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Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASTN2, TRIM32
Single nucleotide variant
(5 prime UTR variant +1 more)
TRIM32-related condition
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(H8Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIM32, ASTN2
(R15Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R33H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(C39fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
ASTN2, TRIM32
(I43V)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(I86T)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+4 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+4 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(L98I)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R124W)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(T135I)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
(V138G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
(E144K)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
ASTN2, TRIM32
(R155S)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(R155H)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+4 more
GUncertain significance
ASTN2, TRIM32
(L156P)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+5 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(M160I)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+4 more
GUncertain significance
ASTN2, TRIM32
(R166W)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ASTN2, TRIM32
(R166Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+3 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(L170*)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
ASTN2, TRIM32
(S174F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+5 more
GUncertain significance
ASTN2, TRIM32
(K175R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(Q186H)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+5 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(N217S)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(I230V)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
ASTN2, TRIM32
(A231fs)
Deletion
(intron variant +1 more)
Limb-girdle muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(Q234K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(T257R)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(K282R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(I291M)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ASTN2, TRIM32
(V303M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ASTN2, TRIM32
(W307fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
ASTN2, TRIM32
(A313V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(P329L)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
(S335N)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
(A349G)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GUncertain significance
ASTN2, TRIM32
(N351D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(G365S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(M370fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
TRIM32, ASTN2
(N372D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(V375G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
(Y378fs)
Microsatellite
(intron variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+3 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(A388T)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
(R390C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(Y393C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(R394C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(R394H)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R400H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(R408C)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R408H)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+4 more
GUncertain significance
ASTN2, TRIM32
(R409H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+2 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(L452F)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+4 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(A463P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related condition
+4 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(E524fs)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
(V527F)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
ASTN2, TRIM32
(V527I)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(F550L)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GUncertain significance
ASTN2, TRIM32
(I552S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R576H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIM32, ASTN2
(S594G)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
(R596C)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(I612F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRIM32, ASTN2
(R613Q)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
(P619R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(G628R)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related condition
+2 more
GUncertain significance
TRIM32, ASTN2
(S644G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ASTN2, TRIM32
(T652A)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(P653S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GConflicting classifications of pathogenicity
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