ClinVar for MedGen (Select 338622) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068521	NM_000875.5(IGF1R):c.3578C>T (p.Ser1193Leu)	IGF1R (S1192L +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 3068146	NM_000875.5(IGF1R):c.803C>A (p.Thr268Asn)	IGF1R (T268N)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3065985	NM_000875.5(IGF1R):c.822G>A (p.Trp274Ter)	IGF1R (W274*)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
Select item 3024279	NM_000875.5(IGF1R):c.926C>T (p.Ser309Leu)	IGF1R (S309L)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3024244	NM_000875.5(IGF1R):c.3178_3186+7del	IGF1R	Deletion (splice donor variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2689246	NM_000875.5(IGF1R):c.3952G>A (p.Asp1318Asn)	IGF1R (D1318N +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GUncertain significance
Select item 2689245	NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys)	IGF1R (R210C)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GUncertain significance
Select item 2671741	NM_000875.5(IGF1R):c.1042C>T (p.Gln348Ter)	IGF1R, LOC126862245 (Q348*)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
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 2664702	NM_000875.5(IGF1R):c.2T>A (p.Met1Lys)	IGF1R, IRAIN (M1K)	Single nucleotide variant (non-coding transcript variant +2 more)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 2664069	NM_000875.5(IGF1R):c.3838TAC[1] (p.Tyr1281del)	IGF1R (Y1280del +1 more)	Microsatellite (inframe_deletion)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2627447	NM_000875.5(IGF1R):c.1084A>G (p.Ile362Val)	LOC126862245, IGF1R (I362V)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
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 2505572	NM_000875.5(IGF1R):c.2869G>A (p.Val957Ile)	IGF1R (V956I +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2502830	NM_000875.5(IGF1R):c.2215C>T (p.Arg739Trp)	IGF1R (R739W)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2444395	NM_000875.5(IGF1R):c.2927T>C (p.Val976Ala)	IGF1R (V975A +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2432820	NM_000875.5(IGF1R):c.1814G>A (p.Arg605His)	IGF1R (R605H)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
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 2432817	NM_000875.5(IGF1R):c.4024G>A (p.Glu1342Lys)	IGF1R (E1341K +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
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 2432815	NM_000875.5(IGF1R):c.2653T>C (p.Tyr885His)	IGF1R (Y885H)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2432814	NM_000875.5(IGF1R):c.3469A>G (p.Thr1157Ala)	IGF1R (T1156A +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 2432813	NM_000875.5(IGF1R):c.4087C>T (p.Gln1363Ter)	IGF1R (Q1362* +1 more)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1709246	NM_000875.5(IGF1R):c.2810T>C (p.Ile937Thr)	IGF1R (I936T +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1705371	NM_000875.5(IGF1R):c.3457+1dup	IGF1R	Duplication (splice donor variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 1527907	NM_000875.5(IGF1R):c.824G>A (p.Arg275His)	IGF1R (R275H)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 1330207	GRCh37/hg19 15q26.3(chr15:99251887-99644855)x3	IGF1R, PGPEP1L	Copy number gain	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1310141	NM_000875.5(IGF1R):c.1464T>G (p.Cys488Trp)	IGF1R (C488W)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 1285018	NM_000875.5(IGF1R):c.2782+17G>A	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1206171	NM_000875.5(IGF1R):c.2202-16T>G	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1188841	NM_000875.5(IGF1R):c.2321_2322del (p.Glu774fs)	IGF1R (E774fs)	Microsatellite (frameshift variant)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
Select item 1172630	NM_000875.5(IGF1R):c.1906_1907dup (p.Pro637fs)	IGF1R (P637fs)	Microsatellite (frameshift variant)	Microcephaly +1 more	GLikely pathogenic
Select item 1172619	NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)	IGF1R, LOC126862245 (R365*)	Single nucleotide variant (nonsense)	Growth delay due to insulin-like growth factor I resistance +2 more	GPathogenic/Likely pathogenic
Select item 1077175	NM_000875.5(IGF1R):c.2155C>T (p.Arg719Cys)	IGF1R (R719C)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 1056908	NM_000875.5(IGF1R):c.3763A>G (p.Met1255Val)	IGF1R (M1254V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1049829	NM_000875.5(IGF1R):c.3932C>T (p.Ser1311Leu)	IGF1R (S1310L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032481	NM_000875.5(IGF1R):c.3648G>C (p.Leu1216Phe)	IGF1R (L1215F +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	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
Select item 1029965	NM_000875.5(IGF1R):c.4066G>A (p.Glu1356Lys)	IGF1R (E1355K +1 more)	Single nucleotide variant (missense variant)	IGF1R-related condition +3 more	GUncertain significance
