"GeneDx"[submitter] AND "ITGB6"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1274512	NM_000888.5(ITGB6):c.*102A>G	ITGB6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 218475	NM_000888.5(ITGB6):c.2269-5del	ITGB6	Deletion (intron variant)	Amelogenesis imperfecta type 1H +2 more	GBenign
Select item 218474	NM_000888.5(ITGB6):c.2269-6_2269-5del	ITGB6	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1243409	NM_000888.5(ITGB6):c.2269-114T>A	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221702	NM_000888.5(ITGB6):c.2269-115T>A	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295097	NM_000888.5(ITGB6):c.2269-140T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286112	NM_000888.5(ITGB6):c.2268+133C>A	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269204	NM_000888.5(ITGB6):c.2268+131T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252601	NM_000888.5(ITGB6):c.2268+90G>T	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309335	NM_000888.5(ITGB6):c.2170G>C (p.Val724Leu)	ITGB6 (V586L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225831	NM_000888.5(ITGB6):c.2102-101C>T	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276734	NM_000888.5(ITGB6):c.2101+313T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226997	NM_000888.5(ITGB6):c.2101+204C>T	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227008	NM_000888.5(ITGB6):c.2064T>C (p.Asn688=)	ITGB6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1238798	NM_000888.5(ITGB6):c.1982-34del	ITGB6	Deletion (intron variant)	not provided	GBenign
Select item 1251142	NM_000888.5(ITGB6):c.1982-128C>A	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3343400	NM_000888.5(ITGB6):c.1948A>C (p.Lys650Gln)	ITGB6 (K512Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1248139	NM_000888.5(ITGB6):c.1713C>G (p.Gly571=)	ITGB6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1277094	NM_000888.5(ITGB6):c.1661-55T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179821	NM_000888.5(ITGB6):c.1661-233A>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180053	NM_000888.5(ITGB6):c.1660+145T>A	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174316	NM_000888.5(ITGB6):c.1257G>A (p.Val419=)	ITGB6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232874	NM_000888.5(ITGB6):c.1108-54T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269538	NM_000888.5(ITGB6):c.1108-58C>G	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246785	NM_000888.5(ITGB6):c.1108-135T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180046	NM_000888.5(ITGB6):c.1018-210T>G	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258556	NM_000888.5(ITGB6):c.1017+38T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259778	NM_000888.5(ITGB6):c.921+88A>G	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282888	NM_000888.5(ITGB6):c.783C>T (p.Asp261=)	ITGB6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1258277	NM_000888.5(ITGB6):c.593+270C>T	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231712	NM_000888.5(ITGB6):c.593+27T>C	ITGB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305675	NM_000888.5(ITGB6):c.540A>T (p.Lys180Asn)	ITGB6 (K107N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309333	NM_000888.5(ITGB6):c.129G>A (p.Trp43Ter)	ITGB6 (G28D +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 253763	GRCh37/hg19 2q24.2(chr2:160652699-161149794)x3	RBMS1, CD302 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 35