MAFB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 338372	NM_005461.5(MAFB):c.*2008T>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 338373	NM_005461.5(MAFB):c.*1849C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 338374	NM_005461.5(MAFB):c.*1803C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338375	NM_005461.5(MAFB):c.*1787T>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338376	NM_005461.5(MAFB):c.*1751C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338377	NM_005461.5(MAFB):c.*1737A>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 899114	NM_005461.5(MAFB):c.*1690G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338378	NM_005461.5(MAFB):c.*1679C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338379	NM_005461.5(MAFB):c.*1592dup	MAFB	Duplication (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338380	NM_005461.5(MAFB):c.*1592del	MAFB	Deletion (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338381	NM_005461.5(MAFB):c.*1591T>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338382	NM_005461.5(MAFB):c.*1551G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338383	NM_005461.5(MAFB):c.*1520C>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GLikely benign
Select item 894982	NM_005461.5(MAFB):c.*1519C>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338384	NM_005461.5(MAFB):c.*1519C>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338385	NM_005461.5(MAFB):c.*1433A>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338386	NM_005461.5(MAFB):c.*1314A>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338387	NM_005461.5(MAFB):c.*1255C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338388	NM_005461.5(MAFB):c.*1226C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338389	NM_005461.5(MAFB):c.1212_1213insGAGGA	MAFB	Insertion (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338390	NM_005461.5(MAFB):c.*1210G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 896425	NM_005461.5(MAFB):c.*1171A>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 896426	NM_005461.5(MAFB):c.*1019A>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338391	NM_005461.5(MAFB):c.*1019A>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338392	NM_005461.5(MAFB):c.*976G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338393	NM_005461.5(MAFB):c.*929dup	MAFB	Duplication (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338394	NM_005461.5(MAFB):c.*929del	MAFB	Deletion (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338395	NM_005461.5(MAFB):c.*881G>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338396	NM_005461.5(MAFB):c.*795G>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898052	NM_005461.5(MAFB):c.*791C>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898053	NM_005461.5(MAFB):c.*565C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338397	NM_005461.5(MAFB):c.*503TGTC[1]	MAFB	Microsatellite (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GLikely benign
Select item 898054	NM_005461.5(MAFB):c.*415G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338398	NM_005461.5(MAFB):c.*410G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 224629	NC_000020.11:g.(?_40687489)_(40688460_?)del	MAFB	Deletion	Duane syndrome type 1 +1 more	GPathogenic
Select item 338399	NM_005461.5(MAFB):c.*377G>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898055	NM_005461.5(MAFB):c.*367G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338400	NM_005461.5(MAFB):c.*309A>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338401	NM_005461.5(MAFB):c.*229A>G	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338402	NM_005461.5(MAFB):c.*209A>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 899175	NM_005461.5(MAFB):c.*175G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338403	NM_005461.5(MAFB):c.*155C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 338404	NM_005461.5(MAFB):c.*152G>C	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338405	NM_005461.5(MAFB):c.*68G>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 338406	NM_005461.5(MAFB):c.*64C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338407	NM_005461.5(MAFB):c.*30C>A	MAFB	Single nucleotide variant (3 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GLikely benign
Select item 3052692	NM_005461.5(MAFB):c.*9C>T	MAFB	Single nucleotide variant (3 prime UTR variant)	MAFB-related disorder	GLikely benign
Select item 1383577	NM_005461.5(MAFB):c.955C>T (p.Pro319Ser)	MAFB (P319S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606590	NM_005461.5(MAFB):c.942C>T (p.Asp314=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808700	NM_005461.5(MAFB):c.920G>C (p.Arg307Thr)	MAFB (R307T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162006	NM_005461.5(MAFB):c.910T>G (p.Ser304Ala)	MAFB (S304A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2080782	NM_005461.5(MAFB):c.905C>T (p.Ala302Val)	MAFB (A302V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1521840	NM_005461.5(MAFB):c.890A>T (p.Lys297Met)	MAFB (K297M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803108	NM_005461.5(MAFB):c.888C>G (p.Val296=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2080784	NM_005461.5(MAFB):c.886G>A (p.Val296Ile)	MAFB (V296I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2703289	NM_005461.5(MAFB):c.866G>A (p.Arg289His)	MAFB (R289H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913449	NM_005461.5(MAFB):c.865C>T (p.Arg289Cys)	MAFB (R289C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2549852	NM_005461.5(MAFB):c.863C>T (p.Ala288Val)	MAFB (A288V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1933038	NM_005461.5(MAFB):c.834G>C (p.Glu278Asp)	MAFB (E278D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061824	NM_005461.5(MAFB):c.821T>C (p.Ile274Thr)	MAFB (I274T)	Single nucleotide variant (missense variant)	Brown syndrome	GUncertain significance