Select item 1029964	NM_000875.5(IGF1R):c.3722+5G>A	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 1029962	NM_000875.5(IGF1R):c.2042A>G (p.Glu681Gly)	IGF1R (E681G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029961	NM_000875.5(IGF1R):c.1762A>G (p.Met588Val)	IGF1R (M588V)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 998001	NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr)	IGF1R (A578T)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 977609	NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter)	IGF1R (R753*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 976420	NM_000875.5(IGF1R):c.3364G>A (p.Gly1122Ser)	IGF1R (G1121S +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 976309	NM_000875.5(IGF1R):c.43G>A (p.Gly15Arg)	IGF1R, IRAIN (G15R)	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 976283	NM_000875.5(IGF1R):c.3473G>A (p.Arg1158Gln)	IGF1R (R1157Q +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 973337	NM_000875.5(IGF1R):c.71C>T (p.Ser24Leu)	IGF1R, IRAIN (S24L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 973012	NM_000875.5(IGF1R):c.1199C>T (p.Ser400Phe)	IGF1R (S400F)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	Gnot provided
Select item 930680	NM_000875.5(IGF1R):c.3809del (p.Met1270fs)	IGF1R (M1269fs +1 more)	Deletion (frameshift variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888538	NM_000875.5(IGF1R):c.*6578A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888537	NM_000875.5(IGF1R):c.*6540C>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888536	NM_000875.5(IGF1R):c.*6499A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888535	NM_000875.5(IGF1R):c.*6345A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888534	NM_000875.5(IGF1R):c.*6329G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 888483	NM_000875.5(IGF1R):c.*5708T>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888482	NM_000875.5(IGF1R):c.*5639A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888424	NM_000875.5(IGF1R):c.*5144G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888423	NM_000875.5(IGF1R):c.*5092C>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888422	NM_000875.5(IGF1R):c.*5002T>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 888421	NM_000875.5(IGF1R):c.*4920C>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888363	NM_000875.5(IGF1R):c.*4437C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888362	NM_000875.5(IGF1R):c.*4406C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888361	NM_000875.5(IGF1R):c.*4403C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 888360	NM_000875.5(IGF1R):c.*4392G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888289	NM_000875.5(IGF1R):c.*3563T>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888288	NM_000875.5(IGF1R):c.*3526G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888287	NM_000875.5(IGF1R):c.*3471C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 888224	NM_000875.5(IGF1R):c.*2880C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888223	NM_000875.5(IGF1R):c.*2812A>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888222	NM_000875.5(IGF1R):c.*2808T>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888221	NM_000875.5(IGF1R):c.*2685T>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888164	NM_000875.5(IGF1R):c.*1823C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888163	NM_000875.5(IGF1R):c.*1799C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888162	NM_000875.5(IGF1R):c.*1767T>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888161	NM_000875.5(IGF1R):c.*1763A>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888103	NM_000875.5(IGF1R):c.*1064A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888102	NM_000875.5(IGF1R):c.*1015C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888101	NM_000875.5(IGF1R):c.*977C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GBenign
Select item 888036	NM_000875.5(IGF1R):c.*83A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 888035	NM_000875.5(IGF1R):c.*63A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 888034	NM_000875.5(IGF1R):c.*55G>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887965	NM_000875.5(IGF1R):c.3588-8C>G	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887964	NM_000875.5(IGF1R):c.3453C>T (p.Ile1151=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887904	NM_000875.5(IGF1R):c.1671G>A (p.Pro557=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 887903	NM_000875.5(IGF1R):c.1537C>T (p.Arg513Trp)	IGF1R (R513W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887341	NM_000875.5(IGF1R):c.*7011A>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887289	NM_000875.5(IGF1R):c.*6306T>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887288	NM_000875.5(IGF1R):c.*6175A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887287	NM_000875.5(IGF1R):c.*6144A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887231	NM_000875.5(IGF1R):c.*5528G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GBenign
Select item 887230	NM_000875.5(IGF1R):c.*5527C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887229	NM_000875.5(IGF1R):c.*5518G>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887228	NM_000875.5(IGF1R):c.*5516G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887167	NM_000875.5(IGF1R):c.*4857A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887166	NM_000875.5(IGF1R):c.*4835A>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887165	NM_000875.5(IGF1R):c.*4817C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887164	NM_000875.5(IGF1R):c.*4765G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 887092	NM_000875.5(IGF1R):c.*4349A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance

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