ClinVar for Gene (Select 133060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303658	NM_177998.3(OTOP1):c.1621A>G (p.Lys541Glu)	OTOP1 (K541E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303657	NM_177998.3(OTOP1):c.481T>G (p.Cys161Gly)	OTOP1 (C161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303656	NM_177998.3(OTOP1):c.386G>T (p.Gly129Val)	OTOP1 (G129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303655	NM_177998.3(OTOP1):c.308A>G (p.Gln103Arg)	OTOP1 (Q103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303654	NM_177998.3(OTOP1):c.989T>C (p.Val330Ala)	OTOP1 (V330A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303653	NM_177998.3(OTOP1):c.1418C>G (p.Pro473Arg)	OTOP1 (P473R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303652	NM_177998.3(OTOP1):c.700A>G (p.Ile234Val)	OTOP1 (I234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246741	NC_000004.11:g.(?_2357152)_(15176083_?)del	ABLIM2, ACOX3 +83 more	Deletion	not provided	GPathogenic
Select item 3207300	NM_177998.3(OTOP1):c.986T>G (p.Val329Gly)	OTOP1 (V329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207299	NM_177998.3(OTOP1):c.918C>G (p.Phe306Leu)	OTOP1 (F306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207297	NM_177998.3(OTOP1):c.709G>C (p.Gly237Arg)	OTOP1 (G237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207296	NM_177998.3(OTOP1):c.433G>A (p.Val145Ile)	OTOP1 (V145I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3207295	NM_177998.3(OTOP1):c.411C>G (p.Ile137Met)	OTOP1 (I137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207293	NM_177998.3(OTOP1):c.1801G>A (p.Ala601Thr)	OTOP1 (A601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207292	NM_177998.3(OTOP1):c.1714G>A (p.Gly572Arg)	OTOP1 (G572R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207291	NM_177998.3(OTOP1):c.1674G>C (p.Trp558Cys)	OTOP1 (W558C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207290	NM_177998.3(OTOP1):c.1650G>T (p.Leu550Phe)	OTOP1 (L550F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207289	NM_177998.3(OTOP1):c.1604A>T (p.Gln535Leu)	OTOP1 (Q535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207288	NM_177998.3(OTOP1):c.1595G>A (p.Arg532His)	OTOP1 (R532H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207287	NM_177998.3(OTOP1):c.1361T>A (p.Leu454His)	OTOP1 (L454H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207286	NM_177998.3(OTOP1):c.1360C>A (p.Leu454Ile)	OTOP1 (L454I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207285	NM_177998.3(OTOP1):c.1295C>G (p.Ala432Gly)	OTOP1 (A432G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207284	NM_177998.3(OTOP1):c.1220G>A (p.Gly407Asp)	OTOP1 (G407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207283	NM_177998.3(OTOP1):c.1160G>T (p.Arg387Leu)	OTOP1 (R387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207282	NM_177998.3(OTOP1):c.1159C>T (p.Arg387Cys)	OTOP1 (R387C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207281	NM_177998.3(OTOP1):c.1145C>G (p.Ser382Cys)	OTOP1 (S382C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207280	NM_177998.3(OTOP1):c.1091C>T (p.Ala364Val)	OTOP1 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207279	NM_177998.3(OTOP1):c.1006A>T (p.Ile336Phe)	OTOP1 (I336F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2616709	NM_177998.3(OTOP1):c.116C>T (p.Pro39Leu)	OTOP1 (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614432	NM_177998.3(OTOP1):c.356G>A (p.Arg119His)	OTOP1 (R119H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599100	NM_177998.3(OTOP1):c.613C>G (p.His205Asp)	OTOP1 (H205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2561744	NM_177998.3(OTOP1):c.1642G>T (p.Ala548Ser)	OTOP1 (A548S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546085	NM_177998.3(OTOP1):c.364C>A (p.Arg122Ser)	OTOP1 (R122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545478	NM_177998.3(OTOP1):c.1177C>G (p.Leu393Val)	OTOP1 (L393V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535011	NM_177998.3(OTOP1):c.1592C>T (p.Pro531Leu)	OTOP1 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509862	NM_177998.3(OTOP1):c.880C>T (p.Arg294Cys)	OTOP1 (R294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493713	NM_177998.3(OTOP1):c.262A>G (p.Ser88Gly)	OTOP1 (S88G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477703	NM_177998.3(OTOP1):c.391G>C (p.Gly131Arg)	OTOP1 (G131R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466506	NM_177998.3(OTOP1):c.35G>A (p.Arg12Gln)	OTOP1 (R12Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461290	NM_177998.3(OTOP1):c.764C>T (p.Thr255Met)	OTOP1 (T255M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460383	NM_177998.3(OTOP1):c.796G>A (p.Gly266Arg)	OTOP1 (G266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456874	NM_177998.3(OTOP1):c.1258C>T (p.Arg420Cys)	OTOP1 (R420C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408165	NM_177998.3(OTOP1):c.365G>A (p.Arg122His)	OTOP1 (R122H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394850	NM_177998.3(OTOP1):c.1013G>A (p.Arg338His)	OTOP1 (R338H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386764	NM_177998.3(OTOP1):c.149G>A (p.Arg50His)	OTOP1 (R50H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382034	NM_177998.3(OTOP1):c.122C>T (p.Ser41Phe)	OTOP1 (S41F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381637	NM_177998.3(OTOP1):c.719A>G (p.Asn240Ser)	OTOP1 (N240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368760	NM_177998.3(OTOP1):c.688A>G (p.Lys230Glu)	OTOP1 (K230E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356141	NM_177998.3(OTOP1):c.613C>T (p.His205Tyr)	OTOP1 (H205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317839	NM_177998.3(OTOP1):c.1552G>A (p.Glu518Lys)	OTOP1 (E518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296898	NM_177998.3(OTOP1):c.1499A>G (p.Asn500Ser)	OTOP1 (N500S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283076	NM_177998.3(OTOP1):c.1039C>T (p.Leu347Phe)	OTOP1 (L347F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256282	NM_177998.3(OTOP1):c.187A>G (p.Ser63Gly)	OTOP1 (S63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238766	NM_177998.3(OTOP1):c.1295C>A (p.Ala432Glu)	OTOP1 (A432E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235711	NM_177998.3(OTOP1):c.1241G>C (p.Cys414Ser)	OTOP1 (C414S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228583	NM_177998.3(OTOP1):c.1196C>G (p.Ser399Trp)	OTOP1 (S399W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207378	NM_177998.3(OTOP1):c.1439A>G (p.Lys480Arg)	OTOP1 (K480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204932	NM_177998.3(OTOP1):c.1594C>T (p.Arg532Cys)	OTOP1 (R532C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1679802	Single allele	ADRA2C, BLOC1S4 +181 more	Deletion	not provided	GLikely pathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1073308	NC_000004.11:g.(?_2200251)_(5710240_?)del	TMEM128, TNIP2 +28 more	Deletion	Curry-Hall syndrome +1 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 977788	GRCh37/hg19 4p16.3-16.1(chr4:2909440-6871516)	PPP2R2C, RGS12 +32 more	Copy number loss	microdeletion 4p16.3p16.1	GLikely pathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 685188	GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1	ABLIM2, ACOX3 +69 more	Copy number loss	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562881	GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1	ZFYVE28, SH3BP2 +23 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic

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