ITGB3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 1166445	NC_000017.11:g.47253717G>C	ITGB3, LOC130061041	Single nucleotide variant	not provided	GBenign
Select item 255534	NM_000212.3(ITGB3):c.-7G>C	ITGB3, LOC130061041	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
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 2498369	NM_000212.3(ITGB3):c.2T>C (p.Met1Thr)	ITGB3, LOC130061041 (M1T)	Single nucleotide variant (missense variant +1 more)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
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 3013639	NM_000212.3(ITGB3):c.7G>C (p.Ala3Pro)	ITGB3, LOC130061041 (A3P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891898	NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp)	ITGB3, LOC130061041 (R6W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2899698	NM_000212.3(ITGB3):c.17G>T (p.Arg6Leu)	ITGB3, LOC130061041 (R6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2472373	NM_000212.3(ITGB3):c.17G>A (p.Arg6Gln)	ITGB3, LOC130061041 (R6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2068889	NM_000212.3(ITGB3):c.18G>A (p.Arg6=)	ITGB3, LOC130061041	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891899	NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser)	ITGB3, LOC130061041 (P7S)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	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 2907326	NM_000212.3(ITGB3):c.21C>G (p.Pro7=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744583	NM_000212.3(ITGB3):c.23G>C (p.Arg8Pro)	ITGB3 (R8P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277454	NM_000212.3(ITGB3):c.23G>A (p.Arg8Gln)	ITGB3 (R8Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2904707	NM_000212.3(ITGB3):c.30C>G (p.Leu10=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 953028	NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg)	ITGB3 (W11R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2471392	NM_000212.3(ITGB3):c.35C>A (p.Ala12Glu)	ITGB3 (A12E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2732317	NM_000212.3(ITGB3):c.36G>T (p.Ala12=)	ITGB3	Single nucleotide variant (synonymous 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 235258	NM_000212.3(ITGB3):c.40G>A (p.Val14Met)	ITGB3 (V14M)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 2890230	NM_000212.3(ITGB3):c.49C>T (p.Leu17=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627094	NM_000212.3(ITGB3):c.55dup (p.Ala19fs)	ITGB3 (A19fs)	Duplication (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1438062	NM_000212.3(ITGB3):c.55del (p.Ala19fs)	ITGB3 (A19fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2886109	NM_000212.3(ITGB3):c.54G>A (p.Gly18=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2050481	NM_000212.3(ITGB3):c.57_58delinsTT (p.Ala19_Leu20=)	ITGB3	Indel (synonymous variant)	not provided	GUncertain significance
Select item 323862	NM_000212.3(ITGB3):c.57G>T (p.Ala19=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 3018426	NM_000212.3(ITGB3):c.64_73dup (p.Val25fs)	ITGB3 (V25fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 323863	NM_000212.3(ITGB3):c.58C>T (p.Leu20=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1703874	NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg)	ITGB3 (L20R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1691472	NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro)	ITGB3 (L20P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 450754	NM_000212.3(ITGB3):c.62C>T (p.Ala21Val)	ITGB3 (A21V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2711944	NM_000212.3(ITGB3):c.63G>C (p.Ala21=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889446	NM_000212.3(ITGB3):c.72C>T (p.Gly24=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 2900284	NM_000212.3(ITGB3):c.75A>G (p.Val25=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703875	NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg)	ITGB3 (G27R)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia 2	GLikely pathogenic
Select item 953050	NM_000212.3(ITGB3):c.79+1G>A	ITGB3	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 3021602	NM_000212.3(ITGB3):c.79+7G>A	ITGB3	Single nucleotide variant (intron 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 2896574	NM_000212.3(ITGB3):c.79+7G>T	ITGB3	Single nucleotide variant (intron 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 2720826	NM_000212.3(ITGB3):c.79+14C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855640	NM_000212.3(ITGB3):c.79+15G>A	ITGB3	Single nucleotide variant (intron variant)	not provided +1 more	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 2758227	NM_000212.3(ITGB3):c.79+17C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2735048	NM_000212.3(ITGB3):c.79+19C>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 2988183	NM_000212.3(ITGB3):c.79+20G>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233953	NM_000212.3(ITGB3):c.79+52C>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283297	NM_000212.3(ITGB3):c.79+121G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272346	NM_000212.3(ITGB3):c.79+196C>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290734	NM_000212.3(ITGB3):c.80-280C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180256	NM_000212.3(ITGB3):c.80-266C>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2801112	NM_000212.3(ITGB3):c.80-27_80-15del	ITGB3	Deletion (intron variant)	not provided	GLikely benign
