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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTOG
(Q145fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic/Likely pathogenic
OTOG
(S189C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(R343W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(V373E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(R1234* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
OTOG
(S1356F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(R2310C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OTOG
(A2685D +1 more)
Indel
(missense variant)
not specified
+1 more
GUncertain significance
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