Total 29 pathogenic variants reported for Silver-Russell syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)	SNV Germline	Chr11:2884119	Pathogenic	Silver-Russell syndrome 1 Beckwith-Wiedemann syndrome IMAGe syndrome	Criteria Provided Single Submitter	CA274888	rs_318240750	3 SubmittersRCV000172991 RCV002516573 RCV004816250
NM_000612.6(IGF2):c.23C>A (p.Ser8Ter)	SNV Germline	Chr11:2135501	Pathogenic	Silver-Russell syndrome 3	No Assertion Criteria Provided	CA358705	rs_869320620	1 SubmittersRCV000186560
NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)	SNV Germline	Chr12:65828082	Pathogenic	Silver-Russell syndrome 1 Silver-Russell syndrome 5 Condition: not provided	Criteria Provided Single Submitter	CA385678829	rs_1114167319	3 SubmittersRCV000491113 RCV001174518 RCV003223633
NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)	SNV Germline	Chr11:2135446	Pathogenic	Condition: not provided Silver-Russell syndrome 1	Criteria Provided Single Submitter	CA16616844	rs_1064794050	2 SubmittersRCV000479354 RCV000491853
NM_001127598.3(IGF2):c.97C>T (p.Gln33Ter)	SNV Germline	Chr11:2140200	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Beckwith-Wiedemann syndrome Wilms tumor 1 Silver-Russell syndrome 3 Silver-Russell syndrome 1	Criteria Provided Conflicting Classifications	CA5817794	rs_200441006	4 SubmittersRCV000882263 RCV002539309 RCV005392504
NM_000612.6(IGF2):c.101G>A (p.Gly34Asp)	SNV Germline	Chr11:2135423	Pathogenic	Silver-Russell syndrome 3 Condition: not provided	Criteria Provided Single Submitter	CA379113898	rs_1858937182	2 SubmittersRCV001174514 RCV001558444
NM_000612.6(IGF2):c.157+3A>C	SNV Germline	Chr11:2135364	Pathogenic	Silver-Russell syndrome 3	No Assertion Criteria Provided	CA1139661770	rs_1858932834	1 SubmittersRCV001174515
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	SNV Germline	Chr11:2135424	Likely pathogenic	Silver-Russell syndrome 3 Silver-Russell syndrome 3 Wilms tumor 1 Beckwith-Wiedemann syndrome Silver-Russell syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA379113899	rs_1858937359	2 SubmittersRCV001253240 RCV002491857
NM_000612.6(IGF2):c.59C>A (p.Ser20Ter)	SNV Germline	Chr11:2135465	Likely pathogenic	Silver-Russell syndrome 3	Criteria Provided Single Submitter	CA379113988	rs_142012621	1 SubmittersRCV002226891
NM_000612.6(IGF2):c.-6-2A>T	SNV Germline	Chr11:2135531	Pathogenic	Silver-Russell syndrome 3	Criteria Provided Single Submitter	CA379114121	rs_2495591068	1 SubmittersRCV002290217
NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)	SNV Germline	Chr11:2133091	Conflicting classifications of pathogenicity	Condition: not provided Silver-Russell syndrome 1 Wilms tumor 1 Beckwith-Wiedemann syndrome Silver-Russell syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5817613	rs_150866176	3 SubmittersRCV002591496 RCV005399124 RCV004985214
NM_000612.6(IGF2):c.357G>A (p.Trp119Ter)	SNV Unknown	Chr11:2133173	Likely pathogenic	Silver-Russell syndrome 3	Criteria Provided Single Submitter	CA379113301	rs_2495572126	1 SubmittersRCV003228775
NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter)	SNV Germline	Chr8:56167157	Likely pathogenic	Condition: not provided Silver-russell syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA4754894	rs_780434899	2 SubmittersRCV003234408 RCV004796790
NM_000612.6(IGF2):c.-6-2A>G	SNV Germline	Chr11:2135531	Pathogenic	Silver-Russell syndrome 3	Criteria Provided Single Submitter	CA379114122	rs_2495591068	1 SubmittersRCV003479529
NM_000612.6(IGF2):c.252T>G (p.Cys84Trp)	SNV Germline	Chr11:2133571	Likely pathogenic	Silver-Russell syndrome 3	Criteria Provided Single Submitter		rs_2495576425	1 SubmittersRCV004556911
NM_002655.3(PLAG1):c.199C>T (p.Gln67Ter)	SNV Germline	Chr8:56168071	Likely pathogenic	Silver-russell syndrome 4	Criteria Provided Single Submitter			1 SubmittersRCV005252162