ClinVar for Gene (Select 3480) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373541	NM_000875.5(IGF1R):c.1609G>C (p.Glu537Gln)	IGF1R (E537Q)	Single nucleotide variant (missense variant)	not provided	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 3373169	NM_000875.5(IGF1R):c.3598G>T (p.Val1200Phe)	IGF1R (V1199F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373013	NM_000875.5(IGF1R):c.1138C>T (p.Leu380Phe)	IGF1R (L380F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3372072	NM_000875.5(IGF1R):c.959A>G (p.Tyr320Cys)	IGF1R, LOC126862245 (Y320C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371475	NM_000875.5(IGF1R):c.921C>A (p.Cys307Ter)	IGF1R (C307*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3371420	NM_000875.5(IGF1R):c.3457+1G>A	IGF1R	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3371387	NM_000875.5(IGF1R):c.3601G>T (p.Val1201Phe)	IGF1R (V1200F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371222	NM_000875.5(IGF1R):c.829G>A (p.Val277Met)	IGF1R (V277M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370803	NM_000875.5(IGF1R):c.3440T>G (p.Phe1147Cys)	IGF1R (F1146C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370016	NM_000875.5(IGF1R):c.3041A>C (p.Tyr1014Ser)	IGF1R (Y1013S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369245	NM_000875.5(IGF1R):c.3109G>A (p.Glu1037Lys)	IGF1R (E1036K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368789	NM_000875.5(IGF1R):c.2912T>A (p.Val971Glu)	IGF1R (V970E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368282	NM_000875.5(IGF1R):c.957G>A (p.Met319Ile)	IGF1R, LOC126862245 (M319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366629	NM_000875.5(IGF1R):c.3788T>G (p.Ile1263Ser)	IGF1R (I1262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366330	NM_000875.5(IGF1R):c.3464G>C (p.Gly1155Ala)	IGF1R (G1154A +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
Select item 3364651	NM_000875.5(IGF1R):c.668C>A (p.Ala223Glu)	IGF1R (A223E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359553	NM_000875.5(IGF1R):c.385G>A (p.Gly129Arg)	IGF1R (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359057	NM_000875.5(IGF1R):c.100G>A (p.Gly34Arg)	IGF1R (G34R)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3358149	NM_000875.5(IGF1R):c.3060T>C (p.Gly1020=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related disorder	GLikely benign
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 3346204	NM_000875.5(IGF1R):c.923C>T (p.Pro308Leu)	IGF1R (P308L)	Single nucleotide variant (missense variant)	IGF1R-related disorder	GUncertain significance
Select item 3343886	NM_000875.5(IGF1R):c.1589+1G>A	IGF1R	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3343423	NM_000875.5(IGF1R):c.1290A>C (p.Gln430His)	IGF1R (Q430H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342289	NM_000875.5(IGF1R):c.986C>G (p.Pro329Arg)	IGF1R, LOC126862245 (P329R)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 3341951	NM_000875.5(IGF1R):c.3251G>A (p.Arg1084Gln)	IGF1R (R1083Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341692	NM_000875.5(IGF1R):c.1632C>T (p.Cys544=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3340551	NM_000875.5(IGF1R):c.4006C>G (p.Leu1336Val)	IGF1R (L1335V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337178	NM_000875.5(IGF1R):c.3458A>G (p.Asp1153Gly)	IGF1R (D1152G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337177	NM_000875.5(IGF1R):c.823C>T (p.Arg275Cys)	IGF1R (R275C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3285493	NM_000875.5(IGF1R):c.2632G>A (p.Glu878Lys)	IGF1R (E878K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285492	NM_000875.5(IGF1R):c.3923C>G (p.Ser1308Trp)	IGF1R (S1307W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285491	NM_000875.5(IGF1R):c.2830G>A (p.Val944Ile)	IGF1R (V944I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3285490	NM_000875.5(IGF1R):c.2243C>A (p.Thr748Asn)	IGF1R (T748N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3285489	NM_000875.5(IGF1R):c.4057C>T (p.Arg1353Cys)	IGF1R (R1352C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3258000	NM_000875.5(IGF1R):c.928G>A (p.Gly310Ser)	IGF1R (G310S)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3257683	NM_000875.5(IGF1R):c.3969C>G (p.His1323Gln)	IGF1R (H1322Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3252668	NM_000875.5(IGF1R):c.3814_3828del (p.Pro1272_Glu1276del)	IGF1R	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3252570	NM_000875.5(IGF1R):c.2242A>G (p.Thr748Ala)	IGF1R (T748A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252222	NM_000875.5(IGF1R):c.3737G>A (p.Arg1246His)	IGF1R (R1245H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3243864	NC_000015.9:g.(?_99192811)_(99434886_?)dup	IGF1R	Duplication	not provided	GUncertain significance
Select item 3243863	NC_000015.9:g.(?_99500270)_(99505828_?)dup	IGF1R	Duplication	not provided	GUncertain significance
Select item 3243862	NC_000015.9:g.(?_99491783)_(99505828_?)del	IGF1R	Deletion	not provided	GUncertain significance
Select item 3243861	NC_000015.9:g.(?_99192811)_(99505828_?)del	IGF1R	Deletion	not provided	GPathogenic
Select item 3242325	GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1	ADAMTS17, ALDH1A3 +19 more	Copy number loss	not provided	GPathogenic
Select item 3237340	NM_000875.5(IGF1R):c.2477_2480dup (p.Glu829fs)	IGF1R (E829fs)	Duplication (frameshift variant)	Growth delay due to insulin-like growth factor I resistance	GPathogenic
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 (E373A)	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	Single nucleotide variant (synonymous variant)	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

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