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Links from MedGen

Items: 1 to 100 of 293

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
Deletion
(frameshift variant +1 more)
Joubert syndrome 7
GLikely benign
RPGRIP1L
(P964fs)
Deletion
(frameshift variant)
Joubert syndrome 7
GLikely pathogenic
RPGRIP1L
(Q147*)
Single nucleotide variant
(nonsense)
Joubert syndrome 7
GLikely pathogenic
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+5 more
GBenign/Likely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
COACH syndrome 3
+4 more
GConflicting classifications of pathogenicity
RPGRIP1L
(R1070Q +3 more)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+4 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(splice donor variant)
Meckel syndrome, type 5
+4 more
GLikely pathogenic
RPGRIP1L
(A573T)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
RPGRIP1L
(Y638C)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+4 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
(D595E)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(Y864H)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+4 more
GUncertain significance
RPGRIP1L
(R747*)
Single nucleotide variant
(nonsense)
Joubert syndrome and related disorders
+5 more
GPathogenic/Likely pathogenic
RPGRIP1L
(M24fs)
Duplication
(frameshift variant)
Meckel-Gruber syndrome
+5 more
GPathogenic/Likely pathogenic
RPGRIP1L
(L200*)
Single nucleotide variant
(nonsense)
COACH syndrome 3
+4 more
GPathogenic/Likely pathogenic
RPGRIP1L
(I1273T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
RPGRIP1L
(A1248T +3 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+4 more
GUncertain significance
RPGRIP1L
(N361D)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+6 more
GUncertain significance
RPGRIP1L
(E492D)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(Q388R)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+4 more
GUncertain significance
RPGRIP1L
(D1191fs +3 more)
Deletion
(frameshift variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
(Q249H)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+4 more
GUncertain significance
RPGRIP1L
(S860C)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+4 more
GUncertain significance
RPGRIP1L
(L1147I +3 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(Y574C)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
RPGRIP1L
(R797I)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(I723V)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+5 more
GUncertain significance
RPGRIP1L
(K706N)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+5 more
GUncertain significance
RPGRIP1L
(R34G)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+5 more
GUncertain significance
RPGRIP1L
(R1085C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 7
+5 more
GUncertain significance
RPGRIP1L
(G177D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
RPGRIP1L
(A823L)
Indel
(missense variant)
Joubert syndrome 7
+5 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
Familial aplasia of the vermis
+1 more
GPathogenic
RPGRIP1L
Single nucleotide variant
(intron variant)
Meckel syndrome, type 5
+2 more
GBenign
RPGRIP1L
(H841R)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+4 more
GBenign/Likely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Joubert syndrome 7
+5 more
GBenign/Likely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
Meckel-Gruber syndrome
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
COACH syndrome 3
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+4 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(synonymous variant)
COACH syndrome 3
+4 more
GLikely benign
RPGRIP1L
(L698*)
Single nucleotide variant
(nonsense)
Meckel-Gruber syndrome
+4 more
GPathogenic/Likely pathogenic
RPGRIP1L
(E458*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+5 more
GPathogenic/Likely pathogenic
RPGRIP1L
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 7
+2 more
GLikely pathogenic
RPGRIP1L
Single nucleotide variant
(intron variant)
Joubert syndrome 7
+4 more
GUncertain significance
RPGRIP1L
(R1070W +3 more)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(Q767H)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(R101Q)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
RPGRIP1L
(L546F)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(H553N)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
(Q274L)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
(R1156H +3 more)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+5 more
GUncertain significance
RPGRIP1L
(S337F)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+4 more
GUncertain significance
RPGRIP1L
(G721R)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+5 more
GUncertain significance
RPGRIP1L
(E898fs)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
RPGRIP1L
(E48D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GUncertain significance
RPGRIP1L
(R69C)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+6 more
GUncertain significance
RPGRIP1L
(R263Q)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(M285T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Familial aplasia of the vermis
+4 more
GLikely benign
RPGRIP1L
(K381N)
Single nucleotide variant
(missense variant)
COACH syndrome 3
+3 more
GUncertain significance
RPGRIP1L
(L385R)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
+5 more
GUncertain significance
RPGRIP1L
(R535H)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+5 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(synonymous variant)
Meckel syndrome, type 5
+4 more
GLikely benign
RPGRIP1L
(S784C)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(Q803R)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(L947F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GUncertain significance
RPGRIP1L
(P992del)
Microsatellite
(inframe_deletion +1 more)
RPGRIP1L-related disorder
+5 more
GUncertain significance
RPGRIP1L
(R1190K +3 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
(R535C)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+6 more
GUncertain significance
RPGRIP1L
(K443N)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+4 more
GUncertain significance
RPGRIP1L
(Y544C)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+6 more
GUncertain significance
RPGRIP1L
(I1140V +3 more)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+7 more
GUncertain significance
RPGRIP1L
(E1034G +1 more)
Single nucleotide variant
(missense variant)
RPGRIP1L-related disorder
+6 more
GUncertain significance
RPGRIP1L
(K1007* +1 more)
Single nucleotide variant
(nonsense)
RPGRIP1L-related disorder
+5 more
GPathogenic/Likely pathogenic
RPGRIP1L
(L600*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+4 more
GPathogenic/Likely pathogenic
RPGRIP1L
(R355Q)
Single nucleotide variant
(missense variant)
Joubert syndrome 7
+4 more
GUncertain significance
RPGRIP1L
(A907S)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(H825R)
Single nucleotide variant
(missense variant)
Meckel-Gruber syndrome
+4 more
GUncertain significance
RPGRIP1L
(I445V)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+6 more
GUncertain significance
RPGRIP1L
(R854*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+2 more
GPathogenic/Likely pathogenic
RPGRIP1L
(R602*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
+3 more
GPathogenic/Likely pathogenic
RPGRIP1L
(R251*)
Single nucleotide variant
(nonsense)
RPGRIP1L-related disorder
+4 more
GPathogenic/Likely pathogenic
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
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