OTOP3[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2648243	NM_001272005.1(OTOP3):c.-119T>C	OTOP3 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2266644	NM_178233.2(OTOP3):c.42G>T (p.Trp14Cys)	OTOP3 (W14C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329422	NM_178233.2(OTOP3):c.55C>T (p.Arg19Trp)	OTOP3 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207324	NM_178233.2(OTOP3):c.77G>T (p.Arg26Leu)	OTOP3 (R26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207325	NM_178233.2(OTOP3):c.89C>T (p.Ser30Leu)	OTOP3 (S30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524318	NM_001272005.2(OTOP3):c.77C>T (p.Pro26Leu)	OTOP3 (P26L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396334	NM_001272005.2(OTOP3):c.100G>A (p.Val34Met)	OTOP3 (V34M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364372	NM_001272005.2(OTOP3):c.109G>A (p.Glu37Lys)	OTOP3 (E55K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337210	NM_001272005.2(OTOP3):c.125C>T (p.Ala42Val)	OTOP3 (A60V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207316	NM_001272005.2(OTOP3):c.179G>A (p.Arg60Gln)	OTOP3 (R60Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303664	NM_001272005.2(OTOP3):c.182G>A (p.Arg61Gln)	OTOP3 (R61Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207317	NM_001272005.2(OTOP3):c.187C>T (p.Arg63Trp)	OTOP3 (R63W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346585	NM_001272005.2(OTOP3):c.206G>A (p.Gly69Glu)	OTOP3 (G69E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471452	NM_001272005.2(OTOP3):c.209A>G (p.Gln70Arg)	OTOP3 (Q88R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207318	NM_001272005.2(OTOP3):c.259T>G (p.Phe87Val)	OTOP3 (F87V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403077	NM_001272005.2(OTOP3):c.268A>T (p.Ser90Cys)	OTOP3 (S108C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216005	NM_001272005.2(OTOP3):c.292G>A (p.Val98Ile)	OTOP3 (V116I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648244	NM_001272005.2(OTOP3):c.327G>A (p.Thr109=)	OTOP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278321	NM_001272005.2(OTOP3):c.352C>T (p.Leu118Phe)	OTOP3 (L118F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246083	NM_001272005.2(OTOP3):c.362A>G (p.Tyr121Cys)	OTOP3 (Y121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267692	NM_001272005.2(OTOP3):c.364G>A (p.Val122Met)	OTOP3 (V122M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257210	NM_001272005.2(OTOP3):c.374C>G (p.Thr125Ser)	OTOP3 (T125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207320	NM_001272005.2(OTOP3):c.388C>G (p.His130Asp)	OTOP3 (H148D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556462	NM_001272005.2(OTOP3):c.422C>G (p.Pro141Arg)	OTOP3 (P141R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365512	NM_001272005.2(OTOP3):c.429G>C (p.Trp143Cys)	OTOP3 (W161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538067	NM_001272005.2(OTOP3):c.434G>A (p.Arg145Gln)	OTOP3 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207321	NM_001272005.2(OTOP3):c.460T>C (p.Cys154Arg)	OTOP3 (C172R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406879	NM_001272005.2(OTOP3):c.485G>A (p.Arg162Gln)	OTOP3 (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277731	NM_001272005.2(OTOP3):c.512G>T (p.Arg171Leu)	OTOP3 (R189L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648245	NM_001272005.2(OTOP3):c.549C>T (p.Ile183=)	OTOP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2345432	NM_001272005.2(OTOP3):c.549C>G (p.Ile183Met)	OTOP3 (I201M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207322	NM_001272005.2(OTOP3):c.568G>A (p.Val190Ile)	OTOP3 (V208I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3303668	NM_001272005.2(OTOP3):c.575C>T (p.Thr192Ile)	OTOP3 (T210I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345634	NM_001272005.2(OTOP3):c.610C>T (p.Arg204Trp)	OTOP3 (R204W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608598	NM_001272005.2(OTOP3):c.633G>A (p.Arg211=)	LOC126862635, OTOP3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3207323	NM_001272005.2(OTOP3):c.689C>A (p.Thr230Asn)	LOC126862635, OTOP3 (T230N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614078	NM_001272005.2(OTOP3):c.707G>A (p.Arg236Gln)	LOC126862635, OTOP3 (R254Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410410	