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Items: 1 to 100 of 1051

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNGB1
(E1245Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(E1242A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1243L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(L1238P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(L1232V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(E1229G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
CNGB1-related condition
+1 more
GLikely benign
CNGB1
(P1225L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB1
(G1224fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1223L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(S1228I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(M1221I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(I1219N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(R1218M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(S1222L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(S1216T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(H1215R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(E1213Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1218H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1209T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(E1213D +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
CNGB1
(E1206K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(G1210V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(G1200R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1197Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(P1191S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(S1195C +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
(S1189fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1187L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(P1187S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(E1185K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(R1187Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNGB1
(R1181W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(P1186S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(D1176E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(T1175I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(E1172V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(P1176L +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 45
+2 more
GBenign/Likely benign
CNGB1
(T1174M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(Q1166R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1169V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(A1163T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(E1159K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(G1157E +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CNGB1
Inversion
(intron variant)
not provided
GLikely benign
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 45
+2 more
GBenign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1140E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1138V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(L1142V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1135V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(A1141T +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+1 more
GLikely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1134V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(A1134S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(L1133P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(L1133V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNGB1
(R1129Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(R1135W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(R1127Q +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+1 more
GUncertain significance
CNGB1
(R1127W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(K1122N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(G1127S +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+1 more
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+2 more
GBenign/Likely benign
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CNGB1
(M1113L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(K1118R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
(A1114T +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
CNGB1
(L1107I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CNGB1
(A1111T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNGB1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNGB1
(L1102F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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