ClinVar for Gene (Select 723961) - ClinVar - NCBI

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	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 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 3108532	NM_000612.6(IGF2):c.407C>G (p.Ala136Gly)	IGF2, INS-IGF2 (A192G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108531	NM_000612.6(IGF2):c.175G>A (p.Val59Met)	IGF2, INS-IGF2 (V115M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108530	NM_000612.6(IGF2):c.130G>A (p.Val44Ile)	IGF2, INS-IGF2 (V44I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3108529	NM_000612.6(IGF2):c.-3C>T	IGF2, INS-IGF2 (P56S)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 3068922	NM_001042376.3(INS-IGF2):c.367T>C (p.Cys123Arg)	IGF2, INS-IGF2 (C123R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3068899	NM_000612.6(IGF2):c.509del (p.Gly170fs)	IGF2, INS-IGF2 (G170fs +1 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 3063645	NM_000612.6(IGF2):c.513C>A (p.Ala171=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3061189	NM_000612.6(IGF2):c.521A>C (p.Glu174Ala)	IGF2, INS-IGF2 (E174A +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 3057129	NM_001127598.3(IGF2):c.39C>G (p.Pro13=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	IGF2-related disorder	GBenign
Select item 3055661	NM_000612.6(IGF2):c.181C>T (p.Arg61Cys)	IGF2, INS-IGF2 (R117C +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 3054992	NM_000207.3(INS):c.188-40C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3040666	NM_000207.3(INS):c.6C>T (p.Ala2=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	INS-IGF2-related disorder	GLikely benign
Select item 3037991	NM_000612.6(IGF2):c.14T>A (p.Met5Lys)	IGF2, INS-IGF2 (M5K +1 more)	Single nucleotide variant (missense variant +1 more)	IGF2-related disorder	GUncertain significance
Select item 3036718	NM_000207.3(INS):c.187+6C>G	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3035689	NM_000207.3(INS):c.187+245C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GLikely benign
Select item 3033630	NM_000207.3(INS):c.224G>A (p.Gly75Asp)	INS, INS-IGF2 (G75D)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GLikely benign
Select item 3031610	NM_000207.3(INS):c.279A>G (p.Glu93=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	INS-related disorder	GLikely benign
Select item 3029536	NM_000207.3(INS):c.*49G>A	INS, INS-IGF2	Single nucleotide variant (3 prime UTR variant +1 more)	INS-related disorder	GLikely benign
Select item 3023243	NM_000612.6(IGF2):c.517C>T (p.Pro173Ser)	IGF2, INS-IGF2 (P173S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3020391	NM_000207.3(INS):c.188-17G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3010214	NM_000612.6(IGF2):c.321A>C (p.Arg107Ser)	INS-IGF2, IGF2 (R107S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2989064	NM_000612.6(IGF2):c.5G>A (p.Gly2Glu)	IGF2, INS-IGF2 (G58E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969644	NM_000612.6(IGF2):c.420C>T (p.His140=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968518	NM_000612.6(IGF2):c.94C>T (p.Leu32=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2961583	NM_000612.6(IGF2):c.198C>T (p.Ile66=)	INS-IGF2, IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958220	NM_000612.6(IGF2):c.158-20C>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956557	NM_000612.6(IGF2):c.460C>T (p.Arg154Cys)	IGF2, INS-IGF2 (R210C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956324	NM_000207.3(INS):c.15G>A (p.Met5Ile)	INS, INS-IGF2 (M5I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896604	NM_000612.6(IGF2):c.293C>T (p.Pro98Leu)	IGF2, INS-IGF2 (P98L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2890973	NM_000612.6(IGF2):c.166G>A (p.Ala56Thr)	IGF2, INS-IGF2 (A112T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2888440	NM_000612.6(IGF2):c.438C>T (p.Leu146=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885052	NM_000612.6(IGF2):c.305C>T (p.Pro102Leu)	IGF2, INS-IGF2 (P158L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2880078	NM_000612.6(IGF2):c.157+8G>C	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873270	NM_000612.6(IGF2):c.403C>T (p.Arg135Cys)	IGF2, INS-IGF2 (R191C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869950	NM_000612.6(IGF2):c.307-11T>G	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2864095	NM_000612.6(IGF2):c.318C>T (p.Pro106=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2862531	NM_000207.3(INS):c.317A>T (p.Glu106Val)	INS, INS-IGF2 (E106V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856439	NM_000207.3(INS):c.272T>C (p.Ile91Thr)	INS, INS-IGF2 (I91T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856101	NM_000612.6(IGF2):c.79C>T (p.Arg27Cys)	IGF2, INS-IGF2 (R27C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2822542	NM_000207.3(INS):c.249G>A (p.Glu83=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2821235	NM_000612.6(IGF2):c.372G>A (p.Gln124=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2807325	NM_000612.6(IGF2):c.418C>T (p.His140Tyr)	IGF2, INS-IGF2 (H196Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	GUncertain significance
Select item 2731930	NM_000612.6(IGF2):c.217C>T (p.Arg73Cys)	IGF2, INS-IGF2 (R73C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2694226	NM_000207.3(INS):c.316_318del (p.Glu106del)	INS, INS-IGF2 (E106del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2684632	GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3	ANO9, AP2A2 +89 more	Copy number gain	not provided	GPathogenic