NM_001272005.2(OTOP3):c.728G>A (p.Gly243Asp)	LOC126862635, OTOP3 (G243D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408608	NM_001272005.2(OTOP3):c.805C>T (p.Arg269Trp)	OTOP3 (R287W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262723	NM_001272005.2(OTOP3):c.823C>T (p.Leu275Phe)	OTOP3 (L275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276269	NM_001272005.2(OTOP3):c.878T>C (p.Met293Thr)	OTOP3 (M311T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350824	NM_001272005.2(OTOP3):c.889G>A (p.Val297Met)	OTOP3 (V297M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389302	NM_001272005.2(OTOP3):c.896G>A (p.Arg299His)	OTOP3 (R299H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214191	NM_001272005.2(OTOP3):c.901G>A (p.Val301Met)	OTOP3 (V319M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207115	NM_001272005.2(OTOP3):c.922C>T (p.His308Tyr)	OTOP3 (H308Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303665	NM_001272005.2(OTOP3):c.938C>A (p.Pro313His)	OTOP3 (P313H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207326	NM_001272005.2(OTOP3):c.938C>G (p.Pro313Arg)	OTOP3 (P331R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457392	NM_001272005.2(OTOP3):c.952G>A (p.Gly318Arg)	OTOP3 (G336R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342464	NM_001272005.2(OTOP3):c.962T>C (p.Phe321Ser)	OTOP3 (F321S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213994	NM_001272005.2(OTOP3):c.968C>T (p.Pro323Leu)	OTOP3 (P323L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466062	NM_001272005.2(OTOP3):c.977G>T (p.Gly326Val)	OTOP3 (G344V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303669	NM_001272005.2(OTOP3):c.983T>G (p.Leu328Arg)	OTOP3 (L328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303667	NM_001272005.2(OTOP3):c.1112C>T (p.Ala371Val)	OTOP3 (A371V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294422	NM_001272005.2(OTOP3):c.1141C>G (p.Leu381Val)	OTOP3 (L381V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375107	NM_001272005.2(OTOP3):c.1151G>A (p.Arg384Lys)	OTOP3 (R402K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468879	NM_001272005.2(OTOP3):c.1175C>T (p.Pro392Leu)	OTOP3 (P392L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363855	NM_001272005.2(OTOP3):c.1180C>T (p.Arg394Cys)	OTOP3 (R394C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460661	NM_001272005.2(OTOP3):c.1211C>G (p.Ala404Gly)	OTOP3 (A404G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400807	NM_001272005.2(OTOP3):c.1231A>G (p.Ile411Val)	OTOP3 (I429V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207312	NM_001272005.2(OTOP3):c.1234G>A (p.Ala412Thr)	OTOP3 (A430T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207313	NM_001272005.2(OTOP3):c.1262C>G (p.Ala421Gly)	OTOP3 (A439G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205151	NM_001272005.2(OTOP3):c.1267C>T (p.Arg423Cys)	OTOP3 (R423C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205609	NM_001272005.2(OTOP3):c.1271C>T (p.Pro424Leu)	OTOP3 (P424L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486281	NM_001272005.2(OTOP3):c.1333G>A (p.Ala445Thr)	OTOP3 (A463T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2490701	NM_001272005.2(OTOP3):c.1351A>G (p.Ile451Val)	OTOP3 (I451V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303666	NM_001272005.2(OTOP3):c.1360C>G (p.Leu454Val)	OTOP3 (L454V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519081	NM_001272005.2(OTOP3):c.1369C>T (p.Arg457Cys)	OTOP3 (R457C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207315	NM_001272005.2(OTOP3):c.1370G>A (p.Arg457His)	OTOP3 (R457H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601314	NM_001272005.2(OTOP3):c.1396G>A (p.Gly466Ser)	OTOP3 (G484S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351284	NM_001272005.2(OTOP3):c.1516C>T (p.Arg506Trp)	OTOP3 (R524W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461202	NM_001272005.2(OTOP3):c.1562T>C (p.Ile521Thr)	OTOP3 (I539T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315980	NM_001272005.2(OTOP3):c.1567C>G (p.Leu523Val)	OTOP3 (L541V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648246	NM_001272005.2(OTOP3):c.1611C>T (p.Asn537=)	OTOP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2513933	NM_001272005.2(OTOP3):c.1691G>A (p.Arg564His)	OTOP3 (R564H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 90