ClinVar for Gene (Select 3690) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075873	NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter)	ITGB3 (Y695*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GLikely pathogenic
Select item 3068852	NM_000212.3(ITGB3):c.1088C>G (p.Ser363Cys)	ITGB3 (S363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3022993	NM_000212.3(ITGB3):c.20C>T (p.Pro7Leu)	ITGB3, LOC130061041 (P7L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022809	NM_000212.3(ITGB3):c.1908T>C (p.Phe636=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022210	NM_000212.3(ITGB3):c.1695T>C (p.His565=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021602	NM_000212.3(ITGB3):c.79+7G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021174	NM_000212.3(ITGB3):c.1512T>C (p.Tyr504=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020851	NC_000017.11:g.47307469AG[1]	EFCAB13-DT, ITGB3	Microsatellite	not provided	GPathogenic
Select item 3019802	NM_000212.3(ITGB3):c.449T>C (p.Met150Thr)	ITGB3 (M150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3018426	NM_000212.3(ITGB3):c.64_73dup (p.Val25fs)	ITGB3 (V25fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3018423	NM_000212.3(ITGB3):c.2040T>C (p.Asn680=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017032	NM_000212.3(ITGB3):c.2135-10_2135-8del	EFCAB13-DT, ITGB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3016899	NM_000212.3(ITGB3):c.778-5A>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016869	NM_000212.3(ITGB3):c.166-12C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015764	NM_000212.3(ITGB3):c.39T>C (p.Thr13=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015107	NM_000212.3(ITGB3):c.79+9G>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014339	NM_000212.3(ITGB3):c.171G>A (p.Leu57=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013639	NM_000212.3(ITGB3):c.7G>C (p.Ala3Pro)	ITGB3, LOC130061041 (A3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013468	NM_000212.3(ITGB3):c.940-15C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010511	NM_000212.3(ITGB3):c.79+16G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010092	NM_000212.3(ITGB3):c.1260+17A>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009403	NM_000212.3(ITGB3):c.4C>A (p.Arg2=)	ITGB3, LOC130061041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008065	NM_000212.3(ITGB3):c.2134+16C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007613	NM_000212.3(ITGB3):c.1A>T (p.Met1Leu)	ITGB3, LOC130061041 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007561	NM_000212.3(ITGB3):c.930C>T (p.Ser310=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005056	NM_000212.3(ITGB3):c.1068T>C (p.Val356=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003907	NM_000212.3(ITGB3):c.1464T>C (p.Cys488=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003815	NM_000212.3(ITGB3):c.1125+18G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997536	NM_000212.3(ITGB3):c.79+20G>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996159	NM_000212.3(ITGB3):c.2070C>A (p.Val690=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994602	NM_000212.3(ITGB3):c.978C>T (p.Ser326=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994567	NM_000212.3(ITGB3):c.18G>T (p.Arg6=)	ITGB3, LOC130061041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992872	NM_000212.3(ITGB3):c.1757G>C (p.Cys586Ser)	ITGB3 (C586S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992463	NM_000212.3(ITGB3):c.994T>C (p.Leu332=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989847	NM_000212.3(ITGB3):c.1953A>C (p.Leu651=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989612	NM_000212.3(ITGB3):c.1394C>T (p.Ala465Val)	ITGB3 (A465V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988732	NM_000212.3(ITGB3):c.27G>A (p.Pro9=)	ITGB3	Single nucleotide variant (synonymous variant)	ITGB3-related condition +1 more	GLikely benign
Select item 2988183	NM_000212.3(ITGB3):c.79+20G>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986536	NM_000212.3(ITGB3):c.614+15C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984069	NM_000212.3(ITGB3):c.603C>A (p.Asn201Lys)	ITGB3 (N201K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982962	NM_000212.3(ITGB3):c.940-20T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982088	NM_000212.3(ITGB3):c.2211C>G (p.Ala737=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980435	NM_000212.3(ITGB3):c.876C>T (p.Val292=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979177	NM_000212.3(ITGB3):c.351G>C (p.Arg117=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978762	NM_000212.3(ITGB3):c.1908del (p.Phe636fs)	ITGB3 (F636fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2976805	NM_000212.3(ITGB3):c.1904C>G (p.Thr635Ser)	ITGB3 (T635S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976191	NM_000212.3(ITGB3):c.1980C>T (p.Tyr660=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975325	NM_000212.3(ITGB3):c.723C>T (p.Asn241=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975305	NM_000212.3(ITGB3):c.1881C>T (p.Cys627=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975304	