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Items: 1 to 100 of 764

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112577491, LOC112577504
+2149 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929074, LOC129929075
+520 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+519 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+578 more
Copy number loss
See cases
GPathogenic
LRRC47, MEGF6
+564 more
Copy number loss
See cases
GPathogenic
LOC129929302, LOC129929303
+577 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+387 more
Copy number gain
See cases
GPathogenic
CAMTA1, CAMTA1-AS1
+63 more
Copy number loss
See cases
GUncertain significance
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
AGTRAP, ANGPTL7
+309 more
Copy number loss
See cases
GPathogenic
RERE
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(M1543V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(H1542Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RERE
(H1542N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(H988Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(H1540Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RERE
(M1532V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(A1531S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(S970L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
(H1521R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(L1517Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(A1513V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(M957T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(P1510L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
(P1510T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RERE
(I1507V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
RERE
(A1506T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(T1497P +1 more)
Single nucleotide variant
(missense variant)
RERE-related disorder
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RERE
Duplication
(intron variant)
not provided
GBenign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(H1492P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(R937C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
(L936P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(L1490F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(M1489I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(E1486G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(E1486* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RERE
(H1485Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(H1485Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(P1484L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(N1477S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(P1476L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GPathogenic
RERE
(T1474A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(P1472R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RERE
(P1471L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
RERE
(P1469R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(R1467G +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
(A1466P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
(H1464R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(G1462S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RERE
(P1454L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(V1452I +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
+1 more
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RERE
(G1450D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
(G1450V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RERE
Deletion
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RERE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RERE
Single nucleotide variant
(intron variant)
not provided
GBenign
RERE
(H1445Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RERE
(L1444R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GUncertain significance
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(D1442E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RERE
(Q1440R +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GPathogenic
RERE
Microsatellite
(inframe_insertion)
not provided
+1 more
GPathogenic
RERE
Microsatellite
(inframe_deletion)
not provided
GPathogenic
RERE
Deletion
(inframe_deletion)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
GLikely pathogenic
RERE
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RERE
(H1435Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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