ClinVar for MedGen (Select 82708) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342292	NM_000208.4(INSR):c.3498G>C (p.Met1166Ile)	INSR (M1154I +1 more)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 2627891	NM_000208.4(INSR):c.2810C>T (p.Thr937Met)	INSR (T925M +1 more)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 2627890	NM_000208.4(INSR):c.1610+1G>A	INSR	Single nucleotide variant (splice donor variant)	Leprechaunism syndrome	GLikely pathogenic
Select item 1049578	NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)	INSR (E517G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 916551	NM_000208.4(INSR):c.632C>T (p.Thr211Ile)	INSR (T211I)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GPathogenic
Select item 894751	NM_000208.4(INSR):c.*87C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894717	NM_000208.4(INSR):c.*302A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894716	NM_000208.4(INSR):c.*334C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 894698	NM_000208.4(INSR):c.*1001A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894697	NM_000208.4(INSR):c.*1045C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894644	NM_000208.4(INSR):c.*1909A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894620	NM_000208.4(INSR):c.*2322G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 894593	NM_000208.4(INSR):c.*2752C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894562	NM_000208.4(INSR):c.*3101C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894527	NM_000208.4(INSR):c.-62C>T	INSR	Single nucleotide variant (5 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894526	NM_000208.4(INSR):c.*3786G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GBenign
Select item 894525	NM_000208.4(INSR):c.*3855C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894489	NM_000208.4(INSR):c.345C>T (p.Phe115=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894488	NM_000208.4(INSR):c.474C>T (p.Ile158=)	INSR	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 894487	NM_000208.4(INSR):c.*4376G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894351	NM_000208.4(INSR):c.2522G>A (p.Ser841Asn)	INSR (S829N +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894312	NM_000208.4(INSR):c.2682+7C>T	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894288	NM_000208.4(INSR):c.2848G>A (p.Val950Ile)	INSR (V950I +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894248	NM_000208.4(INSR):c.*1917G>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 894216	NM_000208.4(INSR):c.*2475A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894132	NM_000208.4(INSR):c.*3858G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894095	NM_000208.4(INSR):c.*4380G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894054	NM_000208.4(INSR):c.1056G>A (p.Thr352=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 894017	NM_000208.4(INSR):c.1866C>T (p.Pro622=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893980	NM_000208.4(INSR):c.2276G>A (p.Arg759Gln)	INSR (R759Q +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893925	NM_000208.4(INSR):c.2698G>A (p.Val900Ile)	INSR (V900I +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +3 more	GUncertain significance
Select item 893894	NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)	INSR (C1008S +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893864	NM_000208.4(INSR):c.3501C>T (p.Val1167=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893832	NM_000208.4(INSR):c.*97A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893810	NM_000208.4(INSR):c.*356G>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893809	NM_000208.4(INSR):c.*442G>T	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893808	NM_000208.4(INSR):c.*499G>T	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 893774	NM_000208.4(INSR):c.*1067G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893749	NM_000208.4(INSR):c.*1573C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893748	NM_000208.4(INSR):c.*1574G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893676	NM_000208.4(INSR):c.2543-13C>T	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893639	NM_000208.4(INSR):c.2739G>T (p.Leu913=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893573	NM_000208.4(INSR):c.3844A>G (p.Thr1282Ala)	INSR (T1270A +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893532	NM_000208.4(INSR):c.*130A>T	INSR	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GLikely benign
Select item 893531	NM_000208.4(INSR):c.*214G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893504	NM_000208.4(INSR):c.*743A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893473	NM_000208.4(INSR):c.*1137A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893440	NM_000208.4(INSR):c.*1584C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 893439	NM_000208.4(INSR):c.*1591C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 893410	NM_000208.4(INSR):c.*2023A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893409	NM_000208.4(INSR):c.*2102T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893272	NM_000208.4(INSR):c.221G>A (p.Arg74Gln)	INSR (R74Q)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893241	NM_000208.4(INSR):c.*4696T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893170	NM_000208.4(INSR):c.1988C>T (p.Ala663Val)	INSR (A663V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 893141	NM_000208.4(INSR):c.*3013C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893140	NM_000208.4(INSR):c.*3019C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893064	NM_000208.4(INSR):c.261C>T (p.Tyr87=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 893023	NM_000208.4(INSR):c.783C>G (p.Asp261Glu)	INSR (D261E)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 893022	NM_000208.4(INSR):c.*4712T>C	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892977	NM_000208.4(INSR):c.1305A>G (p.Leu435=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892937	NM_000208.4(INSR):c.2121C>T (p.Gly707=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +3 more	GUncertain significance
