"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRIOBP"[g - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43848	NM_001039141.3(TRIOBP):c.-14C>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 229354	NM_001039141.3(TRIOBP):c.-3A>G	TRIOBP	Single nucleotide variant (5 prime UTR variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 666768	NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 790776	NM_001039141.3(TRIOBP):c.365T>C (p.Leu122Ser)	TRIOBP (L122S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 43850	NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser)	TRIOBP (G131S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3052622	NM_001039141.3(TRIOBP):c.395C>G (p.Ser132Cys)	TRIOBP (S132C)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GUncertain significance
Select item 178554	NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile)	TRIOBP (T195I)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GBenign/Likely benign
Select item 2180245	NM_001039141.3(TRIOBP):c.703C>T (p.Arg235Trp)	TRIOBP (R235W)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1050176	NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp)	TRIOBP (R237W)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3037240	NM_001039141.3(TRIOBP):c.837C>T (p.Ser279=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition	GLikely benign
Select item 1034398	NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser)	TRIOBP (A322S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1190098	NM_001039141.3(TRIOBP):c.965C>T (p.Ala322Val)	TRIOBP (A322V)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GBenign/Likely benign
Select item 3051307	NM_001039141.3(TRIOBP):c.1074T>C (p.Ser358=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition	GLikely benign
Select item 593116	NM_001039141.3(TRIOBP):c.1158C>T (p.Asp386=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 596327	NM_001039141.3(TRIOBP):c.1225C>T (p.Arg409Trp)	TRIOBP (R409W)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 595060	NM_001039141.3(TRIOBP):c.1263T>C (p.Asn421=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1422190	NM_001039141.3(TRIOBP):c.1690A>G (p.Thr564Ala)	TRIOBP (T564A)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3050637	NM_001039141.3(TRIOBP):c.1727G>C (p.Arg576Thr)	TRIOBP (R576T)	Single nucleotide variant (missense variant)	TRIOBP-related condition	GLikely benign
Select item 1353943	NM_001039141.3(TRIOBP):c.1772A>G (p.Asn591Ser)	TRIOBP (N591S)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2187486	NM_001039141.3(TRIOBP):c.1932A>G (p.Gln644=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 3053596	NM_001039141.3(TRIOBP):c.1940G>A (p.Ser647Asn)	TRIOBP (S647N)	Single nucleotide variant (missense variant)	TRIOBP-related condition	GBenign
Select item 3052349	NM_001039141.3(TRIOBP):c.1962A>G (p.Arg654=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition	GLikely benign
Select item 1585740	NM_001039141.3(TRIOBP):c.1964G>A (p.Arg655Gln)	TRIOBP (R655Q)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 290786	NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe)	TRIOBP (S734F)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2445673	NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)	TRIOBP (R861*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28 +1 more	GPathogenic
Select item 1293730	NM_001039141.3(TRIOBP):c.2664A>G (p.Gln888=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GBenign
Select item 1201799	NM_001039141.3(TRIOBP):c.2724G>A (p.Ser908=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GBenign/Likely benign
Select item 198446	NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val)	TRIOBP (A1023V)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2900303	NM_001039141.3(TRIOBP):c.3225G>A (p.Ser1075=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1219472	NM_001039141.3(TRIOBP):c.3369C>T (p.Ser1123=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 1308848	NM_001039141.3(TRIOBP):c.3689C>T (p.Pro1230Leu)	TRIOBP (P1230L)	Single nucleotide variant (missense variant)	TRIOBP-related condition +1 more	GUncertain significance
Select item 2637326	NM_001039141.3(TRIOBP):c.3758G>A (p.Arg1253Gln)	TRIOBP (R1253Q)	Single nucleotide variant (missense variant)	TRIOBP-related condition	GUncertain significance
Select item 1628189	NM_001039141.3(TRIOBP):c.3926G>A (p.Arg1309His)	TRIOBP (R1309H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43851	NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 165587	NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)	TRIOBP (R1344Q)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GBenign/Likely benign
Select item 43853	NM_001039141.3(TRIOBP):c.4099C>T (p.Arg1367Trp)	TRIOBP (R1367W)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GLikely benign
