C1849157[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 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 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 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 281171	NM_000875.5(IGF1R):c.225C>T (p.Phe75=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 714601	NM_000875.5(IGF1R):c.402G>A (p.Arg134=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GBenign
Select item 884697	NM_000875.5(IGF1R):c.457T>A (p.Ser153Thr)	IGF1R (S153T)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 884698	NM_000875.5(IGF1R):c.537G>A (p.Gly179=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195101	NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)	IGF1R (P190S)	Single nucleotide variant (missense variant)	IGF1R-related condition +2 more	GConflicting classifications of pathogenicity
Select item 885638	NM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)	IGF1R (N202S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317440	NM_000875.5(IGF1R):c.641-14C>T	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712844	NM_000875.5(IGF1R):c.846C>T (p.Cys282=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related condition +2 more	GBenign
Select item 317441	NM_000875.5(IGF1R):c.864C>T (p.Ala288=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GBenign
Select item 497693	NM_000875.5(IGF1R):c.885G>T (p.Gly295=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317442	NM_000875.5(IGF1R):c.885G>A (p.Gly295=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 317443	NM_000875.5(IGF1R):c.895C>T (p.His299Tyr)	IGF1R (H299Y)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317444	NM_000875.5(IGF1R):c.903C>A (p.Gly301=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GBenign
Select item 886653	NM_000875.5(IGF1R):c.1161C>T (p.Tyr387=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 708118	NM_000875.5(IGF1R):c.1194C>T (p.Ser398=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 716705	NM_000875.5(IGF1R):c.1247+3A>G	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 317445	NM_000875.5(IGF1R):c.1247+10C>T	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 198108	NM_000875.5(IGF1R):c.1310G>A (p.Arg437His)	IGF1R (R437H)	Single nucleotide variant (missense variant)	IGF1R-related condition +3 more	GBenign/Likely benign
Select item 282332	NM_000875.5(IGF1R):c.1336A>G (p.Met446Val)	IGF1R (M446V)	Single nucleotide variant (missense variant)	IGF1R-related condition +3 more	GConflicting classifications of pathogenicity
Select item 886654	NM_000875.5(IGF1R):c.1462+13A>G	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317446	NM_000875.5(IGF1R):c.1462+15C>G	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317447	NM_000875.5(IGF1R):c.1463-5C>A	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GBenign/Likely benign
Select item 317448	NM_000875.5(IGF1R):c.1499C>T (p.Thr500Met)	IGF1R (T500M)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 596864	NM_000875.5(IGF1R):c.1500G>A (p.Thr500=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 792337	NM_000875.5(IGF1R):c.1503G>A (p.Ser501=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 14794	NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)	IGF1R (R511Q)	Single nucleotide variant (missense variant)	not specified +2 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 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 884757	NM_000875.5(IGF1R):c.1679A>G (p.Lys560Arg)	IGF1R (K560R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 317449	NM_000875.5(IGF1R):c.1686G>A (p.Val562=)	IGF1R	Single nucleotide variant (synonymous variant)	IGF1R-related condition +2 more	GBenign
Select item 284570	NM_000875.5(IGF1R):c.1784G>A (p.Arg595His)	IGF1R (R595H)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GConflicting classifications of pathogenicity
Select item 317450	NM_000875.5(IGF1R):c.1828+11C>T	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317451	NM_000875.5(IGF1R):c.1868C>G (p.Ser623Cys)	IGF1R (S623C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 199042	NM_000875.5(IGF1R):c.1914C>T (p.Asn638=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 282215	NM_000875.5(IGF1R):c.1950G>T (p.Arg650=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 884758	NM_000875.5(IGF1R):c.1976G>A (p.Arg659Gln)	IGF1R (R659Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 885701	NM_000875.5(IGF1R):c.1997-8C>A	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317452	NM_000875.5(IGF1R):c.2023G>A (p.Asp675Asn)	IGF1R (D675N)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 885702	NM_000875.5(IGF1R):c.2243C>G (p.Thr748Ser)	IGF1R (T748S)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 193818	NM_000875.5(IGF1R):c.2298C>T (p.Thr766=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 317453	NM_000875.5(IGF1R):c.2401A>G (p.Ile801Val)	IGF1R (I801V)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 885703	NM_000875.5(IGF1R):c.2460C>T (p.Phe820=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598673	NM_000875.5(IGF1R):c.2558C>T (p.Pro853Leu)	IGF1R (P853L)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GLikely benign
Select item 284292	NM_000875.5(IGF1R):c.2570A>G (p.Asn857Ser)	IGF1R (N857S)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +2 more	GBenign/Likely benign
