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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPGRIP1L
(G895E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RPGRIP1L
Deletion
Meckel-Gruber syndrome
+1 more
GLikely pathogenic
RPGRIP1L
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
RPGRIP1L
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
RPGRIP1L
Deletion
Meckel-Gruber syndrome
+1 more
GPathogenic
RPGRIP1L
Deletion
(frameshift variant +1 more)
Joubert syndrome 7
GLikely benign
RPGRIP1L
(D16N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GLikely pathogenic
RPGRIP1L
(D311fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
RPGRIP1L
Copy number loss
not specified
GUncertain significance
RPGRIP1L
(K974fs)
Deletion
(frameshift variant)
not provided
GPathogenic
RPGRIP1L
(N676fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
RPGRIP1L
(P1102fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic
RPGRIP1L
(I522M)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
GUncertain significance
RPGRIP1L
(H610R)
Single nucleotide variant
(missense variant)
Familial aplasia of the vermis
GUncertain significance
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
(R1190K +3 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Familial aplasia of the vermis
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 7
+2 more
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Joubert syndrome 7
+2 more
GUncertain significance
RPGRIP1L
Copy number loss
not provided
GUncertain significance
RPGRIP1L
(Q1005R +1 more)
Single nucleotide variant
(missense variant)
Meckel syndrome, type 5
+3 more
GUncertain significance
RPGRIP1L
(S135fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
RPGRIP1L
(T631I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RPGRIP1L
(K577*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RPGRIP1L
(I1062fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
LOC130059035, RPGRIP1L
Single nucleotide variant
(5 prime UTR variant)
Nephronophthisis 8
+2 more
GUncertain significance
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
GLikely benign
RPGRIP1L
Single nucleotide variant
(intron variant)
not specified
GLikely benign
RPGRIP1L
Single nucleotide variant
(splice donor variant)
Joubert syndrome 7
GPathogenic
RPGRIP1L
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 7
GPathogenic
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