U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBL1
(P610L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(D325E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(W148C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(T769I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(R1045H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(A372E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(L144V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(W821R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(G78C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(S311A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(D301N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(I720V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(V153F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(A76V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(K2E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(R421H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(P141L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(E731A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(M438L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(E243K)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(I146V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(Y49H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(T43I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(Y49C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(P586S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(G715E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(A281T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(E171K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(S70I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(I69K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(V854I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BLCAP, CTNNBL1
+8 more
Duplication
Congenital disorder of glycosylation
+1 more
GUncertain significance
RBL1
(G251E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(Q529H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(S294T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(R499C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(M187V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(A326T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(L1054S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(E825K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(H7Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(Y151C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(R633Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBL1
(V464F +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RBL1
(G229V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(D291N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(N354D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(R189Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(A38V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
RBL1
(M551T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
RBL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RBL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RBL1
(P93R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ACOT8
+568 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination