IGF1R[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2958794	NM_000875.5(IGF1R):c.95-18C>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909186	NM_000875.5(IGF1R):c.95-11TC[3]	IGF1R	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2955194	NM_000875.5(IGF1R):c.99C>T (p.Cys33=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701740	NM_000875.5(IGF1R):c.100G>C (p.Gly34Arg)	IGF1R (G34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884695	NM_000875.5(IGF1R):c.114C>T (p.Asp38=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 635840	NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys)	IGF1R (R40C)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 2582306	NM_000875.5(IGF1R):c.119G>A (p.Arg40His)	IGF1R (R40H)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 446756	NM_000875.5(IGF1R):c.119G>T (p.Arg40Leu)	IGF1R (R40L)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	Gprotective
Select item 3053026	NM_000875.5(IGF1R):c.123C>T (p.Asn41=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
Select item 2836667	NM_000875.5(IGF1R):c.148G>T (p.Glu50Ter)	IGF1R (E50*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1914399	NM_000875.5(IGF1R):c.159G>A (p.Thr53=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253033	NM_000875.5(IGF1R):c.166G>A (p.Glu56Lys)	IGF1R (E56K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597907	NM_000875.5(IGF1R):c.189C>T (p.Leu63=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1695701	NM_000875.5(IGF1R):c.190A>G (p.Ile64Val)	IGF1R (I64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649749	NM_000875.5(IGF1R):c.201C>T (p.Ala67=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1723512	NM_000875.5(IGF1R):c.208T>G (p.Tyr70Asp)	IGF1R (Y70D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952892	NM_000875.5(IGF1R):c.212G>A (p.Arg71His)	IGF1R (R71H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 281171	NM_000875.5(IGF1R):c.225C>T (p.Phe75=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1029963	NM_000875.5(IGF1R):c.236C>T (p.Thr79Met)	IGF1R (T79M)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2108055	NM_000875.5(IGF1R):c.237G>C (p.Thr79=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328356	NM_000875.5(IGF1R):c.237G>A (p.Thr79=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724411	NM_000875.5(IGF1R):c.237G>T (p.Thr79=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2815475	NM_000875.5(IGF1R):c.245C>T (p.Thr82Ile)	IGF1R (T82I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958089	NM_000875.5(IGF1R):c.246C>T (p.Thr82=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337175	NM_000875.5(IGF1R):c.247G>A (p.Glu83Lys)	IGF1R (E83K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884696	NM_000875.5(IGF1R):c.261G>C (p.Leu87=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 14792	NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter)	IGF1R (R89*)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor I resistance	Gprotective
Select item 796863	NM_000875.5(IGF1R):c.279C>T (p.Leu93=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580693	NM_000875.5(IGF1R):c.280G>A (p.Glu94Lys)	IGF1R (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134060	NM_000875.5(IGF1R):c.289G>A (p.Gly97Arg)	IGF1R (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070240	NM_000875.5(IGF1R):c.296T>A (p.Leu99His)	IGF1R (L99H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904890	NM_000875.5(IGF1R):c.300C>T (p.Phe100=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236387	NM_000875.5(IGF1R):c.302C>G (p.Pro101Arg)	IGF1R (P101R)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 981354	NM_000875.5(IGF1R):c.302C>T (p.Pro101Leu)	IGF1R (P101L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1987348	NM_000875.5(IGF1R):c.303C>T (p.Pro101=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903707	NM_000875.5(IGF1R):c.303C>A (p.Pro101=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 597714	NM_000875.5(IGF1R):c.318C>T (p.Ile106=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2880112	NM_000875.5(IGF1R):c.320G>A (p.Arg107His)	IGF1R (R107H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815476	NM_000875.5(IGF1R):c.321C>G (p.Arg107=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 418254	NM_000875.5(IGF1R):c.323del (p.Gly108fs)	IGF1R (G108fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3007169	NM_000875.5(IGF1R):c.330A>G (p.Lys110=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3258109	NM_000875.5(IGF1R):c.341A>G (p.Asn114Ser)	IGF1R (N114S)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3340623	NM_000875.5(IGF1R):c.346G>A (p.Ala116Thr)	IGF1R (A116T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 452581	NM_000875.5(IGF1R):c.358T>G (p.Phe120Val)	IGF1R (F120V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446754	NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys)	IGF1R (E121K)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 2783653	NM_000875.5(IGF1R):c.370A>C (p.Asn124His)	IGF1R (N124H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305546	NM_000875.5(IGF1R):c.379G>A (p.Asp127Asn)	IGF1R (D127N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984650	NM_000875.5(IGF1R):c.382A>G (p.Ile128Val)	IGF1R (I128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019461	NM_000875.5(IGF1R):c.384T>A (p.Ile128=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635841	NM_000875.5(IGF1R):c.384T>C (p.Ile128=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
Select item 714601	NM_000875.5(IGF1R):c.402G>A (p.Arg134=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GBenign
