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Links from MedGen

Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASTN2, TRIM32
(L289fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 11
GLikely pathogenic
ASTN2, TRIM32
(R193C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
ASTN2, TRIM32
(K247E)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
TRIM32, ASTN2
(N372S)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(P329R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(V379M)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(R165Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(L281P)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(S651P)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
ASTN2, TRIM32
(R45H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(L441V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(R201C)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+3 more
GUncertain significance
ASTN2, TRIM32
(S114N)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+2 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GLikely benign
ASTN2, TRIM32
(V591M)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R45C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ASTN2, TRIM32
(R165W)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(R155P)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(R299Q)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
(R540W)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
ASTN2, TRIM32
(R596H)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+3 more
GUncertain significance
ASTN2, TRIM32
(A141E)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(Q354R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
ASTN2, TRIM32
(R400L)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(R105Q)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(R400C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
ASTN2, TRIM32
(R271G)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
ASTN2, TRIM32
(M325V)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(intron variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
(L153fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+3 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
(R165L)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
(R69H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(R515Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
(E614K)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+2 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
(G525C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
(R106H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 11
+4 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(M436V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GBenign
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
TRIM32, ASTN2
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
(L11P)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+4 more
GUncertain significance
ASTN2, TRIM32
(E93K)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
ASTN2, TRIM32
(R193H)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+3 more
GUncertain significance
ASTN2, TRIM32
(A89T)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+5 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
(R101Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(R109W)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ASTN2, TRIM32
(R145Q)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+3 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Sarcotubular myopathy
+3 more
GBenign/Likely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
TRIM32-related disorder
+3 more
GBenign/Likely benign
ASTN2, TRIM32
(A126V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(M160T)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
ASTN2, TRIM32
(Y378fs)
Microsatellite
(intron variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GPathogenic/Likely pathogenic
ASTN2, TRIM32
(R155S)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GUncertain significance
ASTN2, TRIM32
(L163P)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(F496L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
ASTN2, TRIM32
(R540Q)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+3 more
GUncertain significance
ASTN2, TRIM32
(P288H)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
TRIM32, ASTN2
(I230V)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+4 more
GUncertain significance
ASTN2, TRIM32
(K297E)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+4 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(intron variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
TRIM32, ASTN2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+3 more
GLikely benign
ASTN2, TRIM32
(R166W)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
ASTN2, TRIM32
(N217S)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GUncertain significance
ASTN2, TRIM32
(R147Q)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+3 more
GUncertain significance
ASTN2, TRIM32
(A349G)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
ASTN2, TRIM32
(A338T)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+5 more
GUncertain significance
ASTN2, TRIM32
(R390C)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 11
+3 more
GUncertain significance
ASTN2, TRIM32
(M327V)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+4 more
GUncertain significance
ASTN2, TRIM32
(I43V)
Single nucleotide variant
(missense variant +1 more)
Sarcotubular myopathy
+5 more
GUncertain significance
ASTN2, TRIM32
(R271W)
Single nucleotide variant
(missense variant +1 more)
TRIM32-related disorder
+5 more
GUncertain significance
TRIM32, ASTN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GBenign
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+2 more
GConflicting classifications of pathogenicity
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
TRIM32, ASTN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
TRIM32, ASTN2
Single nucleotide variant
(3 prime UTR variant +1 more)
Sarcotubular myopathy
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+1 more
GUncertain significance
ASTN2, TRIM32
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 11
+2 more
GConflicting classifications of pathogenicity
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