"GeneDx"[submitter] AND "STT3B"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1317873	NC_000003.12:g.31532164C>T	STT3B	Single nucleotide variant	not provided	GLikely benign
Select item 1231696	NC_000003.12:g.31532326C>T	LOC129936405, STT3B	Single nucleotide variant	not provided	GBenign
Select item 1243553	NC_000003.12:g.31532402G>T	LOC129936405, STT3B	Single nucleotide variant	not provided	GBenign
Select item 1326683	NC_000003.12:g.31532575T>C	STT3B	Single nucleotide variant	not provided	GLikely benign
Select item 1318348	NC_000003.12:g.31532647C>T	LOC129936406, STT3B	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1292289	NC_000003.12:g.31532766A>C	STT3B	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1245369	NC_000003.12:g.31532902TCC[9]	LOC129936407, STT3B	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 506931	NM_178862.3(STT3B):c.45C>T (p.Leu15=)	LOC129936407, STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 513479	NM_178862.3(STT3B):c.141C>T (p.Gly47=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1233564	NM_178862.3(STT3B):c.314+252A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289819	NM_178862.3(STT3B):c.315-192G>T	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262164	NM_178862.3(STT3B):c.315-163G>A	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388759	NM_178862.3(STT3B):c.315-4C>G	STT3B	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 516752	NM_178862.3(STT3B):c.372T>C (p.Asn124=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation +2 more	GBenign
Select item 1226233	NM_178862.3(STT3B):c.424-287A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327283	NM_178862.3(STT3B):c.424-155T>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292306	NM_178862.3(STT3B):c.424-109del	STT3B	Deletion (intron variant)	not provided	GBenign
Select item 1252848	NM_178862.3(STT3B):c.424-73_424-72insAAA	STT3B	Insertion (intron variant)	not provided	GBenign
Select item 383032	NM_178862.3(STT3B):c.477A>G (p.Thr159=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1318285	NM_178862.3(STT3B):c.712-308T>C	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 384043	NM_178862.3(STT3B):c.747A>G (p.Thr249=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 380194	NM_178862.3(STT3B):c.777+7T>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation +2 more	GBenign
Select item 1283326	NM_178862.3(STT3B):c.777+39G>C	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380173	NM_178862.3(STT3B):c.778-17C>A	STT3B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1239284	NM_178862.3(STT3B):c.877+86A>T	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382064	NM_178862.3(STT3B):c.927T>G (p.Pro309=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 388657	NM_178862.3(STT3B):c.976+14A>G	STT3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1262243	NM_178862.3(STT3B):c.1123+126dup	STT3B	Duplication (intron variant)	not provided	GBenign
Select item 1243407	NM_178862.3(STT3B):c.1123+125_1123+126dup	STT3B	Duplication (intron variant)	not provided	GBenign
Select item 1710723	NM_178862.3(STT3B):c.1123+126del	STT3B	Deletion (intron variant)	not provided	GLikely benign
Select item 1317897	NM_178862.3(STT3B):c.1123+207C>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 391243	NM_178862.3(STT3B):c.1172+15A>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 1269534	NM_178862.3(STT3B):c.1172+274T>C	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227484	NM_178862.3(STT3B):c.1172+301_1172+302insCCTAACATA	STT3B	Insertion (intron variant)	not provided	GBenign
Select item 1235803	NM_178862.3(STT3B):c.1327+21A>C	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316345	NM_178862.3(STT3B):c.1327+99A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318168	NM_178862.3(STT3B):c.1328-113C>T	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271613	NM_178862.3(STT3B):c.1328-72_1328-71insGTGGT	STT3B	Microsatellite (intron variant)	not provided	GBenign
Select item 387449	NM_178862.3(STT3B):c.1398A>G (p.Pro466=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation +1 more	GLikely benign
Select item 512298	NM_178862.3(STT3B):c.1617C>T (p.Val539=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1320573	NM_178862.3(STT3B):c.1727+216G>A	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277237	NM_178862.3(STT3B):c.1728-140del	STT3B	Deletion (intron variant)	not provided	GBenign
Select item 1317694	NM_178862.3(STT3B):c.1728-49C>A	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510886	NM_178862.3(STT3B):c.1728-18T>C	STT3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 385858	NM_178862.3(STT3B):c.1764C>T (p.Tyr588=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 386042	NM_178862.3(STT3B):c.1824C>T (p.Gly608=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 387638	NM_178862.3(STT3B):c.1869T>C (p.Asn623=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 668477	NM_178862.3(STT3B):c.1899+15_1899+16del	STT3B	Deletion (intron variant)	STT3B-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1181912	NM_178862.3(STT3B):c.1900-155A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318349	NM_178862.3(STT3B):c.1900-138A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387258	NM_178862.3(STT3B):c.1900-17T>G	STT3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 383280	NM_178862.3(STT3B):c.2073+13A>G	STT3B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 387997	NM_178862.3(STT3B):c.2073+14T>C	STT3B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1326199	NM_178862.3(STT3B):c.2074-112C>T	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513254	NM_178862.3(STT3B):c.2142T>C (p.Asn714=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 681955	NM_178862.3(STT3B):c.2175T>C (p.Phe725=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1289927	NM_178862.3(STT3B):c.2188-265T>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236282	NM_178862.3(STT3B):c.2188-250del	STT3B	Deletion (intron variant)	not provided	GBenign
Select item 1183182	NM_178862.3(STT3B):c.2188-251_2188-250del	STT3B	Deletion (intron variant)	not provided	GBenign
Select item 389417	NM_178862.3(STT3B):c.2322A>G (p.Ala774=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-related condition +2 more	GBenign/Likely benign
Select item 1249361	NM_178862.3(STT3B):c.2400+129G>A	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233479	NM_178862.3(STT3B):c.2401-81T>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262147	NM_178862.3(STT3B):c.2401-44A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385853	NM_178862.3(STT3B):c.2401-17G>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation +1 more	GBenign/Likely benign
Select item 516788	NM_178862.3(STT3B):c.2406C>A (p.Thr802=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation +1 more	GBenign
Select item 1316677	NM_178862.3(STT3B):c.*186G>A	STT3B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253599	GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1	CCR4, CLASP2 +20 more	Copy number loss	See cases	GPathogenic

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Items: 67