Select item 2682447	NM_000612.6(IGF2):c.232G>A (p.Ala78Thr)	IGF2, INS-IGF2 (A134T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2681328	NM_000612.6(IGF2):c.54C>T (p.Phe18=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664354	NM_000207.3(INS):c.104T>A (p.Leu35Gln)	INS, INS-IGF2 (L35Q)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 2641354	NM_001042376.3(INS-IGF2):c.378T>G (p.Ala126=)	IGF2, INS-IGF2	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2637040	NM_000612.6(IGF2):c.157+5G>A	IGF2, INS-IGF2	Single nucleotide variant (intron variant)	IGF2-related disorder	GPathogenic
Select item 2636035	NM_000207.3(INS):c.206G>A (p.Gly69Asp)	INS, INS-IGF2 (G69D)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GUncertain significance
Select item 2631502	NM_000207.3(INS):c.284G>A (p.Cys95Tyr)	INS, INS-IGF2 (C95Y)	Single nucleotide variant (missense variant +1 more)	INS-related disorder	GLikely pathogenic
Select item 2630683	NM_000207.3(INS):c.188-43C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	INS-related disorder	GUncertain significance
Select item 2630345	NM_000207.3(INS):c.136C>T (p.Arg46Ter)	INS, INS-IGF2 (R46*)	Single nucleotide variant (nonsense +1 more)	INS-related disorder	GLikely pathogenic
Select item 2617071	NM_000612.6(IGF2):c.412C>T (p.Arg138Trp)	IGF2, INS-IGF2 (R138W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	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 2475345	NM_000612.6(IGF2):c.10C>G (p.Pro4Ala)	IGF2, INS-IGF2 (P4A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2446015	NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)	IGF2, INS-IGF2 (E36* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2443150	NM_000207.3(INS):c.299G>A (p.Cys100Tyr)	INS, INS-IGF2 (C100Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2443149	NM_000207.3(INS):c.187+391C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 2428828	NM_000207.3(INS):c.188-5_188-4insGCGCAGTGGGGCACCTGCCACTGCGC	INS, INS-IGF2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2427669	NC_000011.9:g.(?_1278740)_(2906719_?)dup	ASCL2, BRSK2 +32 more	Duplication	Autosomal recessive DOPA responsive dystonia	GUncertain significance
Select item 2425075	NC_000011.9:g.(?_721044)_(3988932_?)dup	AP2A2, ART1 +65 more	Duplication	not provided	GUncertain significance
Select item 2414050	NM_000612.6(IGF2):c.412C>G (p.Arg138Gly)	IGF2, INS-IGF2 (R138G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2409469	NM_000612.6(IGF2):c.505G>T (p.Gly169Trp)	IGF2, INS-IGF2 (G169W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 2367504	NM_000612.6(IGF2):c.21G>T (p.Lys7Asn)	IGF2, INS-IGF2 (K63N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2363787	NM_000612.6(IGF2):c.505G>C (p.Gly169Arg)	IGF2, INS-IGF2 (G225R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359297	NM_000612.6(IGF2):c.503A>C (p.His168Pro)	IGF2, INS-IGF2 (H168P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324468	NM_000612.6(IGF2):c.518C>T (p.Pro173Leu)	IGF2, INS-IGF2 (P229L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2311109	NM_000207.3(INS):c.52G>C (p.Gly18Arg)	INS, INS-IGF2 (G18R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294281	NM_001042376.3(INS-IGF2):c.325A>G (p.Arg109Gly)	IGF2, INS-IGF2 (R109G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2284265	NM_000207.3(INS):c.145T>C (p.Phe49Leu)	INS, INS-IGF2 (F49L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277957	NM_000612.6(IGF2):c.-2C>G	IGF2, INS-IGF2 (P56R)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2261726	NM_001042376.3(INS-IGF2):c.212C>G (p.Ser71Cys)	IGF2, INS-IGF2 (S71C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2257149	NM_001042376.3(INS-IGF2):c.352G>C (p.Val118Leu)	IGF2, INS-IGF2 (V118L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2228753	NM_000612.6(IGF2):c.100G>C (p.Gly34Arg)	IGF2, INS-IGF2 (G90R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2223330	NM_000612.6(IGF2):c.499G>T (p.Ala167Ser)	IGF2, INS-IGF2 (A167S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2179727	NM_000207.3(INS):c.48C>G (p.Leu16=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2178882	NM_000612.6(IGF2):c.439G>A (p.Glu147Lys)	IGF2, INS-IGF2 (E147K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2178673	NM_000612.6(IGF2):c.439G>C (p.Glu147Gln)	IGF2, INS-IGF2 (E147Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152100	NM_000207.3(INS):c.277G>A (p.Glu93Lys)	INS, INS-IGF2 (E93K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2134425	NM_000612.6(IGF2):c.89_98del (p.Glu30fs)	IGF2, INS-IGF2 (E30fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2111479	NM_000612.6(IGF2):c.370C>G (p.Gln124Glu)	IGF2, INS-IGF2 (Q124E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2107814	NM_000612.6(IGF2):c.158-20_158-17del	IGF2, INS-IGF2	Deletion (intron variant)	not provided	GUncertain significance
Select item 2090135	NM_000612.6(IGF2):c.78C>T (p.Tyr26=)	IGF2, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082658	NM_000612.6(IGF2):c.495C>G (p.Asp165Glu)	IGF2, INS-IGF2 (D165E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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