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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGF1R
(R40H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(T79M)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(T246M)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(N284Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IGF1R
(M588V)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IGF1R
(E681G)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
IGF1R
(L1215F +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
IGF1R
(E1355K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
ADAMTS17, ALDH1A3
+22 more
Copy number loss
not provided
GPathogenic
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