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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGF2, INS-IGF2
Single nucleotide variant
(splice acceptor variant)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(W119* +1 more)
Single nucleotide variant
(nonsense +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
IGF2, INS-IGF2
(E137fs +1 more)
Microsatellite
(frameshift variant +1 more)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(E36fs +1 more)
Deletion
(frameshift variant +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
IGF2, INS-IGF2
Single nucleotide variant
(splice acceptor variant)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(S20* +1 more)
Single nucleotide variant
(nonsense +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
IGF2, INS-IGF2
(V123I +1 more)
Single nucleotide variant
(missense variant +1 more)
Silver-Russell syndrome 3
GUncertain significance
IGF2, INS-IGF2
(M65fs +1 more)
Deletion
(frameshift variant +1 more)
Silver-Russell syndrome 3
GUncertain significance
IGF2, INS-IGF2
(G34C +1 more)
Single nucleotide variant
(missense variant +1 more)
Beckwith-Wiedemann syndrome
+3 more
GLikely pathogenic
IGF2, INS-IGF2
(I122fs +1 more)
Deletion
(frameshift variant +1 more)
Silver-Russell syndrome 3
GLikely pathogenic
INS-IGF2, IGF2
Single nucleotide variant
(intron variant)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(G34D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
IGF2, INS-IGF2
(L93fs +1 more)
Indel
(frameshift variant +1 more)
Silver-Russell syndrome 3
GPathogenic
IGF2, INS-IGF2
(S64* +1 more)
Single nucleotide variant
(nonsense +1 more)
Silver-Russell syndrome 3
GPathogenic
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