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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTC8
(S145fs +1 more)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 8
GPathogenic
TTC8
(Q179* +5 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 8
GPathogenic
TTC8
(K118Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 8
GUncertain significance
TTC8
(C27fs)
Duplication
(frameshift variant +2 more)
Bardet-Biedl syndrome 8
GLikely pathogenic
TTC8
(P132L +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
GUncertain significance
TTC8
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 8
GPathogenic
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 8
GUncertain significance
TTC8
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
TTC8
Single nucleotide variant
(synonymous variant +2 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 8
+3 more
GLikely benign
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 8
+2 more
GLikely benign
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 51
+2 more
GLikely benign
TTC8
(H270Y +5 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
TTC8
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
TTC8
(A130V +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 8
+2 more
GUncertain significance
TTC8
(P35H)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+1 more
GUncertain significance
TTC8
(I151N +1 more)
Single nucleotide variant
(missense variant +2 more)
TTC8-related disorder
+4 more
GUncertain significance
TTC8
(G103V +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
TTC8
(Q216K +5 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 51
+2 more
GConflicting classifications of pathogenicity
TTC8
(M265V +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 8
+2 more
GUncertain significance
TTC8
(F15L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 8
+2 more
GUncertain significance
TTC8
(I464V +5 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 8
GUncertain significance
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 51
+2 more
GBenign/Likely benign
TTC8
Single nucleotide variant
(synonymous variant +2 more)
Retinal dystrophy
+3 more
GLikely benign
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 51
+2 more
GLikely benign
TTC8
(M139T +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 51
+2 more
GUncertain significance
TTC8
(G121S +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related disorder
+3 more
GUncertain significance
TTC8
(E129G +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 51
+2 more
GUncertain significance
TTC8
(Q177* +1 more)
Single nucleotide variant
(nonsense +3 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
TTC8
Deletion
Bardet-Biedl syndrome 8
GPathogenic
TTC8
(C23fs)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 8
GLikely pathogenic
TTC8
(V252I +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 51
+2 more
GUncertain significance
TTC8
(H365Q +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related disorder
+3 more
GUncertain significance
TTC8
(T153M +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinal dystrophy
+3 more
GUncertain significance
TTC8
(S2G)
Single nucleotide variant
(missense variant +2 more)
TTC8-related disorder
+4 more
GConflicting classifications of pathogenicity
TTC8
(L46F +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 51
+2 more
GUncertain significance
TTC8
(C194Y +4 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
GLikely pathogenic
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
(A16T +4 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+2 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GBenign/Likely benign
TTC8
(I139M +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+1 more
GUncertain significance
TTC8
(T102I +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
(F150L +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
TTC8
(E317A +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
TTC8
(V283D +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+4 more
GUncertain significance
TTC8
(A330T +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
TTC8
(E193K +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related disorder
+4 more
GUncertain significance
TTC8
(E163K +2 more)
Single nucleotide variant
(missense variant +3 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
TTC8
(R411T +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related disorder
+4 more
GUncertain significance
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 8
+3 more
GLikely benign
TTC8
Deletion
(splice donor variant)
Retinitis pigmentosa 51
+1 more
GLikely pathogenic
TTC8
(A135T +1 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+4 more
GUncertain significance
TTC8
(R443W +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 51
+5 more
GConflicting classifications of pathogenicity
TTC8
(Q408R +5 more)
Single nucleotide variant
(missense variant +1 more)
TTC8-related disorder
+5 more
GConflicting classifications of pathogenicity
TTC8
(R341W +5 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 8
+3 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 8
+1 more
GBenign
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+2 more
GBenign
TTC8
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
TTC8
(A478V +7 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
TTC8
(T473A +5 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+4 more
GUncertain significance
TTC8
(A451V +5 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 8
+3 more
GUncertain significance
TTC8
(Y292C +5 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+4 more
GUncertain significance
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
TTC8
(T82M +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
+4 more
GUncertain significance
TTC8
(S2N)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(5 prime UTR variant +1 more)
Retinitis pigmentosa
+1 more
GUncertain significance
TTC8
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GConflicting classifications of pathogenicity
TTC8
(D65G +1 more)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
+3 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+3 more
GBenign
TTC8
Single nucleotide variant
(synonymous variant +2 more)
TTC8-related disorder
+4 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 8
+2 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+3 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+4 more
GConflicting classifications of pathogenicity
TTC8
(K95R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(synonymous variant +2 more)
Retinitis pigmentosa
+5 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTC8
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GPathogenic
TTC8
Single nucleotide variant
(synonymous variant +2 more)
TTC8-related disorder
+7 more
GConflicting classifications of pathogenicity
TTC8
Deletion
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
TTC8
Deletion
(inframe_deletion +3 more)
Bardet-Biedl syndrome 8
GPathogenic
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