ClinVar for Gene (Select 3684) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243589	NC_000016.9:g.(?_31332542)_(31343028_?)dup	ITGAM	Duplication	not provided	GUncertain significance
Select item 3243588	NC_000016.9:g.(?_31271386)_(31282425_?)dup	ITGAM	Duplication	not provided	GUncertain significance
Select item 3243587	NC_000016.9:g.(?_31271386)_(31343028_?)dup	ITGAM	Duplication	not provided	GUncertain significance
Select item 3243586	NC_000016.9:g.(?_31271386)_(31273138_?)del	ITGAM	Deletion	not provided	GUncertain significance
Select item 3243585	NC_000016.9:g.(?_31282255)_(31282425_?)del	ITGAM	Deletion	not provided	GUncertain significance
Select item 3111362	NM_000632.4(ITGAM):c.630C>A (p.Asn210Lys)	ITGAM (N210K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111360	NM_000632.4(ITGAM):c.386A>G (p.Asn129Ser)	ITGAM, LOC126862331 (N129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111359	NM_000632.4(ITGAM):c.2215G>A (p.Gly739Arg)	ITGAM (G739R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111358	NM_000632.4(ITGAM):c.1657T>C (p.Tyr553His)	ITGAM (Y554H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111356	NM_000632.4(ITGAM):c.1417G>A (p.Asp473Asn)	ITGAM (D473N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111355	NM_000632.4(ITGAM):c.1367A>G (p.Tyr456Cys)	ITGAM (Y456C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111354	NM_000632.4(ITGAM):c.1174A>G (p.Met392Val)	ITGAM (M392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055598	NM_000632.4(ITGAM):c.795C>T (p.Pro265=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	ITGAM-related disorder	GLikely benign
Select item 3052286	NM_000632.4(ITGAM):c.823G>C (p.Ala275Pro)	ITGAM, LOC126862332 (A275P)	Single nucleotide variant (missense variant)	ITGAM-related disorder	GUncertain significance
Select item 3050736	NM_000632.4(ITGAM):c.1032C>T (p.Ser344=)	ITGAM	Single nucleotide variant (synonymous variant)	ITGAM-related disorder	GLikely benign
Select item 3023689	NM_000632.4(ITGAM):c.3276+8T>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021688	NM_000632.4(ITGAM):c.2605C>T (p.Pro869Ser)	ITGAM (P869S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3020311	NM_000632.4(ITGAM):c.1213+7G>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017792	NM_000632.4(ITGAM):c.428-3C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3011920	NM_000632.4(ITGAM):c.2793-11dup	ITGAM	Duplication (intron variant)	not provided	GBenign
Select item 3010521	NM_000632.4(ITGAM):c.2124C>G (p.Thr708=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009964	NM_000632.4(ITGAM):c.986G>A (p.Arg329Gln)	ITGAM (R329Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009424	NM_000632.4(ITGAM):c.2060C>T (p.Ser687Phe)	ITGAM (S687F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008474	NM_000632.4(ITGAM):c.2363+10C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008273	NM_000632.4(ITGAM):c.3308C>A (p.Pro1103His)	ITGAM (P1104H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007729	NM_000632.4(ITGAM):c.2054C>T (p.Pro685Leu)	ITGAM (P686L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007444	NM_000632.4(ITGAM):c.2214G>A (p.Val738=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3007122	NM_000632.4(ITGAM):c.239-6C>T	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007065	NM_000632.4(ITGAM):c.2926C>T (p.Arg976Trp)	ITGAM (R977W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006273	NM_000632.4(ITGAM):c.1360G>A (p.Gly454Ser)	ITGAM (G454S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3005524	NM_000632.4(ITGAM):c.988G>A (p.Glu330Lys)	ITGAM (E330K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005343	NM_000632.4(ITGAM):c.1433G>A (p.Gly478Glu)	ITGAM (G478E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005251	NM_000632.4(ITGAM):c.858+16del	ITGAM, LOC126862332	Deletion (intron variant)	not provided	GLikely benign
Select item 3005167	NM_000632.4(ITGAM):c.1357-15T>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005052	NM_000632.4(ITGAM):c.3335G>C (p.Ser1112Thr)	ITGAM (S1113T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003716	NM_000632.4(ITGAM):c.2457C>G (p.Thr819=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001844	NM_000632.4(ITGAM):c.1292T>G (p.Leu431Arg)	ITGAM (L431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001263	NM_000632.4(ITGAM):c.3453C>G (p.Pro1151=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000759	NM_000632.4(ITGAM):c.1839-8C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000060	NM_000632.4(ITGAM):c.718A>G (p.Asn240Asp)	ITGAM, LOC126862332 (N240D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999693	NM_000632.4(ITGAM):c.1497+20G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999419	NM_000632.4(ITGAM):c.299C>T (p.Pro100Leu)	ITGAM, LOC126862331 (P100L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2999352	NM_000632.4(ITGAM):c.1454A>G (p.Gln485Arg)	ITGAM (Q485R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999131	NM_000632.4(ITGAM):c.198C>T (p.Cys66=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998828	NM_000632.4(ITGAM):c.706C>T (p.Arg236Ter)	ITGAM, LOC126862332 (R236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2997298	NM_000632.4(ITGAM):c.1109G>A (p.Gly370Glu)	ITGAM (G370E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995581	NM_000632.4(ITGAM):c.1357-17G>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995491	NM_000632.4(ITGAM):c.2506-8C>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994584	NM_000632.4(ITGAM):c.350C>T (p.Thr117Met)	