NM_000212.3(ITGB3):c.1521C>G (p.Ser507=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974767	NM_000212.3(ITGB3):c.1690+19C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974706	NM_000212.3(ITGB3):c.1851G>A (p.Pro617=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973667	NM_000212.3(ITGB3):c.1690+6_1690+8del	ITGB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2970864	NM_000212.3(ITGB3):c.1491T>C (p.Cys497=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969962	NM_000212.3(ITGB3):c.1126-14C>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967047	NM_000212.3(ITGB3):c.1035+14C>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966242	NM_000212.3(ITGB3):c.2025C>G (p.Gly675=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966070	NM_000212.3(ITGB3):c.1035+19T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962730	NM_000212.3(ITGB3):c.1691-20C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961406	NM_000212.3(ITGB3):c.1116T>C (p.Asp372=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960356	NM_000212.3(ITGB3):c.615-17C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960069	NM_000212.3(ITGB3):c.1560C>G (p.Val520=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959624	NM_000212.3(ITGB3):c.614+14C>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958935	NM_000212.3(ITGB3):c.1455A>G (p.Val485=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958934	NM_000212.3(ITGB3):c.582C>T (p.Ser194=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958426	NM_000212.3(ITGB3):c.2301+20G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957417	NM_000212.3(ITGB3):c.621G>A (p.Lys207=)	ITGB3, LOC130061043	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956139	NM_000212.3(ITGB3):c.2001dup (p.Val668fs)	ITGB3 (V668fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2955134	NM_000212.3(ITGB3):c.1461T>C (p.Arg487=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919628	NM_000212.3(ITGB3):c.663G>A (p.Thr221=)	ITGB3, LOC130061043	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2918555	NM_000212.3(ITGB3):c.605C>T (p.Pro202Leu)	ITGB3 (P202L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916955	NM_000212.3(ITGB3):c.1035+18C>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916772	NM_000212.3(ITGB3):c.2280C>T (p.Arg760=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916472	NM_000212.3(ITGB3):c.361+20C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915860	NM_000212.3(ITGB3):c.614+14C>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915187	NM_000212.3(ITGB3):c.615-1G>C	ITGB3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2913447	NM_000212.3(ITGB3):c.2244C>T (p.His748=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912431	NM_000212.3(ITGB3):c.1854C>A (p.Gly618=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910744	NM_000212.3(ITGB3):c.2301+19C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909099	NM_000212.3(ITGB3):c.1260+17A>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908931	NM_000212.3(ITGB3):c.105T>C (p.Gly35=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908716	NM_000212.3(ITGB3):c.397G>A (p.Val133Met)	ITGB3 (V133M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908607	NM_000212.3(ITGB3):c.2043T>C (p.Cys681=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908575	NM_000212.3(ITGB3):c.984A>G (p.Lys328=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908567	NM_000212.3(ITGB3):c.1218C>A (p.Ile406=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907326	NM_000212.3(ITGB3):c.21C>G (p.Pro7=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907076	NM_000212.3(ITGB3):c.855C>T (p.Asp285=)	ITGB3, LOC130061045	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906979	NM_000212.3(ITGB3):c.79+7G>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906667	NM_000212.3(ITGB3):c.1540C>G (p.Pro514Ala)	ITGB3 (P514A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906202	NM_000212.3(ITGB3):c.1544_1545delinsAA (p.Arg515Gln)	ITGB3 (R515Q)	Indel (missense variant)	not provided	GLikely benign
Select item 2905568	NM_000212.3(ITGB3):c.2172C>T (p.Leu724=)	EFCAB13-DT, ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905313	NM_000212.3(ITGB3):c.1036-8C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905040	NM_000212.3(ITGB3):c.594C>T (p.Ala198=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904707	NM_000212.3(ITGB3):c.30C>G (p.Leu10=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904682	NM_000212.3(ITGB3):c.708G>A (p.Gln236=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904516	NM_000212.3(ITGB3):c.1914-14C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904345	NM_000212.3(ITGB3):c.567A>C (p.Pro189=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902986	NM_000212.3(ITGB3):c.486C>A (p.Thr162=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902958	NM_000212.3(ITGB3):c.1035+1G>A	ITGB3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2902590	NM_000212.3(ITGB3):c.1368C>A (p.Thr456=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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