"GeneDx"[submitter] AND "INSR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 330433	NM_000208.4(INSR):c.*288del	INSR	Deletion (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GBenign
Select item 330436	NM_000208.4(INSR):c.*104A>G	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 1302338	NM_000208.4(INSR):c.3955A>T (p.Met1319Leu)	INSR (M1307L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264228	NM_000208.4(INSR):c.3795-66G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273387	NM_000208.4(INSR):c.3795-85C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3372379	NM_000208.4(INSR):c.3689_3691del (p.Thr1230del)	INSR (T1218del +1 more)	Deletion	not provided	GUncertain significance
Select item 1257102	NM_000208.4(INSR):c.3660-56GT[8]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1179589	NM_000208.4(INSR):c.3660-57C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266442	NM_000208.4(INSR):c.3660-59C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227270	NM_000208.4(INSR):c.3660-64G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273481	NM_000208.4(INSR):c.3660-182GT[2]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1249433	NM_000208.4(INSR):c.3660-182_3660-181insCGTGTT	INSR	Insertion (intron variant)	not provided	GBenign
Select item 1262384	NM_000208.4(INSR):c.3660-190_3660-189insTGTGTGTT	INSR	Insertion (intron variant)	not provided	GBenign
Select item 1229976	NM_000208.4(INSR):c.3660-189C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289018	NM_000208.4(INSR):c.3660-246_3660-241del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1249173	NM_000208.4(INSR):c.3660-270GT[3]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1258986	NM_000208.4(INSR):c.3660-279TG[3]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1228103	NM_000208.4(INSR):c.3659+251T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181917	NM_000208.4(INSR):c.3530-306A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244844	NM_000208.4(INSR):c.3529+303G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245007	NM_000208.4(INSR):c.3529+236C>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282724	NM_000208.4(INSR):c.3529+129del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1286510	NM_000208.4(INSR):c.3529+113del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1289146	NM_000208.4(INSR):c.3259-192A>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225720	NM_000208.4(INSR):c.3259-304G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283211	NM_000208.4(INSR):c.3258+308G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 194701	NM_000208.4(INSR):c.3255C>T (p.His1085=)	INSR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 812074	NM_000208.4(INSR):c.3164C>T (p.Ala1055Val)	INSR (A1043V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2663319	NM_000208.4(INSR):c.3094G>A (p.Gly1032Ser)	INSR (G1020S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393182	NM_000208.4(INSR):c.3071C>T (p.Thr1024Ile)	INSR (T1024I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699524	NM_000208.4(INSR):c.3052G>T (p.Val1018Leu)	INSR (V1006L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1244406	NM_000208.4(INSR):c.3013+271A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273063	NM_000208.4(INSR):c.2946-228del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1287725	NM_000208.4(INSR):c.2945+218dup	INSR	Duplication (intron variant)	not provided	GBenign
Select item 503898	NM_000208.4(INSR):c.2929_2932del (p.Leu977fs)	INSR (L977fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1272756	NM_000208.4(INSR):c.2843-99C>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262337	NM_000208.4(INSR):c.2843-121T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271695	NM_000208.4(INSR):c.2842+171_2842+172del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1282339	NM_000208.4(INSR):c.2842+88G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283948	NM_000208.4(INSR):c.2683-242A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233519	NM_000208.4(INSR):c.2683-243C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283270	NM_000208.4(INSR):c.2683-302A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283210	NM_000208.4(INSR):c.2683-309del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1236740	NM_000208.4(INSR):c.2682+183C>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 282255	NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)	INSR (R889W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 330454	NM_000208.4(INSR):c.2595C>T (p.Asn865=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +3 more	GBenign
Select item 1273551	NM_000208.4(INSR):c.2542+129G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2229488	NM_000208.4(INSR):c.2456G>A (p.Arg819His)	INSR (R819H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 418737	NM_000208.4(INSR):c.2275C>T (p.Arg759Trp)	INSR (R759W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1269540	NM_000208.4(INSR):c.2268-51dup	INSR	Duplication (intron variant)	not provided	GBenign
