Related gene-specific medical variations for Gene (Select 3480) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3009960	NM_000875.5(IGF1R):c.48C>A (p.Leu16=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006121	NM_000875.5(IGF1R):c.954-12del	IGF1R, LOC126862245	Deletion (intron variant)	not provided	GLikely benign
Select item 2977764	NM_000875.5(IGF1R):c.954C>T (p.Ser318=)	IGF1R, LOC126862245	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2971601	NM_000875.5(IGF1R):c.986C>T (p.Pro329Leu)	IGF1R, LOC126862245 (P329L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955653	NM_000875.5(IGF1R):c.94+10_94+11del	IGF1R, IRAIN	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2893790	NM_000875.5(IGF1R):c.55C>T (p.Leu19Phe)	IGF1R, IRAIN (L19F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2890803	NM_000875.5(IGF1R):c.1083C>G (p.Leu361=)	IGF1R, LOC126862245	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875102	NM_000875.5(IGF1R):c.45del (p.Leu16fs)	IGF1R, IRAIN (L16fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2867060	NM_000875.5(IGF1R):c.1099G>T (p.Gly367Trp)	IGF1R, LOC126862245 (G367W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805446	NM_000875.5(IGF1R):c.60C>T (p.Ser20=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2746030	NM_000875.5(IGF1R):c.94+3_94+6del	IGF1R, IRAIN	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2711775	NM_000875.5(IGF1R):c.991G>A (p.Val331Ile)	IGF1R, LOC126862245 (V331I)	Single nucleotide variant (missense variant)	not provided	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 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 2630926	NM_000875.5(IGF1R):c.994T>G (p.Cys332Gly)	IGF1R, LOC126862245 (C332G)	Single nucleotide variant (missense variant)	IGF1R-related disorder	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 2604285	NM_000875.5(IGF1R):c.35C>G (p.Ser12Trp)	IGF1R, IRAIN (S12W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	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 2547255	NM_000875.5(IGF1R):c.59C>T (p.Ser20Phe)	IGF1R, IRAIN (S20F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	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 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 2320083	NM_000875.5(IGF1R):c.71C>G (p.Ser24Trp)	IGF1R, IRAIN (S24W)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305842	NM_000875.5(IGF1R):c.1030del (p.Val344fs)	IGF1R, LOC126862245 (V344fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1946349	NM_000875.5(IGF1R):c.80C>T (p.Pro27Leu)	IGF1R, IRAIN (P27L)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1935292	NM_000875.5(IGF1R):c.28C>T (p.Pro10Ser)	IGF1R, IRAIN (P10S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1921200	NM_000875.5(IGF1R):c.1102+16C>G	IGF1R, LOC126862245	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901336	NM_000875.5(IGF1R):c.94+15G>A	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1899912	NM_000875.5(IGF1R):c.954-14T>G	IGF1R, LOC126862245	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1699684	NM_000875.5(IGF1R):c.968C>G (p.Pro323Arg)	IGF1R, LOC126862245 (P323R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683267	NM_000875.5(IGF1R):c.-4A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	IGF1R-related disorder +1 more	GUncertain significance
Select item 1526473	GRCh37/hg19 15q26.3(chr15:98987929-99409358)	IGF1R	Copy number gain	not specified	GUncertain significance
Select item 1302375	NM_000875.5(IGF1R):c.1025A>G (p.Asp342Gly)	LOC126862245, IGF1R (D342G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213041	NM_000875.5(IGF1R):c.16G>A (p.Gly6Arg)	IGF1R, IRAIN (G6R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1172619	NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)	IGF1R, LOC126862245 (R365*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 1064824	NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter)	IGF1R, IRAIN (W26*)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
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 983160	GRCh37/hg19 15q26.3(chr15:99389874-99438394)x1	IGF1R	Copy number loss	See cases	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 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 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 815760	GRCh37/hg19 15q26.3(chr15:99467707-99507214)x1	IGF1R	Copy number loss	not provided	GLikely pathogenic
Select item 815757	GRCh37/hg19 15q26.3(chr15:98982492-99411100)x1	IGF1R	Copy number loss	not provided	GLikely pathogenic
Select item 744885	NM_000875.5(IGF1R):c.1035T>G (p.Thr345=)	IGF1R, LOC126862245	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 739870	NM_000875.5(IGF1R):c.94+7A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	IGF1R-related disorder +1 more	GLikely benign
Select item 739422	NM_000875.5(IGF1R):c.75C>T (p.Leu25=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 718201	NM_000875.5(IGF1R):c.15C>T (p.Ser5=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 686581	GRCh37/hg19 15q26.3(chr15:99387639-99436575)x1	IGF1R	Copy number loss	not provided	GUncertain significance
Select item 635843	NM_000875.5(IGF1R):c.995G>A (p.Cys332Tyr)	IGF1R, LOC126862245 (C332Y)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 501270	NM_000875.5(IGF1R):c.84G>A (p.Thr28=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369106	NM_000875.5(IGF1R):c.-51T>C	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GBenign
Select item 369105	NM_000875.5(IGF1R):c.-41_-33del	IGF1R, IRAIN	Deletion (5 prime UTR variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GBenign/Likely benign
Select item 317439	NM_000875.5(IGF1R):c.94+14C>T	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 317438	NM_000875.5(IGF1R):c.-43T>C	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 281529	NM_000875.5(IGF1R):c.1102+6T>C	IGF1R, LOC126862245	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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Links from Gene

Items: 62