Select item 2695505	NM_000212.3(ITGB3):c.80-9_80-6del	ITGB3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2831929	NM_000212.3(ITGB3):c.80-14T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705239	NM_000212.3(ITGB3):c.81G>A (p.Gly27=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287848	NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp)	ITGB3 (N29D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2428170	NM_000212.3(ITGB3):c.92_93del (p.Cys31fs)	ITGB3 (C31fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1879039	NM_000212.3(ITGB3):c.92G>A (p.Cys31Tyr)	ITGB3 (C31Y)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2805055	NM_000212.3(ITGB3):c.96C>A (p.Thr32=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732429	NM_000212.3(ITGB3):c.96C>T (p.Thr32=)	ITGB3	Single nucleotide variant (synonymous variant)	ITGB3-related condition +1 more	GLikely benign
Select item 2888608	NM_000212.3(ITGB3):c.98C>T (p.Thr33Met)	ITGB3 (T33M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891663	NM_000212.3(ITGB3):c.99G>A (p.Thr33=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 996193	NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter)	ITGB3 (R34*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2037320	NM_000212.3(ITGB3):c.101G>A (p.Arg34Gln)	ITGB3 (R34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731751	NM_000212.3(ITGB3):c.102A>T (p.Arg34=)	ITGB3	Single nucleotide variant (synonymous 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 953043	NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)	ITGB3 (C39G)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1879041	NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter)	ITGB3 (Q40*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 1879027	NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter)	ITGB3 (Q41*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 953030	NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter)	ITGB3 (C42*)	Duplication (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2884625	NM_000212.3(ITGB3):c.129G>C (p.Leu43=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740173	NM_000212.3(ITGB3):c.141C>T (p.Pro47=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1330352	NM_000212.3(ITGB3):c.153del (p.Trp51fs)	ITGB3 (W51fs)	Deletion (frameshift variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2736608	NM_000212.3(ITGB3):c.155_156delinsTT (p.Cys52Phe)	ITGB3 (C52F)	Indel (missense variant)	not provided	GUncertain significance
Select item 2498371	NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe)	ITGB3 (C52F)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 1879054	NM_000212.3(ITGB3):c.161_165+1delinsCTGATT	ITGB3	Indel (splice donor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 13560	NM_000212.3(ITGB3):c.165+1G>T	ITGB3	Single nucleotide variant (splice donor variant)	Glanzmann thrombasthenia 2	GPathogenic
Select item 752207	NM_000212.3(ITGB3):c.165+8G>A	ITGB3	Single nucleotide variant (intron variant)	ITGB3-related condition +1 more	GLikely benign
Select item 2789481	NM_000212.3(ITGB3):c.165+13T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730031	NM_000212.3(ITGB3):c.165+19A>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1330326	NM_000212.3(ITGB3):c.166-14C>A	ITGB3	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2876024	NM_000212.3(ITGB3):c.166-13T>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825537	NM_000212.3(ITGB3):c.166-13T>C	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 2876368	NM_000212.3(ITGB3):c.166-11C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888729	NM_000212.3(ITGB3):c.166-8T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894564	NM_000212.3(ITGB3):c.166-7C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996186	NM_000212.3(ITGB3):c.166-2A>G	ITGB3	Single nucleotide variant (splice acceptor variant)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 3014339	NM_000212.3(ITGB3):c.171G>A (p.Leu57=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693573	NM_000212.3(ITGB3):c.173del (p.Pro58fs)	ITGB3 (P58fs)	Deletion (frameshift variant)	Bleeding disorder, platelet-type, 24	GUncertain significance
Select item 2707620	NM_000212.3(ITGB3):c.174T>C (p.Pro58=)	ITGB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 953062	NM_000212.3(ITGB3):c.175C>G (p.Leu59Val)	ITGB3 (L59V)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 13558	NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro)	ITGB3 (L59P)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 697901	NM_000212.3(ITGB3):c.180C>T (p.Gly60=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database

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