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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH1A1, ANXA1
+90 more
Copy number loss
See cases
GPathogenic
RORB, RORB-AS1
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
RORB, RORB-AS1
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RORB
(P20L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(H21fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
RORB
(G34R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(C38W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(S37R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(R56K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(Q63E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(C65W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(C65* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
RORB
(R77Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RORB
(K69N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RORB
(S138N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(S160A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(V189fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
RORB
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
RORB
(H268fs +1 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
RORB
(E301K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(R309C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(M327I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(L333S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RORB
(S351F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(R383* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RORB
(W374* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
RORB
(I376V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
(H400R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RORB
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
LOC124310566, RORB
(F430fs +1 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
LOC124310566, RORB
(V438A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC124310566, RORB
(N439S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC124310566, RORB
(C454Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCA1, ABCA2
+771 more
Copy number gain
See cases
GPathogenic
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