U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
CCDC47, DDX42
+31 more
Copy number gain
See cases
GUncertain significance
FTSJ3
(K845T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R837H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(Q832R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(G819D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R812H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R812C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R809C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(G806D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(A803V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(K788T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(K788E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(E777D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R776Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(V767M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R737H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R732W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R715Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R713Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(G699E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(E698G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(G667S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(L663R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(R661Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3, LOC126862614
(A658V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FTSJ3
(I654V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(G641R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R640H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R640C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K612N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(S599L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(I582M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K567Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R559Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R559W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R558Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(E547D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(D543N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(Q522E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(D463N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(E461A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(I455T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(D449Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(F446L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R400H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(L390V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K389Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K384N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(Q367K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(S356P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(E345D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(S307L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FTSJ3
(L246R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(V227I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K225N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K218M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(F200I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R177C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R176H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R176C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(T156P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R150C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(A149T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(C145F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(R142H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(P120L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K107N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(K107R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(E105Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(N85S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(I80V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(W58C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FTSJ3
(A47S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACE, APPBP2
+43 more
Copy number gain
See cases
GUncertain significance
CCDC47, CD79B
+16 more
Copy number gain
not provided
GUncertain significance
ABCA6, ABCA8
+79 more
Copy number gain
not provided
GPathogenic
ACE, AMZ2
+77 more
Copy number gain
not provided
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
ACE, APOH
+48 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination