ClinVar for MedGen (Select 894912) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236772	NM_000612.6(IGF2):c.252T>G (p.Cys84Trp)	IGF2, INS-IGF2 (C140W +1 more)	Single nucleotide variant (missense variant +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 2682156	NM_000612.6(IGF2):c.-6-2A>G	IGF2, INS-IGF2	Single nucleotide variant (splice acceptor variant)	Silver-Russell syndrome 3	GPathogenic
Select item 2502356	NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)	IGF2, INS-IGF2 (W119* +1 more)	Single nucleotide variant (nonsense +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 2499591	NM_000612.6(IGF2):c.243_244del (p.Glu81fs)	IGF2, INS-IGF2 (E137fs +1 more)	Microsatellite (frameshift variant +1 more)	Silver-Russell syndrome 3	GPathogenic
Select item 2442125	NM_000612.6(IGF2):c.106del (p.Glu36fs)	IGF2, INS-IGF2 (E36fs +1 more)	Deletion (frameshift variant +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 1709875	NM_000612.6(IGF2):c.-6-2A>T	IGF2, INS-IGF2	Single nucleotide variant (splice acceptor variant)	Silver-Russell syndrome 3	GPathogenic
Select item 1679294	NM_000612.6(IGF2):c.59C>A (p.Ser20Ter)	IGF2, INS-IGF2 (S20* +1 more)	Single nucleotide variant (nonsense +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 1328522	NM_000612.6(IGF2):c.199G>A (p.Val67Ile)	IGF2, INS-IGF2 (V123I +1 more)	Single nucleotide variant (missense variant +1 more)	Silver-Russell syndrome 3	GUncertain significance
Select item 976226	NM_000612.6(IGF2):c.27del (p.Met9fs)	IGF2, INS-IGF2 (M65fs +1 more)	Deletion (frameshift variant +1 more)	Silver-Russell syndrome 3	GUncertain significance
Select item 976061	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	IGF2, INS-IGF2 (G34C +1 more)	Single nucleotide variant (missense variant +1 more)	Silver-Russell syndrome 3 +3 more	GLikely pathogenic
Select item 917503	NM_000612.6(IGF2):c.195del (p.Ile66fs)	IGF2, INS-IGF2 (I122fs +1 more)	Deletion (frameshift variant +1 more)	Silver-Russell syndrome 3	GLikely pathogenic
Select item 917502	NM_000612.6(IGF2):c.157+3A>C	INS-IGF2, IGF2	Single nucleotide variant (intron variant)	Silver-Russell syndrome 3	GPathogenic
Select item 917501	NM_000612.6(IGF2):c.101G>A (p.Gly34Asp)	IGF2, INS-IGF2 (G34D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 917500	NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs)	IGF2, INS-IGF2 (L93fs +1 more)	Indel (frameshift variant +1 more)	Silver-Russell syndrome 3	GPathogenic
Select item 204491	NM_000612.6(IGF2):c.23C>A (p.Ser8Ter)	IGF2, INS-IGF2 (S64* +1 more)	Single nucleotide variant (nonsense +1 more)	Silver-Russell syndrome 3	GPathogenic