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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGF1R, IRAIN
(G15R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(C192Y)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R, LOC126862245
(Q348*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
IGF1R, LOC126862245
(R365*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
IGF1R
(R753*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
IGF1R
(G1121S +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R1157Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
IGF1R, PGPEP1L
Copy number gain
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(G34R)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
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