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Links from MedGen

Items: 1 to 100 of 489

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGF1R
(I1204N +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(S1192L +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(T268N)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(W274*)
Single nucleotide variant
(nonsense)
Growth delay due to insulin-like growth factor I resistance
GPathogenic
IGF1R
(S309L)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Deletion
(splice donor variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(D1318N +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GUncertain significance
IGF1R
(R210C)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GUncertain significance
IGF1R, LOC126862245
(Q348*)
Single nucleotide variant
(nonsense)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(C192Y)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R, IRAIN
(M1K)
Single nucleotide variant
(non-coding transcript variant +2 more)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(Y1280del +1 more)
Microsatellite
(inframe_deletion)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
LOC126862245, IGF1R
(I362V)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R40H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(V956I +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R739W)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(V975A +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R605H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(D245N)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(E1341K +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R222Q)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(Y885H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(T1156A +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(Q1362* +1 more)
Single nucleotide variant
(nonsense)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(I936T +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Duplication
(splice donor variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(R275H)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GConflicting classifications of pathogenicity
IGF1R, PGPEP1L
Copy number gain
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(C488W)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GConflicting classifications of pathogenicity
IGF1R
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
IGF1R
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
IGF1R
(E774fs)
Microsatellite
(frameshift variant)
Growth delay due to insulin-like growth factor I resistance
GPathogenic
IGF1R
(P637fs)
Microsatellite
(frameshift variant)
Microcephaly
+1 more
GLikely pathogenic
IGF1R, LOC126862245
(R365*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
IGF1R
(R719C)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(M1254V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IGF1R
(S1310L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IGF1R
(L1215F +1 more)
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
(E1355K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
IGF1R
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
IGF1R
(T79M)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(E681G)
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
(A578T)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GLikely pathogenic
IGF1R
(R753*)
Single nucleotide variant
(nonsense)
Growth delay due to insulin-like growth factor I resistance
+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, IRAIN
(G15R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
(R1157Q +1 more)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R, IRAIN
(S24L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
IGF1R
(S400F)
Single nucleotide variant
(missense variant)
Growth delay due to insulin-like growth factor I resistance
Gnot provided
IGF1R
(M1269fs +1 more)
Deletion
(frameshift variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GLikely benign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GLikely benign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GLikely benign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GLikely benign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GBenign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GLikely benign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(intron variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(synonymous variant)
Growth delay due to insulin-like growth factor I resistance
+1 more
GConflicting classifications of pathogenicity
IGF1R
(R513W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GBenign
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
IGF1R
Single nucleotide variant
(3 prime UTR variant)
Growth delay due to insulin-like growth factor I resistance
GUncertain significance
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