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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GEMIN5
(R1499K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(G1494S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(C1477W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V1465I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(D1459E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(D1458A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S1450N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(H1387Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T1372I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L1358H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GEMIN5
(R1351Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(T1346A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T1322S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S1310fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
GEMIN5
(Y1282H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(D1255N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(A1223S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V1157M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T1150M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T1149R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S1143fs +1 more)
Deletion
(frameshift variant)
Inborn genetic diseases
GPathogenic
GEMIN5
(L1126P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(G1115V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L1113V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(A1104S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(W1101L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(N1099D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L1097V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V1077I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(A1064V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
GEMIN5
(A1042S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(G1036D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V1032I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(A1010D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(I987F +1 more)
Single nucleotide variant
(missense variant)
GEMIN5-related disorder
+3 more
GLikely pathogenic
GEMIN5
(K970R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(A967G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(A951T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L948V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(G911D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R903G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(F895Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L892M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(H892Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(E860Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S858Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R845C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(P788R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R787Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(R786W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(E781G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(E780Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(D758H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(K741R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(I726T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R718Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Q714R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S712C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(F704L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(D702H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Y698C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Y698F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(D693H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R679Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(E672D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R670Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(Y660C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Y631C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(N605S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S603F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GEMIN5
(D547Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S542G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(I542K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T528I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(A518G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(A518T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Q508H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Y453C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(C440F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V425M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Y415C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(N407S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(I403F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(S393F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(C363R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(T355A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(Q294R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V262L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R257G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(N228T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(P207L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(H189N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(V167L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(P151L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R120Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(L115V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(N80I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GEMIN5
(R66K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GEMIN5
(E47Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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