Related gene-specific medical variations for Gene (Select 51214) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3286143	NM_001042376.3(INS-IGF2):c.503A>G (p.Gln168Arg)	IGF2, IGF2-AS +1 more (Q168R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3109906	NM_001042376.3(INS-IGF2):c.590G>A (p.Arg197His)	IGF2, IGF2-AS +1 more (R197H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3109905	NM_001042376.3(INS-IGF2):c.456C>A (p.Ser152Arg)	IGF2, IGF2-AS +1 more (S152R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2598281	NM_001042376.3(INS-IGF2):c.427G>A (p.Glu143Lys)	IGF2, IGF2-AS +1 more (E143K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455536	NM_001042376.3(INS-IGF2):c.581G>A (p.Arg194Gln)	IGF2, IGF2-AS +1 more (R194Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2396958	NM_001042376.3(INS-IGF2):c.460C>G (p.Gln154Glu)	IGF2, IGF2-AS +1 more (Q154E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315531	NM_001042376.3(INS-IGF2):c.410G>A (p.Gly137Asp)	IGF2, IGF2-AS +1 more (G137D)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315109	NM_001042376.3(INS-IGF2):c.584C>G (p.Pro195Arg)	IGF2, IGF2-AS +1 more (P195R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 14749	NM_001007139.6(IGF2):c.-248-73=	IGF2, IGF2-AS +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM	GBenign