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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
C1QTNF6, CACNG2
+93 more
Copy number loss
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
CDC42EP1, GGA1
+34 more
Copy number gain
See cases
GUncertain significance
GGA1
(D26N)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GGA1
(N31S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(E39K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(F41V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(P45A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(R49Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(G95S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(L46V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(S138R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(E145K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(K150R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(D170N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P175H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(L159F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(S172R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(R272H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(N211I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(G305S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(G310S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(R357H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
GGA1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
GGA1
(E275K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(D285H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GGA1
(P285A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P285T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(G287C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(S314L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(A308D +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P323L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(A410V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(S434R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(K355E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(T356I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(T446I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(R452Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P500A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P400L +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GGA1
(L422F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P416S +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(N424S +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GGA1
(I508F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(V517M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(R527W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GGA1
(V486M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GGA1
(R522C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(T616N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P545R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(P545Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GGA1
(S638N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD54, BAIAP2L2
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
SH3BP1, CSNK1E
+25 more
Copy number loss
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ANKRD54, APOBEC3A
+76 more
Copy number gain
See cases
GLikely pathogenic
ANKRD54, BAIAP2L2
+31 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+41 more
Copy number loss
See cases
GPathogenic
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
APOL1, APOL2
+41 more
Copy number loss
See cases
GPathogenic
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