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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIFC1, LEMD2
+172 more
Duplication
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R212W +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R87W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PSMB8
(H233R +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8, TAP2
Duplication
Proteasome-associated autoinflammatory syndrome 1
+1 more
GUncertain significance
PSMB8
(E48K +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(S34G)
Single nucleotide variant
(missense variant +1 more)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(V61I +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(D262E +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(G205R +1 more)
Single nucleotide variant
(missense variant)
Proteosome-associated autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
(E218D +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
(R137Q +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R163W +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(P217L +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
+1 more
GConflicting classifications of pathogenicity
PSMB8
(R87Q +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(V245I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PSMB8
(P107T +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(G178R +1 more)
Single nucleotide variant
(missense variant)
Proteosome-associated autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
(R137* +1 more)
Single nucleotide variant
(nonsense)
Proteasome-associated autoinflammatory syndrome 1
GPathogenic
PSMB8
(M161V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PSMB8
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GBenign
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(D119N +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R129C +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
+1 more
GUncertain significance
PSMB8
(M113T +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R46Q)
Single nucleotide variant
(missense variant +1 more)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(G205R +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(R192Q +1 more)
Single nucleotide variant
(missense variant)
Autoinflammatory syndrome
+1 more
GUncertain significance
PSMB8
(R125H +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
Single nucleotide variant
(synonymous variant)
Proteasome-associated autoinflammatory syndrome 1
GLikely benign
PSMB8
Single nucleotide variant
(synonymous variant)
PSMB8-related disorder
+1 more
GLikely benign
PSMB8
(I228T +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(T75M +1 more)
Single nucleotide variant
(missense variant)
Proteosome-associated autoinflammatory syndrome
+2 more
GPathogenic
PSMB8
(I169V +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(C124S +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(F76L +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(A73T +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
+1 more
GUncertain significance
PSMB8
(A220S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PSMB8
(M211I +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(G244D +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(S52C +1 more)
Indel
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB4
(Y222*)
Single nucleotide variant
(nonsense)
Proteasome-associated autoinflammatory syndrome 1
GPathogenic
PSMB8
(K105Q +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GPathogenic
PSMB8
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+3 more
GBenign/Likely benign
PSMB8
(R268Q +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
Single nucleotide variant
(synonymous variant)
Proteasome-associated autoinflammatory syndrome 1
+4 more
GBenign/Likely benign
PSMB8
Single nucleotide variant
(synonymous variant)
Proteosome-associated autoinflammatory syndrome
+2 more
GBenign
PSMB8
(T70S +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
+3 more
GBenign/Likely benign
PSMB8
Single nucleotide variant
(5 prime UTR variant +1 more)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(G8R)
Single nucleotide variant
(missense variant +1 more)
Proteosome-associated autoinflammatory syndrome
+3 more
GBenign/Likely benign
PSMB8
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign
PSMB8
(Q49K)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign
PSMB8
(S52Y +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
Single nucleotide variant
(synonymous variant)
Proteosome-associated autoinflammatory syndrome
+2 more
GBenign
PSMB8
Single nucleotide variant
(intron variant)
Proteosome-associated autoinflammatory syndrome
+3 more
GBenign
PSMB8
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+3 more
GBenign/Likely benign
PSMB8
(R225H +1 more)
Single nucleotide variant
(missense variant)
Proteosome-associated autoinflammatory syndrome
+2 more
GConflicting classifications of pathogenicity
PSMB8
(Y230C +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
+2 more
GConflicting classifications of pathogenicity
PSMB8
Single nucleotide variant
(synonymous variant)
Autoinflammatory syndrome
+4 more
GConflicting classifications of pathogenicity
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Autoinflammatory syndrome
+2 more
GUncertain significance
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Autoinflammatory syndrome
+1 more
GConflicting classifications of pathogenicity
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GBenign
PSMB8
Single nucleotide variant
(3 prime UTR variant)
Proteasome-associated autoinflammatory syndrome 1
GUncertain significance
PSMB8
(C135* +1 more)
Single nucleotide variant
(nonsense)
Proteosome-associated autoinflammatory syndrome
GPathogenic
PSMB8
(G197V +1 more)
Single nucleotide variant
(missense variant)
Proteasome-associated autoinflammatory syndrome 1
GPathogenic
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