Select item 1246658	NM_000208.4(INSR):c.2267+90G>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 211190	NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)	INSR (S748L)	Single nucleotide variant (missense variant +1 more)	Rabson-Mendenhall syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1269775	NM_000208.4(INSR):c.2231+34G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439837	NM_000208.4(INSR):c.2231+20C>A	INSR	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1262067	NM_000208.4(INSR):c.2030-68T>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235820	NM_000208.4(INSR):c.2030-73T>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238998	NM_000208.4(INSR):c.2030-88T>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262998	NM_000208.4(INSR):c.2030-107_2030-106insGTATGTGTG	INSR	Insertion (intron variant)	not provided	GBenign
Select item 1235211	NM_000208.4(INSR):c.2030-121_2030-106del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1274889	NM_000208.4(INSR):c.2030-138TG[5]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1232842	NM_000208.4(INSR):c.2030-128del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1263635	NM_000208.4(INSR):c.2030-175GT[2]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1278641	NM_000208.4(INSR):c.2030-206T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283781	NM_000208.4(INSR):c.2030-269TG[6]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 1271380	NM_000208.4(INSR):c.2029+254A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269548	NM_000208.4(INSR):c.2029+115AC[6]	INSR	Microsatellite (intron variant)	not provided	GBenign
Select item 330467	NM_000208.4(INSR):c.1932A>C (p.Pro644=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 330468	NM_000208.4(INSR):c.1918C>T (p.Leu640=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +3 more	GBenign
Select item 330469	NM_000208.4(INSR):c.1862-4A>G	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +3 more	GBenign
Select item 439839	NM_000208.4(INSR):c.1862-20A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233030	NM_000208.4(INSR):c.1862-116A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253555	NM_000208.4(INSR):c.1861+287del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1237957	NM_000208.4(INSR):c.1861+286_1861+287del	INSR	Deletion (intron variant)	not provided	GBenign
Select item 1263395	NM_000208.4(INSR):c.1861+159A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280208	NM_000208.4(INSR):c.1861+151A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222290	NM_000208.4(INSR):c.1861+129G>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273016	NM_000208.4(INSR):c.1861+107dup	INSR	Duplication (intron variant)	not provided	GBenign
Select item 1253612	NM_000208.4(INSR):c.1861+56T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439832	NM_000208.4(INSR):c.1861+27C>T	INSR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 198697	NM_000208.4(INSR):c.1650G>A (p.Ala550=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +4 more	GBenign
Select item 330470	NM_000208.4(INSR):c.1638C>T (p.Asp546=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +4 more	GBenign
Select item 1231520	NM_000208.4(INSR):c.1611-126T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265573	NM_000208.4(INSR):c.1611-282C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289778	NM_000208.4(INSR):c.1610+264T>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241052	NM_000208.4(INSR):c.1610+162G>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439831	NM_000208.4(INSR):c.1610+28A>C	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 439836	NM_000208.4(INSR):c.1610+23C>T	INSR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 816941	NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)	INSR (R525*)	Single nucleotide variant (nonsense)	Hyperinsulinism due to INSR deficiency +1 more	GLikely pathogenic
Select item 2506616	NM_000208.4(INSR):c.1549G>A (p.Glu517Lys)	INSR (E517K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257403	NM_000208.4(INSR):c.1484-108G>C	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226667	NM_000208.4(INSR):c.1484-108G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243615	NM_000208.4(INSR):c.1483+171G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296548	NM_000208.4(INSR):c.1483+43G>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439830	NM_000208.4(INSR):c.1483+31T>C	INSR	Single nucleotide variant (intron variant)	Leprechaunism syndrome +2 more	GBenign
Select item 14695	NM_000208.4(INSR):c.1466A>G (p.Asn489Ser)	INSR (N489S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1295103	NM_000208.4(INSR):c.1269-99C>T	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236301	NM_000208.4(INSR):c.1269-231A>G	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247544	NM_000208.4(INSR):c.1268+92G>A	INSR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14701	NM_000208.4(INSR):c.1195C>T (p.Arg399Ter)	INSR (R399*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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