ClinVar for Gene (Select 3643) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368263	NM_000208.4(INSR):c.528A>C (p.Lys176Asn)	INSR (K176N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355022	NM_000208.4(INSR):c.3173C>T (p.Thr1058Met)	INSR (T1046M +1 more)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 3354902	NM_000208.4(INSR):c.3802C>G (p.Leu1268Val)	INSR (L1256V +1 more)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 3353042	NM_000208.4(INSR):c.1428G>A (p.Lys476=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3351735	NM_000208.4(INSR):c.553A>G (p.Ile185Val)	INSR (I185V)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 3346459	NM_000208.4(INSR):c.1926G>A (p.Trp642Ter)	INSR (W642*)	Single nucleotide variant (nonsense)	INSR-related disorder	GLikely pathogenic
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 3341644	NM_000208.4(INSR):c.3055T>C (p.Ser1019Pro)	INSR (S1007P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341127	NM_000208.4(INSR):c.1588T>G (p.Phe530Val)	INSR (F530V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340447	NM_000208.4(INSR):c.3196C>T (p.Arg1066Ter)	INSR (R1054* +1 more)	Single nucleotide variant (nonsense)	Hyperinsulinism due to INSR deficiency	GPathogenic
Select item 3340446	NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)	INSR (A1192T +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to INSR deficiency	GLikely pathogenic
Select item 3340166	NM_000208.4(INSR):c.836G>A (p.Arg279His)	INSR (R279H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3337181	NM_000208.4(INSR):c.3530A>G (p.Asp1177Gly)	INSR (D1165G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336404	NM_000208.4(INSR):c.2364G>T (p.Val788=)	INSR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3336065	NM_000208.4(INSR):c.3868C>T (p.Leu1290Phe)	INSR (L1278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336064	NM_000208.4(INSR):c.1477G>T (p.Ala493Ser)	INSR (A493S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286167	NM_000208.4(INSR):c.3420G>A (p.Ala1140=)	INSR	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3286164	NM_000208.4(INSR):c.3880C>G (p.Leu1294Val)	INSR (L1282V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286163	NM_000208.4(INSR):c.1933C>A (p.Pro645Thr)	INSR (P645T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286162	NM_000208.4(INSR):c.2224G>A (p.Val742Ile)	INSR (V742I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286161	NM_000208.4(INSR):c.2830G>A (p.Val944Met)	INSR (V944M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3286160	NM_000208.4(INSR):c.3080G>A (p.Arg1027Gln)	INSR (R1015Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3109938	NM_000208.4(INSR):c.3885C>G (p.His1295Gln)	INSR (H1295Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109937	NM_000208.4(INSR):c.2309T>C (p.Val770Ala)	INSR (V758A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109936	NM_000208.4(INSR):c.1980G>C (p.Glu660Asp)	INSR (E660D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062399	GRCh37/hg19 19p13.2(chr19:7071297-7238772)x3	INSR, ZNF557	Copy number gain	not specified	GUncertain significance
Select item 3061041	NM_000208.4(INSR):c.1254G>C (p.Glu418Asp)	INSR (E418D)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 3054406	NM_000208.4(INSR):c.1233G>A (p.Lys411=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3039656	NM_000208.4(INSR):c.1884A>G (p.Pro628=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3033430	NM_000208.4(INSR):c.2178C>A (p.Ser726=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3031968	NM_000208.4(INSR):c.1032C>T (p.Gly344=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3029321	NM_000208.4(INSR):c.297G>T (p.Leu99=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder	GLikely benign
Select item 3029194	NM_000208.4(INSR):c.1379A>C (p.Lys460Thr)	INSR (K460T)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 3022949	NM_000208.4(INSR):c.3370-16C>G	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019648	NM_000208.4(INSR):c.1245T>A (p.Ile415=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017230	NM_000208.4(INSR):c.952G>A (p.Gly318Arg)	INSR (G318R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011050	NM_000208.4(INSR):c.1123+19G>A	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981747	NM_000208.4(INSR):c.741C>T (p.Asp247=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977178	NM_000208.4(INSR):c.63G>T (p.Leu21=)	INSR, LOC130063353	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976586	NM_000208.4(INSR):c.975-9C>T	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975113	NM_000208.4(INSR):c.1377C>G (p.Pro459=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971004	NM_000208.4(INSR):c.1093G>A (p.Gly365Arg)	INSR (G365R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970962	NM_000208.4(INSR):c.2296G>A (p.Asp766Asn)	INSR (D754N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967922	NM_000208.4(INSR):c.975-25CT[7]	INSR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2967171	NM_000208.4(INSR):c.2029+17G>T	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963327	NM_000208.4(INSR):c.1861+8T>A	INSR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2957365	NM_000208.4(INSR):c.3370-16C>T	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919737	NM_000208.4(INSR):c.3465T>C (p.Phe1155=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2917691	NM_000208.4(INSR):c.653-7T>C	INSR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911769	