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Items: 1 to 100 of 2204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIS3L2
(W480*)
Single nucleotide variant
(nonsense +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(D204E)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(C146W)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(A237V)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(P860L)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(D881Y)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
(L399F)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(E473K)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G29C)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Deletion
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(D130G)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(Q542R)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
(V426A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(P418Q)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(L607Q)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Duplication
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(R65K)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(Y279C)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(non-coding transcript variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
(L282F)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(M54T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant +1 more)
Perlman syndrome
GLikely pathogenic
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(I572V)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Deletion
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
(V19M)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(G24A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(K658T)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
(K511E)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(T67A)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(L621V)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
(K813Q)
Indel
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(G341D)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(C312R)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GUncertain significance
DIS3L2
(S499N)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(P504L)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(G66E)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(L394F)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(A30T)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Deletion
(intron variant)
Perlman syndrome
GBenign
DIS3L2
(E429Q)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(V99I)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GUncertain significance
DIS3L2
(Y573F)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(non-coding transcript variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(S414N)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Deletion
(intron variant)
Perlman syndrome
GBenign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
(G790D)
Single nucleotide variant
(missense variant +2 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(A387S)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(L267fs)
Duplication
(frameshift variant +1 more)
Perlman syndrome
GPathogenic
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(intron variant)
Perlman syndrome
GLikely benign
DIS3L2
(Q318L)
Single nucleotide variant
(missense variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
(A320fs)
Deletion
(frameshift variant +1 more)
Perlman syndrome
GPathogenic
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
DIS3L2
Single nucleotide variant
(synonymous variant +1 more)
Perlman syndrome
GUncertain significance
DIS3L2
Single nucleotide variant
(synonymous variant +2 more)
Perlman syndrome
GLikely benign
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