Select item 43854	NM_001039141.3(TRIOBP):c.4116G>T (p.Glu1372Asp)	TRIOBP (E1372D)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 43855	NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg)	TRIOBP (W1377R)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 178555	NM_001039141.3(TRIOBP):c.4139A>G (p.Glu1380Gly)	TRIOBP (E1380G)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 227125	NM_001039141.3(TRIOBP):c.4165C>A (p.Leu1389Ile)	TRIOBP (L1389I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 43856	NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu)	TRIOBP (P1393L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 43857	NM_001039141.3(TRIOBP):c.4333A>G (p.Arg1445Gly)	TRIOBP (R1445G)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 257221	NM_001039141.3(TRIOBP):c.4419G>A (p.Pro1473=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 731860	NM_001039141.3(TRIOBP):c.4510A>G (p.Arg1504Gly)	TRIOBP (R1504G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 506008	NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys)	TRIOBP (R1576C)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 594844	NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 739988	NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala)	TRIOBP (P1598A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28 +2 more	GConflicting classifications of pathogenicity
Select item 504692	NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 2629568	NM_001039141.3(TRIOBP):c.5185-2A>G	TRIOBP	Single nucleotide variant (splice acceptor variant)	TRIOBP-related condition	GLikely pathogenic
Select item 43859	NM_001039141.3(TRIOBP):c.5224C>T (p.Leu1742Phe)	TRIOBP (L1742F)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1254135	NM_001039141.3(TRIOBP):c.5274G>A (p.Thr1758=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3025126	NM_001039141.3(TRIOBP):c.5322+5281GGC[10]	TRIOBP	Microsatellite (inframe_insertion +1 more)	TRIOBP-related condition +1 more	GLikely benign
Select item 3039200	NM_001039141.3(TRIOBP):c.5322+5281GGC[6]	TRIOBP (G33del)	Microsatellite (inframe deletion +1 more)	TRIOBP-related condition	GLikely benign
Select item 43860	NM_001039141.3(TRIOBP):c.5487+9A>G	LOC126863145, TRIOBP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 43861	NM_001039141.3(TRIOBP):c.5488-7del	LOC126863145, TRIOBP	Deletion (intron variant)	not provided +1 more	GBenign
Select item 43862	NM_001039141.3(TRIOBP):c.5550G>A (p.Val1850=)	LOC126863145, TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 177980	NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val)	LOC126863145, TRIOBP (A1863V +1 more)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 229363	NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr)	TRIOBP (K1902T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 257222	NM_001039141.3(TRIOBP):c.5764C>T (p.Arg1922Trp)	TRIOBP (R1922W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 178559	NM_001039141.3(TRIOBP):c.5767G>A (p.Ala1923Thr)	TRIOBP (A1923T +1 more)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 1463093	NM_001039141.3(TRIOBP):c.5769G>A (p.Ala1923=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +1 more	GLikely benign
Select item 289527	NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition +2 more	GConflicting classifications of pathogenicity
Select item 666774	NM_001039141.3(TRIOBP):c.6283T>C (p.Ser2095Pro)	TRIOBP (S382P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 667345	NM_001039141.3(TRIOBP):c.6308C>T (p.Pro2103Leu)	TRIOBP (P2103L +1 more)	Single nucleotide variant (missense variant)	TRIOBP-related condition +2 more	GUncertain significance
Select item 165606	NM_001039141.3(TRIOBP):c.6324+162G>A	TRIOBP (V399M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2631761	NM_001039141.3(TRIOBP):c.6324+203dup	TRIOBP (E413*)	Duplication (nonsense +1 more)	TRIOBP-related condition	GLikely pathogenic
Select item 165609	NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)	TRIOBP (S2121L +1 more)	Single nucleotide variant (missense variant)	TRIOBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3053569	NM_001039141.3(TRIOBP):c.6399C>T (p.His2133=)	TRIOBP	Single nucleotide variant (synonymous variant)	TRIOBP-related condition	GLikely benign
Select item 680327	NM_001039141.3(TRIOBP):c.6414G>A (p.Gln2138=)	TRIOBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 165610	NM_001039141.3(TRIOBP):c.6455C>T (p.Thr2152Met)	TRIOBP (T2152M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 257225	NM_001039141.3(TRIOBP):c.6472+19dup	TRIOBP	Duplication (intron variant)	not specified +2 more	GBenign
Select item 1601530	NM_001039141.3(TRIOBP):c.6472+14_6472+15insC	TRIOBP	Insertion (intron variant)	TRIOBP-related condition +2 more	GBenign/Likely benign
Select item 1548069	NM_001039141.3(TRIOBP):c.6472+14_6472+15insT	TRIOBP	Insertion (intron variant)	TRIOBP-related condition +1 more	GBenign/Likely benign
Select item 257223	NM_001039141.3(TRIOBP):c.6472+14G>T	TRIOBP	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 257224	NM_001039141.3(TRIOBP):c.6472+15_6472+16insC	TRIOBP	Insertion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 43866	NM_001039141.3(TRIOBP):c.6498C>T (p.Tyr2166=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 227127	NM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr)	TRIOBP (H2191Y +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 165614	NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys)	TRIOBP (E2246K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 165612	NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 228042	NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 227128	NM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser)	TRIOBP (N2269S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 43867	NM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala)	TRIOBP (V2300A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 227129	NM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=)	TRIOBP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Items: 83