"GeneDx"[submitter] AND "IGF2"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 451532	NM_000612.6(IGF2):c.518dup (p.Glu174fs)	IGF2, INS-IGF2 (E230fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3372485	NM_000612.6(IGF2):c.518del (p.Pro173fs)	IGF2, INS-IGF2 (P173fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1196226	NM_000612.6(IGF2):c.490C>T (p.Gln164Ter)	IGF2, INS-IGF2 (Q164* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 504012	NM_000612.6(IGF2):c.472del (p.Pro157_Leu158insTer)	IGF2, INS-IGF2	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 3340246	NM_000612.6(IGF2):c.404G>A (p.Arg135His)	IGF2, INS-IGF2 (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2504717	NM_000612.6(IGF2):c.163C>T (p.Pro55Ser)	IGF2, INS-IGF2 (P111S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2637040	NM_000612.6(IGF2):c.157+5G>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 2799899	NM_000612.6(IGF2):c.145G>A (p.Gly49Ser)	IGF2, INS-IGF2 (G105S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
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 1187222	NM_000612.6(IGF2):c.100G>A (p.Gly34Ser)	IGF2, INS-IGF2 (G34S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 373080	NM_000612.6(IGF2):c.99C>A (p.Cys33Ter)	INS-IGF2, IGF2 (C33* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 372980	NM_000612.6(IGF2):c.97T>C (p.Cys33Arg)	IGF2, INS-IGF2 (C33R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 253036	NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)	IGF2, INS-IGF2 (Y26* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3371601	NM_000612.6(IGF2):c.65G>A (p.Cys22Tyr)	IGF2, INS-IGF2 (C22Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373607	NM_000612.6(IGF2):c.16G>C (p.Gly6Arg)	IGF2, INS-IGF2 (G62R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373015	NM_001127598.3(IGF2):c.46G>A (p.Glu16Lys)	IGF2, INS-IGF2 (E16K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304615	NM_001127598.3(IGF2):c.34G>C (p.Ala12Pro)	IGF2, INS-IGF2 (A12P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361536	NM_000612.6(IGF2):c.379C>T (p.Arg127Cys)	IGF2 (R127C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360772	NM_000612.6(IGF2):c.221G>C (p.Ser74Thr)	IGF2 (S130T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360720	NM_000612.6(IGF2):c.250T>G (p.Cys84Gly)	IGF2 (C140G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359857	NM_000612.6(IGF2):c.113T>A (p.Val38Glu)	IGF2 (V38E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 23