C2674705[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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	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 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	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	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	GLikely benign
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 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 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 895056	NM_005461.5(MAFB):c.420C>T (p.His140=)	MAFB	Single nucleotide variant (synonymous variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338410	NM_005461.5(MAFB):c.399C>T (p.His133=)	MAFB	Single nucleotide variant (synonymous variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 895057	NM_005461.5(MAFB):c.393C>A (p.His131Gln)	MAFB (H131Q)	Single nucleotide variant (missense variant)	MAFB-related condition +3 more	GConflicting classifications of pathogenicity
Select item 895058	NM_005461.5(MAFB):c.368G>C (p.Ser123Thr)	MAFB (S123T)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +2 more	GConflicting classifications of pathogenicity
Select item 895059	NM_005461.5(MAFB):c.329C>A (p.Ala110Glu)	MAFB (A110E)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338411	NM_005461.5(MAFB):c.253C>A (p.Leu85Met)	MAFB (L85M)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +1 more	GBenign
Select item 896499	NM_005461.5(MAFB):c.224C>A (p.Pro75Gln)	MAFB (P75Q)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 30772	NM_005461.5(MAFB):c.212C>T (p.Pro71Leu)	MAFB (P71L)	Single nucleotide variant (missense variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GPathogenic
Select item 338412	NM_005461.5(MAFB):c.189G>A (p.Pro63=)	MAFB	Single nucleotide variant (synonymous variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy +2 more	GConflicting classifications of pathogenicity
Select item 896500	NM_005461.5(MAFB):c.153A>G (p.Pro51=)	MAFB	Single nucleotide variant (synonymous variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338413	NM_005461.5(MAFB):c.-75C>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 896501	NM_005461.5(MAFB):c.-76C>A	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338414	NM_005461.5(MAFB):c.-77C>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 896502	NM_005461.5(MAFB):c.-82T>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898124	NM_005461.5(MAFB):c.-130C>T	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338415	NM_005461.5(MAFB):c.-138G>T	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338416	NM_005461.5(MAFB):c.-171C>A	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338417	NM_005461.5(MAFB):c.-204_-203del	MAFB	Deletion (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GLikely benign
Select item 338418	NM_005461.5(MAFB):c.-206T>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GLikely benign
Select item 898125	NM_005461.5(MAFB):c.-211A>C	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898126	NM_005461.5(MAFB):c.-222G>T	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 898127	NM_005461.5(MAFB):c.-225C>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338419	NM_005461.5(MAFB):c.-229C>T	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 899235	NM_005461.5(MAFB):c.-269G>C	LOC130065872, MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 899236	NM_005461.5(MAFB):c.-297G>T	LOC130065872, MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance
Select item 338420	NM_005461.5(MAFB):c.-310G>A	LOC130065872, MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GBenign
Select item 338421	NM_005461.5(MAFB):c.-338A>G	MAFB	Single nucleotide variant (5 prime UTR variant)	Multicentric carpo-tarsal osteolysis with or without nephropathy	GUncertain significance

ClinVar

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Items: 75