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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+176 more
Copy number loss
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
ACD, AGRP
+217 more
Copy number loss
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
ATP6V0D1, B3GNT9
+113 more
Copy number loss
See cases
GPathogenic
ACD, AGRP
+155 more
Copy number loss
See cases
GPathogenic
B3GNT9, CBFB
+70 more
Copy number gain
See cases
GUncertain significance
B3GNT9, CBFB
+65 more
Copy number gain
See cases
GUncertain significance
FHOD1
(S1119R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(K1117N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(V1141A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L1110F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(I1080V +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FHOD1
(N1067Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(T1084A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L1082P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(M1053V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(S1052N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R1044W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(K1020R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(E1019G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(E1043K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R1007H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A1028V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A1028D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(Q1022K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R993Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R1014W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(T1005M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(C977W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R998H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R969C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(P965L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(C951F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R975C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(C936Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(H931Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R954H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R952H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L925V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(K918N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A909S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R907Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R907W +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FHOD1
(K889E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R912H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(D878A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(N832S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R844C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L783V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(S799F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(E791K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(I785M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A755T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(F726S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(D696N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L679P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(T664M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(D616V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(V640M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L604Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(P618T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(P587fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
FHOD1
(P585H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(P585T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(P600T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(I569T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(V563M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(I520T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(K542T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A533G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A533S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(C502R +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FHOD1
(R507W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(L466F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R462Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A459V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A457V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(R468W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A467V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1
(A441T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC130059190
(A416S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC130059190
(G384D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(R353L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(R351Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(T279N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(A253T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(R242C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FHOD1, LOC126862378
(K220N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(R216G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(A212V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
FHOD1, LOC126862378
(G185S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FHOD1, LOC126862378
(A183V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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