Select item 2981759	NM_000875.5(IGF1R):c.404A>G (p.Asn135Ser)	IGF1R (N135S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593836	NM_000875.5(IGF1R):c.418dup (p.Ala140fs)	IGF1R (A140fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 14790	NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln)	IGF1R (R138Q)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	Gprotective
Select item 3236427	NM_000875.5(IGF1R):c.419C>A (p.Ala140Asp)	IGF1R (A140D)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1303457	NM_000875.5(IGF1R):c.419C>T (p.Ala140Val)	IGF1R (A140V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 14791	NM_000875.5(IGF1R):c.435A>C (p.Lys145Asn)	IGF1R (K145N)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	Gprotective
Select item 1344975	NM_000875.5(IGF1R):c.436A>G (p.Asn146Asp)	IGF1R (N146D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350238	NM_000875.5(IGF1R):c.440C>T (p.Ala147Val)	IGF1R (A147V)	Single nucleotide variant (missense variant)	IGF1R-related disorder	GUncertain significance
Select item 884697	NM_000875.5(IGF1R):c.457T>A (p.Ser153Thr)	IGF1R (S153T)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2836526	NM_000875.5(IGF1R):c.474C>T (p.Ser158=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988672	NM_000875.5(IGF1R):c.489G>A (p.Ala163=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812803	NM_000875.5(IGF1R):c.492G>A (p.Val164=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2158119	NM_000875.5(IGF1R):c.492G>T (p.Val164=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2747970	NM_000875.5(IGF1R):c.515A>G (p.Asn172Ser)	IGF1R (N172S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709802	NM_000875.5(IGF1R):c.526A>G (p.Lys176Glu)	IGF1R (K176E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 884698	NM_000875.5(IGF1R):c.537G>A (p.Gly179=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 745632	NM_000875.5(IGF1R):c.549A>G (p.Pro183=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 195101	NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)	IGF1R (P190S)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 2077510	NM_000875.5(IGF1R):c.570G>A (p.Pro190=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664986	NM_000875.5(IGF1R):c.575G>A (p.Cys192Tyr)	IGF1R (C192Y)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 691568	NM_000875.5(IGF1R):c.580_581del (p.Lys194fs)	IGF1R (K194fs)	Deletion (frameshift variant)	Craniosynostosis syndrome	GUncertain significance
Select item 1665363	NM_000875.5(IGF1R):c.588C>G (p.Thr196=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2294360	NM_000875.5(IGF1R):c.591C>G (p.Ile197Met)	IGF1R (I197M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1307389	NM_000875.5(IGF1R):c.596A>C (p.Asn199Thr)	IGF1R (N199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 885638	NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)	IGF1R (N202S)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 2918374	NM_000875.5(IGF1R):c.606C>T (p.Asn202=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738643	NM_000875.5(IGF1R):c.607T>C (p.Tyr203His)	IGF1R (Y203H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689245	NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys)	IGF1R (R210C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2995656	NM_000875.5(IGF1R):c.629G>A (p.Arg210His)	IGF1R (R210H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958476	NM_000875.5(IGF1R):c.640+12G>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622379	NM_000875.5(IGF1R):c.640+20C>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2987983	NM_000875.5(IGF1R):c.641-14CT[3]	IGF1R	Microsatellite (intron variant)	not provided	GLikely benign
Select item 317440	NM_000875.5(IGF1R):c.641-14C>T	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2443553	NM_000875.5(IGF1R):c.641-2A>G	IGF1R	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 735484	NM_000875.5(IGF1R):c.654G>A (p.Thr218=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432816	NM_000875.5(IGF1R):c.665G>A (p.Arg222Gln)	IGF1R (R222Q)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 759356	NM_000875.5(IGF1R):c.687G>A (p.Glu229=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645731	NM_000875.5(IGF1R):c.699C>T (p.Pro233=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 446755	NM_000875.5(IGF1R):c.700G>A (p.Glu234Lys)	IGF1R (E234K)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	Gprotective
Select item 2864260	NM_000875.5(IGF1R):c.717C>T (p.Cys239=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050288	NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr)	IGF1R (A241T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1965393	NM_000875.5(IGF1R):c.722C>T (p.Ala241Val)	IGF1R (A241V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 715818	NM_000875.5(IGF1R):c.723G>A (p.Ala241=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791832	NM_000875.5(IGF1R):c.728A>G (p.Asp243Gly)	IGF1R (D243G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993967	NM_000875.5(IGF1R):c.729C>T (p.Asp243=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1979603	NM_000875.5(IGF1R):c.732C>T (p.Asn244=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432819	NM_000875.5(IGF1R):c.733G>A (p.Asp245Asn)	IGF1R (D245N)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2469836	NM_000875.5(IGF1R):c.736A>G (p.Thr246Ala)	IGF1R (T246A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029966	NM_000875.5(IGF1R):c.737C>T (p.Thr246Met)	IGF1R (T246M)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance

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