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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
(R1293T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1L
(D1198N +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
RPGRIP1L
(D1169Y +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
RPGRIP1L
(V1160A +3 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GUncertain significance
RPGRIP1L
(V1159M +3 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
RPGRIP1L
(R1156C +3 more)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+9 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(A1103G +3 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+6 more
GBenign/Likely benign
RPGRIP1L
(P1102A +3 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
not provided
+5 more
GUncertain significance
RPGRIP1L
(T1143S +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+5 more
GBenign
RPGRIP1L
(Q1132R +1 more)
Single nucleotide variant
(missense variant +1 more)
Meckel syndrome, type 5
+7 more
GBenign/Likely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant +1 more)
Kidney disorder
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(P1121L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial aplasia of the vermis
+3 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
RPGRIP1L-related condition
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(I936S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(P906S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(N881K)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(Q872*)
Single nucleotide variant
(nonsense)
RPGRIP1L-related condition
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+2 more
GConflicting classifications of pathogenicity
RPGRIP1L
(L809V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
RPGRIP1L
(R805*)
Single nucleotide variant
(nonsense)
Joubert syndrome 7
+5 more
GPathogenic
RPGRIP1L
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R747Q)
Single nucleotide variant
(missense variant)
RPGRIP1L-related condition
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R744Q)
Single nucleotide variant
(missense variant)
Kidney disorder
+6 more
GBenign/Likely benign
RPGRIP1L
(R734Q)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+6 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R709*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+6 more
GPathogenic/Likely pathogenic
RPGRIP1L
(K706T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1L
(T677I)
Single nucleotide variant
(missense variant)
RPGRIP1L-related condition
+3 more
GBenign/Likely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RPGRIP1L
(E604K)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R561H)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+7 more
GUncertain significance
RPGRIP1L
(E531G)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
RPGRIP1L
(K473N)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
RPGRIP1L-related condition
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
(L447S)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R444fs)
Duplication
(frameshift variant)
Meckel-Gruber syndrome
+5 more
GPathogenic/Likely pathogenic
RPGRIP1L
(K386E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R321H)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
RPGRIP1L
(D304N)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+7 more
GUncertain significance
RPGRIP1L
(A229T)
Single nucleotide variant
(missense variant)
not specified
+6 more
GBenign
RPGRIP1L
(V214I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
(I178V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(A168T)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R161H)
Single nucleotide variant
(missense variant)
RPGRIP1L-related condition
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
(Q154E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1L
(Q114R)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+2 more
GBenign/Likely benign
RPGRIP1L
(R39H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
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