Select item 892904	NM_000208.4(INSR):c.2380G>A (p.Glu794Lys)	INSR (E782K +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892864	NM_000208.4(INSR):c.2596G>A (p.Val866Ile)	INSR (V854I +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892863	NM_000208.4(INSR):c.2602C>T (p.His868Tyr)	INSR (H856Y +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892834	NM_000208.4(INSR):c.2829C>T (p.Tyr943=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +4 more	GConflicting classifications of pathogenicity
Select item 892767	NM_000208.4(INSR):c.4133G>C (p.Arg1378Pro)	INSR (R1366P +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892766	NM_000208.4(INSR):c.4139A>G (p.Asn1380Ser)	INSR (N1368S +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892737	NM_000208.4(INSR):c.*241G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892709	NM_000208.4(INSR):c.*959A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892670	NM_000208.4(INSR):c.*1190A>G	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 892637	NM_000208.4(INSR):c.*1831C>A	INSR	Single nucleotide variant (3 prime UTR variant)	Rabson-Mendenhall syndrome +2 more	GUncertain significance
Select item 892636	NM_000208.4(INSR):c.*1831C>T	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 892570	NM_000208.4(INSR):c.*2568G>A	INSR	Single nucleotide variant (3 prime UTR variant)	Leprechaunism syndrome +2 more	GUncertain significance
Select item 892569	NM_000208.4(INSR):c.*2752C>G	INSR	Single nucleotide variant (3 prime UTR variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +2 more	GUncertain significance
Select item 796295	NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)	INSR (P755S)	Single nucleotide variant (missense variant +1 more)	Rabson-Mendenhall syndrome +4 more	GConflicting classifications of pathogenicity
Select item 783815	NM_000208.4(INSR):c.653-7del	INSR	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 780507	NM_000208.4(INSR):c.1989G>A (p.Ala663=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +4 more	GBenign/Likely benign
Select item 750075	NM_000208.4(INSR):c.489C>A (p.Ile163=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 743458	NM_000208.4(INSR):c.575G>A (p.Gly192Asp)	INSR (G192D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 742862	NM_000208.4(INSR):c.624A>G (p.Arg208=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 739582	NM_000208.4(INSR):c.2793G>A (p.Ala931=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +5 more	GConflicting classifications of pathogenicity
Select item 728985	NM_000208.4(INSR):c.2683-5C>T	INSR	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 631539	NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)	INSR (G1048D +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GUncertain significance
Select item 631537	NM_000208.4(INSR):c.921CAA[2] (p.Asn309del)	INSR (N309del)	Microsatellite (inframe_deletion)	Leprechaunism syndrome	GUncertain significance
Select item 594684	NM_000208.4(INSR):c.653-9_653-7delinsC	INSR	Indel (intron variant)	Rabson-Mendenhall syndrome +4 more	GBenign/Likely benign
Select item 593363	NM_000208.4(INSR):c.1810C>T (p.Arg604Trp)	INSR (R604W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 592488	NM_000208.4(INSR):c.653-9T>C	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 549552	NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)	INSR (R796S +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +6 more	GConflicting classifications of pathogenicity
Select item 504475	NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs)	INSR (S1001fs +1 more)	Indel (frameshift variant)	Leprechaunism syndrome	Gnot provided
Select item 504474	NM_000208.4(INSR):c.167T>C (p.Ile56Thr)	INSR (I56T)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	Gnot provided
Select item 502299	NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)	INSR (R833Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance/Uncertain risk allele
Select item 439832	NM_000208.4(INSR):c.1861+27C>T	INSR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 439831	NM_000208.4(INSR):c.1610+28A>C	INSR	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 439830	NM_000208.4(INSR):c.1483+31T>C	INSR	Single nucleotide variant (intron variant)	Rabson-Mendenhall syndrome +2 more	GBenign
Select item 435518	NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)	INSR (A706D)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 435517	NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)	INSR (D1259N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance/Uncertain risk allele
Select item 435516	NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)	INSR (I1137T +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GUncertain significance
Select item 435514	NM_000208.4(INSR):c.225C>T (p.Asp75=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +5 more	GConflicting classifications of pathogenicity
Select item 435511	NM_000208.4(INSR):c.870C>T (p.His290=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GBenign/Likely benign
Select item 377381	NG_008852.1:g.[135909G>T;8170_32961del24792]	INSR (V657F)	Deletion (missense variant)	Leprechaunism syndrome	GPathogenic

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