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Links from MedGen

Items: 1 to 100 of 386

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVK
(T126I +1 more)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
GUncertain significance
MVK
Deletion
Hyperimmunoglobulin D with periodic fever
+2 more
GPathogenic
MVK, UBE3B
+1 more
Duplication
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
(L212fs +1 more)
Duplication
(frameshift variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GPathogenic
MVK
(I58V)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
(Y116fs)
Duplication
(frameshift variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GPathogenic
MVK
(I298T +3 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GLikely pathogenic
MVK
(C161fs)
Microsatellite
(frameshift variant +1 more)
Mevalonic aciduria
+2 more
GPathogenic
MVK
(L117P)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(A384D +5 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(V160E)
Single nucleotide variant
(missense variant +1 more)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(A313D +3 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(R142I +1 more)
Single nucleotide variant
(missense variant +2 more)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(non-coding transcript variant +2 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(G281D +3 more)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
(L153P)
Single nucleotide variant
(missense variant +1 more)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +3 more)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
(S381L +3 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Duplication
(frameshift variant +1 more)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
(P167Q)
Single nucleotide variant
(missense variant +1 more)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely pathogenic
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
(L30* +2 more)
Single nucleotide variant
(nonsense)
Hyperimmunoglobulin D with periodic fever
+2 more
GPathogenic
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Microsatellite
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(Y114C)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +3 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
(A65V)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(S175W +3 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(V209M +3 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Deletion
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Inversion
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(T43A +3 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(R32K +3 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(splice acceptor variant)
Mevalonic aciduria
+2 more
GLikely pathogenic
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +2 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
(G312fs +1 more)
Deletion
(frameshift variant)
Mevalonic aciduria
+2 more
GPathogenic
MVK
Single nucleotide variant
(splice donor variant)
Mevalonic aciduria
+2 more
GLikely pathogenic
MVK
(A119V +3 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
(Q68R)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +3 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
(R131C +3 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(E349A +5 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +2 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
(E155Q +5 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(G146A +3 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(I164N)
Single nucleotide variant
(missense variant +1 more)
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +1 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(L29P)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GUncertain significance
MVK
(L162H +1 more)
Single nucleotide variant
(missense variant)
Mevalonic aciduria
+2 more
GUncertain significance
MVK
(D314Y +1 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +1 more)
Autoinflammatory syndrome
+3 more
GConflicting classifications of pathogenicity
MVK
(A21V)
Single nucleotide variant
(missense variant)
Hyperimmunoglobulin D with periodic fever
GLikely pathogenic
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +1 more)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +1 more)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant)
Mevalonic aciduria
+2 more
GLikely benign
MVK
Single nucleotide variant
(intron variant)
Hyperimmunoglobulin D with periodic fever
+2 more
GLikely benign
MVK
(A270D +1 more)
Single nucleotide variant
(missense variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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