U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM28, ADAM7
+979 more
Copy number gain
See cases
GPathogenic
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
LOC130000099, LOC130000100
+1040 more
Copy number gain
See cases
GPathogenic
LOC130000032, LOC130000033
+1105 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
LOC129999950, LOC129999951
+996 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
DPYSL2, DUSP26
+1020 more
Copy number gain
See cases
GPathogenic
LOC126860319, LOC126860320
+696 more
Copy number gain
See cases
GPathogenic
LOC130000106, LOC130000107
+937 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+499 more
Copy number gain
See cases
GPathogenic
LOC132089588, LOC132089589
+510 more
Copy number loss
See cases
GPathogenic
LOC130000241, LOC130000242
+934 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+665 more
Copy number gain
See cases
GPathogenic
LOC129999967, LOC129999968
+870 more
Copy number gain
See cases
GPathogenic
KAT6A-AS1, KCNU1
+929 more
Copy number gain
See cases
GPathogenic
LOC130000074, LOC130000075
+929 more
Copy number gain
See cases
GPathogenic
TNFRSF10A, TNFRSF10A-DT
+705 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+870 more
Copy number gain
See cases
GPathogenic
LOC124153144, LOC124153145
+818 more
Copy number gain
See cases
GPathogenic
LOC113788268, LOC113788269
+929 more
Copy number gain
See cases
GPathogenic
LOC128772328, LOC129389957
+653 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+567 more
Copy number loss
Microcephaly
GPathogenic
ADAM28, ADAM7
+567 more
Copy number gain
See cases
GPathogenic
LOC130000303, LOC130000304
+922 more
Copy number gain
See cases
GPathogenic
LOC113788272, LOC113788273
+807 more
Copy number gain
See cases
GPathogenic
LOC130000012, LOC130000013
+857 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000050, LOC130000051
+791 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+523 more
Copy number gain
See cases
GPathogenic
ADAM18, ADAM2
+922 more
Copy number gain
See cases
GPathogenic
LOC130000309, LOC130000310
+900 more
Copy number gain
See cases
GPathogenic
ADAM28, ADAM7
+532 more
Copy number loss
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
ADRA1A, BNIP3L
+259 more
Copy number loss
See cases
GPathogenic
LOC124153126, LOC124153127
+257 more
Copy number loss
See cases
GPathogenic
LOC130000135, LOC130000136
+593 more
Copy number gain
See cases
GPathogenic
NUGGC
(G793R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(P792L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(P791T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(S785C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R772W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(H761N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(V750A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(G742D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(V722M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R696Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R685Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(E684K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(I677M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(I648V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(E645G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(Y625H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(W623C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(T591M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(Q580K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(V577A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A565V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A560P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A560T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R538G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R529H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(C512Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A511T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R492Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUGGC
(V462M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A350D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R343W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(E303K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(D296G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(E284K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A261T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUGGC
(E240G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(I231N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(A219V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(L217R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(I121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(I93T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R56W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(L47V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(S41P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(R32Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(Y20C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUGGC
(D6G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM18, ADAM2
+150 more
Copy number gain
not specified
GPathogenic
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
ADAM28, ADAM7
+39 more
Copy number loss
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
HR, MIR320A
+95 more
Copy number loss
not provided
GPathogenic
ADAM18, ADAM2
+176 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+145 more
Copy number gain
not provided
GPathogenic
ADAM28, ADAM7
+140 more
Copy number gain
not provided
GPathogenic
SMIM18, SORBS3
+225 more
Copy number gain
not provided
GPathogenic
ADAM18, ADAM2
+180 more
Duplication
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination