)	MMRN1 (K439E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261134	NM_007351.3(MMRN1):c.2095C>T (p.His699Tyr)	MMRN1 (H699Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407491	NM_007351.3(MMRN1):c.2129A>T (p.Asp710Val)	MMRN1 (D710V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170758	NM_007351.3(MMRN1):c.2182C>T (p.Leu728Phe)	MMRN1 (L470F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243576	NM_007351.3(MMRN1):c.2195T>C (p.Met732Thr)	MMRN1 (M474T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379480	NM_007351.3(MMRN1):c.2309A>T (p.Glu770Val)	MMRN1 (E770V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226497	NM_007351.3(MMRN1):c.2335T>C (p.Phe779Leu)	MMRN1 (F779L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170896	NM_007351.3(MMRN1):c.2342G>A (p.Arg781His)	MMRN1 (R781H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 777972	NM_007351.3(MMRN1):c.2421A>G (p.Ala807=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2471575	NM_007351.3(MMRN1):c.2423G>T (p.Gly808Val)	MMRN1 (G550V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607378	NM_007351.3(MMRN1):c.2477T>C (p.Met826Thr)	MMRN1 (M568T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171018	NM_007351.3(MMRN1):c.2489C>T (p.Thr830Ile)	MMRN1 (T830I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623717	NM_007351.3(MMRN1):c.2498A>C (p.Gln833Pro)	MMRN1 (Q575P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331345	NM_007351.3(MMRN1):c.2534A>T (p.Glu845Val)	MMRN1 (E587V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171134	NM_007351.3(MMRN1):c.2663A>T (p.Asn888Ile)	MMRN1 (N630I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171156	NM_007351.3(MMRN1):c.2677G>C (p.Ala893Pro)	MMRN1 (A635P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171181	NM_007351.3(MMRN1):c.2683C>A (p.Gln895Lys)	MMRN1 (Q637K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777973	NM_007351.3(MMRN1):c.2716T>C (p.Leu906=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2654948	NM_007351.3(MMRN1):c.2757G>A (p.Ser919=)	MMRN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171201	NM_007351.3(MMRN1):c.2788A>G (p.Met930Val)	MMRN1 (M672V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171222	NM_007351.3(MMRN1):c.2842T>C (p.Trp948Arg)	MMRN1 (W690R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171257	NM_007351.3(MMRN1):c.2851C>T (p.His951Tyr)	MMRN1 (H951Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271914	NM_007351.3(MMRN1):c.3010G>C (p.Val1004Leu)	MMRN1 (V1004L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171326	NM_007351.3(MMRN1):c.3098C>A (p.Thr1033Lys)	MMRN1 (T775K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283436	NM_007351.3(MMRN1):c.3115C>T (p.Pro1039Ser)	MMRN1 (P1039S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206360	NM_007351.3(MMRN1):c.3130A>G (p.Ser1044Gly)	MMRN1 (S786G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3171419	NM_007351.3(MMRN1):c.3142C>T (p.His1048Tyr)	MMRN1 (H1048Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258923	NM_007351.3(MMRN1):c.3262C>T (p.Pro1088Ser)	MMRN1 (P1088S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228974	NM_007351.3(MMRN1):c.3295C>T (p.Pro1099Ser)	MMRN1 (P1099S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171512	NM_007351.3(MMRN1):c.3425T>C (p.Leu1142Pro)	MMRN1 (L884P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244923	NM_007351.3(MMRN1):c.3452T>A (p.Ile1151Asn)	MMRN1 (I1151N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547315	NM_007351.3(MMRN1):c.3466G>A (p.Ala1156Thr)	MMRN1 (A898T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222295	NM_007351.3(MMRN1):c.3566G>A (p.Gly1189Glu)	MMRN1 (G1189E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403388	NM_007351.3(MMRN1):c.3578T>C (p.Leu1193Ser)	MMRN1 (L935S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171674	NM_007351.3(MMRN1):c.3613C>T (p.Leu1205Phe)	MMRN1 (L1205F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214838	NM_007351.3(MMRN1):c.3679C>T (p.Arg1227Cys)	MMRN1 (R1227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654949	NM_007351.3(MMRN1):c.3680G>T (p.Arg1227Leu)	MMRN1 (R1227L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685980	GRCh37/hg19 4q22.1-22.2(chr4:90821342-93994597)x3	CCSER1, GRID2 +1 more	Copy number gain	not provided	GUncertain significance

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