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Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCG5, ABCG8
+1631 more
Copy number gain
See cases
GPathogenic
LOC126806252, LOC126806253
+2457 more
Copy number gain
See cases
GBenign
ABCG5, ABCG8
+443 more
Copy number gain
See cases
GPathogenic
RTN4
(R196H +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(R1189C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(M1177T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(M1177V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(N1170S +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(R357Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(I354T +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(L1145F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T146P +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(Y137C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T1102M +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(C1101Y +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(L277F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(I264V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(L84V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(G251A +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RTN4
(G1059C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(E999Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RTN4
(L981F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(E772G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(Q755E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RTN4
(T739I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RTN4
(N735H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RTN4
(S935L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(S920C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
RTN4
(S909L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P698L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(E693Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
RTN4
(L686I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(S862T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RTN4
(L608M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
RTN4
(T607A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(N809D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(Y488C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(A486P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(L481V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RTN4
(A423S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(G628D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RTN4
(P403L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T569R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RTN4
(K307E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T506I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(E288G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T271A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(Y255C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(R251H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(R251C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(T244M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
RTN4
(S234N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
RTN4
(K423I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(L416W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(M199I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(D192G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(F390L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(F181I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(F369C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(V153A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(I118N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P102A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(D286H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(A280T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(A13V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(S203C)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
RTN4
(S181F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P176H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(A165V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P162R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P162T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(A141G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P140L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P139L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(K132N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(S131F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(V128F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RTN4
(A126T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(S111R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P110R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(R91Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P90S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(F85L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(F85L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(N83K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(M79L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
RTN4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RTN4
(P72S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RTN4
(A61P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(D48E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
(P19S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RTN4
Single nucleotide variant
not provided
GUncertain significance
ACYP2, C2orf73
+8 more
Duplication
not provided
GUncertain significance
CCDC88A, CFAP36
+8 more
Copy number gain
not provided
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
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