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Links from MedGen

Items: 1 to 100 of 2760

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP7B
(G1000R +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(N261fs +3 more)
Duplication
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(splice acceptor variant +1 more)
Wilson disease
GPathogenic
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GPathogenic
ATP7B
(V540fs +4 more)
Deletion
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
Deletion
(frameshift variant +1 more)
Wilson disease
GPathogenic
ATP7B
(T534fs +19 more)
Microsatellite
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(R1002fs +25 more)
Deletion
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(D1009fs +26 more)
Indel
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(A433fs +4 more)
Duplication
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(L159fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
(L1069P +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GLikely pathogenic
ATP7B
(E122* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
(K1024* +27 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(Y155* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
Single nucleotide variant
(splice acceptor variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(F211fs +1 more)
Insertion
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(I125fs)
Insertion
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(N212fs +1 more)
Deletion
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(I1057fs +28 more)
Duplication
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(Q109* +1 more)
Single nucleotide variant
(nonsense)
Wilson disease
GLikely pathogenic
ATP7B
(Y269* +1 more)
Single nucleotide variant
(nonsense +1 more)
Wilson disease
GPathogenic
ATP7B
(A379fs +3 more)
Deletion
(frameshift variant +1 more)
Wilson disease
GLikely pathogenic
ATP7B
Deletion
(nonsense +1 more)
Wilson disease
GLikely pathogenic
ATP7B
(V1001fs +27 more)
Deletion
(frameshift variant)
Wilson disease
GLikely pathogenic
ATP7B
(M606fs +14 more)
Duplication
(frameshift variant +1 more)
Wilson disease
GPathogenic
ATP7B
(V591I +6 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(S595N +6 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(V606L +6 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(P625A +9 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(K642Q +9 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(K571E +14 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(A584T +14 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G632V +14 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(I443V +15 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(S446C +15 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(P527S +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant +1 more)
Wilson disease
GLikely benign
ATP7B
(A560S +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G568V +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G1006S +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(K1002R +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(M1006T +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(V1006L +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(V1060L +4 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(G1007E +26 more)
Single nucleotide variant
(missense variant)
Wilson disease
+1 more
GUncertain significance
ATP7B
(K1009E +26 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(I1001N +26 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(I1001S +26 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(P1003R +26 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(W1004G +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(D957N +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G1026A +27 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
(R1008G +27 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(R1008W +27 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GLikely benign
ATP7B
(M1053V +27 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(V1001M +27 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(T1005I +27 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(E1012D +27 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G1054V +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(I1065F +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(synonymous variant)
Wilson disease
GUncertain significance
ATP7B
(K1356E +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(P1113R +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(V1119L +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(H1122Y +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(H1122R +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(D1126H +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(P1133H +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(T1004P +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(D1016E +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(D1017N +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(L1024V +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(D1030Y +28 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(T464S +15 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GUncertain significance
ATP7B
(G353S +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(Q245fs +3 more)
Deletion
(frameshift variant)
Wilson disease
GPathogenic
ATP7B
(H497R +4 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(A1003G +19 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(R1009Q +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(R615T +9 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(V106I +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(T1011S +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GLikely benign
ATP7B
(S338A +3 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
Single nucleotide variant
(intron variant)
Wilson disease
GUncertain significance
ATP7B
(E253D +3 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(S302N +1 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(N494K +4 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(G188R +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(G221A +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(R230G +1 more)
Single nucleotide variant
(missense variant)
Wilson disease
GUncertain significance
ATP7B
(I1012V +25 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
ATP7B
(F494L +15 more)
Single nucleotide variant
(missense variant +1 more)
Wilson disease
GUncertain significance
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