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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDIT3
(E146K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DDIT3
(F16S)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
DDIT3
(P5A)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SDR9C7, TSPAN31
+51 more
Duplication
Cataract 15 multiple types
+3 more
GUncertain significance
DCTN2, DDIT3
+4 more
Duplication
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
+2 more
GUncertain significance
AGAP2, ARHGAP9
+27 more
Duplication
Familial melanoma
GUncertain significance
AGAP2, ARHGEF25
+17 more
Duplication
not provided
GUncertain significance
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