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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT140
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GLikely benign
IFT140
(R1403Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 80
+2 more
GConflicting classifications of pathogenicity
IFT140
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
IFT140
(R1346C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IFT140
(Q1331H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
IFT140
(Q1331*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IFT140
(A1330T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 80
+3 more
GBenign/Likely benign
IFT140
Single nucleotide variant
(intron variant)
Saldino-Mainzer syndrome
+1 more
GConflicting classifications of pathogenicity
IFT140
(R1277Q)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+1 more
GUncertain significance
IFT140
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
IFT140
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT140
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT140, LOC126862260
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
IFT140, LOC126862260
Single nucleotide variant
(synonymous variant)
Saldino-Mainzer syndrome
+1 more
GConflicting classifications of pathogenicity
LOC126862260, IFT140
(E925K)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+2 more
GUncertain significance
IFT140
(R919Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IFT140
(D873N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFT140
(V851M)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GConflicting classifications of pathogenicity
IFT140
(R848C)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+2 more
GConflicting classifications of pathogenicity
IFT140
(R837G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IFT140
(A835V)
Single nucleotide variant
(missense variant)
IFT140-related condition
+2 more
GConflicting classifications of pathogenicity
IFT140
(D787G)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+2 more
GConflicting classifications of pathogenicity
IFT140
(R576Q)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 80
+2 more
GConflicting classifications of pathogenicity
IFT140
(H556R)
Single nucleotide variant
(missense variant)
IFT140-related condition
+2 more
GConflicting classifications of pathogenicity
IFT140
(T520I)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+2 more
GUncertain significance
IFT140
(L514Q)
Indel
(missense variant)
Retinitis pigmentosa 80
+2 more
GConflicting classifications of pathogenicity
IFT140
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
IFT140
(L514H)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GBenign/Likely benign
IFT140, LOC105371046
(I446V)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GBenign/Likely benign
IFT140, LOC105371046
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC105371046, IFT140
(R253Q)
Single nucleotide variant
(missense variant)
IFT140-related condition
+3 more
GConflicting classifications of pathogenicity
IFT140, LOC105371046
(L166P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC105371046, IFT140
(V108M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
IFT140, LOC105371046
(V53M)
Single nucleotide variant
(missense variant)
Saldino-Mainzer syndrome
+1 more
GUncertain significance
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