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Links from MedGen

Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP20
(Q376*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A2
GLikely pathogenic
MMP20
(G177E)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(N120fs)
Duplication
(frameshift variant)
Amelogenesis imperfecta hypomaturation type 2A2
GLikely pathogenic
MMP20
(Y454*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A2
GLikely pathogenic
MMP20, MMP20-AS1
(H230Q)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(A349V +1 more)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20, MMP20-AS1
Indel
(splice donor variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20
(Q374H)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20-AS1, MMP20
(S237Y)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20
(E209Q)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GLikely pathogenic
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(G214A)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(T215M)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(V223I)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
+1 more
GBenign
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
MMP20-related disorder
+1 more
GConflicting classifications of pathogenicity
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(A23T)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
+1 more
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(T370A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(intron variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(intron variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(F456L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP20
(S473N)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(V475A)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP20
(G438A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP20
(T130I)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
+2 more
GConflicting classifications of pathogenicity
MMP20
(P31L)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
+1 more
GConflicting classifications of pathogenicity
MMP20
(G85E)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(M92V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MMP20
(K97*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(intron variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(K128T)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(D139N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MMP20
(A152T)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(I169L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(P253S)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
+1 more
GUncertain significance
MMP20
(Y270H)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MMP20
(L295V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMP20
(A304T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMP20
(P379L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMP20
(L407F)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(intron variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(synonymous variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(S477C)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
Single nucleotide variant
(3 prime UTR variant)
Amelogenesis imperfecta hypomaturation type 2A2
GUncertain significance
MMP20
(T281N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MMP20
(V275A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MMP20
(K18T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MMP20, MMP20-AS1
(H204R)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20, MMP20-AS1
(W34*)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20, MMP20-AS1
(H226Q)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A2
GPathogenic
MMP20
Single nucleotide variant
(splice acceptor variant)
MMP20-related disorder
+2 more
GConflicting classifications of pathogenicity
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