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Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+2 more
GBenign/Likely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Duplication
(splice donor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(K1317*)
Single nucleotide variant
(nonsense)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, LOC126806173
(W1315*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 71
+1 more
GPathogenic
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GLikely benign
IFT172, LOC126806173
(A1311V)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(G1287D +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(G1287S +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+2 more
GLikely benign
IFT172, LOC126806173
(N1307K)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+2 more
GConflicting classifications of pathogenicity
IFT172, LOC126806173
(S1305fs +1 more)
Microsatellite
(frameshift variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
LOC126806173, IFT172
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+4 more
GBenign
IFT172, LOC126806173
(D1304Y +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
(R1303Q)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GUncertain significance
IFT172, LOC126806173
(R1303*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 71
+1 more
GPathogenic
IFT172, LOC126806173
(K1301R +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
(V1296M)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
IFT172, LOC126806173
(R1294H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
(R1294C)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GConflicting classifications of pathogenicity
IFT172, LOC126806173
(S1293G)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(E1291K)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
(A1289D)
Single nucleotide variant
(missense variant)
IFT172-related disorder
+2 more
GUncertain significance
IFT172, LOC126806173
(E1287K)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(H1285Q)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
(R1284Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
IFT172, LOC126806173
(R1284*)
Single nucleotide variant
(nonsense)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
IFT172, LOC126806173
(Q1282K)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
(F1279S)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(G1275D +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
LOC126806173, IFT172
(G1275V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+4 more
GConflicting classifications of pathogenicity
IFT172, LOC126806173
Deletion
(splice acceptor variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Microsatellite
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
LOC126806173, IFT172
(K1249N +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+3 more
GUncertain significance
IFT172, LOC126806173
(K1271E +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(R1244Q +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
LOC126806173, IFT172
(R1266W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
(E1243Q +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(E1265*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 71
+2 more
GPathogenic/Likely pathogenic
IFT172, LOC126806173
(Y1264F +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(L1260V)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+3 more
GUncertain significance
LOC126806173, IFT172
(E1258K)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
IFT172, LOC126806173
(Q1256R)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Deletion
(inframe_deletion)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(D1251V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+2 more
GUncertain significance
IFT172, LOC126806173
(C1249Y)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(R1247C)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
(D1244N +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(S1243I)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
(E1216K +1 more)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(splice acceptor variant)
Retinitis pigmentosa 71
+1 more
GLikely pathogenic
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+2 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, LOC126806173
(N1234S +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
LOC126806173, IFT172
(N1234H)
Single nucleotide variant
(missense variant)
IFT172-related disorder
+4 more
GUncertain significance
IFT172, LOC126806173
(R1225Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
IFT172, LOC126806173
(R1225W)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, LOC126806173
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 71
+2 more
GLikely benign
IFT172, LOC126806173
(G1221A)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, LOC126806173
(Q1217fs)
Duplication
(frameshift variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, LOC126806173
(D1215N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 20
+2 more
GUncertain significance
IFT172, LOC126806173
(E1191K +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 71
+3 more
GUncertain significance
IFT172, LOC126806173
(E1212K)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
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