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Items: 1 to 100 of 166

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+176 more
Copy number gain
See cases
GPathogenic
GOLGA4
(A25E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A25V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(T31A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L46P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(D47E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S61L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GOLGA4
(S73N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GOLGA4
(T58I +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GOLGA4
(R68W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R90Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R117Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S113N +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(E123K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A124T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R142W +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(R145K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E169K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Y153N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L270F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E262K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E284V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E269K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(V271L +5 more)
Single nucleotide variant
(missense variant)
GOLGA4-related disorder
GLikely benign
GOLGA4, LOC126806650
(T260A +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4, LOC126806650
(R290C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4, LOC126806650
(R319H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4, LOC126806650
(I302T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4, LOC126806650
(C293R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4, LOC126806650
(M360T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R388C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E428A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E431K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APRG1, GOLGA4
+3 more
Copy number loss
See cases
GUncertain significance
GOLGA4
(E493D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q494R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K537E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q532R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K517R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q554H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A558D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R578W +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R578Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(R568K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(N583K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(N599I +5 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GOLGA4
(N602S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K613R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(W649C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(M664R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(H723Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L690V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(V709I +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(D734N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K741R +5 more)
Single nucleotide variant
(missense variant)
GOLGA4-related disorder
GLikely benign
GOLGA4
(Q770H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K774N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(H771L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q795R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A796T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S797C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(H811R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Y817H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L831S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(N874H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q937K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R917I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(G919R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q920R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K997N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K971Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S1019T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(I1066M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(I1046V +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(N1052K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E1114Q +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(D1167G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A1156T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S1146C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(T1187A +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(D1201N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(A1214V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(I1221V +5 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA4
(K1222E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E1225K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R1256C +5 more)
Single nucleotide variant
(missense variant)
GOLGA4-related disorder
GLikely benign
GOLGA4
(I1290M +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(E1284D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(Q1289R +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(S1315N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(N1375S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L1362F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(N1427S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(D1478G +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(K1493N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R1478I +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(R1494S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA4
(L1542F +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Display optionsSort by LocationDownload
Format
Items per page
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