ClinVar for MedGen (Select 894912) - ClinVar - NCBI

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Items: 13

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25023561.	NM_000612.6(IGF2):c.357G>A (p.Trp119Ter) GRCh37: Chr11:2154403 GRCh38: Chr11:2133173	IGF2, INS-IGF2	W119, W175	Silver-Russell syndrome 3	Likely pathogenic (Apr 3, 2023)	criteria provided, single submitter
Select item 24995912.	NM_000612.6(IGF2):c.243_244del (p.Glu81fs) GRCh37: Chr11:2154809-2154810 GRCh38: Chr11:2133579-2133580	IGF2, INS-IGF2	E137fs, E81fs	Silver-Russell syndrome 3	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24421253.	NM_000612.6(IGF2):c.106del (p.Glu36fs) GRCh37: Chr11:2156648 GRCh38: Chr11:2135418	IGF2, INS-IGF2	E36fs, E92fs	Silver-Russell syndrome 3	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 17098754.	NM_000612.6(IGF2):c.-6-2A>T GRCh37: Chr11:2156761 GRCh38: Chr11:2135531	IGF2, INS-IGF2		Silver-Russell syndrome 3	Pathogenic (Aug 11, 2021)	criteria provided, single submitter
Select item 16792945.	NM_000612.6(IGF2):c.59C>A (p.Ser20Ter) GRCh37: Chr11:2156695 GRCh38: Chr11:2135465	IGF2, INS-IGF2	S20, S76	Silver-Russell syndrome 3	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 13285226.	NM_000612.6(IGF2):c.199G>A (p.Val67Ile) GRCh37: Chr11:2154854 GRCh38: Chr11:2133624	IGF2, INS-IGF2	V123I, V67I	Silver-Russell syndrome 3	Uncertain significance (May 12, 2021)	criteria provided, single submitter
Select item 9762267.	NM_000612.6(IGF2):c.27del (p.Met9fs) GRCh37: Chr11:2156727 GRCh38: Chr11:2135497	IGF2, INS-IGF2	M65fs, M9fs	Silver-Russell syndrome 3	Uncertain significance (Feb 22, 2017)	criteria provided, single submitter
Select item 9760618.	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) GRCh37: Chr11:2156654 GRCh38: Chr11:2135424	IGF2, INS-IGF2	G34C, G90C	Silver-Russell syndrome 3, Silver-Russell syndrome 1, Wilms tumor 1, Silver-Russell syndrome 3, Beckwith-Wiedemann syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9175039.	NM_000612.6(IGF2):c.195del (p.Ile66fs) GRCh37: Chr11:2154858 GRCh38: Chr11:2133628	IGF2, INS-IGF2	I122fs, I66fs	Silver-Russell syndrome 3	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 91750210.	NM_000612.6(IGF2):c.157+3A>C GRCh37: Chr11:2156594 GRCh38: Chr11:2135364	INS-IGF2, IGF2		Silver-Russell syndrome 3	Pathogenic (Jun 12, 2020)	no assertion criteria provided
Select item 91750111.	NM_000612.6(IGF2):c.101G>A (p.Gly34Asp) GRCh37: Chr11:2156653 GRCh38: Chr11:2135423	IGF2, INS-IGF2	G34D, G90D	not provided	Pathogenic (Oct 2, 2020)	criteria provided, single submitter
Select item 91750012.	NM_000612.6(IGF2):c.110_117delinsAGGTAA (p.Leu37fs) GRCh37: Chr11:2156637-2156644 GRCh38: Chr11:2135407-2135414	IGF2, INS-IGF2	L93fs, L37fs	Silver-Russell syndrome 3	Pathogenic (Jun 12, 2020)	no assertion criteria provided
Select item 20449113.	NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) GRCh37: Chr11:2156731 GRCh38: Chr11:2135501	IGF2, INS-IGF2	S64, S8	Silver-Russell syndrome 3	Pathogenic (Jul 23, 2015)	no assertion criteria provided