ClinVar for Gene (Select 201595) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323451	NM_178862.3(STT3B):c.2440G>C (p.Val814Leu)	STT3B (V814L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323450	NM_178862.3(STT3B):c.347C>G (p.Ser116Cys)	STT3B (S116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323449	NM_178862.3(STT3B):c.370A>G (p.Asn124Asp)	STT3B (N124D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323448	NM_178862.3(STT3B):c.580A>G (p.Asn194Asp)	STT3B (N194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323447	NM_178862.3(STT3B):c.2125T>C (p.Ser709Pro)	STT3B (S709P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323446	NM_178862.3(STT3B):c.1717A>G (p.Asn573Asp)	STT3B (N573D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323445	NM_178862.3(STT3B):c.25A>C (p.Ser9Arg)	LOC129936407, STT3B (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
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 3171707	NM_178862.3(STT3B):c.835G>T (p.Val279Leu)	STT3B (V279L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3171704	NM_178862.3(STT3B):c.565A>G (p.Thr189Ala)	STT3B (T189A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3171702	NM_178862.3(STT3B):c.20C>T (p.Pro7Leu)	LOC129936407, STT3B (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171701	NM_178862.3(STT3B):c.2092C>T (p.Pro698Ser)	STT3B (P698S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171699	NM_178862.3(STT3B):c.1942A>G (p.Ile648Val)	STT3B (I648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171698	NM_178862.3(STT3B):c.1297A>C (p.Ile433Leu)	STT3B (I433L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171697	NM_178862.3(STT3B):c.1225A>C (p.Thr409Pro)	STT3B (T409P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
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 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 2653643	NM_178862.3(STT3B):c.249C>T (p.Ala83=)	STT3B	Single nucleotide variant (synonymous 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 2555707	NM_178862.3(STT3B):c.1649T>G (p.Phe550Cys)	STT3B (F550C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544172	NM_178862.3(STT3B):c.2437C>G (p.Leu813Val)	STT3B (L813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523788	NM_178862.3(STT3B):c.2320G>A (p.Ala774Thr)	STT3B (A774T)	Single nucleotide variant (missense variant)	not specified	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 2410683	NM_178862.3(STT3B):c.505G>A (p.Val169Ile)	STT3B (V169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363218	NM_178862.3(STT3B):c.1930G>T (p.Ala644Ser)	STT3B (A644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2301311	NM_178862.3(STT3B):c.505G>C (p.Val169Leu)	STT3B (V169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291542	NM_178862.3(STT3B):c.1400T>C (p.Val467Ala)	STT3B (V467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270915	NM_178862.3(STT3B):c.1483G>T (p.Val495Leu)	STT3B (V495L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 1710723	NM_178862.3(STT3B):c.1123+126del	STT3B	Deletion (intron variant)	not provided	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 1527002	GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)	AZI2, CMC1 +20 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
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 1327283	NM_178862.3(STT3B):c.424-155T>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326683	NC_000003.12:g.31532575T>C	STT3B	Single nucleotide variant	not provided	GLikely benign
Select item 1326199	NM_178862.3(STT3B):c.2074-112C>T	STT3B	Single nucleotide variant (intron variant)	not provided	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 1318349	NM_178862.3(STT3B):c.1900-138A>G	STT3B	Single nucleotide variant (intron 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 1318285	NM_178862.3(STT3B):c.712-308T>C	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 1317897	NM_178862.3(STT3B):c.1123+207C>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317873	NC_000003.12:g.31532164C>T	STT3B	Single nucleotide variant	not provided	GLikely benign
Select item 1317694	NM_178862.3(STT3B):c.1728-49C>A	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316677	NM_178862.3(STT3B):c.*186G>A	STT3B	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1316345	NM_178862.3(STT3B):c.1327+99A>G	STT3B	Single nucleotide variant (intron variant)	not provided	GLikely benign

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