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Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+262 more
Copy number gain
See cases
GPathogenic
AATK
(A1271S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S1268C +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(D1356Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(T1241M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P1341R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(T1338M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D1215N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK, LOC112533680
(P1305L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK, LOC112533680
(E1191D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(Q1179H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(V1240I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R1205H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A1204V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P1092A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AATK
(E1189K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S1084G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D1069E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G1046S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P1136Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G1032D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R1029Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E1116V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(F1101L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P1086L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(L959V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G950R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(V1043I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G928E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G919R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P918S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A917D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R916Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(T905I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E1004K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E988D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(L880F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R875Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(A864V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A964V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A861T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G854A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A851V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P922L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P909L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S799C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D901N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(V783A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G775S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A761P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E751D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(T725M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D715N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S811L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(V696I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(P694L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P795S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(R690H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R793C +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(G791R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P673L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(P655S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(L642I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G744S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(T611N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G707S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D697N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G676V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R572H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AATK
(A569D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(R670L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P552S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S650N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P539L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E640Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(V528M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G519E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A511V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S504L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G579V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S468L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D462H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(D459Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(S553G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A445T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A538V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E433G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E529K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A521S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(P517L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(G407S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A404D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(A507T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AATK
(E504A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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