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Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
ACIN1
(T1263I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R537G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1130L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1125H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1119Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1113Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1167W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(A1089T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1092Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R1119W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E1052D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(G1084D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861893
(G1013R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861893
(T1055M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861893
(V981M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861893
(G275R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(G261R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(T938I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R169C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(A124V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(V786I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S88L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S56N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R43H +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R43C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(I734V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(N739S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(T18A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(T753N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(K691Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861894
(R708H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861894
(S700P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861894
(V627L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861894
(P643L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126861894, ACIN1
(T611A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACIN1, LOC126861894
(S606T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1, LOC126861894
(R588H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R598S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(A557V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R562W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R554C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S531C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R529S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(P566S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(A520V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R500K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(I502V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E535G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E481Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(L460H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(L503V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E431Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(D458N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E384K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(I438R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E377K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S367F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(P357S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(L361P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R356Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E313G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S350C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R284G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACIN1
(P266L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E270A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E307D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E249V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(K265N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(E240D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R265G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(Q212E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R164T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R222K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(S202W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(R135K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(L124R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(V121E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(S111L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(R151C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACIN1
(E61D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(P53S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACIN1
(V23A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACIN1
(R14Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(H6D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(R3I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACIN1
(W2G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
MRPL52, MYH6
+77 more
Duplication
Lysinuric protein intolerance
+1 more
GUncertain significance
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
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