ClinVar for Gene (Select 3480) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3235256	NM_000875.5(IGF1R):c.3614T>A (p.Ile1205Asn)	IGF1R (I1204N +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GLikely pathogenic
Select item 3108528	NM_000875.5(IGF1R):c.3692T>C (p.Leu1231Pro)	IGF1R (L1231P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108527	NM_000875.5(IGF1R):c.3554A>T (p.Lys1185Met)	IGF1R (K1185M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108525	NM_000875.5(IGF1R):c.2634A>C (p.Glu878Asp)	IGF1R (E878D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108524	NM_000875.5(IGF1R):c.2380C>T (p.Arg794Trp)	IGF1R (R794W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108523	NM_000875.5(IGF1R):c.1954C>A (p.Pro652Thr)	IGF1R (P652T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108521	NM_000875.5(IGF1R):c.1118A>C (p.Glu373Ala)	IGF1R (E98A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068907	NM_000875.5(IGF1R):c.1829-6C>T	IGF1R	Single nucleotide variant (intron variant)	not specified	GUncertain significance
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 3063393	GRCh37/hg19 15q26.3(chr15:99477386-100023041)x3	IGF1R, LRRC28 +3 more	Copy number gain	not specified	GPathogenic
Select item 3063384	GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3	ADAMTS17, ALDH1A3 +23 more	Copy number gain	not specified	GPathogenic
Select item 3063383	GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1	ADAMTS17, ALDH1A3 +16 more	Copy number loss	not specified	GPathogenic
Select item 3063364	GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not specified	GPathogenic
Select item 3058621	NM_000875.5(IGF1R):c.1242A>G (p.Leu414=)	IGF1R (R140G)	Single nucleotide variant (synonymous variant +1 more)	IGF1R-related disorder	GLikely benign
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 3046723	NM_000875.5(IGF1R):c.831G>A (p.Val277=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
Select item 3042851	NM_000875.5(IGF1R):c.2092C>T (p.Pro698Ser)	IGF1R (P698S)	Single nucleotide variant (missense variant)	IGF1R-related disorder	GUncertain significance
Select item 3042659	NM_000875.5(IGF1R):c.2019T>C (p.Tyr673=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
Select item 3038826	NM_000875.5(IGF1R):c.1446C>T (p.Asn482=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
Select item 3036908	NM_000875.5(IGF1R):c.2856G>A (p.Val952=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
Select item 3031267	NM_000875.5(IGF1R):c.2425_2426dup	IGF1R	Duplication (3 prime UTR variant)	IGF1R-related disorder	GLikely benign
Select item 3029039	NM_000875.5(IGF1R):c.2424_2427del	IGF1R	Deletion (3 prime UTR variant)	IGF1R-related disorder	GLikely benign
Select item 3027035	NM_000875.5(IGF1R):c.3733A>C (p.Met1245Leu)	IGF1R (M1244L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026870	NM_000875.5(IGF1R):c.2792A>G (p.Glu931Gly)	IGF1R (E930G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3022493	NM_000875.5(IGF1R):c.3702A>G (p.Pro1234=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021730	NM_000875.5(IGF1R):c.3777C>T (p.Phe1259=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016978	NM_000875.5(IGF1R):c.953+8G>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015477	NM_000875.5(IGF1R):c.2961C>T (p.Tyr987=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010120	NM_000875.5(IGF1R):c.1964G>T (p.Gly655Val)	IGF1R (G655V)	Single nucleotide variant (missense variant)	not provided	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 3007467	NM_000875.5(IGF1R):c.3684C>T (p.Gly1228=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007169	NM_000875.5(IGF1R):c.330A>G (p.Lys110=)	IGF1R	Single nucleotide variant (synonymous variant)	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 3004718	NM_000875.5(IGF1R):c.3115G>A (p.Ala1039Thr)	IGF1R (A1038T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003044	NM_000875.5(IGF1R):c.3297+20G>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002842	NM_000875.5(IGF1R):c.4010G>T (p.Arg1337Leu)	IGF1R (R1336L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001700	NM_000875.5(IGF1R):c.2844G>C (p.Val948=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998408	NM_000875.5(IGF1R):c.3033G>T (p.Gly1011=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996620	NM_000875.5(IGF1R):c.3302A>C (p.Asn1101Thr)	IGF1R (N1100T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996596	NM_000875.5(IGF1R):c.1997-14T>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2995314	NM_000875.5(IGF1R):c.1921C>T (p.Leu641=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994126	NM_000875.5(IGF1R):c.2392T>C (p.Leu798=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994095	NM_000875.5(IGF1R):c.4012G>C (p.Ala1338Pro)	IGF1R (A1337P +1 more)	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 2992968	NM_000875.5(IGF1R):c.1734C>T (p.Ala578=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992821	NM_000875.5(IGF1R):c.3588-15T>C	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989415	NM_000875.5(IGF1R):c.3241C>T (p.Leu1081=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989057	NM_000875.5(IGF1R):c.1329A>T (p.Ala443=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987983	NM_000875.5(IGF1R):c.641-14CT[3]	IGF1R	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2985478	NM_000875.5(IGF1R):c.1171C>T (p.Arg391Cys)	IGF1R (P116L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985268	NM_000875.5(IGF1R):c.1487C>T (p.Thr496Ile)	IGF1R (T496I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985083	NM_000875.5(IGF1R):c.3723-18C>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2984248	NM_000875.5(IGF1R):c.3933G>A (p.Ser1311=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981943	NM_000875.5(IGF1R):c.1996+17G>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981851	NM_000875.5(IGF1R):c.3458-18C>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2980053	NM_000875.5(IGF1R):c.1670C>T (p.Pro557Leu)	IGF1R (P557L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979550	NM_000875.5(IGF1R):c.1269C>T (p.Leu423=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977900	NM_000875.5(IGF1R):c.2898G>T (p.Arg966Ser)	IGF1R (R965S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2976294	NM_000875.5(IGF1R):c.1266C>A (p.Val422=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975574	NM_000875.5(IGF1R):c.1885G>A (p.Val629Met)	IGF1R (V629M)	Single nucleotide variant (missense 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 2971086	NM_000875.5(IGF1R):c.3372A>G (p.Ala1124=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2970670	NM_000875.5(IGF1R):c.1463-16G>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970506	NM_000875.5(IGF1R):c.2827G>A (p.Ala943Thr)	IGF1R (A943T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968971	NM_000875.5(IGF1R):c.2542A>G (p.Ile848Val)	IGF1R (I848V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968365	NM_000875.5(IGF1R):c.2962G>A (p.Val988Ile)	IGF1R (V987I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963903	NM_000875.5(IGF1R):c.3363C>T (p.Asp1121=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963414	NM_000875.5(IGF1R):c.1248-17G>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961905	NM_000875.5(IGF1R):c.3735G>A (p.Met1245Ile)	IGF1R (M1245I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959436	NM_000875.5(IGF1R):c.3865G>A (p.Glu1289Lys)	IGF1R (E1288K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959379	NM_000875.5(IGF1R):c.2622+12G>C	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959025	NM_000875.5(IGF1R):c.1290A>G (p.Gln430=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958794	NM_000875.5(IGF1R):c.95-18C>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958476	NM_000875.5(IGF1R):c.640+12G>T	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958470	NM_000875.5(IGF1R):c.3943C>T (p.Pro1315Ser)	IGF1R (P1314S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958455	NM_000875.5(IGF1R):c.3723-17G>A	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958407	NM_000875.5(IGF1R):c.2265G>T (p.Arg755Ser)	IGF1R (R755S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958320	NM_000875.5(IGF1R):c.3330C>G (p.Ser1110Arg)	IGF1R (S1109R +1 more)	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 2957832	NM_000875.5(IGF1R):c.772G>A (p.Gly258Ser)	IGF1R (G258S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2955727	NM_000875.5(IGF1R):c.2391A>G (p.Thr797=)	IGF1R	Single nucleotide variant (synonymous variant)	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 2955616	NM_000875.5(IGF1R):c.2202-18T>C	IGF1R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955313	NM_000875.5(IGF1R):c.784C>T (p.Pro262Ser)	IGF1R (P262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955194	NM_000875.5(IGF1R):c.99C>T (p.Cys33=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955102	NM_000875.5(IGF1R):c.3342G>T (p.Gln1114His)	IGF1R (Q1113H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918374	NM_000875.5(IGF1R):c.606C>T (p.Asn202=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910838	NM_000875.5(IGF1R):c.4023C>T (p.Asp1341=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909398	NM_000875.5(IGF1R):c.1913A>G (p.Asn638Ser)	IGF1R (N638S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908408	NM_000875.5(IGF1R):c.2622+8T>G	IGF1R	Single nucleotide variant (intron variant)	not provided	GLikely benign

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