STT3B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
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 3049939	NM_178862.3(STT3B):c.-7G>C	LOC129936407, STT3B	Single nucleotide variant (5 prime UTR variant)	STT3B-related disorder	GLikely benign
Select item 1042772	NM_178862.3(STT3B):c.11C>T (p.Pro4Leu)	LOC129936407, STT3B (P4L)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2827339	NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)	LOC129936407, STT3B (S5P)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 731430	NM_178862.3(STT3B):c.15G>C (p.Ser5=)	LOC129936407, STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171702	NM_178862.3(STT3B):c.20C>T (p.Pro7Leu)	LOC129936407, STT3B (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2073887	NM_178862.3(STT3B):c.32A>G (p.His11Arg)	LOC129936407, STT3B (H11R)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2715679	NM_178862.3(STT3B):c.33C>T (p.His11=)	LOC129936407, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1686968	NM_178862.3(STT3B):c.38C>G (p.Ser13Trp)	LOC129936407, STT3B	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GPathogenic
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 2247507	NM_178862.3(STT3B):c.56C>T (p.Pro19Leu)	STT3B (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 705134	NM_178862.3(STT3B):c.87C>T (p.Ser29=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171696	NM_178862.3(STT3B):c.106C>T (p.Pro36Ser)	LOC129936408, STT3B (P36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 702393	NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)	STT3B, LOC129936408 (G46S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GBenign
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 1617933	NM_178862.3(STT3B):c.153G>C (p.Pro51=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 729966	NM_178862.3(STT3B):c.171G>A (p.Gly57=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2893760	NM_178862.3(STT3B):c.201G>C (p.Gly67=)	LOC129936408, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1589528	NM_178862.3(STT3B):c.225C>T (p.Thr75=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 714200	NM_178862.3(STT3B):c.235C>T (p.Leu79=)	STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653643	NM_178862.3(STT3B):c.249C>T (p.Ala83=)	STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552327	NM_178862.3(STT3B):c.264C>T (p.Arg88=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1354333	NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr)	LOC129936409, STT3B (D103Y)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 1099884	NM_178862.3(STT3B):c.309C>T (p.Asp103=)	LOC129936409, STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 728032	NM_178862.3(STT3B):c.314+9C>T	LOC129936409, STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely 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 3171703	NM_178862.3(STT3B):c.347C>T (p.Ser116Phe)	STT3B (S116F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 516752	NM_178862.3(STT3B):c.372T>C (p.Asn124=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2795740	NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)	STT3B (R129S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 1140004	NM_178862.3(STT3B):c.390A>G (p.Ala130=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 1569661	NM_178862.3(STT3B):c.424-5C>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 773440	NM_178862.3(STT3B):c.424-4C>T	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746656	NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)	STT3B (A150S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 1393970	NM_178862.3(STT3B):c.490G>A (p.Val164Ile)	STT3B (V164I)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 3017234	NM_178862.3(STT3B):c.496A>G (p.Ile166Val)	STT3B (I166V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2410683	NM_178862.3(STT3B):c.505G>A (p.Val169Ile)	STT3B (V169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301311	NM_178862.3(STT3B):c.505G>C (p.Val169Leu)	STT3B (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201261	NM_178862.3(STT3B):c.525A>G (p.Pro175=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 3171704	NM_178862.3(STT3B):c.565A>G (p.Thr189Ala)	STT3B (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1910329	NM_178862.3(STT3B):c.598T>C (p.Leu200=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2695561	NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)	STT3B (A201T)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 522893	NM_178862.3(STT3B):c.619A>G (p.Ile207Val)	STT3B (I207V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 726606	NM_178862.3(STT3B):c.657C>T (p.Ser219=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2314529	NM_178862.3(STT3B):c.673A>G (p.Ile225Val)	STT3B (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318285	NM_178862.3(STT3B):c.712-308T>C	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2591183	NM_178862.3(STT3B):c.721G>A (p.Val241Ile)	STT3B (V241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 384043	NM_178862.3(STT3B):c.747A>G (p.Thr249=)	STT3B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3171706	NM_178862.3(STT3B):c.748A>G (p.Met250Val)	STT3B (M250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 651772	NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)	STT3B (C253S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1559582	NM_178862.3(STT3B):c.765C>G (p.Ser255=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 380194	NM_178862.3(STT3B):c.777+7T>G	STT3B	Single nucleotide variant (intron variant)	STT3B-related disorder +2 more	GBenign
Select item 1546334	NM_178862.3(STT3B):c.777+11A>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 2789464	NM_178862.3(STT3B):c.778-12C>A	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2913533	NM_178862.3(STT3B):c.778-3T>C	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2164557	NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)	STT3B (N271S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 718984	NM_178862.3(STT3B):c.819T>A (p.Ile273=)	STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3171707	NM_178862.3(STT3B):c.835G>T (p.Val279Leu)	STT3B (V279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171708	NM_178862.3(STT3B):c.860G>A (p.Ser287Asn)	STT3B (S287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1614664	NM_178862.3(STT3B):c.870C>G (p.Val290=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1239284	NM_178862.3(STT3B):c.877+86A>T	STT3B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650729	NM_178862.3(STT3B):c.878-15A>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1346179	NM_178862.3(STT3B):c.887C>G (p.Thr296Ser)	STT3B (T296S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 595657	NM_178862.3(STT3B):c.893A>G (p.Tyr298Cys)	STT3B (Y298C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585072	NM_178862.3(STT3B):c.895A>G (p.Ile299Val)	STT3B (I299V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 748615	NM_178862.3(STT3B):c.915A>C (p.Ser305=)	STT3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1970903	NM_178862.3(STT3B):c.976+5G>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 1609629	NM_178862.3(STT3B):c.976+7A>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	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 2122459	NM_178862.3(STT3B):c.1014G>T (p.Gln338His)	STT3B (Q338H)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 712313	NM_178862.3(STT3B):c.1071A>G (p.Val357=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2049333	NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)	STT3B (S358L)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2415838	NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)	STT3B (V368F)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 1112401	NM_178862.3(STT3B):c.1170T>C (p.Thr390=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1107631	NM_178862.3(STT3B):c.1172+9A>C	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	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

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