Select item 224628	NM_005461.5(MAFB):c.803del (p.Asn268fs)	MAFB (N268fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic
Select item 3234800	NM_005461.5(MAFB):c.781C>T (p.Gln261Ter)	MAFB (Q261*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2006978	NM_005461.5(MAFB):c.748G>T (p.Gly250Cys)	MAFB (G250C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630087	NM_005461.5(MAFB):c.745C>G (p.Arg249Gly)	MAFB (R249G)	Single nucleotide variant (missense variant)	MAFB-related disorder	GLikely pathogenic
Select item 338408	NM_005461.5(MAFB):c.745C>A (p.Arg249=)	MAFB	Single nucleotide variant (synonymous variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 784409	NM_005461.5(MAFB):c.714C>T (p.Arg238=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3007685	NM_005461.5(MAFB):c.708G>A (p.Val236=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011769	NM_005461.5(MAFB):c.705G>A (p.Glu235=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2319256	NM_005461.5(MAFB):c.694A>G (p.Thr232Ala)	MAFB (T232A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 895055	NM_005461.5(MAFB):c.648C>T (p.Leu216=)	MAFB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224627	NM_005461.5(MAFB):c.644del (p.Gln215fs)	MAFB (Q215fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic
Select item 1649915	NM_005461.5(MAFB):c.639C>T (p.Asp213=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 591097	NM_005461.5(MAFB):c.629G>T (p.Arg210Leu)	MAFB (R210L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498000	NM_005461.5(MAFB):c.581_618delinsGGGGAGAA (p.Ala194_Ser206delinsGlyGlyGlu)	MAFB	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1525186	NM_005461.5(MAFB):c.617G>A (p.Ser206Asn)	MAFB (S206N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2987252	NM_005461.5(MAFB):c.613G>A (p.Gly205Ser)	MAFB (G205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2029428	NM_005461.5(MAFB):c.607G>A (p.Gly203Ser)	MAFB (G203S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013075	NM_005461.5(MAFB):c.603G>C (p.Ala201=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795037	NM_005461.5(MAFB):c.585G>A (p.Thr195=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2241348	NM_005461.5(MAFB):c.578A>C (p.His193Pro)	MAFB (H193P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1512800	NM_005461.5(MAFB):c.577C>T (p.His193Tyr)	MAFB (H193Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2652323	NM_005461.5(MAFB):c.570C>G (p.Pro190=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634637	NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)	MAFB (G189R)	Single nucleotide variant (missense variant)	MAFB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1660438	NM_005461.5(MAFB):c.542A>T (p.Gln181Leu)	MAFB (Q181L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2964337	NM_005461.5(MAFB):c.528C>T (p.Ala176=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806002	NM_005461.5(MAFB):c.526G>A (p.Ala176Thr)	MAFB (A176T)	Single nucleotide variant (missense variant)	Duane retraction syndrome 3 with or without deafness +2 more	GUncertain significance
Select item 338409	NM_005461.5(MAFB):c.525C>G (p.Ser175Arg)	MAFB (S175R)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 2999771	NM_005461.5(MAFB):c.511C>T (p.Pro171Ser)	MAFB (P171S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559256	NM_005461.5(MAFB):c.494A>G (p.His165Arg)	MAFB (H165R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985542	NM_005461.5(MAFB):c.493C>T (p.His165Tyr)	MAFB (H165Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1567980	NM_005461.5(MAFB):c.471G>T (p.Pro157=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1480401	NM_005461.5(MAFB):c.457G>C (p.Asp153His)	MAFB (D153H)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +2 more	GUncertain significance
Select item 2682455	NM_005461.5(MAFB):c.452C>T (p.Ala151Val)	MAFB (A151V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252539	NM_005461.5(MAFB):c.448G>A (p.Val150Met)	MAFB (V150M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 224626	NM_005461.5(MAFB):c.440del (p.Gly147fs)	MAFB (G147fs)	Deletion (frameshift variant)	Duane syndrome type 1 +1 more	GPathogenic
Select item 2223907	NM_005461.5(MAFB):c.437C>T (p.Pro146Leu)	MAFB (P146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3010880	NM_005461.5(MAFB):c.436C>G (p.Pro146Ala)	MAFB (P146A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670371	NM_005461.5(MAFB):c.423G>C (p.Pro141=)	MAFB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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