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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITX1
(G299A)
Single nucleotide variant
(missense variant)
Brachydactyly-elbow wrist dysplasia syndrome
+3 more
GBenign
PITX1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PITX1
(N139T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PITX1
(K88Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PITX1
(A84D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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