NM_000208.4(INSR):c.2574G>A (p.Thr858=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902785	NM_000208.4(INSR):c.561G>A (p.Pro187=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2900446	NM_000208.4(INSR):c.2740C>T (p.Arg914Cys)	INSR (R914C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889203	NM_000208.4(INSR):c.653-23TC[21]	INSR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2887735	NM_000208.4(INSR):c.3435C>T (p.Asp1145=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885509	NM_000208.4(INSR):c.951C>T (p.Ser317=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884081	NM_000208.4(INSR):c.2084A>G (p.Gln695Arg)	INSR (Q695R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882307	NM_000208.4(INSR):c.2518G>A (p.Val840Ile)	INSR (V840I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858657	NM_000208.4(INSR):c.3203G>A (p.Arg1068Gln)	INSR (R1068Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2811836	NM_000208.4(INSR):c.329G>A (p.Arg110Gln)	INSR (R110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792404	NM_000208.4(INSR):c.2741G>A (p.Arg914His)	INSR (R914H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791072	NM_000208.4(INSR):c.62T>C (p.Leu21Pro)	INSR, LOC130063353 (L21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785362	NM_000208.4(INSR):c.2901C>T (p.Leu967=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2772535	NM_000208.4(INSR):c.4121T>G (p.Leu1374Arg)	INSR (L1362R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770673	NM_000208.4(INSR):c.84C>G (p.His28Gln)	LOC130063353, INSR (H28Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740782	NM_000208.4(INSR):c.3633_3634del (p.Val1212fs)	INSR (V1212fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2736766	NM_000208.4(INSR):c.3472C>T (p.Arg1158Trp)	INSR (R1158W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732464	NM_000208.4(INSR):c.653-23TC[19]	INSR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2716762	NM_000208.4(INSR):c.2375C>T (p.Pro792Leu)	INSR (P780L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2715332	NM_000208.4(INSR):c.2320G>A (p.Val774Met)	INSR (V762M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	MBD3L3, MBD3L4 +202 more	Copy number gain	not provided	GPathogenic
Select item 2682203	NC_000019.9:g.(?_7112275)_(7123001_7125293)dup	INSR	Duplication	not specified	GUncertain significance
Select item 2671776	NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)	INSR (F658C)	Single nucleotide variant (missense variant)	Hyperinsulinism due to INSR deficiency	GUncertain significance
Select item 2664855	NM_000208.4(INSR):c.704G>T (p.Cys235Phe)	INSR (C235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2664634	NM_000208.4(INSR):c.1192C>T (p.Arg398Cys)	INSR (R398C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2649153	NM_000208.4(INSR):c.2697C>T (p.Cys899=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637767	NM_000208.4(INSR):c.3312G>A (p.Glu1104=)	INSR	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2637065	NM_000208.4(INSR):c.3485C>T (p.Ala1162Val)	INSR (A1150V +1 more)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 2634452	NM_000208.4(INSR):c.3919G>A (p.Glu1307Lys)	INSR (E1295K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2630335	NM_000208.4(INSR):c.601A>G (p.Ile201Val)	INSR (I201V)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
Select item 2629914	NM_000208.4(INSR):c.595dup (p.Thr199fs)	INSR (T199fs)	Duplication (frameshift variant)	INSR-related disorder	GLikely pathogenic
Select item 2628511	NM_000208.4(INSR):c.796G>A (p.Glu266Lys)	INSR (E266K)	Single nucleotide variant (missense variant)	INSR-related disorder	GUncertain significance
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 2627655	NM_000208.4(INSR):c.1649C>T (p.Ala550Val)	INSR (A550V)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans	GUncertain significance
Select item 2619090	NM_000208.4(INSR):c.1295A>G (p.Asn432Ser)	INSR (N432S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595690	NM_000208.4(INSR):c.3337A>G (p.Ser1113Gly)	INSR (S1101G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559247	NM_000208.4(INSR):c.3408G>C (p.Met1136Ile)	INSR (M1136I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551309	NM_000208.4(INSR):c.448A>G (p.Asn150Asp)	INSR (N150D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531982	NM_000208.4(INSR):c.2792C>T (p.Ala931Val)	INSR (A931V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525709	NM_000208.4(INSR):c.1610C>T (p.Ala537Val)	INSR (A537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517522	NM_000208.4(INSR):c.226C>G (p.Leu76Val)	INSR (L76V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2494664	NM_000208.4(INSR):c.3191G>A (p.Ser1064Asn)	INSR (S1064N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474570	NM_000208.4(INSR):c.4049G>A (p.Gly1350Asp)	INSR (G1338D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2429359	NM_000208.4(INSR):c.660_661del (p.Thr221fs)	INSR (T221fs)	Deletion (frameshift variant)	46,XY disorder of sex development	GLikely pathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	CRB3, CTXN1 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 2419909	NM_000208.4(INSR):c.2328G>A (p.Thr776=)	INSR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414166	NM_000208.4(INSR):c.3157C>T (p.Arg1053Cys)	INSR (R1041C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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