"GeneDx"[submitter] AND "ITGB3"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166445	NC_000017.11:g.47253717G>C	ITGB3, LOC130061041	Single nucleotide variant	not provided	GBenign
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 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 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 2579426	NM_000212.3(ITGB3):c.259G>C (p.Ala87Pro)	ITGB3 (A87P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996166	NM_000212.3(ITGB3):c.353T>A (p.Leu118His)	ITGB3 (L118H)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1296783	NM_000212.3(ITGB3):c.361+132G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262627	NM_000212.3(ITGB3):c.361+204T>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1242720	NM_000212.3(ITGB3):c.614+234C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233245	NM_000212.3(ITGB3):c.614+285C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220682	NM_000212.3(ITGB3):c.615-316C>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289576	NM_000212.3(ITGB3):c.615-80G>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1810020	NM_000212.3(ITGB3):c.773G>C (p.Cys258Ser)	ITGB3, LOC130061044 (C258S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270973	NM_000212.3(ITGB3):c.778-40_778-36del	ITGB3	Microsatellite (intron variant)	not provided	GBenign
Select item 255541	NM_000212.3(ITGB3):c.882T>C (p.Pro294=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1290147	NM_000212.3(ITGB3):c.939+22A>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288923	NM_000212.3(ITGB3):c.939+125C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 695750	NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu)	ITGB3 (K324E)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GLikely benign FDA Recognized database
Select item 1243052	NM_000212.3(ITGB3):c.1035+102G>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580801	NM_000212.3(ITGB3):c.1081A>G (p.Met361Val)	ITGB3 (M361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233923	NM_000212.3(ITGB3):c.1125+29G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237114	NM_000212.3(ITGB3):c.1125+41C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265057	NM_000212.3(ITGB3):c.1125+175GAAG[11]	ITGB3	Microsatellite (intron variant)	not provided	GBenign
Select item 1233892	NM_000212.3(ITGB3):c.1125+175GAAG[7]	ITGB3	Microsatellite (intron variant)	not provided	GBenign
Select item 255535	NM_000212.3(ITGB3):c.1143A>C (p.Val381=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1708736	NM_000212.3(ITGB3):c.1157G>C (p.Arg386Pro)	ITGB3 (R386P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255536	NM_000212.3(ITGB3):c.1533A>G (p.Glu511=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 255537	NM_000212.3(ITGB3):c.1545G>A (p.Arg515=)	ITGB3	Single nucleotide variant (synonymous variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 953041	NM_000212.3(ITGB3):c.1913+5G>T	ITGB3	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GLikely pathogenic FDA Recognized database
Select item 1267923	NM_000212.3(ITGB3):c.1914-267G>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247119	NM_000212.3(ITGB3):c.1914-139_1914-138insTG	ITGB3	Insertion (intron variant)	not provided	GBenign
Select item 1233480	NM_000212.3(ITGB3):c.1914-136C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271733	NM_000212.3(ITGB3):c.1914-134C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261065	NM_000212.3(ITGB3):c.1914-133_1914-132insTG	ITGB3	Insertion (intron variant)	not provided	GBenign
Select item 255538	NM_000212.3(ITGB3):c.1914-19T>C	ITGB3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183472	NM_000212.3(ITGB3):c.2014+97C>T	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224971	NM_000212.3(ITGB3):c.2015-201A>G	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271035	NM_000212.3(ITGB3):c.2015-85T>C	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2572708	NM_000212.3(ITGB3):c.2030A>T (p.Asp677Val)	ITGB3 (D677V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181846	NM_000212.3(ITGB3):c.2134+193G>A	ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304752	NM_000212.3(ITGB3):c.2234T>A (p.Ile745Asn)	EFCAB13-DT, ITGB3 (I745N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13564	NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter)	EFCAB13-DT, ITGB3 (R750*)	Single nucleotide variant (nonsense)	Glanzmann thrombasthenia	GPathogenic FDA Recognized database
Select item 2092257	NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln)	EFCAB13-DT, ITGB3 (R750Q)	Single nucleotide variant (missense variant)	Glanzmann thrombasthenia	GUncertain significance FDA Recognized database
Select item 2582206	NM_000212.3(ITGB3):c.2301+5G>A	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 255539	NM_000212.3(ITGB3):c.2301+9C>T	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	Glanzmann thrombasthenia	GBenign FDA Recognized database
Select item 1221890	NM_000212.3(ITGB3):c.2302-230A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280638	NM_000212.3(ITGB3):c.2302-113A>G	EFCAB13-DT, ITGB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1303454	NM_000212.3(ITGB3):c.2345A>G (p.Asn782Ser)	EFCAB13-DT, ITGB3 (N782S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809815	NM_000212.3(ITGB3):c.2360G>A (p.Gly787Asp)	EFCAB13-DT, ITGB3 (G787D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 323891	NM_000212.3(ITGB3):c.*1016T>A	EFCAB13-DT, ITGB3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 55