U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(R56C)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Meckel syndrome, type 5
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(E654D)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(T1034I +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(D1133N +3 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(I208V)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(N213K)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(E458K)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant +1 more)
Meckel syndrome, type 5
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(A1111T +1 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 8
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
(T32I)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
(V1257M +3 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+6 more
GUncertain significance
RPGRIP1L
(Q1241R +3 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+3 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(G98S)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+6 more
GUncertain significance
RPGRIP1L
(H1004Y)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 7
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Joubert syndrome 7
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(N800T)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+8 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Nephronophthisis 8
+5 more
GConflicting classifications of pathogenicity
RPGRIP1L
(N210D)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+7 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(L57F)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
RPGRIP1L
(D73H)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+8 more
GUncertain significance
RPGRIP1L
(R84Q)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(G98V)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+3 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(Y362C)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R444H)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
RPGRIP1L
(M528I)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
(E654K)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R734Q)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+6 more
GUncertain significance
RPGRIP1L
(T776I)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+4 more
GUncertain significance
RPGRIP1L
(R805Q)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
RPGRIP1L
(V846A)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Joubert syndrome 7
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
RPGRIP1L
(S976T)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+3 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+5 more
GBenign/Likely benign
RPGRIP1L
(Q1051H +1 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(S1026F +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
(P1193L +3 more)
Single nucleotide variant
(missense variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
(F1200S +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+3 more
GBenign
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GBenign
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+3 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Nephronophthisis 8
+2 more
GBenign
RPGRIP1L
Single nucleotide variant
(3 prime UTR variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(E604K)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R561H)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
(D304N)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+7 more
GUncertain significance
RPGRIP1L
(R321H)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+8 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+7 more
GConflicting classifications of pathogenicity
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+6 more
GConflicting classifications of pathogenicity
RPGRIP1L
(I1071L +3 more)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination