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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ABCB5, AGMO
+560 more
Copy number gain
See cases
GPathogenic
LOC129998072, LOC129998073
+331 more
Copy number loss
See cases
GPathogenic
ABCB5, AGMO
+248 more
Copy number loss
See cases
GPathogenic
ABCB5, AGR2
+287 more
Copy number gain
See cases
GPathogenic
ABCB5, FERD3L
+63 more
Copy number loss
See cases
GPathogenic
LOC129998025, LOC129998026
+38 more
Copy number gain
See cases
GUncertain significance
ABCB5, CDCA7L
+76 more
Copy number loss
See cases
GPathogenic
ABCB5, GIRGL
+29 more
Copy number gain
See cases
GUncertain significance
LOC111365192, LOC111413014
+281 more
Copy number loss
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
ABCB5
(Q15R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(E22Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R27I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R38H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(L47I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(I49M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V57I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(G59E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A60D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(L81V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(T84I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(N91S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(Y122F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(S126P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(W128R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(H145Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R166C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(I182T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(L196P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V198I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABCB5
(K202R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M218K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A221V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R226M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
Single nucleotide variant
(intron variant)
not provided
GBenign
ABCB5
(S233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(K264E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(D275G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(K282T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(I333F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB5
(A350T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ABCB5
(R353Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB5
(I363T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB5
(N423D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ABCB5
(D451N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(E25G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M494L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB5
(T552M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ABCB5
(K115Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V563L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A125S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(G573C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V133M +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCB5
(A135S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R137Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A144V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(K151T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A156V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ABCB5
(L609V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M610T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M176T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(D179Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(S208N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(P229S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V231I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(S232P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(P690R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(F264I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V740I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(G758S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M766T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(I355T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(R812T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(L395Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(V847L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(M853V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A857V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(G416A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(Q460H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ABCB5
(K913N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A941D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5, LINC01162
+7 more
Copy number loss
See cases
GUncertain significance
ABCB5
(Y533C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(A540T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(Y1024S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(E596Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(E1041D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(S1059F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(Q1071E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(N1085K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB5
(W1088C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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