IGF1R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 148277	GRCh38/hg38 15q26.2-26.3(chr15:97783828-100780256)x3	ADAMTS17, ARRDC4 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155317	GRCh38/hg38 15q26.3(chr15:98068625-99258729)x3	IGF1R, IRAIN +48 more	Copy number gain	See cases	GUncertain significance
Select item 146062	GRCh38/hg38 15q26.3(chr15:98236665-98976591)x3	IGF1R, IRAIN +24 more	Copy number gain	See cases	GUncertain significance
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
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 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 +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 1683267	NM_000875.5(IGF1R):c.-4A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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 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 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 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 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 2875102	NM_000875.5(IGF1R):c.45del (p.Leu16fs)	IGF1R, IRAIN (L16fs)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
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 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 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 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 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 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 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 3373358	NM_000875.5(IGF1R):c.74T>G (p.Leu25Arg)	IGF1R, IRAIN (L25R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 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 501270	NM_000875.5(IGF1R):c.84G>A (p.Thr28=)	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 739870	NM_000875.5(IGF1R):c.94+7A>G	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 317439	NM_000875.5(IGF1R):c.94+14C>T	IGF1R, IRAIN	Single nucleotide variant (non-coding transcript variant +1 more)	Growth delay due to insulin-like growth factor I resistance +1 more	GBenign
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 149181	GRCh38/hg38 15q26.3(chr15:98669058-98873604)x3	IGF1R, LOC110121464 +5 more	Copy number gain	See cases	GLikely pathogenic
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 3372592	NM_000875.5(IGF1R):c.202G>A (p.Glu68Lys)	IGF1R (E68K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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)	Growth delay due to insulin-like growth factor I resistance +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

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