Select item 194185	NM_000875.5(IGF1R):c.2700C>T (p.Asn900=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 317454	NM_000875.5(IGF1R):c.2745G>A (p.Ser915=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317455	NM_000875.5(IGF1R):c.2868C>T (p.Tyr956=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 886710	NM_000875.5(IGF1R):c.2885+15A>G	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 731844	NM_000875.5(IGF1R):c.2894G>A (p.Ser965Asn)	IGF1R (S965N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886711	NM_000875.5(IGF1R):c.2956+9C>G	IGF1R	Single nucleotide variant (intron variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317456	NM_000875.5(IGF1R):c.2989G>A (p.Glu997Lys)	IGF1R (E997K +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 736058	NM_000875.5(IGF1R):c.3108C>T (p.Asn1036=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194610	NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=)	IGF1R	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 501967	NM_000875.5(IGF1R):c.3187-5C>T	IGF1R	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 782604	NM_000875.5(IGF1R):c.3298-9C>G	IGF1R	Single nucleotide variant (intron variant)	IGF1R-related condition +2 more	GBenign
Select item 317457	NM_000875.5(IGF1R):c.3314C>T (p.Ala1105Val)	IGF1R (A1104V +1 more)	Single nucleotide variant (missense 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 738332	NM_000875.5(IGF1R):c.3582C>T (p.Asp1194=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 317458	NM_000875.5(IGF1R):c.3594C>T (p.Phe1198=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884822	NM_000875.5(IGF1R):c.3654C>T (p.Asn1218=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884823	NM_000875.5(IGF1R):c.3672C>T (p.Phe1224=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 732801	NM_000875.5(IGF1R):c.3723-4G>A	IGF1R	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 884824	NM_000875.5(IGF1R):c.3763A>T (p.Met1255Leu)	IGF1R (M1254L +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 884825	NM_000875.5(IGF1R):c.3845G>A (p.Ser1282Asn)	IGF1R (S1281N +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 884826	NM_000875.5(IGF1R):c.3852G>T (p.Glu1284Asp)	IGF1R (E1283D +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GUncertain significance
Select item 884827	NM_000875.5(IGF1R):c.3869C>T (p.Pro1290Leu)	IGF1R (P1290L +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 884828	NM_000875.5(IGF1R):c.3906C>T (p.Ser1302=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317459	NM_000875.5(IGF1R):c.3925G>A (p.Ala1309Thr)	IGF1R (A1308T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 317460	NM_000875.5(IGF1R):c.3950C>G (p.Pro1317Arg)	IGF1R (P1316R +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 755020	NM_000875.5(IGF1R):c.3975C>T (p.Ala1325=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 885756	NM_000875.5(IGF1R):c.3982G>A (p.Gly1328Ser)	IGF1R (G1327S +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GConflicting classifications of pathogenicity
Select item 195568	NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys)	IGF1R (R1337C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317461	NM_000875.5(IGF1R):c.4028G>T (p.Arg1343Ile)	IGF1R (R1343I +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 287436	NM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=)	IGF1R	Single nucleotide variant (synonymous variant)	Growth delay due to insulin-like growth factor I resistance +3 more	GBenign
Select item 317462	NM_000875.5(IGF1R):c.4045A>G (p.Met1349Val)	IGF1R (M1348V +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 195570	NM_000875.5(IGF1R):c.4058G>A (p.Arg1353His)	IGF1R (R1353H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 730100	NM_000875.5(IGF1R):c.4065C>T (p.Asn1355=)	IGF1R	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 317463	NM_000875.5(IGF1R):c.4069C>T (p.Arg1357Trp)	IGF1R (R1356W +1 more)	Single nucleotide variant (missense variant)	Growth delay due to insulin-like growth factor I resistance +1 more	GUncertain significance
Select item 317464	NM_000875.5(IGF1R):c.*15A>G	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 886759	NM_000875.5(IGF1R):c.*42C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317465	NM_000875.5(IGF1R):c.*43G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign
Select item 886760	NM_000875.5(IGF1R):c.*44C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317466	NM_000875.5(IGF1R):c.*49C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317467	NM_000875.5(IGF1R):c.*54dup	IGF1R	Duplication (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317468	NM_000875.5(IGF1R):c.*62dup	IGF1R	Duplication (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
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 317469	NM_000875.5(IGF1R):c.*55G>A	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317470	NM_000875.5(IGF1R):c.*57G>C	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GUncertain significance
Select item 317471	NM_000875.5(IGF1R):c.*63AG[3]	IGF1R	Microsatellite (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 317472	NM_000875.5(IGF1R):c.*134C>T	IGF1R	Single nucleotide variant (3 prime UTR variant)	Growth delay due to insulin-like growth factor I resistance	GLikely benign

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