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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAFB
(P59R)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely pathogenic
MAFB
(P68L)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely pathogenic
MAFB
(Q181L)
Single nucleotide variant
(missense variant)
Duane retraction syndrome 3 with or without deafness
+2 more
GBenign/Likely benign
MAFB
(E98D)
Single nucleotide variant
(missense variant)
MAFB-related disorder
+4 more
GConflicting classifications of pathogenicity
MAFB
(S206N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MAFB
(H193Y)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MAFB
(D153H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC130065872, MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
LOC130065872, MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(synonymous variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
(P75Q)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
(A110E)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
(S123T)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
+2 more
GConflicting classifications of pathogenicity
MAFB
(H131Q)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
+3 more
GConflicting classifications of pathogenicity
MAFB
Single nucleotide variant
(synonymous variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
(S66F)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely pathogenic
MAFB
(T62A)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
MAFB
(A176T)
Single nucleotide variant
(missense variant)
Duane retraction syndrome 3 with or without deafness
+2 more
GUncertain significance
MAFB
(T62I)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
MAFB
(T58R)
Single nucleotide variant
(missense variant)
Carpal osteolysis
GLikely pathogenic
MAFB
(P42L)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
+2 more
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
LOC130065872, MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely benign
MAFB
Deletion
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely benign
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(5 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(synonymous variant)
MAFB-related disorder
+2 more
GConflicting classifications of pathogenicity
MAFB
(L85M)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
+1 more
GBenign
MAFB
Single nucleotide variant
(synonymous variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
(S175R)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(synonymous variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
+1 more
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely benign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Microsatellite
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely benign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Deletion
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Duplication
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Insertion
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GLikely benign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Deletion
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Duplication
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GUncertain significance
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
Single nucleotide variant
(3 prime UTR variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GBenign
MAFB
(S54L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAFB
(P71L)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
MAFB
(P71S)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
MAFB
(S70L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
MAFB
(S70A)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
MAFB
(T62P)
Single nucleotide variant
(missense variant)
Multicentric carpo-tarsal osteolysis with or without nephropathy
GPathogenic
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