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Items: 1 to 100 of 441

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC129937936, LOC129937937
+631 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
ACTRT3, ARL14
+304 more
Copy number gain
See cases
GPathogenic
ACTL6A, ACTRT3
+306 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ACTRT3, CLDN11
+101 more
Copy number gain
See cases
GUncertain significance
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
MECOM
Single nucleotide variant
(3 prime UTR variant)
MECOM-related disorder
GLikely benign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(V1043I +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(A1031V +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(A1031V +8 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MECOM
(A1030E +8 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MECOM
(H1034L +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(V1023L +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MECOM
(V1031L +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MECOM
(V1219M +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(N1030S +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MECOM
(T1015I +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(E1011Q +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(L1004M +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
Indel
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
MECOM
(Q862R +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(S1006L +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MECOM
(H668Y +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MECOM
(P1187L +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(V1057M +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(Q1043K +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(N1156H +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(K1035R +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(F1030C +8 more)
Single nucleotide variant
(missense variant)
MECOM-related disorder
GUncertain significance
MECOM
(R630K +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(I629V +8 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
MECOM
(H1026R +8 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MECOM
(L1135V +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(E1015K +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(intron variant)
not provided
GBenign
MECOM
Single nucleotide variant
(intron variant)
not provided
GBenign
MECOM
(P1009S +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(S1122F +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(C1128Y +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(E1111V +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(Y1109C +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(N1113H +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(V1105A +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(D1086G +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(E1071del +8 more)
Microsatellite
(inframe_deletion)
not specified
GUncertain significance
MECOM
(E1071D +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(T872S +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(V880A +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(H872Y +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MECOM
(S1050G +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(M1047V +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Duplication
(intron variant)
not provided
GBenign
MECOM
Deletion
(intron variant)
not provided
GBenign
MECOM
Single nucleotide variant
(intron variant)
not provided
GBenign
MECOM
Single nucleotide variant
(intron variant)
not provided
GBenign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(H523R +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(N1043S +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(S919N +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(I518M +8 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MECOM
(I1030T +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(I1030L +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(R1027Q +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(R839G +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
(R1036* +8 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MECOM
(I702F +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MECOM
(A1013V +8 more)
Single nucleotide variant
(missense variant)
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
GUncertain significance
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MECOM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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