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Links from MedGen

Items: 1 to 100 of 558

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVK
Deletion
Mevalonic aciduria
+2 more
GPathogenic
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(Q383* +3 more)
Single nucleotide variant
(nonsense +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Deletion
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(K220T +2 more)
Single nucleotide variant
(missense variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(R306K +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(A380fs +5 more)
Deletion
(frameshift variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(L129fs)
Deletion
(frameshift variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(W16* +2 more)
Single nucleotide variant
(nonsense +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +2 more)
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)
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
(L343F +3 more)
Single nucleotide variant
(missense variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(P181L +3 more)
Single nucleotide variant
(missense variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(intron variant)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(R60Q)
Single nucleotide variant
(missense variant +2 more)
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
Single nucleotide variant
(synonymous variant +3 more)
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 +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(K44* +3 more)
Single nucleotide variant
(nonsense +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(Q42P)
Single nucleotide variant
(missense variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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
(S222fs +2 more)
Deletion
(frameshift variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(non-coding transcript variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(G132* +3 more)
Single nucleotide variant
(nonsense +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
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)
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 +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
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
(E193K +1 more)
Single nucleotide variant
(missense variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(L30fs +2 more)
Duplication
(frameshift variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(L212V +3 more)
Single nucleotide variant
(missense variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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)
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
(L16fs)
Deletion
(frameshift variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
Single nucleotide variant
(synonymous variant +1 more)
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 +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(G140V)
Single nucleotide variant
(missense variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(I260F +3 more)
Single nucleotide variant
(missense variant +1 more)
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
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
Single nucleotide variant
(synonymous variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(Q77R)
Single nucleotide variant
(missense variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
MVK
(S361N +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +3 more)
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 +2 more)
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 +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(T304A +3 more)
Single nucleotide variant
(missense variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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 +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
(L70fs)
Deletion
(frameshift variant +2 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GPathogenic
MVK
(C81Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
MVK
Single nucleotide variant
(synonymous variant +2 more)
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)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GLikely benign
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)
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
(V174F)
Single nucleotide variant
(missense variant +3 more)
Porokeratosis 3, disseminated superficial actinic type
+2 more
GUncertain significance
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