ClinVar for MedGen (Select 419309) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2919934	NM_178862.3(STT3B):c.2349C>T (p.His783=)	STT3B	Single nucleotide variant (synonymous 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 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 2886957	NM_178862.3(STT3B):c.2401-17_2401-16del	STT3B	Microsatellite (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 2810045	NM_178862.3(STT3B):c.1500T>C (p.Asp500=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 2789464	NM_178862.3(STT3B):c.778-12C>A	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2789047	NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)	STT3B (I538V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2761967	NM_178862.3(STT3B):c.1263T>G (p.Leu421=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 2723388	NM_178862.3(STT3B):c.2349C>A (p.His783Gln)	STT3B (H783Q)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 2719019	NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)	STT3B (K793T)	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 2709498	NM_178862.3(STT3B):c.1638A>G (p.Leu546=)	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 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 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 2182484	NM_178862.3(STT3B):c.1900-12T>A	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 2160327	NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2150766	NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)	STT3B (A521V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2150615	NM_178862.3(STT3B):c.2361C>A (p.Val787=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 2146898	NM_178862.3(STT3B):c.1900-11A>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2123911	NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)	STT3B (G613R)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 2083969	NM_178862.3(STT3B):c.1727+15C>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 2072720	NM_178862.3(STT3B):c.2401-5dup	STT3B	Duplication (intron variant)	STT3B-congenital disorder of glycosylation	GBenign
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 2015567	NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)	STT3B (R691W)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 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 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 1650729	NM_178862.3(STT3B):c.878-15A>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1626536	NM_178862.3(STT3B):c.1725T>C (p.Asp575=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely 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 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 1609629	NM_178862.3(STT3B):c.976+7A>T	STT3B	Single nucleotide variant (intron 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 1569661	NM_178862.3(STT3B):c.424-5C>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 1563458	NM_178862.3(STT3B):c.2412G>A (p.Arg804=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 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 1546334	NM_178862.3(STT3B):c.777+11A>G	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GLikely benign
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 1392903	NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly)	STT3B (R650G)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 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 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 1026533	NM_178862.3(STT3B):c.1335A>G (p.Leu445=)	STT3B	Single nucleotide variant (synonymous variant)	STT3B-congenital disorder of glycosylation	GLikely benign
Select item 972008	NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)	STT3B (R691Q)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
Select item 849370	NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)	STT3B (I448V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 702393	NM_178862.3(STT3B):c.136G>A (p.Gly46Ser)	LOC129936408, STT3B (G46S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation	GBenign
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 668477	NM_178862.3(STT3B):c.1899+15_1899+16del	STT3B	Deletion (intron variant)	not provided +1 more	GLikely benign
Select item 655126	NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)	STT3B (N789S)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +2 more	GUncertain significance
Select item 651772	NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)	STT3B (C253S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 585072	NM_178862.3(STT3B):c.895A>G (p.Ile299Val)	STT3B (I299V)	Single nucleotide variant (missense variant)	STT3B-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
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 516788	NM_178862.3(STT3B):c.2406C>A (p.Thr802=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 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 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 389417	NM_178862.3(STT3B):c.2322A>G (p.Ala774=)	STT3B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 387997	NM_178862.3(STT3B):c.2073+14T>C	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation +1 more	GBenign
Select item 387449	NM_178862.3(STT3B):c.1398A>G (p.Pro466=)	STT3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 385858	NM_178862.3(STT3B):c.1764C>T (p.Tyr588=)	STT3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 385853	NM_178862.3(STT3B):c.2401-17G>T	STT3B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 383032	NM_178862.3(STT3B):c.477A>G (p.Thr159=)	STT3B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 380173	NM_178862.3(STT3B):c.778-17C>A	STT3B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 102449	NM_178862.3(STT3B):c.1539+20G>T	STT3B	Single nucleotide variant (intron variant)	STT3B-congenital disorder of glycosylation	GPathogenic

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Items: 82