ITGAM, LOC126862331 (T117M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994561	NM_000632.4(ITGAM):c.3045G>A (p.Arg1015=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994460	NM_000632.4(ITGAM):c.2063G>A (p.Arg688His)	ITGAM (R688H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994377	NM_000632.4(ITGAM):c.559-10C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992881	NM_000632.4(ITGAM):c.1231A>G (p.Ile411Val)	ITGAM (I411V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992227	NM_000632.4(ITGAM):c.3199G>A (p.Val1067Met)	ITGAM (V1067M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991811	NM_000632.4(ITGAM):c.1556G>A (p.Arg519His)	ITGAM (R519H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991763	NM_000632.4(ITGAM):c.914C>T (p.Ser305Phe)	ITGAM (S305F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989577	NM_000632.4(ITGAM):c.3174+9G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987678	NM_000632.4(ITGAM):c.378T>C (p.Phe126=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984022	NM_000632.4(ITGAM):c.702G>A (p.Val234=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983959	NM_000632.4(ITGAM):c.1928T>C (p.Val643Ala)	ITGAM (V644A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981140	NM_000632.4(ITGAM):c.3238A>T (p.Thr1080Ser)	ITGAM (T1080S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980443	NM_000632.4(ITGAM):c.309+14G>A	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979679	NM_000632.4(ITGAM):c.2987G>A (p.Ser996Asn)	ITGAM (S996N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979604	NM_000632.4(ITGAM):c.3191T>G (p.Leu1064Arg)	ITGAM (L1065R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979406	NM_000632.4(ITGAM):c.2629-16C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978456	NM_000632.4(ITGAM):c.1390G>A (p.Val464Met)	ITGAM (V464M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976710	NM_000632.4(ITGAM):c.2560G>A (p.Glu854Lys)	ITGAM (E855K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976342	NM_000632.4(ITGAM):c.2289+1G>T	ITGAM	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2975999	NM_000632.4(ITGAM):c.1708-17C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975680	NM_000632.4(ITGAM):c.2418G>A (p.Val806=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975071	NM_000632.4(ITGAM):c.2434G>A (p.Asp812Asn)	ITGAM (D813N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974021	NM_000632.4(ITGAM):c.559-13G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973507	NM_000632.4(ITGAM):c.2691C>T (p.Leu897=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2972943	NM_000632.4(ITGAM):c.1416C>T (p.Thr472=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971177	NM_000632.4(ITGAM):c.2009T>A (p.Ile670Asn)	ITGAM (I671N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969264	NM_000632.4(ITGAM):c.1839-6C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969170	NM_000632.4(ITGAM):c.2793-3C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968841	NM_000632.4(ITGAM):c.2629-4C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968688	NM_000632.4(ITGAM):c.1838+2T>A	ITGAM	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2968551	NM_000632.4(ITGAM):c.2755C>G (p.Leu919Val)	ITGAM (L919V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967648	NM_000632.4(ITGAM):c.756C>T (p.Ile252=)	ITGAM, LOC126862332	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966122	NM_000632.4(ITGAM):c.1669G>A (p.Gly557Arg)	ITGAM (G557R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965794	NM_000632.4(ITGAM):c.1418A>G (p.Asp473Gly)	ITGAM (D473G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965453	NM_000632.4(ITGAM):c.3440C>T (p.Pro1147Leu)	ITGAM (P1147L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2965441	NM_000632.4(ITGAM):c.243C>T (p.Pro81=)	ITGAM, LOC126862331	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964189	NM_000632.4(ITGAM):c.1031G>A (p.Ser344Asn)	ITGAM (S344N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962743	NM_000632.4(ITGAM):c.3403C>A (p.Arg1135=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962361	NM_000632.4(ITGAM):c.2337C>A (p.Asp779Glu)	ITGAM (D779E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962138	NM_000632.4(ITGAM):c.395A>G (p.Gln132Arg)	ITGAM, LOC126862331 (Q132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961708	NM_000632.4(ITGAM):c.2792+7G>C	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960943	NM_000632.4(ITGAM):c.1083+9C>G	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960326	NM_000632.4(ITGAM):c.1728C>G (p.Leu576=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959910	NM_000632.4(ITGAM):c.2738C>T (p.Thr913Ile)	ITGAM (T913I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959005	NM_000632.4(ITGAM):c.2869-10C>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958209	NM_000632.4(ITGAM):c.859-19C>T	ITGAM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957585	NM_000632.4(ITGAM):c.2246G>A (p.Arg749Gln)	ITGAM (R750Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956734	NM_000632.4(ITGAM):c.1083+5G>A	ITGAM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2955746	NM_000632.4(ITGAM):c.1532G>C (p.Gly511Ala)	ITGAM (G511A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914551	NM_000632.4(ITGAM):c.1899G>A (p.Arg633=)	ITGAM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914520	NM_000632.4(ITGAM):c.309+8G>C	ITGAM, LOC126862331	Single nucleotide variant (intron variant)	not provided	GLikely benign

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